Genetic Factors in Familial Manifestation of Primary Mediastinal Large B-Cell Lymphoma over Two Generations.

ABSTRACT:

Introduction

Primary mediastinal large B-cell lymphoma (PMBL) is a rarely occurring lymphoid malignancy which typically affects young adults and presents itself as an anterior mediastinal mass. Gene expression profiling as well as somatic genetic analysis revealed that it is closely related to classical Hodgkin lymphoma, whereas morphologically, it tends to resemble diffuse large B-cell lymphoma. Familial clustering of PMBL is rare - only two reports have been published to date. While it is generally accepted that positive family history is associated with increased risk of developing a lymphoma, genetic risk factors which might predispose to PMBL are largely unknown.

Case presentation

We performed germline and tumor genetic analyses by whole-exome sequencing and array-CGH o

SUBMITTER: Juskevicius D 

PROVIDER: S-EPMC10733924 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature