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1.
Ghana Med J ; 58(1): 109-114, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38957279

ABSTRACT

Introduction: Mucocoele of the appendix occurs in 0.2-0.7% of people in the world without any well-defined clinical symptoms. It occurs when there is an accumulation of mucous in the lumen of the appendix. Case Presentation: We present three cases: a 48-year-old male admitted to the emergency room with a one-day history of right iliac fossa pain. Abdominal examination was suggestive of acute appendicitis. The initial abdominal computerised tomography scan was reported as being unremarkable. At surgery, a firm tumour of the appendix was found, and a limited right hemicolectomy was done. Histopathology confirmed a mucocoele of the appendix with borderline mucinous histology.The second case is a 63-year-old man who presented with a one-year history of abdominal distension and weight loss. Previous abdominal ultrasound was suggestive of liver cirrhosis with significant ascitic fluid. Abdominal magnetic resonance imaging found an appendix mucocoele with infiltration of the omentum and scalloping of the liver surface suggestive of pseudomyxoma peritonei. A percutaneous biopsy of the omental mass confirmed metastatic mucinous adenocarcinoma of the appendix.The third case is a 68-year-old man who, during an annual medical check-up, had an incidental finding of a cystic right iliac fossa mass on ultrasound, confirmed on abdominopelvic computerised tomography scan to be an appendix mucocele. He had laparoscopic appendicectomy. The histopathological diagnosis confirmed a mucinous cystadenoma of the appendix. Conclusion: Preoperative diagnosis of appendiceal mucocoele is difficult and commonly discovered intraoperatively. The prognosis is good for the histologically benign type, but it is poor when malignant or peritoneal lesions are present. Funding: None declared.


Subject(s)
Appendix , Mucocele , Humans , Male , Middle Aged , Mucocele/surgery , Mucocele/diagnostic imaging , Mucocele/pathology , Appendix/pathology , Appendix/diagnostic imaging , Appendix/surgery , Aged , Tomography, X-Ray Computed , Appendiceal Neoplasms/surgery , Appendiceal Neoplasms/pathology , Appendiceal Neoplasms/diagnostic imaging , Adenocarcinoma, Mucinous/surgery , Adenocarcinoma, Mucinous/pathology , Adenocarcinoma, Mucinous/diagnostic imaging , Appendicitis/surgery , Appendicitis/diagnostic imaging , Appendectomy , Magnetic Resonance Imaging , Cecal Diseases/surgery , Cecal Diseases/pathology , Pseudomyxoma Peritonei/pathology , Pseudomyxoma Peritonei/surgery
2.
Hinyokika Kiyo ; 70(4): 89-92, 2024 Apr.
Article in Japanese | MEDLINE | ID: mdl-38965907

ABSTRACT

A 48-year-old man who presented with asymptomatic gross hematuria in July 202X had been followed up without treatment. In January 202X, he was referred to our department due to the exacerbation of his hematuria. Contrast-enhanced magnetic resonance imaging revealed bladder cancer suggested bilateral seminal vesicle and prostate invasion, and enlarged right internal and external iliac lymph nodes. The pathological diagnosis was mucinous bladder adenocarcinoma. Prostate biopsy results were negative. Upper and lower gastrointestinal examinations were unremarkable. We suspected bladder cancer cT4aN2M0. In March 202X+1, the patient underwent robotic-assisted laparoscopic total bladder resection, pelvic lymph node dissection, and intracorporeal urinary tract modification (ileal conduit creation). The final diagnosis was primary mucinous adenocarcinoma pT4aN2M0 of the bladder. Given the heightened risk of recurrence, the patient was administered a three-month course of oxaliplatin and capecitabine (XELOX) as adjuvant postoperative chemotherapy. The patient remains free of progression at 8 months postoperatively. Adenocarcinoma of the bladder is an exceedingly rare entity, with no established chemotherapeutic protocols. Primary mucinous adenocarcinoma of the bladder is even more exceptional. Presently, only regimens similar to those for colorectal cancer or adenocarcinoma of unknown primary, including 5-fluorouracil, are considered. In our particular case, we elected to pursue XELOX therapy, aligning with the principles governing the management of colorectal cancer.


Subject(s)
Adenocarcinoma, Mucinous , Urinary Bladder Neoplasms , Humans , Male , Middle Aged , Urinary Bladder Neoplasms/pathology , Urinary Bladder Neoplasms/diagnostic imaging , Urinary Bladder Neoplasms/surgery , Adenocarcinoma, Mucinous/diagnostic imaging , Adenocarcinoma, Mucinous/pathology , Adenocarcinoma, Mucinous/surgery , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Capecitabine/administration & dosage , Magnetic Resonance Imaging
3.
BMC Gastroenterol ; 24(1): 201, 2024 Jun 17.
Article in English | MEDLINE | ID: mdl-38886637

ABSTRACT

BACKGROUND: Dilatation of common bile duct (CBD) is mostly pathological and mainly occurs secondary to mechanical causes. We aimed to explore the prevalence of CBD dilatation in Intraductal Papillary Mucinous Neoplasms of the pancreas (IPMN) among patients referred to EUS. METHODS: A retrospective study of all patients who had an EUS diagnosis of IPMN from 2011 to 2019 at Galilee Medical Center were extracted. Control group including patients with other types of pancreatic cysts. RESULTS: Overall, 2400 patients were included in the study, of them 158 patients were diagnosed with pancreatic cysts, 117 patients (74%) diagnosed with IPMN (group A), and 41 patients (26%) diagnosed with other pancreatic cysts (group B). Univariate analysis showed significant association of IPMN (OR 3.8, 95% CI 1.3-11.5), resected gallbladder (GB) (OR 7.75, 95% CI 3.19-18.84), and age (OR 1, 95% CI 1.01-1.08) with CBD dilatation. Classifying IPMN to sub-groups using adjusted multivariate logistic regression analysis, only main duct-IPMN (MD-IPMN) significantly correlated with CBD dilatation compared to branch duct (BD)-IPMN and mixed type-IPMN (OR 19.6, 95% CI 4.57-83.33, OR 16.3, 95% CI 3.02-88.08). CONCLUSION: MD-IPMN was significantly correlated with dilated CBD. Assessment of the pancreas is warranted in encountered cases of dilated CBD without obvious mechanical cause.


