Mucinous cystadenocarcinoma of the breast harbours TRPS1 expressions and PIK3CA alterations.

AIMS: Breast mucinous cystadenocarcinoma (BMCA) is a rare tumour recently recognised as a distinct entity by the World Health Organisation Tumour Classification Series. BMCA is a triple-negative tumour that lacks specific immunohistochemical markers; therefore, distinguishing it from mimickers such as ovarian and pancreatic cystadenocarcinomas requires careful clinicopathological correlation. Due to its rarity, little is known about the molecular alterations that underlie BMCA. METHODS AND RESULTS: In this study, we used immunohistochemical staining methods to investigate TRPS1 (trichorhinophalangeal syndrome type 1) expression in BMCA and compare it to expression in ovarian and pancreatic mucinous cystadenocarcinomas. We also collected tumour samples from three BMCA patients for molecular analysis by MALDI-TOF mass spectrometry, real-time polymerase chain reaction, whole exome sequencing and fluorescence in-situ hybridisation. TRPS1 immunoreactivity was found only in BMCA tumour cells and not in the ovarian and pancreatic counterparts. One of the three BMCA tumours also showed a PIK3CA hot-spot mutation, which was confirmed by whole genome next-generation sequencing (NGS). No KRAS, NRAS, BRAF or AKT mutations were found. CONCLUSIONS: To our knowledge, this is the first demonstration of TRPS1 expression in BMCA patients and the first identification of a PIK3CA hotspot mutation in these tumours. These findings provide insights into the molecular mechanisms underlying BMCA tumorigenesis and suggest a potential drug target for this rare and poorly understood cancer.

Mucinous Cystadenocarcinoma of the Breast with Bone Metastases: First Case Report and Literature Review.

INTRODUCTION: Mucinous cystadenocarcinoma (MCA) of the breast is an extremely rare type of breast carcinoma. Since its biological characteristics, treatment options, and clinical outcomes are unclear, there is a lack of consensus regarding the optimal management of this disease. Thus, our single case report will aid our understanding of its natural history, prognostic factors, and treatment strategies. CASE PRESENTATION: We presented a 54-year-old woman with a case of advanced MCA of the breast accompanied by a huge breast mass, lymph node involvement, and distant bone metastases. We diagnosed primary breast MCA through clinical examination, imaging, and immunohistochemical assessments. Subsequently, the patient was treated with a regimen of nab-paclitaxel and bevacizumab, resulting in a significant clinical response. Progression-free survival was maintained during the 6-month follow-up period. CONCLUSION: We present the first report worldwide of a rare case of MCA of the breast with a large local mass and bone metastases. Our report adds to the limited literature on this rare breast cancer subtype and highlights the importance of accurate diagnosis and appropriate management of aggressive breast tumors.

Mucinous cystadenocarcinoma of the ovary in a 14-year-old girl: a case report and literature review.

BACKGROUND: Ovarian epithelial tumors are common in adults, and their peak incidence of onset is over 40 years of age. In children, most ovarian tumors are germ cell-derived, whereas epithelial tumors are rare and mostly benign. CASE PRESENTATION: This report describes a case of a 14-year-old Chinese girl with ovarian mucinous cystadenocarcinoma. She was admitted with a small amount of bloody vaginal discharge during the past month. Magnetic resonance imaging of the abdomen and pelvis showed a large solid cystic mass lesion in the left ovary. Tumor marker levels were within normal limits ( CA-125: 22.3 U/mL, HE4: 28.5 pmol/L, HCG: < 1.20 mIU/ml, AFP: 3.3 ng/ml, CEA: 2.2 ng/ml, CA19-9: < 2.0 U/mL). Laparoscopic exploration revealed a large left ovarian tumor. The patient underwent left salpingo-oophorectomy, and showed no significant issues during follow-up, as well as no evidence of recurrence or metastasis. CONCLUSIONS: We report the first pediatric case of ovarian mucinous cystadenocarcinoma in China. Given the scarcity of reports addressing the clinical management of this condition, the present study provides a useful contribution to its further understanding in light of developing future treatment strategies.

A Ruptured Mucinous Cystadenocarcinoma of the Pancreas Extensively Evaluated Before and After the Rupture: A Case Report.

ABSTRACT: Pancreatic mucinous cystic neoplasm (MCN) rarely ruptures because of their surrounding fibrotic capsules and has never been reported with detailed information regarding prerupture and postrupture states. We report a case of MCN rupture where performed emergency surgery was performed while waiting for elective surgery. A 54-year-old woman was referred to our department for a pancreatic cystic tumor with slight abdominal pain. A cystic tumor with a nodular lesion was found, with a contrast effect measuring 78 mm in diameter. On day 21, the patient visited our hospital complaining of increased abdominal pain, but few signs of peritonitis were observed. Tests conducted revealed moderate ascites, marginal shrinkage of the cyst diameter, and a slight elevation of inflammatory markers. We suspected an MCN rupture and immediately performed distal pancreatectomy. Brown turbid ascites and rupture of the anterior wall of the cyst were observed. In the ascites, amylase levels were not elevated, and bacterial cultures were negative. The histopathological diagnosis was noninvasive mucinous cystadenocarcinoma. At 9 months after surgery, she started chemotherapy because of a recurrence of the peritoneal dissemination. This case provided valuable insight into the rupture of MCNs using thorough imaging techniques, laboratory, and physical findings before and after rupturing.

Primary Retroperitoneal Mucinous Cystadenocarcinoma during Long-term Administration of Infliximab for the Treatment of Crohn's Disease.

We herein report a rare case of primary retroperitoneal mucinous cystadenocarcinoma (PRMC) in a 60-year-old man. The patient, who had been treated with infliximab for Crohn's disease of the colon for 13 years, was referred to our hospital for lower back pain. Contrast-enhanced computed tomography (CT) and magnetic resonance imaging revealed multiple cystic lesions in the right retroperitoneum, the calcification of the cyst, and bone lesions. Bone and CT-assisted biopsies of the retroperitoneal lesions revealed poorly differentiated adenocarcinoma. The patient was diagnosed with PRMC with bone metastases using immunohistochemical staining and positron emission tomography/CT.

[A Case of Radical Resection of Mucinous Cystadenocarcinoma of the Appendix by Laparoscopic Partial Cecal Resection].

A 70-year-old man was admitted to our hospital with a chief complaint of right lower abdominal pain during defecation. The contrast-enhanced CT scan showed a highly expanded appendix, so we suspected an appendiceal mucinous neoplasm, but the diagnosis did not clearly suggest cancer. So, we decided to perform laparoscopic surgery. Based on the intraoperative findings, it was considered that radical resection may be possible by partial cecal resection, and the patient underwent the procedure. Mucinous adenocarcinoma(MACA)was revealed by the postoperative pathological diagnosis. However, because the histological type was G1(well-differentiated)and no metastasis to regional lymph nodes(No. 201)was observed, we decided not to perform an additional ileocecal resection with LN dissection. The patient had a good postoperative course and was discharged from the hospital on postoperative day 4. The patient is still alive, 9 months postoperatively, with no recurrence.

Mammary mucinous cystadenocarcinoma with long-term follow-up: molecular information and literature review.

BACKGROUND: Mucinous cystadenocarcinoma (MCA) is a very rare form of breast cancer that was first described in 1998. Only 33 cases of primary MCA, including our present case, have been reported thus far. As a consequence, its molecular features, prognosis and treatment regimen are poorly known. Here, we describe a less common presentation of MCA, detail its molecular features, discuss the major differential diagnosis, and provide a brief review of the literature. CASE PRESENTATION: A 59-year-old woman presented with a breast lump in which mammography showed a well-defined nodule. Core needle biopsy (CNB) revealed several lesions lined by tall columnar cells with stratification and abundant mucinous secretion; excision was recommended for final diagnosis. The resected specimens showed cavities of different sizes without surrounding myoepithelial cells. The cavities were rich in mucus, and the nuclei were located at the base of the cells, containing intracellular mucus. Immunohistochemical analysis revealed that it was triple-negative breast cancer (TNBC). Next-generation sequencing (NGS) revealed pathogenic mutations in the PIK3CA, KRAS, MAP2K4, RB1, KDR, PKHD1, TERT, and TP53 genes. A diagnosis of MCA was rendered. The patient has been followed up for 108 months to date and showed no signs of recurrence or metastasis. CONCLUSION: Our study presents the gene profile of an MCA case with no recurrence or metastatic tendency after 108 months of follow-up, and a review of the literature helps us better understand the clinical, pathologic, and molecular features of this tumor.

Pregnancy-associated mucinous cystic neoplasms of the pancreas - A systematic review.

INTRODUCTION: Mucinous cystic neoplasms (MCN) are mucin-producing epithelial cell tumors of pancreas. They consist of an ovarian-type stroma expressing estrogen and progesterone receptors. Pregnancy-associated MCNs are presumed to be larger in size and more aggressive without any concrete evidence. OBJECTIVE: and Data Sources: Systematic review of published literature using PubMed and Google Scholar databases. Original articles including case reports and series published between 1970&2021 were included wherein MCN was diagnosed during pregnancy/within one-year post-partum. Thirty-three publications having 36 cases, adding one of our own patient were analyzed in this review. RESULT: Median age at presentation was 32 years. Only three (9%) patients were asymptomatic. Mean size of MCN was 135 mm. Ten patients (27%) reported an increase in size during pregnancy. Most tumors involved body and tail of pancreas (60%). Distal pancreatectomy with splenectomy was the most common resection performed (57%). No foetal mortality was reported to date. CONCLUSION: Pregnancy may cause a rapid increase in size of MCN. Decision-making is more complex and needs a fine balance between optimal oncological and obstetric outcomes.

[A Case Report of Psoas Abscess Formation Caused by Mucinous Cystadenocarcinoma].

We report a rare case of psoas abscess formation caused by mucinous cystadenocarcinoma. A 65-year-old women was admitted to our hospital for treatment for iliopsoas abscess. She presented with standing difficulty and her laboratory data showed an increased level of leukocytes. CT scan demonstrated an abscess formation in iliopsoas muscle. Colonoscopy showed an ulcer on her cecum. Although percutaneous drainage was performed on the first day, the abscess relapsed repeatedly. Ileocolectomy was performed on post admission day 29. Abscess drainage continued after the operation, the patient was discharged on postoperative day 34. Pathological examination revealed mucinous cystadenocarcinoma on the cecal tumor. Total 8 cycles of FOLFOX6 was performed as adjuvant chemotherapy. The patient has been survived for 20 months with no recurrence.

A case of pancreatic mucinous cystadenocarcinoma with malignant ascites without recurrence for more than 8 years after surgery.

Mucinous cystadenocarcinoma (MCAC) with malignant ascites is rare. We report a case of a 28-year-old woman who presented with epigastric pain. The ascites in the Douglas fossa was identified at a nearby gynecology clinic. Computed tomography showed a multiloculated cystic lesion (9.5 × 6.4 cm) in the tail of the pancreas, which was diagnosed as mucinous cystic neoplasm on imaging. Staging laparoscopy was performed, and rapid cytology of ascites revealed adenocarcinoma, leading to a diagnosis of unresectable MCAC. Subsequently, combination chemotherapy with gemcitabine plus S-1 was initiated. Although there were no remarkable changes in the imaging findings, the peritoneal dissemination node was not consistently recognized in any of the imaging findings, and distal pancreatectomy was performed. A peritoneal dissemination node was not observed in the laparotomy findings, but the peritoneal lavage cytology was positive. The postoperative pathological result was non-invasive MCAC, and the ascites was suspected to be caused by cyst rupture. The patient has been recurrence-free, including the reappearance of ascites, for > 8 years after adjuvant therapy with S-1. Although careful follow-up will be required in the future, the very good prognosis in this case suggests that MCAC with malignant ascites without obvious peritoneal dissemination should be considered for surgical resection.

Mucinous cystadenocarcinoma of the breast: a new entity with broad differentials-a case report.

BACKGROUND: Mucinous cystadenocarcinoma is a rare and recently described primary breast cancer with strikingly similar histomorphology to ovarian, pancreatic, and gastrointestinal counterparts. The diagnosis cannot be made until the metastatic lesion is ruled out. CASE PRESENTATION: We are reporting the case of a 65-year-old woman with primary mucinous cystadenocarcinoma of the breast while exploring clinicopathological features and approach to diagnosis. Though the immunohistochemistry panel of CK7, CK20, CDX2, SATB2, PAX8, mammoglobin, and GATA3 plays a crucial role in ruling out metastasis but aberrant CK20 positivity was seen in our case, the final diagnosis was made after a complete radiological workup. We also noted strong membranous HER2-protein expression and HER2-gene amplification by fluorescence in situ hybridization while in literature this tumor is reported to show mainly triple-negative basal type immunophenotype. CONCLUSION: A combined clinic-radio-immunohistochemical approach is essential to make a diagnosis of primary mucinous cystadenocarcinoma.

[A Case of Giant Pancreatic Mucinous Cystic Neoplasm That Was Difficult to Preoperative Diagnosis].

