welcome to oneFAPvoice
- a positively charged Familial Adenomatous Polyposis community.- join today!
- login
Ovarian Microcystic Stromal Tumor: A Novel Extracolonic Tumor in Familial Adenomatous Polyposis
source: Genes, Chromosomes & Cancer
year: 2015
authors: Lee SH, Koh YW, Roh HJ, Cha HJ, Kwon YS
summary/abstract:Ovarian microcystic stromal tumor (MCST) is a very rare neoplasm; hence, its nomenclature was recently designated as “Distinctive morphologic and immunohistochemical features” in 2009. Its exact origin, etiological genetic alterations, and background are not yet clearly known. Familial adenomatous polyposis (FAP) is an autosomal dominant disease that leads to development of colorectal polyps via germ-line mutations of the APC gene on chromosome 5q21∼22. In this study, we report a 40-year-old female patient who had ovarian MCST and FAP. On sequencing the APC gene in ovarian MSCT, we detected a novel somatic mutation of the APC gene in exon 11, with a heterozygous deletion at nucleotide position c.1540delG (p.Ala514 Profs*9). Mutations of β-catenin (CTNNB1) and FOXL2 were not detected. Although one case demonstrating involvement of Wnt/β-catenin in ovarian MCST associated with FAP has been presented previously, no detailed information was provided. Thus, this is the ovarian MCST with a somatic mutation of APC in a patient with FAP.
organization: University of Ulsan College of MedicineDOI: 10.1002/gcc.22233
read more full text source
expertly curated content related to this topic
-
Biology of Colorectal CancerColorectal cancer is a serious health pr...
-
Desmoid Tumor of Mesentery in Familial Adenomatous Polyposis: A Case ReportOur case concerns a 52-year-old male wit...
-
Live Chat About the FAP 310 Clinical Trialhttps://www.youtube.com/watch?v=tKHUFgyO...
-
Risk of Thyroid Cancer Among Caribbean Hispanic Patients with Familial Adenomatous PolyposisFamilial adenomatous polyposis (FAP) is ...
-
Clinical Practice Guidelines for Surveillance Colonoscopy – in Adenoma Follow-up; Following Curative Resection of ...SUMMARY OF CLINICAL PRACTICE RECOMMENDAT...
-
Jejunal Cancer in Patients With Familial Adenomatous PolyposisBACKGROUND & AIMS: Familial adenoma...
-
Familial Adenomatous Polyposis-Related Desmoids Presenting with Air-Fluid Level: A Clinical Review and Management Al...BACKGROUND : Familial adenomatous polypo...