Primary retroperitoneal tumor: mucinous cystoadenocarcinoma.

Primary retroperitoneal mucinous cystadenocarcinomas (PRMCs) are extremely rare tumors with limited understanding of their pathogenesis and biological behavior. We describe a case of a 50-year-old female patient who underwent surgical treatment. The patient had a history of previous surgeries for mesenteric mucinous cystadenoma, without evidence of recurrence. During routine abdominal ultrasound a new tumor was found. An abdomen magnetic resonance imaging was done and confirmed the presence of a cystic lesion in the right iliac fossa. After discussion in multidisciplinary committee, surgical complete resection of the tumor, along with bilateral adnexectomy, was performed successfully. Histopathological examination revealed a mucinous adenocarcinoma adjacent to a mucinous cystadenoma. Immunohistochemical analysis supported the diagnosis of a primary retroperitoneal lesion. The patient had an uneventful recovery and has remained disease-free during the two-year postoperative follow-up. PRMCs are challenging to diagnose preoperatively due to nonspecific symptoms. Surgical excision is the mainstay of treatment. The long-term prognosis and optimal therapeutic strategies require further investigation.

Los cistoadenocarcinomas mucinosos primarios retroperitoneales (CMPR) son tumores extremadamente raros con una comprensión limitada de su patogénesis y comportamiento biológico. Describimos el caso de una mujer de 50 años sometida a tratamiento quirúrgico. La paciente tenía antecedentes de cirugías previas por cistodenoma mucinoso mesentérico, sin evidencia de recurrencia. Durante una ecografía abdominal de rutina se encontró un nuevo tumor. Se realizó una resonancia magnética abdomen que confirmó la presencia de una lesión quística en la fosa ilíaca derecha. Luego de discutir el caso en el comité multidisciplinario, se realizó con éxito la resección quirúrgica completa del tumor, junto con la anexectomía bilateral. El examen histopatológico reveló un adenocarcinoma mucinoso adyacente a un cistodenoma mucinoso. El análisis inmunohistoquímico apoyó el diagnóstico de lesión primaria retroperitoneal. La paciente tuvo una buena recuperación y permaneció libre de enfermedad durante dos años de seguimiento postoperatorio. Los CMPR son difíciles de diagnosticar debido a que presentan síntomas inespecíficos. La escisión quirúrgica es la base del tratamiento. El pronóstico a largo plazo y las estrategias terapéuticas óptimas requieren más investigación.

Adult granulosa cell tumour camouflaged as mucinous neoplasm.

This case report delves into the diagnostic intricacies and clinical management of adult granulosa cell tumour (AGCT) in a woman in her 50s, presenting with pain abdomen. Initial imaging investigations like ultrasound suggested diagnosis of benign cystadenoma. Further MRI revealed a large well-defined multiloculated lesion so a diagnosis of neoplastic aetiology/likely mucinous cystadenocarcinoma was offered. However, the definitive diagnosis was established through meticulous histopathological examination, revealing characteristic features of AGCT, a rare ovarian neoplasm. The case underscores the diagnostic challenges posed by AGCT, the importance of integrating clinical, radiological and histopathological data, and the necessity for a multidisciplinary approach for accurate diagnosis and optimal patient management.

HER2-positive mucinous cystadenocarcinoma of the breast coexisting with invasive lobular carcinoma: A case report and review of the literature.

Primary mucinous cystadenocarcinoma (MCA) of the breast is a rare variant of breast carcinoma. A 68-year-old female patient presented to the general surgery clinic with pain and swelling in the right breast. A mass was detected in the upper outer quadrant, and a fine-needle aspiration biopsy was performed. The May-Grünwald Giemsa stained slides showed aggregates of mucin-rich pleomorphic cells with large nuclei in a mucinous background containing discohesive single cells. The Papanicolaou stain revealed a papillary structure composed of malignant epithelial cells in a necrotic background. A modified radical mastectomy was performed, and upon gross examination, two tumors were discovered in the central and upper outer quadrants. The first tumor, located centrally, was identified as invasive lobular breast carcinoma. The second tumor was an MCA with cytokeratin 7(+) and cytokeratin 20(-), and was determined to be the primary MCA of the breast based on clinical and radiological information. Immunohistochemistry revealed that the tumor cells were negative for estrogen receptor and progesterone receptor, and HER2 was 2+. Fluorescence in situ hybridization analysis detected HER2 gene amplification. During the 72-month follow-up, there were no findings compatible with recurrence or new metastasis. Although primary MCA is rare, it causes differential diagnosis problems and has different biological behaviors.

Mature cystic teratoma with co-existent mucinous cystadenocarcinoma: describing a diagnostic challenge-a case report.

BACKGROUND: Mature cystic teratoma co-existing with a mucinous cystadenocarcinoma is a rare tumor that few cases have been reported until now. In these cases, either a benign teratoma is malignantly transformed into adenocarcinoma or a collision tumor is formed between a mature cystic teratoma and a mucinous tumor, which is either primarily originated from epithelial-stromal surface of the ovary, or secondary to a primary gastrointestinal tract tumor. The significance of individualizing the two tumors has a remarkable effect on further therapeutic management. CASE PRESENTATION: In this case, a mature cystic teratoma is co-existed with a mucinous cystadenocarcinoma in the same ovary in a 33-year-old Iranian female. Computed Tomography (CT) Scan with additional contrast of the left ovarian mass suggested a teratoma, whereas examination of resected ovarian mass reported an adenocarcinoma with a cystic teratoma. A dermoid cyst with another multi-septate cystic lesion including mucoid material was revealed in the gross examination of the surgical specimen. Histopathological examination revealed a mature cystic teratoma in association with a well-differentiated mucinous cystadenocarcinoma. The latter showed a CK7-/CK20 + immune profile. Due to the lack of clinical, radiological, and biochemical discoveries attributed to a primary lower gastrointestinal tract tumor, the immune profile proposed the chance of adenocarcinomatous transformation of a benign teratoma. CONCLUSIONS: This case shows the significance of large sampling, precise recording of the gross aspects, histopathological examination, immunohistochemical analysis, and the help of radiological and clinical results to correctly diagnose uncommon tumors.

Primary mucinous tumors of the renal pelvis: Clinical, histopathological, and molecular analysis of three cases.

Primary mucinous tumors of the renal pelvis are extremely rare and pose challenges in terms of diagnosis and treatment. This study reviewed the clinical and pathological characteristics of mucinous tumors of the renal pelvis, including mucinous cystadenocarcinomas and mucinous cystadenomas. Immunohistochemical analysis was conducted in three cases, along with KRAS gene detection using the Amplification Refractory Mutation System (ARMS) method. The results revealed mucinous epithelium with acellular mucinous pools in all cases, and acellular mucinous pools were observed in the renal parenchyma and perirenal fat capsules. All tumors expressed CK20 and CDX2, and one case showed KRAS gene mutation. The study suggests that mucinous cystadenomas of the renal pelvis may exhibit borderline biological behaviors. This study is the first to report a KRAS gene mutation in a mucinous cystadenoma of the renal pelvis, offering valuable insights into the diagnosis and treatment of this rare condition.

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.