Subject(s)
Common Bile Duct , Humans , Male , Female , Retrospective Studies , Middle Aged , Dilatation, Pathologic/diagnostic imaging , Aged , Common Bile Duct/diagnostic imaging , Common Bile Duct/pathology , Pancreatic Intraductal Neoplasms/pathology , Pancreatic Intraductal Neoplasms/diagnostic imaging , Endosonography , Pancreatic Cyst/pathology , Pancreatic Cyst/diagnostic imaging , Pancreatic Neoplasms/pathology , Pancreatic Neoplasms/diagnostic imaging , Carcinoma, Pancreatic Ductal/pathology , Carcinoma, Pancreatic Ductal/diagnostic imaging , Adenocarcinoma, Mucinous/pathology , Adenocarcinoma, Mucinous/diagnostic imaging
4.
Zhonghua Bing Li Xue Za Zhi ; 53(6): 546-551, 2024 Jun 08.
Article in Chinese | MEDLINE | ID: mdl-38825898

ABSTRACT

Objective: To investigate the clinical and pathological characteristics of primary mucinous gland lesions of the fallopian tubes. Methods: The clinical data, pathomorphological characteristics and immunophenotype of 14 cases of primary mucinous gland lesions of the fallopian tube diagnosed at Obstetrics and Gynecology Hospital of Fudan University from 2015 to 2023 were analyzed retrospectively. In addition, a comprehensive review of relevant literature was conducted. Results: The age of 14 patients ranged from 53 to 83 years, with an average of 65 years. Among them, 13 cases exhibited unilateral involvement while one case showed bilateral presentation. Nine cases were mucinous metaplasia of the fallopian tube, four cases were invasive mucinous adenocarcinoma and one case was mucinous carcinoma in situ. Morphologically, mucinous metaplasia of the fallopian tube was focal, with or without inflammation. The cells of mucinous adenocarcinoma or mucinous carcinoma in situ exhibited characteristics indicative of gastrointestinal differentiation. Immunohistochemical analysis revealed diffuse positive expression of CK7, and negative expression of SATB2. CDX2 demonstrated positive staining in two cases. One case exhibited diffuse and strongly positive mutant expression of p53, whereas the remaining cases displayed wild-type expression. MUC6 showed diffuse or focally positive staining in mucinous gland lesions characterized by gastric differentiation. Some cases of mucinous adenocarcinoma of fallopian tube were subject to AB-PAS staining, resulting in red to purple cytoplasmic staining. Conclusions: Primary mucinous lesions of the fallopian tube are exceedingly uncommon. All cases of mucinous adenocarcinoma of fallopian tubes in this study exhibit the morphology and immunohistochemical characteristics of gastrointestinal differentiation. Mucinous metaplasia of the fallopian tube is a benign lesion of incidental finding, which is closely related to inflammation or gastric differentiation. Mucinous lesions of cervix, ovary and digestive tract are excluded in all patients, confirming the independent existence of mucinous lesions within fallopian tubes.


Subject(s)
Adenocarcinoma, Mucinous , Fallopian Tube Neoplasms , Fallopian Tubes , Metaplasia , Tumor Suppressor Protein p53 , Humans , Female , Fallopian Tube Neoplasms/pathology , Fallopian Tube Neoplasms/metabolism , Adenocarcinoma, Mucinous/pathology , Adenocarcinoma, Mucinous/metabolism , Aged , Middle Aged , Retrospective Studies , Fallopian Tubes/pathology , Aged, 80 and over , Tumor Suppressor Protein p53/metabolism , Metaplasia/pathology , Keratin-7/metabolism , CDX2 Transcription Factor/metabolism , CDX2 Transcription Factor/genetics , Mucin-6/metabolism , Matrix Attachment Region Binding Proteins/metabolism , Matrix Attachment Region Binding Proteins/genetics , Transcription Factors/metabolism , Transcription Factors/genetics , Carcinoma in Situ/pathology , Immunohistochemistry
5.
Zhonghua Bing Li Xue Za Zhi ; 53(6): 578-584, 2024 Jun 08.
Article in Chinese | MEDLINE | ID: mdl-38825903

ABSTRACT

Objective: To correlate the common driver gene variations in primary lung adenocarcinoma with their clinical characteristics and histopathological subtypes. Methods: There were 4 995 cases of primary lung adenocarcinoma diagnosed at Weifang People's Hospital of Shandong Province from January 2015 to December 2021 which were retrospectively analyzed. Among them 1 983 cases were evaluated for their histopathological subtype; 3 012 were analyzed for the correlation of their histopathological subtypes and corresponding driver gene variations, including invasive non-mucinous adenocarcinoma (INMA) and invasive mucinous adenocarcinoma (IMA), and morphologically, poorly-differentiated, moderately-differentiated and well-differentiated adenocarcinomas. Next-generation sequencing was used to detect variations in EGFR, KRAS, ALK, RET, ROS1, MET, HER2, or BRAF driver genes. Results: There were 2 384 males and 2 611 females. EGFR and ALK variations were more commonly found in female patients aged 60 years or older, with EGFR mutation rate in clinical stage Ⅰ (25.80%) significantly higher than in other stages (P<0.05). KRAS mutations were more commonly detected in male smokers aged 60 years or older, HER2 mutations were more commonly in patients younger than 60 years, and RET mutations were more commonly in non-smokers (all P<0.05). No correlation was found between ROS1, MET, and BRAF gene variations and their clinical characteristics (P>0.05). For the histopathological subtypes, among the 1 899 cases of acinar adenocarcinoma, EGFR mutation rate was the highest (67.30%) compared to the other genes. Exon 21 L858R and exon 19 del were the main mutation sites in IMA and INMA, with a higher mutation rate at exon 20 T790M (11.63%) in micropapillary adenocarcinoma. In IMA, KRAS had the highest overall mutation rate (43.80%), with statistically significant difference in mutation rates of exon 2 G12D and exon 2 G12V in acinar adenocarcinoma, solid, and IMA (P<0.05). KRAS mutation at various sites were higher in poorly differentiated groups compared to moderately- and well-differentiated groups (P<0.05). HER2 mutations were more commonly observed in acinar adenocarcinoma, papillary, and micropapillary adenocarcinoma of INMA. BRAF mutation was higher in micropapillary adenocarcinoma compared with other types (P<0.05). Conclusions: Variations in EGFR, ALK, KRAS, HER2, and RET in primary lung adenocarcinoma are associated with patients' age, smoking history, and clinical stage, and driver gene mutations vary among different histopathological subtypes. EGFR mutations are predominant in INMA, while KRAS mutations are predominant in IMA.


