Postmenopausal woman with 24 kilograms ovarian mucinous cystadenoma: a rare case report.

A case of a 53-year-old postmenopausal woman presenting a giant ovarian cystic mucinous tumor weighing 24 kg is reported here. When she was seen first at our outpatient clinic, she had gross abdominal distension since 2 years, and she complained of unbearable aggressive pain. Her computed tomography (CT) scan was done which came suggestive of ovarian serous cystadenoma of large massive size 35 x 40 x 32 cm with moderate ascites. On exploratory laparotomy, a giant, totally cystic, vascularized and smooth mass attached to the right ovary was encountered. On the postoperative tenth day, she was discharged without any problem. Histopathology report of the right ovarian cystic mass came suggestive of multiloculated cyst with capsule intact with Borderline Mucinous tumor of right ovary weighing 24 kg. This is both one of the largest known examples in the literature and the largest ovarian cyst ever seen at our institution.

Ovarian mucinous and seromucinous neoplasms: problematic aspects and modern diagnostic approach.

The morphological spectrum of primary ovarian mucinous and seromucinous tumours is broad, and presents an array of diagnostic challenges, many unique to these tumour types. This reflects the heterogeneous nature of these lesions, their varied histogenesis and evolving classification systems over recent decades, with further modification to the seromucinous category incorporated in the recently published 5th edition of the World Health Organisation (WHO) Classification of female genital tumours. In this review we provide an update on the classification of these neoplasms and discuss their histogenesis and diverse morphology, focusing on areas which are diagnostically problematic. We also cover tumour grading, differential diagnosis, immunohistochemistry, the recent elucidation of the molecular underpinnings of ovarian mucinous neoplasia and discuss the gross and intra-operative handling of these tumours. A number of diagnostic issues remain unresolved, highlighting the importance of further research on this front, as well as a multidisciplinary approach in the care of patients with ovarian mucinous and seromucinous neoplasia.

Decreased Gastric Gland Mucin-specific O-glycans Are Involved in the Progression of Ovarian Primary Mucinous Tumours.

Ovarian primary mucinous tumours (OPMTs) show an adenoma-borderline-carcinoma sequence with gastrointestinal metaplasia. Gastric gland mucin-specific O-glycans are unique with an α1,4-linked N-acetylglucosamine (αGlcNAc) residue attached to mucin 6 (MUC6). Although αGlcNAc is expected to be expressed in OPMTs, the relationship between αGlcNAc expression and OPMT progression remains unknown. Here, we analysed 104 areas of benign mucinous tumours (benign), 55 areas of borderline mucinous tumours (borderline), and 18 areas of malignant mucinous tumours (malignant) to investigate the expression patterns of αGlcNAc, mucin 2 (MUC2), mucin 5AC (MUC5AC), and MUC6 during the progression of OPMT from benign to malignant. MUC5AC expression was observed in all areas. The frequencies of MUC6- and αGlcNAc-positive areas were decreased with tumour progression. In particular, the decrease in αGlcNAc-positive areas was remarkable. Furthermore, αGlcNAc expression was lower than MUC6 expression at all grades (benign, p < 0.0001; borderline, p = 0.0014; malignant, p = 0.0039). Conversely, there was no difference in the expression frequency or level of MUC2 among the three grades. These results suggest that decreased expression of αGlcNAc relative to MUC6 occurs early in tumour development and marks the initiation of OPMT progression.

Tumor de Brenner benigno asociado a tumor mucinoso borderline de ovario en paciente postmenopáusica / Benign Brenner tumour associated with a borderline mucinous tumour of the ovary in a post-menopausal patient

El tumor de Brenner es una neoplasia ovárica infrecuente de origen incierto, generalmente asintomática. Su diagnóstico es complejo, sin presentar patrones ecográficos específicos. Se ha asociado a tumores mucinosos con distinto potencial de malignidad, pudiendo encontrar componentes malignos o borderline que determinarán el tratamiento. Para su diagnóstico diferencial es esencial la realización de un estudio inmunohistoquímico, para objetivar el origen clonal del tumor de Brenner y de la estirpe mucinosa. Presentamos el caso de una mujer diagnosticada intraoperatoriamente de un tumor de Brenner asociado a un tumor mucinoso borderline de ovario, en el estudio definitivo posterior.(AU)

