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1.
Pan Afr Med J ; 47: 14, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38524106

RESUMO

Mucin-producing adenocarcinomas (MAC) are an extremely rare, indistinct group of neoplasm having either a salivary gland origin or with prominent glandular component. The diagnosis is chiefly based on the histological aspect conjoined with immunohistochemical evaluation as clinico-radiographical features are non-specific. It can arise as a primary metastasis to soft tissues, most commonly from either lung, breast, kidney, or colon. This paper reports a 51-year-old woman with buccolingual gingival swelling having a final diagnosis of metastatic mucinous adenocarcinoma from the breast. A tissue biopsy was performed followed by immunohistochemistry that confirmed the diagnosis. They are extremely rare, making the diagnosis challenging as it may mimic a benign neoplasm. It accounts for approximately 1% of all oral malignant neoplasms having gingival propensity. The clinician should therefore take into account every diagnostic aspect while encountering such oral lesions to achieve proper patient welfare.


Assuntos
Adenocarcinoma Mucinoso , Neoplasias Gengivais , Granuloma Piogênico , Neoplasias Bucais , Feminino , Humanos , Pessoa de Meia-Idade , Neoplasias Gengivais/diagnóstico , Neoplasias Gengivais/patologia , Neoplasias Gengivais/secundário , Gengiva/patologia , Granuloma Piogênico/diagnóstico , Adenocarcinoma Mucinoso/diagnóstico , Adenocarcinoma Mucinoso/patologia
3.
J Nucl Med ; 65(1): 52-58, 2024 Jan 02.
Artigo em Inglês | MEDLINE | ID: mdl-38167622

RESUMO

Pancreatic intraductal papillary mucinous neoplasms (IPMNs) are grossly visible (typically > 5 mm) intraductal epithelial neoplasms of mucin-producing cells, arising in the main pancreatic duct or its branches. According to the current 2-tiered grading scheme, these lesions are categorized as having either low-grade (LG) dysplasia, which has a benign prognosis, or high-grade (HG) dysplasia, which formally represents a carcinoma in situ and thus can transform to pancreatic ductal adenocarcinoma (PDAC). Because both entities require different treatments according to their risk of becoming malignant, a precise pretherapeutic diagnostic differentiation is inevitable for adequate patient management. Recently, our group has demonstrated that 68Ga-fibroblast activation protein (FAP) inhibitor (FAPI) PET/CT shows great potential for the differentiation of LG IPMNs, HG IPMNs, and PDAC according to marked differences in signal intensity and tracer dynamics. The purpose of this study was to biologically validate FAP as a target for PET imaging by analyzing immunohistochemical FAP expression in LG IPMNs, HG IPMNs, and PDAC and comparing with SUV and time to peak (TTP) measured in our prior study. Methods: To evaluate the correlation of the expression level of FAP and α-smooth muscle actin (αSMA) in neoplasm-associated stroma depending on the degree of dysplasia in IPMNs, 98 patients with a diagnosis of LG IPMN, HG IPMN, PDAC with associated HG IPMN, or PDAC who underwent pancreatic surgery at the University Hospital Heidelberg between 2017 and 2023 were identified using the database of the Institute of Pathology, University Hospital Heidelberg. In a reevaluation of hematoxylin- and eosin-stained tissue sections of formalin-fixed and paraffin-embedded resection material from the archive, which was originally generated for histopathologic routine diagnostics, a regrading of IPMNs was performed by a pathologist according to the current 2-tiered grading scheme, consequently eliminating the former diagnosis of "IPMN with intermediate-grade dysplasia." For each case, semithin tissue sections of 3 paraffin blocks containing neoplasm were immunohistologically stained with antibodies directed against FAP and αSMA. In a masked approach, a semiquantitative analysis of the immunohistochemically stained slides was finally performed by a pathologist by adapting the immunoreactive score (IRS) and human epidermal growth factor receptor 2 (Her2)/neu score to determine the intensity and percentage of FAP- and αSMA-positive cells. Afterward, the IRS of 14 patients who underwent 68Ga-FAPI-74 PET/CT in our previous study was compared with their SUVmax, SUVmean, and TTP for result validation. Results: From 98 patients, 294 specimens (3 replicates per patient) were immunohistochemically stained for FAP and αSMA. Twenty-three patients had LG IPMNs, 11 had HG IPMNs, 10 had HG IPMNs plus PDAC, and 54 had PDAC. The tumor stroma was in all cases variably positive for FAP. The staining intensity, percentage of FAP-positive stroma, IRS, and Her2/neu score increased with higher malignancy. αSMA expression could be shown in normal pancreatic stroma as well as within peri- and intraneoplastic desmoplastic reaction. No homogeneous increase in intensity, percentage, IRS, and Her2/neu score with higher malignancy was observed for αSMA. The comparison of the mean IRS of FAP with the mean SUVmax, SUVmean, and TTP of 68Ga-GAPI-74 PET/CT showed a matching value increasing with higher malignancy in 68Ga-FAPI-74 PET imaging and immunohistochemical FAP expression. Conclusion: The immunohistochemical staining of IPMNs and PDAC validates FAP as a biology-based stromal target for in vivo imaging. Increasing expression of FAP in lesions with a higher degree of malignancy matches the expectation of a stronger FAP expression in PDAC and HG IPMNs than in LG IPMNs and corroborates our previous findings of higher SUVs and a longer TTP in PDAC and HG IPMNs than in LG IPMNs.