Subject(s)
Adenocarcinoma of Lung , Anaplastic Lymphoma Kinase , ErbB Receptors , Lung Neoplasms , Mutation , Proto-Oncogene Proteins B-raf , Proto-Oncogene Proteins p21(ras) , Receptor, ErbB-2 , Humans , Lung Neoplasms/genetics , Lung Neoplasms/pathology , Male , Adenocarcinoma of Lung/genetics , Adenocarcinoma of Lung/pathology , Female , Retrospective Studies , Anaplastic Lymphoma Kinase/genetics , ErbB Receptors/genetics , Proto-Oncogene Proteins B-raf/genetics , Proto-Oncogene Proteins p21(ras)/genetics , Receptor, ErbB-2/genetics , Receptor, ErbB-2/metabolism , Protein-Tyrosine Kinases/genetics , Proto-Oncogene Proteins c-ret/genetics , Adenocarcinoma/genetics , Adenocarcinoma/pathology , Proto-Oncogene Proteins/genetics , Adenocarcinoma, Mucinous/genetics , Adenocarcinoma, Mucinous/pathology , Middle Aged
6.
BMC Womens Health ; 24(1): 375, 2024 Jun 28.
Article in English | MEDLINE | ID: mdl-38937781

ABSTRACT

BACKGROUND: Peutz-Jeghers syndrome (PJS) is characterized by the presence of hamartomatous polyps in the gastrointestinal tract and mucocutaneous pigmentation on the lips, oral mucosa, nose, fingers, and toes. Synchronous mucinous metaplasia and neoplasia of the female genital tract (SMMN-FGT) refers to the occurrence of multifocal mucinous lesions in at least two sites, including the cervix, uterus, fallopian tubes, and ovaries, in the female genital tract. SMMN-FGT and PJS are rare diseases with a very low incidence, especially when occurring simultaneously. CASE PRESENTATION: We report a case in which a woman with a large mass on the left ovary underwent a gynecological surgery and was diagnosed with cervical gastric-type adenocarcinoma and mucinous lesions in the endometrium, bilateral fallopian tubes, and ovary, i.e., SMMN-FGT, by postoperative paraffin pathology. The patient sought medical attention for abdominal distension and enlargement. A gynecological ultrasound revealed a multilocular cystic mass in the pelvis, while serum tumor markers were within normal limits, with mildly elevated carbohydrate antigen 199 and carbohydrate antigen 125 levels. Cervical thin-prep cytology test result was negative. The patient had a family history of PJS with black spots on her skin and mucous membranes since the age of 8 years. She underwent multiple partial small bowel resections and gastrointestinal polypectomy owing to intestinal obstruction and intussusception. She underwent left adnexectomy, hysterectomy, right salpingectomy, greater omental resection, appendectomy and right ovary biopsy, and received six courses of adjuvant chemotherapy with Lopressor plus Carboplatin. Genetic testing revealed a heterozygous serine threonine kinase 11 germline mutation and there were no signs of recurrence during the 18-month follow-up period after treatment. CONCLUSIONS: This is a rare case in which PJS was complicated by SMMN-FGT. Owing to its extreme rarity, there are no guidelines, but reported cases appear to indicate a poor prognosis. We retrospectively reviewed all cases of collisions between PJS and SMMN-FGT and explored the clinical features, pathological characteristics, diagnosis, treatment methods, and prognosis when the two diseases coexisted. The aim is to deepen the clinicians' understanding of this disease for early detection, diagnosis and treatment.


Subject(s)
Metaplasia , Peutz-Jeghers Syndrome , Humans , Female , Peutz-Jeghers Syndrome/complications , Peutz-Jeghers Syndrome/diagnosis , Peutz-Jeghers Syndrome/pathology , Genital Neoplasms, Female/pathology , Genital Neoplasms, Female/diagnosis , Adenocarcinoma, Mucinous/diagnosis , Adenocarcinoma, Mucinous/pathology , Adenocarcinoma, Mucinous/complications , Ovarian Neoplasms/pathology , Ovarian Neoplasms/diagnosis , Ovarian Neoplasms/complications , Adult , Uterine Cervical Neoplasms/diagnosis , Uterine Cervical Neoplasms/pathology , Uterine Cervical Neoplasms/complications , Neoplasms, Multiple Primary/pathology , Neoplasms, Multiple Primary/diagnosis
7.
In Vivo ; 38(4): 1973-1983, 2024.
Article in English | MEDLINE | ID: mdl-38936897

