Concurrent Bone Marrow Acute Undifferentiated Leukemia and Mediastinal T‐Lymphoblastic Lymphoma With Identical SET::NUP214 Fusion and PHF6 and EZH2 Mutations

Authors

Qing Wei
Fatima Z Jelloul
Sa A Wang
Guilin Tang
Shaoying Li
Pei Lin
Sanam Loghavi
Huan-You Wang
L Jeffrey Medeiros
Jie Xu

Publication Date

4-1-2025

Journal

eJHaem

Abstract

Acute undifferentiated leukemia (AUL) is a rare hematologic malignancy lacking lineage‐specific markers. Concurrent, clonally related AUL and T‐lymphoblastic lymphoma (T‐LBL) has not been reported previously. Here we describe a patient who was diagnosed with AUL in the bone marrow and T‐LBL in the mediastinum after a thorough immunophenotyping by flow cytometry and immunohistochemistry. Despite their immunophenotypic differences, the AUL and T‐LBL showed identical genetic alterations: SET::NUP214 fusion, PHF6, and EZH2 mutations. The patient achieved and remained in complete remission after chemotherapy and stem cell transplantation. This case underscores the value of comprehensive immunophenotyping and genetic analysis in rare hematologic malignancies.

Keywords

acute leukemia, clonal related, T‐cell lymphoma

DOI

10.1002/jha2.70034

PMID

40264515

PMCID

PMC12012753

PubMedCentral® Posted Date

4-22-2025

PubMedCentral® Full Text Version

Post-print

Published Open-Access

yes