Assuntos
Adenocarcinoma Mucinoso , Carcinoma Ductal Pancreático , Neoplasias Intraductais Pancreáticas , Neoplasias Pancreáticas , Humanos , Radioisótopos de Gálio , Neoplasias Intraductais Pancreáticas/diagnóstico por imagem , Neoplasias Intraductais Pancreáticas/patologia , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Adenocarcinoma Mucinoso/diagnóstico , Adenocarcinoma Mucinoso/patologia , Adenocarcinoma Mucinoso/cirurgia , Neoplasias Pancreáticas/metabolismo , Carcinoma Ductal Pancreático/diagnóstico por imagem , Carcinoma Ductal Pancreático/metabolismo , Ductos Pancreáticos/metabolismo , Ductos Pancreáticos/patologia , Tomografia por Emissão de Pósitrons
4.
Int J Gynecol Pathol ; 43(2): 123-133, 2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-37406366

RESUMO

Expression of neuroendocrine (NE) markers in primary ovarian non-NE epithelial tumors has rarely been evaluated. The aim of our study was to evaluate the expression of the most widely used NE markers in these neoplasms and to determine any prognostic significance of NE marker expression. The cohort consisted of 551 primary ovarian tumors, including serous borderline tumors, low-grade serous carcinomas, high-grade serous carcinomas (HGSC), clear cell carcinomas, endometroid carcinomas, mucinous borderline tumors, and mucinous carcinomas. Immunohistochemical analysis was performed using antibodies against INSM1, synaptophysin, chromogranin, and CD56 on tissue microarray. Positivity for INSM1, synaptophysin, chromogranin, and CD56 was most frequently observed in mucinous tumors (48.7%, 26.0%, 41.5%, and 100%, respectively). The positivity for these NE markers was mostly restricted to nonmucinous elements distributed throughout the tumor. The mucinous borderline tumor and mucinous carcinomas groups had similar proportions of positivity (mucinous borderline tumor: 53%, mucinous carcinomas: 39%). In the other tumor types, except for HGSC, there was only focal expression (5%-10%) or negativity for NE markers. HGSC showed high CD56 expression (in 26% of cases). Survival analysis was only performed for CD56 in HGSC as this was the only group with sufficient positive cases, and it showed no prognostic significance. Except for mucinous tumors, expression of NE markers in non-NE ovarian epithelial tumors is low. CD56 expression in HGSC occurs frequently but is without diagnostic or prognostic value.


Assuntos
Adenocarcinoma Mucinoso , Tumores Neuroendócrinos , Neoplasias Ovarianas , Feminino , Humanos , Sinaptofisina/metabolismo , Biomarcadores Tumorais/metabolismo , Cromograninas , Tumores Neuroendócrinos/patologia , Neoplasias Ovarianas/patologia , Adenocarcinoma Mucinoso/diagnóstico , Proteínas Repressoras/metabolismo
5.
Int J Gynecol Pathol ; 43(2): 111-122, 2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-37406453

RESUMO

Ovarian mucinous borderline tumors (MBTs) are clinically managed as benign neoplasms while the management of ovarian mucinous carcinomas (MC) is dependent on tumor stage. Despite the standardization of sampling of ovarian mucinous neoplasms, limited interobserver reproducibility between MBT and MC persists. Based on our recent finding that abnormal TP53 expression is associated with unfavorable outcome in MBT, we hypothesized that TP53 status might improve the reproducible distinction of MBT from MC. A virtual slide set of 85 consecutive ovarian mucinous neoplasms received at a single institution, with each case represented by 3 full sections, were reviewed by 3 pathologists in 2 iterations. The initial assessment was based solely on morphologic review, while the second iteration was performed with knowledge of TP53 status. The reproducibility of a trinary categorization (MBT, MBT with intraepithelial carcinoma [IEC], MC) significantly improved from a κ of 0.60 based on the initial morphologic assessment to a κ of 0.76 (t-test, P =0.0042) after consideration of TP53 immunohistochemistry (IHC) results. Six out of 85 patients died of disease, and in 2 of them, at least 1 pathologist assessed MBT with IEC and not MC even after integration of TP53 IHC. With the integration of TP53 IHC, substantial interobserver agreement for MBT and MC can be reached, particularly in cases with an uncertain degree of confluent growth. TP53 IHC can also be used to highlight and support the presence of IEC in MBT, however, discordances remained in 2 cases with adverse outcome.