ABSTRACT

BACKGROUND/AIM: Distinguishing ovarian metastasis of usual-type endocervical adenocarcinoma (UEA) from primary ovarian tumors is often challenging because of several overlapping features. This study aimed to investigate the clinicopathological characteristics and outcomes of patients with metastatic ovarian UEA. PATIENTS AND METHODS: Clinicopathological information was collected from eight patients with metastatic ovarian UEA. Immunostaining was also performed. RESULTS: Most patients presented with adnexal masses that were suspected to be primary ovarian tumors. All examined cases showed block p16 positivity in paired primary and metastatic tumors. Five patients who completed post-operative chemotherapy or concurrent chemoradiotherapy (CCRT) did not experience recurrence. In contrast, one patient who refused further treatment after the first CCRT cycle experienced ovarian and peritoneal metastases. One patient with isolated ovarian metastasis left untreated and developed peritoneal metastasis during follow-up. CONCLUSION: Patients with UEA who received proper management for ovarian metastases showed favorable outcomes. Given that ovarian metastatic UEA can mimic primary ovarian borderline tumor or carcinoma of the mucinous or endometrioid type, pathologists should be aware of this unusual but distinctive morphology to avoid misdiagnosis and inappropriate treatment.


Subject(s)
Carcinoma, Endometrioid , Ovarian Neoplasms , Uterine Cervical Neoplasms , Humans , Female , Ovarian Neoplasms/pathology , Ovarian Neoplasms/diagnosis , Middle Aged , Uterine Cervical Neoplasms/pathology , Uterine Cervical Neoplasms/diagnosis , Uterine Cervical Neoplasms/therapy , Uterine Cervical Neoplasms/virology , Adult , Diagnosis, Differential , Carcinoma, Endometrioid/pathology , Carcinoma, Endometrioid/diagnosis , Carcinoma, Endometrioid/therapy , Adenocarcinoma, Mucinous/secondary , Adenocarcinoma, Mucinous/therapy , Adenocarcinoma, Mucinous/diagnosis , Adenocarcinoma, Mucinous/pathology , Papillomavirus Infections/pathology , Papillomavirus Infections/complications , Papillomavirus Infections/virology , Papillomavirus Infections/diagnosis , Aged , Adenocarcinoma/virology , Adenocarcinoma/secondary , Adenocarcinoma/diagnosis , Adenocarcinoma/pathology , Adenocarcinoma/therapy , Papillomaviridae/isolation & purification , Neoplasm Metastasis , Human Papillomavirus Viruses
8.
J Investig Med High Impact Case Rep ; 12: 23247096241261309, 2024.
Article in English | MEDLINE | ID: mdl-38884543

ABSTRACT

Rectal signet ring cell carcinoma represents a rare subtype of colorectal adenocarcinoma known for its aggressive biological nature and poor prognosis. Although the co-occurrence of colorectal carcinoma with other tumors has been reported, the uncommon phenomenon of tumor-to-tumor metastasis, first described in 1930, remains rare. The most frequent donor neoplasms are lung or breast carcinomas, whereas cerebral meningiomas have been reported to be the most frequent recipient neoplasms. Here we report a case of a typical lipomatous tumor harboring metastatic signet ring cell rectal carcinoma. It is about a 42-year-old man diagnosed with rectal signet ring cell carcinoma and treated with concurrent radiotherapy and chemotherapy followed by an anterior resection and manual coloanal anastomosis with a temporary ileostomy. During the surgery, an abdominal wall lipoma was discovered and excised. A histopathological examination revealed infiltration of the fibro adipose tissue by a mucinous adenocarcinoma with a contingent of signet ring cells. The patient died 12 months after adjuvant chemotherapy due to peritoneal progression. To the best of our understanding, this represents the initial documented instance of tumor-to-tumor metastasis from rectal signet cell carcinoma to a conventional nonvascular lipoma. Consequently, even if one of these tumors appears clinically and radiologically benign, it is prudent to entertain the prospect of tumor-to-tumor metastasis. Thus, a comprehensive pathologic study of both tumors is highly recommended.


Subject(s)
Carcinoma, Signet Ring Cell , Lipoma , Rectal Neoplasms , Humans , Carcinoma, Signet Ring Cell/pathology , Carcinoma, Signet Ring Cell/secondary , Male , Rectal Neoplasms/pathology , Adult , Fatal Outcome , Lipoma/pathology , Adenocarcinoma, Mucinous/pathology , Adenocarcinoma, Mucinous/secondary
9.
Pancreas ; 53(6): e521-e527, 2024 Jul 01.
Article in English | MEDLINE | ID: mdl-38888840

ABSTRACT

OBJECTIVES: Endoscopic ultrasound (EUS) is an excellent diagnostic tool that provides high-resolution images of pancreatic cystic lesions. However, its role in the diagnosis of malignant intraductal papillary mucinous neoplasm (IPMN) remains limited and unclear. We aimed to determine the usefulness of this modality for such diagnosis. METHODS: Overall, 246 patients who underwent EUS for IPMN after computed tomography (CT)/magnetic resonance imaging (MRI) from April 2018 to June 2021 were followed up until March 2022. We assessed the added value of performing EUS after CT or MRI for diagnosing malignant IPMN, using receiver operating characteristic curve analysis. Walls as thick as 2 mm were considered thickened in this study if they were highly uneven. RESULTS: EUS clearly enhanced accuracy in identifying enhancing nodules and thickened walls. The areas under the receiver operating characteristic curve and corresponding 95% confidence intervals were 0.655 (0.549-0.760) and 0.566 (0.478-0.654) upon CT/MRI but 0.853 (0.763-0.942) and 0.725 (0.634-0.817) when observed using EUS. The combination of nodule size, thickened wall, and main duct size yielded the highest area under the receiver operating characteristic curve (0.944 [0.915-0.973]). CONCLUSIONS: EUS more accurately detects malignant IPMN, as uneven wall thickening and certain nodules cannot be identified with CT/MRI.


