Low-grade mucinous epithelial neoplasm (intestinal type) arising in a mature sacrococcygeal teratoma with late recurrence as pseudomyxoma peritonei

McKenney, Jesse K.; Longacre, Teri A.

doi:10.1016/j.humpath.2007.08.021

Cited by 6 publications

(2 citation statements)

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“…It has been suggested that yolk sac tumour may occur in sacrococcygeal teratoma as a form of tumour progression . This seems to be true for the wide variety of somatic tumours that may arise in sacrococcygeal GCTs, including recently reported paediatric cases with sarcoma, nephroblastic elements, peripheral primitive neuroectodermal tumour, malignant ependymoma component, neuroblastoma, and malignant steroidogenic tumour, and adult cases with neuroendocrine carcinoma, adenocarcinoma, and intestinal‐type mucinous neoplasm that recurred as disseminated intraperitoneal disease with pseudomyxoma peritonei …”

Section: Discussionmentioning

confidence: 99%

Evidence of a dual histogenetic pathway of sacrococcygeal teratomas

et al. 2016

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Aims Sacrococcygeal teratomas are rare tumours that occur most frequently in neonates, although adult cases also occur. The molecular pathogenesis of these tumours and their long‐term prognosis is uncertain. We investigated the i(12p) status of a large number of primary sacrococcygeal teratomas in both children and adults, including cases with malignant germ cell tumour elements. Methods and results Fifty‐four sacrococcygeal teratoma specimens from 52 patients were identified, and available follow‐up information was obtained. Fluorescence in‐situ hybridization analysis was performed to identify isochromosome 12p [i(12p)] abnormalities on paraffin blocks of the tumours. Among the 48 paediatric patients, there were 44 teratomas and four tumours with combined teratoma and yolk sac tumour (one of whom also had primitive neuroectodermal tumour). The teratomas included 37 mature teratomas and 11 immature teratomas (four grade 1, two grade 2, and five grade 3). The 44 teratomas lacking a yolk sac tumour component were all negative for i(12p). The four tumours with a yolk sac tumour component were all positive for i(12p). The four adult cases all lacked non‐teratomatous germ cell tumour components, immature elements, and i(12p). Follow‐up information was available for 32 patients. Two patients with teratoma had recurrence, but were alive with no evidence of disease after long‐term follow‐up. One patient with combined teratoma and yolk sac tumour had recurrence 7 months after resection. The other patients were alive with no evidence of disease at last follow‐up. Conclusions Our data suggest that paediatric sacrococcygeal teratomas should be considered as two distinct groups with divergent histogenetic pathways. The prognosis of these tumours is excellent, despite rare recurrence.

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Section: Discussionmentioning

confidence: 99%

Evidence of a dual histogenetic pathway of sacrococcygeal teratomas

et al. 2016

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“…Despite the apparent favorable prognosis, caution should be exercised in the interpretation of this data, because recurrence intervals in appendiceal low-grade mucinous neoplasms with PMP may be prolonged and delayed recurrence of classic PMP after resection of a pelvic sacrococcygeal teratoma-associated low-grade mucinous neoplasm (IM-LMP by ovarian criteria) has been reported. 1,9,10,13 In contrast to the tumors with IM-LMP histology, mucinous carcinomas arising in this setting have fully malignant biologic potential, as evidenced by metastases in 3 of 5 patients, and 1 documented death at 6 months after initial diagnosis. Pseudomyxoma ovarii was present in cystadenomas (35%), IM-LMP (75%), and invasive carcinomas (40%) in this series, and did not seem to be an independent risk factor for disease progression.…”

Section: Discussionmentioning

confidence: 99%

Ovarian Mature Teratomas With Mucinous Epithelial Neoplasms: Morphologic Heterogeneity and Association With Pseudomyxoma Peritonei