Assuntos
Adenocarcinoma Mucinoso , Carcinoma in Situ , Neoplasias Ovarianas , Feminino , Humanos , Reprodutibilidade dos Testes , Neoplasias Ovarianas/patologia , Adenocarcinoma Mucinoso/diagnóstico , Adenocarcinoma Mucinoso/patologia , Carcinoma Epitelial do Ovário/diagnóstico , Carcinoma in Situ/patologia , Proteína Supressora de Tumor p53/metabolismo
6.
Am J Dermatopathol ; 46(2): 114-120, 2024 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-38055969

RESUMO

ABSTRACT: Primary mucinous carcinoma of the skin (PMCS) is a rare malignant neoplasm of sweat gland origin, with an incidence of 0.07 per million. Histologically, it may be difficult to differentiate it from metastatic mucinous carcinomas of the skin. A case of PMCS is reported here in a 59-year-old woman who presented with a lesion on the right lower eyelid. Histological examination revealed features of mucinous adenocarcinoma. The main differential diagnosis was metastatic mucinous adenocarcinoma; however, the lack of colorectal and lung markers and the presence of focal in situ components were consistent with the diagnosis of PMCS. PMCS and breast mucinous carcinoma share immunohistochemical markers, such as GCDFP-15 and mammaglobin; however, focal in situ component with the presence of myoepithelial cells in the tumor ruled out metastatic mucinous carcinoma of breast origin. The subsequent mammograms did not reveal any breast lesions. Colonoscopy did not show any evidence of colonic malignancy, and imaging studies (CT scan) did not show any evidence of neoplasm in the body. These findings were in keeping with a diagnosis of PMCS. The present case emphasizes the importance of clinicopathological correlation, histopathology, and immunohistochemistry in the accurate diagnosis of PMCS and summarizes the literature on these rare cutaneous neoplasms.


Assuntos
Adenocarcinoma Mucinoso , Neoplasias da Mama , Neoplasias Cutâneas , Feminino , Humanos , Pessoa de Meia-Idade , Diagnóstico Diferencial , Neoplasias Cutâneas/patologia , Pele/patologia , Adenocarcinoma Mucinoso/diagnóstico , Adenocarcinoma Mucinoso/patologia , Neoplasias da Mama/diagnóstico
8.
Ter Arkh ; 95(8): 686-691, 2023 Oct 11.
Artigo em Russo | MEDLINE | ID: mdl-38158906

RESUMO

A clinical case of a 71-year-old patient with intraductal papillary mucinous neoplasia (IPMN) is presented. The diagnosis was established using endoscopic retrograde cholangiopancreatography, magnetic resonance imaging, computed tomography. Asymptomatic course, absence of pain syndrome, obstruction, exocrine and endocrine pancreatic failure, relatively satisfactory general health, but the presence of structural changes: an increase cyst in the head of the pancreas measuring 27×23 mm, expansion of the main pancreatic duct up to 13 mm raised doubts about the choice of treatment tactics, the need for surgical intervention. To exclude the risk of malignancy and the choice of treatment tactics, a fine-needle aspiration biopsy was performed, a cytological examination of the material, an expert opinion determined the scope of the surgical intervention. IPMN is a rather rare tumor of the pancreas. For a long time, IPMN flow "under the guise" of chronic pancreatitis. Depending on the type of degree of dysplasia and invasiveness of IPMN, the tactics of treatment and the volume of surgical intervention are determined. High-tech methods provide high information content in the diagnosis of IPMN. But only a morphological study allows you to determine the tactics of treatment.


Assuntos
Adenocarcinoma Mucinoso , Carcinoma Ductal Pancreático , Neoplasias Intraductais Pancreáticas , Neoplasias Pancreáticas , Humanos , Idoso , Carcinoma Ductal Pancreático/diagnóstico , Carcinoma Ductal Pancreático/cirurgia , Carcinoma Ductal Pancreático/patologia , Neoplasias Intraductais Pancreáticas/diagnóstico , Neoplasias Intraductais Pancreáticas/cirurgia , Adenocarcinoma Mucinoso/diagnóstico , Adenocarcinoma Mucinoso/cirurgia , Adenocarcinoma Mucinoso/patologia , Neoplasias Pancreáticas/diagnóstico , Neoplasias Pancreáticas/cirurgia , Neoplasias Pancreáticas/patologia , Pâncreas
9.
Int J Mol Sci ; 24(21)2023 Nov 06.
Artigo em Inglês | MEDLINE | ID: mdl-37958997

RESUMO

Epithelial ovarian cancers (EOCs) are a heterogeneous collection of malignancies, each with their own developmental origin, clinical behavior and molecular profile. With less than 5% of EOC cases, mucinous ovarian carcinoma is a rare form with a poor prognosis and a 5-year survival of 11% for advanced stages (III/IV). At the early stages, these malignant forms are clinically difficult to distinguish from borderline (15%) and benign (80%) forms with a better prognosis due to the large size and heterogeneity of mucinous tumors. Improving their diagnosis is therefore a challenge with regard to the risk of under-treating a malignant form or of unnecessarily undertaking radical surgical excision. The involvement of microRNAs (miRNAs) in tumor progression and their potential as biomarkers of diagnosis are becoming increasingly recognized. In this study, the comparison of miRNA microarray expression profiles between malignant and borderline tumor FFPE samples identified 10 down-regulated and 5 up-regulated malignant miRNAs, which were validated by individual RT-qPCR. To overcome normalization issues and to improve the accuracy of the results, a ratio analysis combining paired up-regulated and down-regulated miRNAs was performed. Although 21/50 miRNA expression ratios were significantly different between malignant and borderline tumor samples, any ratio could perfectly discriminate the two groups. However, a combination of 14 pairs of miRNA ratios (double ratio) showed high discriminatory potential, with 100% of accuracy in distinguishing malignant and borderline ovarian tumors, which suggests that miRNAs may hold significant clinical potential as a diagnostic tool. In summary, these ratio miRNA-based signatures may help to improve the precision of histological diagnosis, likely to provide a preoperative diagnosis in order to adapt surgical procedures.


Assuntos
Adenocarcinoma Mucinoso , MicroRNAs , Neoplasias Císticas, Mucinosas e Serosas , Neoplasias Ovarianas , Lesões Pré-Cancerosas , Feminino , Humanos , MicroRNAs/genética , Neoplasias Ovarianas/diagnóstico , Neoplasias Ovarianas/genética , Neoplasias Ovarianas/metabolismo , Carcinoma Epitelial do Ovário , Adenocarcinoma Mucinoso/diagnóstico , Adenocarcinoma Mucinoso/genética , Adenocarcinoma Mucinoso/patologia , Biomarcadores Tumorais/genética , Biomarcadores Tumorais/metabolismo
10.
Cutis ; 112(3): E6-E10, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37903397

RESUMO

Endocrine mucin-producing sweat gland carcinoma (EMPSGC) and primary cutaneous mucinous carcinoma (PCMC) are rare low-grade neoplasms thought to arise from apocrine glands that share many histological features and are proposed to be on a single histopathologic continuum, with EMPSGC as the in situ form that may progress to the invasive PCMC. Management involves a metastatic workup and either wide local excision (WLE) with greater than 5 mm margins or Mohs micrographic surgery (MMS) in anatomically sensitive areas. We present 2 cases of EMPSGC and 3 cases of PCMC and review their clinical and histopathologic features, differential diagnoses, and treatment.


Assuntos
Adenocarcinoma Mucinoso , Carcinoma de Apêndice Cutâneo , Neoplasias Cutâneas , Neoplasias das Glândulas Sudoríparas , Humanos , Adenocarcinoma Mucinoso/diagnóstico , Adenocarcinoma Mucinoso/cirurgia , Adenocarcinoma Mucinoso/patologia , Neoplasias das Glândulas Sudoríparas/diagnóstico , Neoplasias das Glândulas Sudoríparas/cirurgia , Neoplasias das Glândulas Sudoríparas/patologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/cirurgia , Neoplasias Cutâneas/patologia , Glândulas Sudoríparas/patologia , Mucinas
11.
Cancer Cytopathol ; 131(12): 781-790, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37676090

RESUMO

BACKGROUND: Diagnosis of mucinous carcinomas in the lung on transbronchial biopsy or fine-needle aspiration (FNA) samples can be difficult for the pathologist, because primary and metastatic tumors can have similar morphological, immunohistochemical, and molecular characteristics. Correct diagnosis is key to determine appropriate therapy and to distinguish primary from metastatic disease. This distinction often falls to the pathologist in patients with a history of mucinous adenocarcinoma of the colon. Despite its drawbacks, immunohistochemistry is often employed to help assign a primary site for mucinous adenocarcinomas in the lung. However, the published data in this regard is limited to studies that use only a handful of markers. METHODS: The authors examined the staining characteristics and heterogeneity of CK7, TTF-1, NapsinA, CK20, CDX2, and SATB2 in resection specimens of pulmonary adenocarcinomas with mucinous features and metastatic colorectal adenocarcinoma. RESULTS: Based on the heterogeneity, sensitivity, and specificity in this cohort, the authors developed a decision tree based on TTF-1, SATB2, CDX2, and CK7 to categorize tumors as primary or metastatic lesions. Validation of the decision tree in FNA specimens from the lungs and lung-draining lymph nodes showed 84% concurrence in cases from the lung and 100% concurrence in cases from the lymph node. In cases where the algorithm assigned a primary site, it was 95% accurate compared to the multidisciplinary diagnosis. CONCLUSIONS: This method holds promise in distinguishing primary versus metastatic lesions in resection, biopsy, and FNA samples from the lungs.