Subject(s)
Endosonography , Magnetic Resonance Imaging , Pancreatic Intraductal Neoplasms , Pancreatic Neoplasms , ROC Curve , Tomography, X-Ray Computed , Humans , Endosonography/methods , Male , Female , Aged , Middle Aged , Magnetic Resonance Imaging/methods , Tomography, X-Ray Computed/methods , Pancreatic Neoplasms/diagnostic imaging , Pancreatic Neoplasms/pathology , Pancreatic Intraductal Neoplasms/diagnostic imaging , Pancreatic Intraductal Neoplasms/pathology , Carcinoma, Pancreatic Ductal/diagnostic imaging , Carcinoma, Pancreatic Ductal/pathology , Carcinoma, Pancreatic Ductal/diagnosis , Adenocarcinoma, Mucinous/diagnostic imaging , Adenocarcinoma, Mucinous/pathology , Aged, 80 and over , Retrospective Studies , Adult , Reproducibility of Results
12.
Ann Diagn Pathol ; 72: 152330, 2024 Oct.
Article in English | MEDLINE | ID: mdl-38772285

ABSTRACT

BACKGROUND: Primary ovarian mucinous tumors are uncommon. Factors leading to invasive progression and metastatic disease have not been fully delineated yet. The aim of this study is to determine the rates of p53 and p16 immunoexpressions in primary ovarian mucinous tumors, to investigate their relationship with clinicopathologic factors and their impact on prognosis and survival. METHODS: Seventy-eight primary ovarian mucinous tumors (30 mucinous cystadenomas, 30 mucinous borderline tumors (MBOT), 18 mucinous carcinomas (MOC)) were evaluated immunohistochemically with p53 and p16 staining. The demographic, clinicopathological data, and postoperative follow-up findings of the patients were analyzed. RESULTS: Mutation-type p53 staining was present in 1/30 (3.3 %) cystadenoma, 10/30 (33.3 %) MBOT and 9/18 (50 %) MOC (p = 0.001). p16 overexpression was detected in 3/30 (10.0 %) MBOT and 5/18 (27.8 %) MOC, but not in any cystadenoma (p = 0.04). The frequency of mutation-type p53 staining in MBOTs with microinvasion was higher (71.4 %) than in those without (28.6 %, p = 0.026). The frequencies of p16 or p53 mutations were similar in MBOTs with and without intraepithelial carcinoma, or mural nodule (p > 0.05). In MOCs with ovarian surface involvement, mutation-type p53 staining was detected in 66.7 % (6/9) and p16 overexpression in 55.6 % (5/9) of the cases. A significant difference was found between MOCs with or without ovarian surface involvement regarding the frequency of p16 overexpression (p = 0.029). Any relationship was not detected between survival and p53 and p16 expression in MOCs (p > 0.05). CONCLUSION: p53 and p16 mutation rates were higher in MOCs compared to mucinous cystadenomas and MBOTs and suggest a relevant role in the development of primary ovarian mucinous carcinoma, however further studies are needed in this regard.


Subject(s)
Adenocarcinoma, Mucinous , Biomarkers, Tumor , Cyclin-Dependent Kinase Inhibitor p16 , Immunohistochemistry , Ovarian Neoplasms , Tumor Suppressor Protein p53 , Humans , Female , Ovarian Neoplasms/pathology , Ovarian Neoplasms/metabolism , Tumor Suppressor Protein p53/metabolism , Cyclin-Dependent Kinase Inhibitor p16/metabolism , Prognosis , Middle Aged , Adult , Adenocarcinoma, Mucinous/pathology , Adenocarcinoma, Mucinous/metabolism , Biomarkers, Tumor/metabolism , Biomarkers, Tumor/analysis , Aged , Immunohistochemistry/methods , Cystadenoma, Mucinous/pathology , Cystadenoma, Mucinous/metabolism , Mutation , Young Adult
13.
BMC Womens Health ; 24(1): 274, 2024 May 04.
Article in English | MEDLINE | ID: mdl-38704534

ABSTRACT

BACKGROUND: Giant ovarian cysts (GOCs)complicated with progressive bulbar paralysis (PBP) are very rare, and no such literature about these cases have been reported. Through the diagnosis and treatment of this case, the perioperative related treatment of such patients was analyzed in detail, and early-stage ovarian mucinous carcinoma was unexpectedly found during the treatment, which provided reference for clinical diagnosis and treatment of this kind of diseases. CASE PRESENTATION: In this article, we reported a 38-year-old female patient. The patient was diagnosed with PBP 2 years ago. Examination revealed a large fluid-dominated cystic solid mass in the pelvis measuring approximately 28.6×14.2×8.0 cm. Carbohydrate antigen19-9(CA19-9) 29.20 IU/mL and no other significant abnormalities were observed. The patient eventually underwent transabdominal right adnexal resection under regional anesthesia, epidural block. Postoperative pathology showed mucinous carcinoma in some areas of the right ovary. The patient was staged as stage IA, and surveillance was chosen. With postoperative follow-up 1 month later, her CA19-9 decreased to 14.50 IU/ml. CONCLUSIONS: GOCs combined with PBP patients require a multi-disciplinary treatment. Preoperative evaluation of the patient's PBP progression, selection of the surgical approach in relation to the patient's fertility requirements, the nature of the ovarian cyst and systemic condition are required. Early mucinous ovarian cancer accidentally discovered after operation and needs individualized treatment according to the guidelines and the patient's situation. The patient's dysphagia and respiratory function should be closely monitored during the perioperative period. In addition, moral support from the family is also very important.