A 43-year-old woman with about abdominal distension was referred to our hospital for a more detailed examination. Abdominal CT showed 27 cm-sized cystic lesion with the calcification along the partition wall and a nodular hyperplasia. We suspected pancreatic pseudocyst, primary retroperitoneal tumor and we performed tumorectomy. The resected specimen had a maximum diameter of 27 cm. The histopathological diagnosis was mucinous cystadenocarcinoma of the pancreas with ovarian-type stroma. The adjuvant chemotherapy treated with gemcitabine was selected for 3 courses. She continues to do well without any recurrences 7 months later.

Computed Tomography and Clinical Analysis of Ovarian Mucinous Tumors in Adolescent Patients.

STUDY OBJECTIVE: To investigate the clinical and computed tomography features of ovarian mucinous tumors in children and adolescents. DESIGN, SETTING, AND PARTICIPANTS: A retrospective analysis of clinical and preoperative computed tomography (CT) data was performed in 59 patients who were 20 years or younger with ovarian mucinous tumors confirmed by histopathology. Patients' age, medical history, symptoms, tumor marker levels, and CT imaging findings were recorded. INTERVENTIONS: None. MAIN OUTCOME MEASURES: Identification of the clinical and CT features of ovarian mucinous tumors in pediatric and adolescent patients. RESULTS: There were 41 mucinous cystadenomas in 39 cases, 12 borderline mucinous cystadenomas in 11 cases, and 9 mucinous cystadenocarcinomas in 9 patients. A total of 55 tumors were multilocular (55/62, 88.7%), including fewer than 10 loculations in 23 tumors, 10-20 loculations in 17 tumors, and over 20 loculations in 15 tumors. Eleven borderline mucinous cystadenomas were multilocular (11/12, 91.7%), with over 10 loculations in 7 tumors (7/12, 58.3%). Twelve tumors appeared as multilocular cystic-solid (12/62, 19.4%), and a case of mucinous cystadenocarcinoma was predominantly solid (1/62, 1.6%). Seventeen tumors showed honeycomb sign and stained glass appearance. Six mural nodules, with sizes ranging from 1.1 to 3.5 cm (average: 2.8 cm), were found in borderline mucinous cystadenoma and mucinous cystadenocarcinoma. CONCLUSIONS: The CT findings of ovarian mucinous tumors in children are characteristic. The preoperative CT is helpful in making differential diagnoses.

Aurora-A kinase is differentially expressed in the nucleus and cytoplasm in normal Müllerian epithelium and benign, borderline and malignant serous ovarian neoplasms.

BACKGROUND: Aurora-A kinase is important for cellular proliferation and is implicated in the tumorigenesis of several malignancies, including of the ovary. Information regarding the expression patterns of Aurora-A in normal Müllerian epithelium as well as benign, borderline and malignant epithelial ovarian neoplasms is limited. METHODS: We investigated Aurora-A expression by immunohistochemistry in 15 benign, 19 borderline and 17 malignant ovarian serous tumors, and 16 benign, 8 borderline, and 2 malignant ovarian mucinous tumors. Twelve fimbriae from seven patients served as normal Müllerian epithelium controls. We also examined Aurora-A protein expression by western blot in normal fimbriae and tumor specimens. RESULTS: All normal fimbriae (n = 12) showed nuclear but not cytoplasmic Aurora-A immunoreactivity by immunohistochemistry. Benign ovarian tumors also showed strong nuclear Aurora-A immunoreactivity. Forty-eight percent (13/27) of borderline tumors demonstrated nuclear Aurora-A immunoreactivity, while the remainder (52%, 14/27) lacked Aurora-A staining. Nuclear Aurora-A immunoreactivity was absent in all malignant serous tumors, however, 47% (8/17) demonstrated perinuclear cytoplasmic staining. These results were statistically significant when tumor class (benign/borderline/malignant) was compared to immunoreactivity localization or intensity (Fisher Exact Test, p < 0.01). Western blot analysis confirmed the greater nuclear Aurora-A expression in control Müllerian epithelium compared to borderline and malignant tumors. CONCLUSION: Aurora-A kinase is differentially expressed across normal Müllerian epithelium, benign and borderline serous and mucinous ovarian epithelial neoplasms and malignant serous ovarian tumors., with nuclear expression of unphosphorylated Aurora-A being present in normal and benign neoplastic epithelium, and lost in malignant serous neoplasms. Further studies of the possible biological and clinical implications of the loss of nuclear Aurora-A expression in ovarian tumors, and its role in ovarian carcinogenesis are warranted.