Assuntos
Adenocarcinoma de Pulmão , Adenocarcinoma Mucinoso , Adenocarcinoma , Neoplasias Colorretais , Neoplasias Pulmonares , Humanos , Queratinas , Biomarcadores Tumorais , Adenocarcinoma/diagnóstico , Adenocarcinoma de Pulmão/diagnóstico , Neoplasias Colorretais/diagnóstico , Adenocarcinoma Mucinoso/diagnóstico , Neoplasias Pulmonares/patologia , Árvores de Decisões , Diagnóstico Diferencial
12.
Gan To Kagaku Ryoho ; 50(7): 809-812, 2023 Jul.
Artigo em Japonês | MEDLINE | ID: mdl-37496226

RESUMO

Appendiceal mucinous neoplasm is a relatively rare disease. It is classified as mucinous adenocarcinoma(MACA)and low- grade appendiceal mucinous neoplasm(LAMN). We retrospectively evaluated 16 cases of appendiceal mucinous neoplasm (LAMN: 13 cases, MACA: 3 cases)that were surgically resected in our hospital between January 2010 and July 2021. There were 7 men and 9 women, with a median age of 61 years(27-85 years). The most common chief complaint was abdominal pain(12 patients), while 3 cases were incidental findings following medical checkups for other diseases and without a chief complaint. Colonoscopy was performed for 9 cases. Of these, 5 revealed abnormal findings. The preoperative diagnosis was appendicitis in 7 patients and appendiceal tumor in 8 patients. The surgical procedures were planned for 8 cases and performed as emergencies in 8 cases. The procedures included laparoscopic surgery(n=6)and laparotomy(n=10). The resection range included appendectomy(n=9), partial cecal resection(n=4), and ileocecal resection(n=3). Surgical margins were negative in all cases. Metastases were not observed in patients who underwent lymph node dissections (2 patients with MACA and 1 patient with LAMN). The median follow-up was 17 months(1-43 months). Recurrence including peritoneal pseudomyxoma was not detected in any of the patients.


Assuntos
Adenocarcinoma Mucinoso , Neoplasias do Apêndice , Neoplasias Peritoneais , Masculino , Humanos , Feminino , Pessoa de Meia-Idade , Neoplasias Peritoneais/secundário , Estudos Retrospectivos , Neoplasias do Apêndice/patologia , Adenocarcinoma Mucinoso/cirurgia , Adenocarcinoma Mucinoso/diagnóstico , Apendicectomia/métodos
13.
J Gastroenterol ; 58(10): 1068-1080, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37507590

RESUMO

BACKGROUND: Trajectories of serological and morphological signatures have not been documented in pancreatic carcinogenesis related to intraductal papillary mucinous neoplasms (IPMNs). METHODS: Using a prospective cohort of 3437 IPMN patients, we identified 100 IPMN patients who developed pancreatic carcinomas during long-term surveillance. We examined serial changes of blood markers (carbohydrate antigen 19-9 [CA19-9], hemoglobin A1c [HbA1c], and pancreatic enzymes) and morphological features (worrisome features and high-risk stigmata) during the prediagnostic period of pancreatic carcinomas, overall and by carcinoma types (IPMN-derived vs. concomitant pancreatic carcinomas). RESULTS: CA19-9 elevation was observed in 39 patients and was associated with a metastatic stage. Compared to IPMN-derived carcinomas, concomitant carcinomas were more likely to represent CA19-9 elevation (60% vs. 30%, respectively; P = 0.005). HbA1c levels elevated only in 3 patients. Pancreatic enzyme elevation was observed in 18 patients with no differences in frequencies between the carcinoma types. All patients with elevated levels of blood markers had positive findings on cross-sectional imaging. High-risk stigmata or worrisome features were observed in all patients but one with concomitant carcinoma. The most common types of worrisome features were the main pancreatic duct dilatation and CA19-9 elevation in IPMN-derived and concomitant carcinomas, respectively. Compared to IPMN-derived carcinomas, concomitant carcinomas were less likely to harbor high-risk stigmata (16% vs. 86%, respectively; P < 0.001). CONCLUSIONS: The usefulness of currently available blood biomarkers was limited in early detection of pancreatic carcinomas related to IPMNs. Morphological alterations were well correlated with long-term risk of IPMN-derived carcinomas, but not with that of concomitant carcinomas.


Assuntos
Adenocarcinoma Mucinoso , Carcinoma Ductal Pancreático , Neoplasias Intraductais Pancreáticas , Neoplasias Pancreáticas , Humanos , Carcinoma Ductal Pancreático/patologia , Neoplasias Intraductais Pancreáticas/patologia , Antígeno CA-19-9 , Hemoglobinas Glicadas , Adenocarcinoma Mucinoso/diagnóstico , Adenocarcinoma Mucinoso/patologia , Estudos Retrospectivos , Neoplasias Pancreáticas/patologia , Ductos Pancreáticos , Neoplasias Pancreáticas
14.
Pathology ; 55(6): 785-791, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37500307