Subject(s)
Adenocarcinoma, Mucinous , Ovarian Neoplasms , Humans , Female , Adult , Ovarian Neoplasms/complications , Ovarian Neoplasms/surgery , Ovarian Neoplasms/diagnosis , Adenocarcinoma, Mucinous/complications , Adenocarcinoma, Mucinous/surgery , Adenocarcinoma, Mucinous/diagnosis , Perioperative Care/methods , Ovarian Cysts/surgery , Ovarian Cysts/complications , Ovarian Cysts/diagnosis , Neoplasm Staging
14.
BMC Med Imaging ; 24(1): 108, 2024 May 14.
Article in English | MEDLINE | ID: mdl-38745134

ABSTRACT

BACKGROUND: The purpose of this research is to study the sonographic and clinicopathologic characteristics that associate with axillary lymph node metastasis (ALNM) for pure mucinous carcinoma of breast (PMBC). METHODS: A total of 176 patients diagnosed as PMBC after surgery were included. According to the status of axillary lymph nodes, all patients were classified into ALNM group (n = 15) and non-ALNM group (n = 161). The clinical factors (patient age, tumor size, location), molecular biomarkers (ER, PR, HER2 and Ki-67) and sonographic features (shape, orientation, margin, echo pattern, posterior acoustic pattern and vascularity) between two groups were analyzed to unclose the clinicopathologic and ultrasonographic characteristics in PMBC with ALNM. RESULTS: The incidence of axillary lymph node metastasis was 8.5% in this study. Tumors located in the outer side of the breast (upper outer quadrant and lower outer quadrant) were more likely to have lymphatic metastasis, and the difference between the two group was significantly (86.7% vs. 60.3%, P = 0.043). ALNM not associated with age (P = 0.437). Although tumor size not associated with ALNM(P = 0.418), the tumor size in ALNM group (32.3 ± 32.7 mm) was bigger than non-ALNM group (25.2 ± 12.8 mm). All the tumors expressed progesterone receptor (PR) positively, and 90% of all expressed estrogen receptor (ER) positively, human epidermal growth factor receptor 2 (HER2) were positive in two cases of non-ALNM group. Ki-67 high expression was observed in 36 tumors in our study (20.5%), and it was higher in ALNM group than non-ALNM group (33.3% vs. 19.3%), but the difference wasn't significantly (P = 0.338). CONCLUSIONS: Tumor location is a significant factor for ALNM in PMBC. Outer side location is more easily for ALNM. With the bigger size and/or Ki-67 higher expression status, the lymphatic metastasis seems more likely to present.


Subject(s)
Adenocarcinoma, Mucinous , Axilla , Breast Neoplasms , Lymph Nodes , Lymphatic Metastasis , Humans , Female , Lymphatic Metastasis/diagnostic imaging , Lymphatic Metastasis/pathology , Middle Aged , Breast Neoplasms/pathology , Breast Neoplasms/diagnostic imaging , Breast Neoplasms/metabolism , Adult , Aged , Adenocarcinoma, Mucinous/diagnostic imaging , Adenocarcinoma, Mucinous/pathology , Adenocarcinoma, Mucinous/metabolism , Adenocarcinoma, Mucinous/secondary , Lymph Nodes/diagnostic imaging , Lymph Nodes/pathology , Ultrasonography/methods , Biomarkers, Tumor/metabolism
15.
J Natl Compr Canc Netw ; 22(2D)2024 May 14.
Article in English | MEDLINE | ID: mdl-38744306

ABSTRACT

BACKGROUND: Although considered a favorable subtype, pure mucinous breast cancer (PMBC) can recur, and evidence for adjuvant therapy is limited. We aimed to compare outcomes of nonmetastatic PMBC with invasive ductal carcinoma (IDC) and invasive lobular carcinoma (ILC) to address these uncertainties. METHODS: Individual patient-level data from 6 centers on stage I-III hormone receptor-positive and HER2-negative PMBC, IDC, and ILC were used to analyze recurrence-free interval (RFI), recurrence-free survival (RFS), and overall survival (OS), and to identify prognostic factors for PMBC. RESULTS: Data from 20,684 IDC cases, 1,475 ILC cases, and 943 PMBC cases were used. Median follow-up was 6.6 years. Five-year RFI, RFS, and OS for PMBC were 96.1%, 94.9%, and 98.1%, respectively. On multivariable Cox regression, PMBC demonstrated superior RFI (hazard ratio [HR], 0.59; 95% CI, 0.43-0.80), RFS (HR, 0.70; 95% CI, 0.56-0.89), and OS (HR, 0.71; 95% CI, 0.53-0.96) compared with IDC. ILC showed comparable outcomes to IDC. Fewer than half (48.7%) of recurrences in PMBC were distant, which was a lower rate than for IDC (67.3%) and ILC (80.6%). In contrast to RFI, RFS events were driven more by non-breast cancer deaths in older patients. Significant prognostic factors for RFI among PMBC included positive lymph node(s) (HR, 2.42; 95% CI, 1.08-5.40), radiotherapy (HR, 0.44; 95% CI, 0.23-0.85), and endocrine therapy (HR, 0.25; 95% CI, 0.09-0.70). No differential chemotherapy associations with outcomes were detected across PMBC subgroups by nodal stage, tumor size, and age. A separate SEER database analysis also did not find any association of improved survival with adjuvant chemotherapy in these subgroups. CONCLUSIONS: Compared with IDC, PMBC demonstrated superior RFI, RFS, and OS. Lymph node negativity, adjuvant radiotherapy, and endocrine therapy were associated with superior RFI. Adjuvant chemotherapy was not associated with better outcomes.


Subject(s)
Adenocarcinoma, Mucinous , Breast Neoplasms , Receptor, ErbB-2 , Receptors, Estrogen , Humans , Female , Receptor, ErbB-2/metabolism , Breast Neoplasms/therapy , Breast Neoplasms/pathology , Breast Neoplasms/mortality , Breast Neoplasms/metabolism , Middle Aged , Aged , Adenocarcinoma, Mucinous/therapy , Adenocarcinoma, Mucinous/pathology , Adenocarcinoma, Mucinous/metabolism , Adenocarcinoma, Mucinous/mortality , Prognosis , Receptors, Estrogen/metabolism , Adult , Receptors, Progesterone/metabolism , Neoplasm Staging , Carcinoma, Ductal, Breast/therapy , Carcinoma, Ductal, Breast/pathology , Carcinoma, Ductal, Breast/mortality , Carcinoma, Ductal, Breast/metabolism , Cohort Studies , Carcinoma, Lobular/therapy , Carcinoma, Lobular/pathology , Carcinoma, Lobular/metabolism , Carcinoma, Lobular/mortality , Neoplasm Recurrence, Local/pathology , Neoplasm Recurrence, Local/epidemiology
16.
Clin Transl Med ; 14(5): e1701, 2024 May.
Article in English | MEDLINE | ID: mdl-38778448

ABSTRACT

BACKGROUND: Mucinous colorectal adenocarcinoma (MCA) is a distinct subtype of colorectal cancer (CRC) with the most aggressive pattern, but effective treatment of MCA remains a challenge due to its vague pathological characteristics. An in-depth understanding of transcriptional dynamics at the cellular level is critical for developing specialised MCA treatment strategies. METHODS: We integrated single-cell RNA sequencing and spatial transcriptomics data to systematically profile the MCA tumor microenvironment (TME), particularly the interactome of stromal and immune cells. In addition, a three-dimensional bioprinting technique, canonical ex vivo co-culture system, and immunofluorescence staining were further applied to validate the cellular communication networks within the TME. RESULTS: This study identified the crucial intercellular interactions that engaged in MCA pathogenesis. We found the increased infiltration of FGF7+/THBS1+ myofibroblasts in MCA tissues with decreased expression of genes associated with leukocyte-mediated immunity and T cell activation, suggesting a crucial role of these cells in regulating the immunosuppressive TME. In addition, MS4A4A+ macrophages that exhibit M2-phenotype were enriched in the tumoral niche and high expression of MS4A4A+ was associated with poor prognosis in the cohort data. The ligand-receptor-based intercellular communication analysis revealed the tight interaction of MUC1+ malignant cells and ZEB1+ endothelial cells, providing mechanistic information for MCA angiogenesis and molecular targets for subsequent translational applications. CONCLUSIONS: Our study provides novel insights into communications among tumour cells with stromal and immune cells that are significantly enriched in the TME during MCA progression, presenting potential prognostic biomarkers and therapeutic strategies for MCA. KEY POINTS: Tumour microenvironment profiling of MCA is developed. MUC1+ tumour cells interplay with FGF7+/THBS1+ myofibroblasts to promote MCA development. MS4A4A+ macrophages exhibit M2 phenotype in MCA. ZEB1+ endotheliocytes engage in EndMT process in MCA.


Subject(s)
Adenocarcinoma, Mucinous , Colorectal Neoplasms , Mucin-1 , Single-Cell Analysis , Tumor Microenvironment , Humans , Colorectal Neoplasms/metabolism , Colorectal Neoplasms/genetics , Colorectal Neoplasms/pathology , Tumor Microenvironment/genetics , Single-Cell Analysis/methods , Adenocarcinoma, Mucinous/metabolism , Adenocarcinoma, Mucinous/genetics , Adenocarcinoma, Mucinous/pathology , Mucin-1/genetics , Mucin-1/metabolism , Cell Communication/genetics
17.
Anticancer Res ; 44(6): 2689-2698, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38821605

ABSTRACT

BACKGROUND/AIM: There are two main subtypes of mucinous carcinoma (MC) based on the quantification of the mucinous component: the pure variant (pMC) and the mixed variant (mMC). pMC has been subdivided into pure A with a hypocellular variant, and pure B with a hypercellular variant. PATIENTS AND METHODS: We retrospectively analyzed the clinicopathological features of 99 patients with MC who were treated at our institution from January 2002 to December 2014. We evaluated the expression profiles of markers, including mucin (MUC) family members, in the patients groups representing different MC subtypes by performing immunohistochemistry to identify factors involved in the differentiation and progression of MCs. RESULTS: Among the 99 patients, 76 (76.8%) had pure mucinous carcinomas (pMC) and the other 23 (23.2%) had mixed mucinous carcinomas (mMC). Of the pMCs, 54 were pure A and 22 were pure B. The prognosis was worse for pure B than pure A and worse for mMC than pMC. Although there was no significant difference in clinicopathological factors between the pure A and pure B groups, immunohistochemical staining revealed differences in the localization of mucin MUC1 and ß-catenin. A comparison of the pMC and mMC cases revealed more lymphovascular invasion in mMC and differences in the localization of ß-catenin between the two groups. CONCLUSION: The patients' prognoses were significantly poorer depending on the histologic subtype (in the order pure A, pure B, and mixed). MUC1 localization and ß-catenin were revealed as independent predictors contributing to the poorer prognosis.


Subject(s)
Adenocarcinoma, Mucinous , Biomarkers, Tumor , Breast Neoplasms , Mucin-1 , beta Catenin , Humans , Mucin-1/metabolism , Female , beta Catenin/metabolism , Adenocarcinoma, Mucinous/metabolism , Adenocarcinoma, Mucinous/pathology , Middle Aged , Aged , Breast Neoplasms/pathology , Breast Neoplasms/metabolism , Retrospective Studies , Biomarkers, Tumor/metabolism , Prognosis , Adult , Immunohistochemistry , Aged, 80 and over
18.
Eur J Surg Oncol ; 50(7): 108373, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38761511

ABSTRACT

For peritoneal metastases from a primary appendiceal mucinous neoplasm to exist, the thin wall of the appendix must perforate to allow mucus or mucus plus tumor cells to gain access to the peritoneal spaces. The proportion of specimens containing tumor cells within mucus as compared to mucus only outside the appendix may have prognostic significance. The histopathology of tumor masses was determined from the specimens resected at the cytoreductive surgery (CRS). The presence versus absence of tumor cells in mucus and the proportion of specimens with tumor cells was determined and correlated with the overall survival of these patients. In 418 patients with a complete cytoreduction for a low-grade appendiceal mucinous neoplasm (LAMN), the cellularity of all resected specimens was determined. The hazard ratio of overall survival of patients whose specimens had no cells as compared to specimens with cells in mucus by histology was 4.41 (1.61, 12.1) (p = 0.0039). If overall survival of patients with all specimens without tumor cells was compared to patients with specimens with 1-99 % tumor and compared to patients with 100 % of specimens with tumor cells, the hazard ratios were 4.3 (1.34, 13.8) (p = 0.0143) and 9.62 (2.93, 31.6) (p = 0.0002), respectively. The cellularity of mucus within the specimens removed by a complete CRS has strong prognostic implications in LAMN patients. LAMN with acellular specimens (LAMNa) as compared to LAMN with tumor cells in specimens (LAMNb) should be staged as different histologic subtypes of mucinous appendiceal neoplasms.