McKenney

Soslow

Longacre

2008

American Journal of Surgical Pathology

139

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Mucinous epithelial neoplasms arising in association with mature teratomas are a heterogeneous group of tumors, but with the exception of a single recent study, their full histologic spectrum, detailed immunophenotype, and association with classic pseudomyxoma peritonei (PMP) have not been fully studied. The morphologic, immunohistochemical, and clinical features of 42 patients with mucinous epithelial tumors arising in association with mature ovarian teratomas were evaluated. The patients' ages ranged from 17 to 66 years (mean, 39 y). Tumor size ranged from 5.5 to greater than 200 cm. Most teratoma-associated mucinous tumors were unilateral, although 1 patient harbored bilateral mucinous tumors in association with bilateral teratomas. In all cases, the teratomatous component consisted of mature elements. Using the 2003 World Health Organization criteria for ovarian intestinal type mucinous neoplasms, 17 (40%) were classified as mucinous cystadenoma, 16 (38%) as intestinal-type mucinous epithelial neoplasm of low malignant potential (IM-LMP), 4 (10%) as intraepithelial carcinoma (IEC), and 5 (12%) as invasive mucinous carcinoma. Mucinous cystadenomas had a varied epithelial lining consisting of lower gastroenteric, gastric foveolar, or müllerian appearance. In contrast, the IM-LMP, IEC, and invasive carcinoma cases had a more uniform lower gastroenteric histology. For mucinous cystadenomas, a cytokeratin (CK) 7+/CK20- phenotype (5/13; 38%) was equally as common as a CK7-/CK20+ phenotype (5/13; 38%), with the remaining cases coexpressing both keratins (CK7+/CK20+: 3/13; 23%). In contrast, IM-LMP, IEC, and invasive adenocarcinomas more frequently had a CK7-/CK20+ phenotype (56%, 50%, and 100%, respectively). A CK7+/CK20-phenotype was rare in these later 3 morphologic groups (6%). Of the 42 total cases, 55% had pseudomyxoma ovarii and 24% had classic PMP (1 cystadenoma, 6 IM-LMP, and 3 invasive carcinomas), whereas 5% had more localized accumulations of peritoneal mucin (both IM-LMP). Pathologic evaluation of the peritoneum in these 12 cases revealed 6 with acellular mucin alone, 3 with low-grade mucinous epithelium (all 3 with ovarian IM-LMP), and 3 with high-grade mucinous carcinomatosis (all 3 with ovarian mucinous adenocarcinoma). No appendiceal lesions were identified. Follow-up was available in 48% of patients (mean, 61 mo). The only adverse outcomes occurred in the 3 patients with ovarian carcinoma and associated peritoneal carcinomatosis. We report that a significant proportion of mucinous tumors associated with mature ovarian teratomas present with clinical PMP, which in most cases is associated with IM-LMP. PMP in this setting may harbor microscopic intra-abdominal low-grade mucinous epithelium that is histologically and immunophenotypically similar to that typically seen in appendiceal-related PMP. Pseudomyxoma ovarii is common in this setting, particularly in tumors with IM-LMP histology, but pseudomyxoma ovarii is not predictive of PMP. Ovarian teratoma-associated benign and IM-LMP mucinous neoplasms wi...

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The biological basis and function of GNAS mutation in pseudomyxoma peritonei: a review

Lin

2020

J Cancer Res Clin Oncol

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Purpose Pseudomyxoma peritonei (PMP) is a rare clinical malignancy syndrome characterized by the uncontrollable accumulation of copious mucinous ascites in the peritoneal cavity, resulting in “jelly belly”. The mechanism of tumor progression and mucin hypersecretion remains largely unknown, but GNAS mutation is a promising contributor. This review is to systemically summarize the biological background and variant features of GNAS , as well as the impacts of GNAS mutations on mucin expression, tumor cell proliferation, clinical-pathological characteristics, and prognosis of PMP. Methods NCBI PubMed database (in English) and WAN FANG DATA (in Chinese) were used for literature search. And NCBI Gene and Protein databases, Ensembl Genome Browser, COSMIC, UniProt, and RCSB PDB database were used for gene and protein review. Results GNAS encodes guanine nucleotide-binding protein α subunit (Gsα). The mutation sites of GNAS mutation in PMP are relatively stable, usually at Chr20: 57,484,420 (base pair: C-G) and Chr20: 57,484,421 (base pair: G-C). Typical GNAS mutation results in the reduction of GTP enzyme activity in Gsα, causing failure to hydrolyze GTP and release phosphoric acid, and eventually the continuous binding of GTP to Gsα. The activated Gsα could thus continuously promote mucin secretion through stimulating the cAMP-PKA signaling pathway, which is a possible mechanism leading to elevated mucin secretion in PMP. Conclusion GNAS mutation is one of the most important molecular biological features in PMP, with major functions to promote mucin hypersecretion.

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Low-grade mucinous epithelial neoplasm (intestinal type) arising in a mature sacrococcygeal teratoma with late recurrence as pseudomyxoma peritonei

Cited by 6 publications

References 13 publications

Evidence of a dual histogenetic pathway of sacrococcygeal teratomas

Evidence of a dual histogenetic pathway of sacrococcygeal teratomas

Ovarian Mature Teratomas With Mucinous Epithelial Neoplasms: Morphologic Heterogeneity and Association With Pseudomyxoma Peritonei

The biological basis and function of GNAS mutation in pseudomyxoma peritonei: a review

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