A second hit somatic (p.R905W) and a novel germline intron-mutation of TSC2 gene is found in intestinal lymphangioleiomyomatosis: a case report with literature review

A second hit somatic (p.R905W) and a novel germline intron-mutation of TSC2 gene is found in intestinal lymphangioleiomyomatosis: a case report with literature review

Abstract Background Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomas in multiple organs associated with germline mutations in TSC1 and TSC2, including exonic, intronic, or mosaic mutations. Gastrointestinal (GI) tract Lymphangioleiomyomatosis (LAM) is an...

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Bibliographic Details
Main Authors: Bogyeong Han, Juhwan Lee, Yoon Jin Kwak, Hyun-Young Kim, Kwang Hoon Lee, Yumi Shim, Hyunju Lee, Sung-Hye Park
Format: Article
Language:English
Published: BMC 2021-08-01
Series:Diagnostic Pathology
Subjects:
Intron retention
Lymphangioleiomyomatosis
Germline mutation
Somatic mutation
Perivascular epithelioid cell tumor (PEComa)
Tuberous sclerosis complex
Online Access:https://doi.org/10.1186/s13000-021-01138-8

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