RESUMO

In gynecological neoplasms, immunohistochemical (IHC) expression of p53 is generally an accurate predictor of TP53 mutation status if correctly interpreted by the pathologist. However, the literature concerning cut-offs, frequency and prognostic significance of p53 staining in ovarian mucinous tumours is limited and heterogeneous. We performed an analysis of 123 primary ovarian mucinous tumours including mucinous borderline tumours (MBT), mucinous carcinomas (MC), and tumours with equivocal features between MBT and MC. We assessed p53 expression for the three recognised patterns of aberrant staining in ovarian carcinoma [overexpression ('all'), null and cytoplasmic] but using a recently suggested cut-off for aberrant overexpression in ovarian mucinous tumours (strong nuclear p53 staining in ≥12 consecutive tumour cells) and correlated the results with next generation sequencing (NGS) in all qualitatively sufficient cases (92/123). Aberrant p53 expression was present in 25/75 (33.3%) MBT, 23/33 (69.7%) MC (75% of MC with expansile invasion and 61.5% with infiltrative invasion), and 10/15 (66.7%) tumours equivocal between MBT and MC. Regarding the 92 tumours with paired IHC and mutation results, 86 showed concordant results and six cases were discordant. Three discordant MBT cases showed aberrant expression but were TP53 wild-type on sequencing. Three cases had normal p53 expression but contained a TP53 mutation. Overall, IHC predicted the TP53 mutation status with high sensitivity (94.1%) and specificity (92.7%). The accuracy of IHC was 93.5% with a positive predictive value of 94.1% and a negative predictive value of 92.7%. When comparing MC cases with wild-type TP53 versus those with TP53 mutation, there were no significant differences concerning disease-free survival, local recurrence-free survival, or metastases-free survival (p>0.05). In the MBT subgroup, there were no events for survival analyses. In conclusion, using an independent large sample set of ovarian mucinous tumours, the results of our study confirm that the suggested refined cut-off of strong nuclear p53 staining in ≥12 consecutive tumour cells reflect high accuracy, sensitivity and specificity for an underlying TP53 mutation but the TP53 mutation status has no prognostic significance in either MC or MBT.


Assuntos
Adenocarcinoma Mucinoso , Neoplasias Ovarianas , Feminino , Humanos , Proteína Supressora de Tumor p53/genética , Proteína Supressora de Tumor p53/metabolismo , Imuno-Histoquímica , Neoplasias Ovarianas/diagnóstico , Neoplasias Ovarianas/genética , Neoplasias Ovarianas/metabolismo , Prognóstico , Mutação , Adenocarcinoma Mucinoso/diagnóstico , Adenocarcinoma Mucinoso/genética
15.
J Clin Pathol ; 76(11): 734-739, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37500498

RESUMO

Intraductal papillary mucinous neoplasm (IPMN) of the pancreas is one of the most well-established precursors of pancreatic cancer. Its progression to acquire invasiveness is a complex process, based on the accumulation of morphological and genetic alterations. Recent advances in DNA sequencing also showed that co-occurring IPMNs and pancreatic cancers could be totally independent, further complicating our understanding of this complex scenario. The distinction between IPMN and related pancreatic cancer vs IPMN and co-occurring-but not related-pancreatic cancer is a challenging task in routine diagnostic activity, but may have important implications for precision oncology. Of note, recent multiregional sequencing-based studies focused not only on IPMN multi-step tumourigenesis, but also on the divergent intratumoural heterogeneity of this neoplasm. Globally considered, there are three different situations in which co-occurring IPMNs and invasive carcinomas can be found in the same pancreata, indicated with different terminologies: (1) IPMN-associated carcinoma: this definition indicates a carcinoma arising from an IPMN and can be also defined as IPMN-derived carcinoma, sequential or likely related; (2) independent IPMN and invasive carcinoma: the two lesions are not related, and this situation is defined as concomitant, de novo or likely independent; (3) branch-off pathway, where an invasive carcinoma and an adjacent IPMN develop divergently in a forked fashion from a common ancestral clone. In this review, we aim at clarifying the most important nomenclature/definitions of these different situations, also providing an overview of the molecular state-of-the-art and of the clinical implications of this complex landscape.


Assuntos
Adenocarcinoma Mucinoso , Carcinoma Ductal Pancreático , Neoplasias Intraductais Pancreáticas , Neoplasias Pancreáticas , Humanos , Carcinoma Ductal Pancreático/diagnóstico , Carcinoma Ductal Pancreático/genética , Neoplasias Intraductais Pancreáticas/diagnóstico , Neoplasias Intraductais Pancreáticas/genética , Patologia Molecular , Adenocarcinoma Mucinoso/diagnóstico , Adenocarcinoma Mucinoso/genética , Adenocarcinoma Mucinoso/patologia , Medicina de Precisão , Neoplasias Pancreáticas/diagnóstico , Neoplasias Pancreáticas/genética , Neoplasias Pancreáticas/patologia , Estudos Retrospectivos , Neoplasias Pancreáticas
16.
Chirurgie (Heidelb) ; 94(10): 832-839, 2023 Oct.
Artigo em Alemão | MEDLINE | ID: mdl-37378666

RESUMO

Low-grade appendiceal mucinous neoplasms (LAMN) are rare and are diagnosed in at least 0.13% of appendectomies in Germany, although significant underreporting is likely. Perforation of the tumors can result in abdominal mucinous collections, so-called pseudomyxoma peritonei (PMP). The challenge in the treatment of LAMN is the adequate approach to the incidental finding of these tumors. If a mucinous neoplasm is preoperatively suspected in cases of an acute condition, usually appendicitis, it must be weighed up whether a conservative approach is justifiable or whether immediate appendectomy is necessary. If this is the case, an intraoperative perforation of the appendix must be avoided and the complete abdominal cavity must be inspected for mucin deposits. If conservative treatment is possible, further treatment should take place at a specialized center. If the neoplasm is first found incidentally during surgery, perforation of the appendix should also be avoided and the entire abdominal cavity should be inspected for a PMP. If a PMP is present cytoreduction and hyperthermic intraperitoneal chemotherapy (HIPEC) should be performed in a specialized center. If LAMN are found during the postoperative histological work-up, it should be evaluated whether a perforation was present and mucin collections are noted in the surgical report. In the case of LAMN without evidence of a PMP, appendectomy is the adequate treatment. In cases of intra-abdominal mucinous collections, samples should be taken and further treatment should be performed at a center with sufficient expertise. An ileocecal resection or oncological hemicolectomy is not indicated. After adequate treatment, all patients should receive a follow-up using cross-sectional imaging (preferably magnetic resonance imaging, MRI) and determination of the tumor markers CEA, CA 19-9 and CA 125.


Assuntos
Adenocarcinoma Mucinoso , Neoplasias do Apêndice , Neoplasias Císticas, Mucinosas e Serosas , Neoplasias Peritoneais , Pseudomixoma Peritoneal , Humanos , Neoplasias Peritoneais/patologia , Neoplasias Peritoneais/cirurgia , Adenocarcinoma Mucinoso/diagnóstico , Adenocarcinoma Mucinoso/cirurgia , Achados Incidentais , Pseudomixoma Peritoneal/diagnóstico , Pseudomixoma Peritoneal/terapia , Pseudomixoma Peritoneal/patologia , Neoplasias do Apêndice/diagnóstico , Neoplasias do Apêndice/cirurgia
17.
Invest Radiol ; 58(11): 791-798, 2023 11 01.
Artigo em Inglês | MEDLINE | ID: mdl-37289274

RESUMO

OBJECTIVES: This study proposes and evaluates a deep learning method to detect pancreatic neoplasms and to identify main pancreatic duct (MPD) dilatation on portal venous computed tomography scans. MATERIALS AND METHODS: A total of 2890 portal venous computed tomography scans from 9 institutions were acquired, among which 2185 had a pancreatic neoplasm and 705 were healthy controls. Each scan was reviewed by one in a group of 9 radiologists. Physicians contoured the pancreas, pancreatic lesions if present, and the MPD if visible. They also assessed tumor type and MPD dilatation. Data were split into a training and independent testing set of 2134 and 756 cases, respectively.A method to detect pancreatic lesions and MPD dilatation was built in 3 steps. First, a segmentation network was trained in a 5-fold cross-validation manner. Second, outputs of this network were postprocessed to extract imaging features: a normalized lesion risk, the predicted lesion diameter, and the MPD diameter in the head, body, and tail of the pancreas. Third, 2 logistic regression models were calibrated to predict lesion presence and MPD dilatation, respectively. Performance was assessed on the independent test cohort using receiver operating characteristic analysis. The method was also evaluated on subgroups defined based on lesion types and characteristics. RESULTS: The area under the curve of the model detecting lesion presence in a patient was 0.98 (95% confidence interval [CI], 0.97-0.99). A sensitivity of 0.94 (469 of 493; 95% CI, 0.92-0.97) was reported. Similar values were obtained in patients with small (less than 2 cm) and isodense lesions with a sensitivity of 0.94 (115 of 123; 95% CI, 0.87-0.98) and 0.95 (53 of 56, 95% CI, 0.87-1.0), respectively. The model sensitivity was also comparable across lesion types with values of 0.94 (95% CI, 0.91-0.97), 1.0 (95% CI, 0.98-1.0), 0.96 (95% CI, 0.97-1.0) for pancreatic ductal adenocarcinoma, neuroendocrine tumor, and intraductal papillary neoplasm, respectively. Regarding MPD dilatation detection, the model had an area under the curve of 0.97 (95% CI, 0.96-0.98). CONCLUSIONS: The proposed approach showed high quantitative performance to identify patients with pancreatic neoplasms and to detect MPD dilatation on an independent test cohort. Performance was robust across subgroups of patients with different lesion characteristics and types. Results confirmed the interest to combine a direct lesion detection approach with secondary features such as the MPD diameter, thus indicating a promising avenue for the detection of pancreatic cancer at early stages.


Assuntos
Adenocarcinoma Mucinoso , Carcinoma Ductal Pancreático , Aprendizado Profundo , Neoplasias Pancreáticas , Humanos , Dilatação , Adenocarcinoma Mucinoso/diagnóstico , Adenocarcinoma Mucinoso/patologia , Neoplasias Pancreáticas/diagnóstico , Carcinoma Ductal Pancreático/diagnóstico , Pâncreas/diagnóstico por imagem , Pâncreas/patologia , Ductos Pancreáticos/diagnóstico por imagem , Ductos Pancreáticos/patologia , Tomografia Computadorizada por Raios X/métodos , Estudos Retrospectivos , Neoplasias Pancreáticas
18.
Medicine (Baltimore) ; 102(21): e33840, 2023 May 26.
Artigo em Inglês | MEDLINE | ID: mdl-37233442

RESUMO

RATIONALE: Intraductal papillary mucinous neoplasms (IPMN) of the accessory pancreatic duct (APD) are very rare and their clinical significance is not known. Here, we describe a case of IPMN originating in a branch of the duct of APD within the uncinate process of the pancreas, which initially presented with acute pancreatitis. PATIENT CONCERNS: A 70-year-old man visited our medical center presenting with acute pancreatitis around the head and uncinate process of the pancreas. DIAGNOSES: Computer tomography scans revealed the presence of a 35-mm cystic mass-like lesion within the pancreas uncinate process communicating with a branch of the APD. The patient was diagnosed with APD-IPMN in the pancreas uncinate process accompanied by acute pancreatitis. INTERVENTIONS: Conservative management of the acute pancreatitis relieved his symptoms, while duodenum-preserving partial pancreatic head resection (DPPHR-P) was performed to treat the APD-IPMN. Intraoperative exploration showed the presence of severe adhesions within the uncinate process of the pancreas and that the tumor's "peduncle" - a branch of the duct of APD - was saddling just at the front of the main pancreatic ducts. Thus, surgical removal of the tumor required special handling of the region between the main duct (MD) and APD to protect the integrity of the main pancreatic ducts. Finally, a 35*30*15 mm IPMN was successfully removed and the MD was preserved combined with ligation from the root of the APD of the pancreas. The drainage volume of the ventral tube increased by around 20-fold in 24 hours on the fourth day after surgery. The presence of high amylase levels in the drainage discharge (40713.5 U/L) led to the diagnosis of postoperative pancreatic fistula (POPF). The drainage volume remained high for 3 days. OUTCOMES: The patient was discharged and POPF was successfully managed through endoscopic pancreatic duct stenting. LESSONS: APD-IPMN in the pancreas uncinate process has its own characteristics of localized pancreatitis, and MD-preserving DPPHR-P not only protects the exocrine and endocrine functions of the pancreas, but it also protects the physiological and anatomical integrity. The appearance of POPF after DPPHR-P may be managed by endoscopic pancreatic duct stenting.


Assuntos
Adenocarcinoma Mucinoso , Carcinoma Ductal Pancreático , Neoplasias Intraductais Pancreáticas , Neoplasias Pancreáticas , Pancreatite , Masculino , Humanos , Idoso , Carcinoma Ductal Pancreático/patologia , Doença Aguda , Adenocarcinoma Mucinoso/diagnóstico , Adenocarcinoma Mucinoso/cirurgia , Adenocarcinoma Mucinoso/patologia , Pancreatite/etiologia , Pancreatite/cirurgia , Pancreatite/patologia , Neoplasias Pancreáticas/patologia , Ductos Pancreáticos/diagnóstico por imagem , Ductos Pancreáticos/cirurgia , Ductos Pancreáticos/patologia , Pâncreas/diagnóstico por imagem , Pâncreas/cirurgia , Pâncreas/patologia
20.
Am Surg ; 89(9): 3822-3825, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37222408

RESUMO

Intussusception is a rare presentation in adults and describes when one portion of the intestine telescopes into another portion. Intussusception is associated with malignancies serving as the lead point in adults. Appendiceal mucinous neoplasms are uncommon tumors often incidentally discovered during appendectomy procedures to manage acute appendicitis. Here we present a case report of an instance of mucinous adenocarcinoma of the appendix that manifested as a large bowel obstruction with intussusception limited to the colon, underscoring the possibility of concurrent intussusception and mucinous neoplasms. The case highlights the importance of meticulous diagnostic evaluation and management, particularly without well-defined treatment protocols. Appropriate diagnostic workup and management, including surgical intervention, are critical for patient outcomes and overall prognosis. The study recommends that patients diagnosed with confirmed or suspected appendiceal neoplasms undergo upfront oncologic resection where aggressive malignancy is a concern. Colonoscopy should be performed postoperatively for all patients to identify synchronous lesions.


Assuntos
Adenocarcinoma Mucinoso , Neoplasias do Apêndice , Apêndice , Doenças do Ceco , Intussuscepção , Adulto , Humanos , Neoplasias do Apêndice/complicações , Neoplasias do Apêndice/diagnóstico , Neoplasias do Apêndice/cirurgia , Intussuscepção/diagnóstico , Intussuscepção/etiologia , Intussuscepção/cirurgia , Apêndice/patologia , Doenças do Ceco/cirurgia , Apendicectomia/efeitos adversos , Adenocarcinoma Mucinoso/complicações , Adenocarcinoma Mucinoso/diagnóstico , Adenocarcinoma Mucinoso/cirurgia , Colo/patologia
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