期刊
PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
卷 -, 期 -, 页码 -出版社
SAGE PUBLICATIONS INC
DOI: 10.1177/10935266231212337
关键词
B-lymphoblastic lymphoma; TdT positive; MYC rearrangement, triple-hit lymphoma; pediatric leukemia
B-lymphoblastic leukemia/lymphoma (B-ALL/LBL) is a B-cell neoplasm with specific genetic/molecular abnormalities, requiring extensive testing for appropriate classification and treatment. This case report presents a patient with B-LBL harboring IGH::MYC, BCL2, BCL6 rearrangements, and TP53 inactivation. The use of a multimodal approach facilitated classification and selection of the therapeutic regimen.
B-lymphoblastic leukemia/lymphoma (B-ALL/LBL) is a precursor B-cell neoplasm that often harbors specific cytogenetic/molecular abnormalities with distinctive clinical, phenotypic, and prognostic characteristics. Subcategorization of B-ALL/LBL therefore requires extensive cytogenetic and/or molecular testing to determine the appropriate classification and therapeutic interventions for these patients. Herein, we present a case of a 17-year-old young woman diagnosed with B-LBL harboring not only an IGH::MYC rearrangement but also BCL2 and BCL6 rearrangements (so-called triple-hit) and somatic biallelic TP53 inactivation. MYC rearrangements are relatively rare in B-ALL/LBL, and the identification of a triple-hit elicited an initial diagnostic dilemma. However, a multimodal approach allowed for the classification of this complex case and helped guide selection of an appropriate therapeutic regimen.
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