Brenner tumour is an uncommon neoplasm of the ovary of uncertain origin and often asymptomatic. Diagnostic is complex, without specific ultrasound patterns. It has been associated with mucinous tumours with different potential for malignancy, and it is possible to find malignant or borderline components that determine the treatment. For its differential diagnosis immunohistochemical study is essential, which shows, according to various studies, a clonal origin of Brenner and mucinous tumour. This is a case report of a Brenner tumour associated with a mucinous tumour, which in a definitive study showed to be associated with a borderline ovarian tumour component.(AU)

Laparoscopic Resection and Pre-Operative Imaging of Primary Retroperitoneal Mucinous Neoplasms: A Retrospective Case Series.

PURPOSE: The purpose of this paper is to present the clinicopathological features of primary retroperitoneal mucinous neoplasms (PRMNs), to evaluate the diagnostic role of pre-operative radiological examinations, and to determine the feasibility of total resection using the laparoscopic approach. METHODS: We retrospectively analysed the clinicopathological and radiological features of 10 PRMN cases who underwent surgical resection from January 2000 to December 2019. RESULTS: Ten PRMN cases were evaluated in this study, including 1 malignant case, 4 borderline cases, and 5 benign cases. The most common primary complaints were pain (60%) and palpable mass (60%). Of the 8 cases with pre-operative CT results, 75% of the borderline or malignant cysts and none of the benign cysts were large in size (size>11.6 cm). Half of the non-benign masses and none of the benign ones were lobulated. Thick wall (≥3 mm) and irregular wall were found in 25% and 50% of the non-benign cases, respectively. Wall enhancement was detected in 75% of the non-benign cases and 25% of the benign cases. Enhanced mural nodules were identified in 50% of the non-benign patients. Septa were found in 25% of the non-benign cases. Complete dissection of the tumour without rupture or post-operative complications was achieved laparoscopically in 90% of the cases. All patients were alive with no recurrence at the last follow-up at an average of 28.1±26.6 months. CONCLUSION: Larger size and lobulation of the cyst, presence and contrast enhancement of thick and irregular cyst walls, mural nodules, and internal septa may be imaging features suggestive of malignancy. Complete resection of PRMN through the laparoscopic approach is feasible in experienced institutions.

Latest advances in pancreatic tumours. / Últimos avances sobre los tumores pancreáticos.

Pancreatic cancer continues to have a bleak prognosis. Hardly any therapeutic advances have been made in the last few years and consequently most efforts have focused on preventing its development and on diagnosing precursor lesions. In this regard, the use of statins as a preventive factor and the implementation of screening programmes in high-risk patients are gaining ground. In the field of treatment, there is greater focus on the role of neoadjuvant therapy in pancreatic cancer and on a multimodal approach to the disease, with few advances in effective novel therapies. Most studies concerned cystic tumours of the pancreas, especially intraductal mucinous papillary tumour, with its known potential for malignant transformation. Multiple studies were devoted to validation of the 2012 Fukuoka international guidelines and the highly controversial 2015 AGA guidelines. Notable among these studies were those demonstrating the suboptimal positive predictive value and questioning important aspects of the guidelines, such as discontinuation of follow-up or the criteria for surgical referral. Notable among diagnostic procedures were cystoscopy and endoscopic ultrasound-guided needle-based confocal laser endomicroscopy as the most promising techniques due to their high efficacy and negative predictive value in detecting mucinous cystic lesions. There were also a large number of studies on the natural history of intraductal papillary mucinous tumours, which help deepen knowledge of these entities and the search for predictive factors of cancer development.

Whole-exome sequencing identified the genetic origin of a mucinous neoplasm in a mature cystic teratoma.

Mucinous tumour arising from a mature cystic teratoma associated with pseudomyxoma peritonei (PMP) is a rare disease and its tissue origin is not easy to specify by conventional histological and immunohistochemical analyses. To identify the origin of a secondary tumour arising from a mature teratoma, we performed whole-exome sequencing of a PMP secondary to a primary ovarian mucinous tumour. The mucinous tumour was CK20 (+), CK7 (-) and CDX2 (+). Its genome harboured 28 somatic non-silent mutations (27 missense and 1 nonsense) that included eight putative driver gene mutations catalogued in COSMIC database (KRAS, GNAS, ZBTB38, ENAM, HTR5A, BAI1, ADAMTS8 and RASA3). KRAS mutation as well as mutations in genes that antagonise RAS signalling (RASA3 and ADAMTS8) suggest that alterations in RAS signalling may play a role in its development. More importantly, the concurrent KRAS and GNAS hotspot mutations, and CK20 (+), CK7 (-) and CDX2 (+) expression strongly indicated its appendiceal origin. Our results indicate that next-generation sequencing combined with histological and immunohistochemical analyses may be a better strategy than the conventional analyses alone to identify the origin of a secondary tumour arising from a mature teratoma. Also, the data suggest that a PMP secondary to a primary ovarian mucinous tumour genome arising in the teratoma may recapitulate the mutational features of appendiceal mucinous tumours.

Mucinous epithelial tumours arising from ovarian mature teratomas: a tissue genotyping study.

AIMS: The association of ovarian mucinous tumours with teratomas is well documented at tissue level, suggesting that some ovarian mucinous tumours arise from teratomas. Teratomas, being of germ cell origin, are genetically distinct from somatic cells, therefore providing a molecular basis for DNA genotyping to separate teratoma-derived mucinous tumours from metastatic ones. We assessed the diagnostic utility of DNA genotyping in ovarian mucinous tumours. METHODS AND RESULTS: Nine cases of ovarian mucinous borderline tumours and three mucinous carcinomas associated with teratomas were included, along with three mucinous tumours without associated teratoma for genotyping control. Target tissues (teratoma, mucinous tumour and paired normal tissue) were dissected microscopically, followed by genotyping at 15 short tandem repeat polymorphic loci. Of the 12 mucinous tumours with associated teratoma, tissue genotyping was informative in six cases, including four borderline tumours and two mucinous carcinomas. Homozygosity or partial homozygosity was observed in the teratomatous component in all six cases. Genotypical concordance between the teratoma and mucinous tumour was seen in five cases, including three borderline tumours and two mucinous carcinomas, suggesting clonal evolution. One mucinous borderline tumour showed an unmatched genotype with that of the corresponding teratoma, consistent with disparate tumour origins. All three mucinous tumours without teratoma displayed heterozygosity. CONCLUSIONS: When associated with a teratoma, ovarian mucinous tumours may arise frequently from the coexisting teratoma. In difficult cases, DNA genotyping may be used as a diagnostic tool in separating teratoma-derived primary ovarian mucinous tumours from those of somatic origin, particularly metastatic tumours from other sites.

Clonality analysis of combined Brenner and mucinous tumours of the ovary reveals their monoclonal origin.

The derivation of ovarian intestinal-type mucinous tumours is not well established. Some are derived from teratomas but the origin of the majority is not clear. It has been recently proposed that the non-germ cell group may be derived from Brenner tumours, as the association of a mucinous tumour with a Brenner tumour is frequently observed. In order to explore the histogenesis of these neoplasms, we undertook a clonality analysis of the two components of ten combined Brenner and mucinous tumours using a human androgen receptor gene (HUMARA) assay. All eight informative cases of ten showed a concordant X-chromosome inactivation pattern between the two tumour components, indicative of a shared clonal origin (p = 0.0039). Microsatellite genotyping in five of the combined tumours displayed an identical heterozygous pattern with paired Fallopian tube tissue, indicative of a somatic cell origin. In addition, paired box protein 8, a highly sensitive Müllerian epithelial marker, was not detected by immunohistochemistry in either tumour component in any of the ten tumours, suggesting that this subset of mucinous tumours does not originate from Müllerian-derived epithelium. In conclusion, this study demonstrates that in combined mucinous and Brenner tumours, there is a shared clonal relationship between the two different tumour components and suggests that some pure mucinous tumours may develop from a Brenner tumour in which the Brenner tumour component becomes compressed and obliterated by an expanding mucinous neoplasm.

Mucocoele and mucinous tumours of the appendix: A review of the literature.

INTRODUCTION: Mucocoele of the appendix is rarely encountered but consultant general surgical and trainees must be aware of it as a differential diagnosis, due to the nuances associated with its management. We aimed to provide a comprehensive review of the current literature concerning this rare surgical pathology. METHODS: Search terms "appendi*", "tumour", "malignancy", "mucino*" and "cystadenoma" were used in combination to identify papers from PubMed. Abstracts and full text were manually reviewed to identify suitable papers. RESULTS: Full search results included 311 articles. Review of titles and abstracts led to further full text review of 46 articles. Of these 30 were selected for inclusion based on relevance, adequate sample size and recent publication date. DISCUSSION: Mucocoele of the appendix describes dilatation with associated luminal mucin and can result from benign and malignant processes. It contributes 0.2-0.7% of all appendiceal pathologies. The most common presenting symptoms are abdominal pain and a palpable mass in the right iliac fossa. Computed tomography of the abdomen and pelvis is key in facilitating diagnosis, although CEA and CA19-9 also have a role. The major complication of malignant causes of mucocoele is progression to pseudomyxoma peritonei. Treatment is surgical with or without chemotherapy depending on the underlying cause. Prognosis depends on aetiology. CONCLUSION: Mucocoele of the appendix is a rare diagnosis. However, given the possibility of neoplastic peritoneal dissemination, it should be considered as a diagnosis, especially in older females with non-specific symptoms similar to appendicitis.

An unusual ischiorectal fossa mass.

INTRODUCTION: Peri-anal fistulae commonly present with collections requiring surgical intervention. The most common cause of a peri-anal mass is abscess formation secondary to anal gland sepsis. In certain patient groups such as those over 65 or with atypical presenting symptoms there are other important considerations. PRESENTATION OF CASE: A 70-year old male was referred by his general practitioner with symptoms of obstructed defaecation and a palpable mass in the ischiorectal fossa. He had previously undergone three operations for complex peri-anal fistulae in another hospital. Due to the previous history of surgery, seroma formation was considered and computed tomography guided drainage of the lesion was performed unsuccessfully. Given symptoms of obstructed defecation and need for histological diagnosis excision was undertaken. The approach was through a right pararectal incision over the bulk of the mass. Skin and pararectal tissue were divided revealing a mucinous lesion with multiple lobules adherent to pararectal tissue. Following histopathological examination a diagnosis of low grade mucinous neoplasm was made. DISCUSSION: Primary mucinous neoplasm in the ischiorectal fossa is very rare. Diagnostic criteria for adenocarcinoma arising from perianal fistulae have previously been established by Rosser et al. but this lesion does not fall into this category. It is categorised as a mucinous cystic neoplasm of uncertain malignant potential. The differential diagnoses are discussed. CONCLUSION: Consideration should be given to a range of pathologies in cases of atypical peri-anal masses.

Pseudomyxoma peritonei.

Pseudomyxoma peritonei (PMP) is an uncommon "borderline malignancy" generally arising from a perforated appendiceal epithelial tumour. Optimal treatment involves a combination of cytoreductive surgery (CRS) with heated intraperitoneal chemotherapy (HIPEC). Controversy persists regarding the pathological classification and its prognostic value. Computed tomography scanning is the optimal preoperative staging technique. Tumour marker elevations correlate with worse prognosis and increased recurrence rates. Following CRS with HIPEC, 5-year survival ranges from 62.5% to 100% for low grade, and 0%-65% for high grade disease. Treatment related morbidity and mortality ranges from 12 to 67.6%, and 0 to 9%, respectively. Surgery and HIPEC are the optimal treatment for PMP which is at best a "borderline" peritoneal malignancy.