Subject(s)
Adenocarcinoma, Mucinous , Appendiceal Neoplasms , Cytoreduction Surgical Procedures , Mucus , Peritoneal Neoplasms , Humans , Appendiceal Neoplasms/pathology , Mucus/metabolism , Adenocarcinoma, Mucinous/pathology , Adenocarcinoma, Mucinous/surgery , Prognosis , Female , Male , Middle Aged , Peritoneal Neoplasms/secondary , Peritoneal Neoplasms/pathology , Aged , Neoplasm Grading , Adult , Survival Rate , Retrospective Studies
19.
BMC Womens Health ; 24(1): 300, 2024 May 20.
Article in English | MEDLINE | ID: mdl-38769573

ABSTRACT

BACKGROUND: Concomitant invasive ovarian mucinous adenocarcinoma, unilateral renal agenesis and bicornuate uterus is a rare combination. Unilateral renal agenesis has been associated with genital anomalies, such as unicornuate and bicornuate uterus. Furthermore, a wealth of studies has reported the association between unicornuate uterus and ovarian anomalies, such as the absence of an ovary or ectopic ovaries, but rarely has there been a combination of the three to the best of our knowledge. The present case report is the first case presentation with a combination of the three syndromes: ovarian mucinous tumor, unilateral renal agenesis, and bicornuate uterus. CASE PRESENTATION: We report the case of a 17-year-old who presented with abdominal distension. On examination, a CT scan revealed a large multicystic abdominal mass on the right side, with an absence of the right kidney while the left kidney was normal in size, appearance, and position. Intraoperatively, massive blood-stained ascitic fluid was evacuated. Additionally, a large whitish polycystic intra-abdominal mass with mucus-like materials and solid areas was attached to the midpoint of the colon and the right ovary, with visible metastasis to the omentum. The uterus was bicornuate. The mass and omentum were taken for histopathology and a diagnosis of invasive ovarian mucinous cystadenocarcinoma with metastasis to the colon and omentum was made after a pathological report. CONCLUSIONS: The presence of these conditions in the same individual could potentially complicate medical management and fertility considerations. Thus, a need for a multidisciplinary medical team, including gynecologists, urologists, and oncologists, to address their unique needs and provide appropriate treatment and guidance. Further research and case studies are needed to better understand the possible association and implications of these rare co-occurring conditions.


Subject(s)
Adenocarcinoma, Mucinous , Bicornuate Uterus , Ovarian Neoplasms , Uterus , Adolescent , Female , Humans , Adenocarcinoma, Mucinous/complications , Adenocarcinoma, Mucinous/diagnosis , Adenocarcinoma, Mucinous/pathology , Bicornuate Uterus/complications , Congenital Abnormalities , Kidney/abnormalities , Kidney/pathology , Ovarian Neoplasms/complications , Ovarian Neoplasms/pathology , Solitary Kidney/complications , Tomography, X-Ray Computed , Uterus/abnormalities , Uterus/pathology
20.
JCO Glob Oncol ; 10: e2300393, 2024 May.
Article in English | MEDLINE | ID: mdl-38754054

ABSTRACT

PURPOSE: Ovarian cancer can be categorized into distinct histologic subtypes with varying identifiable risk factors, molecular composition, clinical features, and treatment. The global incidence of ovarian cancer subtypes remains limited, especially in low- and middle-income countries (LMICs) without high-quality cancer registry systems. MATERIALS AND METHODS: We used data from population-based cancer registries of the Cancer Incidence in Five Continents project to calculate the proportions of serous, mucinous, endometrioid, clear cell, and other histologic subtypes of ovarian cancer. Proportions were applied to the estimated numbers of patients with ovarian cancer from Global Cancer Observatory 2020. Age-standardized incidence rates were calculated. RESULTS: Globally, an estimated 133,818 new patients of serous cancer, 35,712 new patients of mucinous cancer, 29,319 new patients of endometrioid cancer, and 17,894 new patients of clear cell cancer were identified in 2020. The distribution of ovarian cancer histologic subtypes exhibited regional variation. Eastern Europe had the highest rate of serous and mucinous carcinomas, whereas Northern Africa and Eastern Asia had the highest burden of endometrioid and clear cell carcinomas, respectively. CONCLUSION: This study provides a global incidence landscape of histologic subtypes of ovarian cancer, particularly in LMICs lacking comprehensive registry systems. Our analysis offers valuable insights into disease burden and guidance for tailored strategies for prevention of ovarian cancer.


Subject(s)
Ovarian Neoplasms , Registries , Humans , Female , Ovarian Neoplasms/epidemiology , Ovarian Neoplasms/pathology , Registries/statistics & numerical data , Incidence , Middle Aged , Global Health/statistics & numerical data , Adult , Aged , Adenocarcinoma, Mucinous/epidemiology , Adenocarcinoma, Mucinous/pathology , Carcinoma, Endometrioid/epidemiology , Carcinoma, Endometrioid/pathology , Adenocarcinoma, Clear Cell/epidemiology , Adenocarcinoma, Clear Cell/pathology
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