Genetic features of B-cell lymphoblastic lymphoma with TCF3-PBX1.

ABSTRACT:

Background

Lymphoblastic lymphoma (LBL) and acute lymphoblastic leukemia (ALL) are categorized as the same entity under precursor lymphoid neoplasms in the World Health Organization classification. However, compared to B-cell ALL, the molecular genetic makeup of B-cell LBL remains to be understood, mainly due to its rarity. We performed whole exome sequencing (WES) on seven patients with TCF3-PBX1-positive B-cell LBL.

Methods

WES was performed using DNA extracted from tumor specimens and paired blood samples at remission for six patients, and tumor-only analysis was performed for one patient whose remission sample was not available. For one patient, a relapsed sample was also analyzed.

Results

KMT2D variants and 6q LOH were found as recurrent alterations. Somatic vari

SUBMITTER: Shirai R 

PROVIDER: S-EPMC9458492 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature