Mixed-phenotype leukemia with TCF3::ZNF384 fusion presenting as an isolated mediastinal mass

Wing-Yan Au; Chit Chow; Ka-Fai To; Edmond S K Ma; Eugene C L Yeung; Wai-Lun Yip; Helen M H Chan; Harinder Gill

doi:10.1007/s00277-024-06042-x

Mixed-phenotype leukemia with TCF3::ZNF384 fusion presenting as an isolated mediastinal mass

Ann Hematol. 2024 Nov 12. doi: 10.1007/s00277-024-06042-x. Online ahead of print.

Authors

Wing-Yan Au¹, Chit Chow², Ka-Fai To², Edmond S K Ma³, Eugene C L Yeung⁴, Wai-Lun Yip⁵, Helen M H Chan⁶, Harinder Gill^{7

8}

Affiliations

¹ Blood-Med Clinic, Central, Hong Kong.
² Department of Anatomical and Cellular Pathology, the Chinese University of Hong Kong, Ma Liu Shui, Hong Kong.
³ Department of Clinical and Molecular Pathology, Hong Kong Sanatorium and Hospital, Happy Valley, Hong Kong.
⁴ Ethics First Medical Practice HK, Harbour City, Hong Kong.
⁵ Department of Pathology, the Hong Kong Baptist Hospital, Kowloon Tong, Hong Kong.
⁶ Department of Medicine, Union Hospital, Tai Wai, Hong Kong.
⁷ Department of Medicine, School of Clinical Medicine, LKS Faculty of Medicine, the University of Hong Kong, Pok Fu Lam, Hong Kong. [email protected].
⁸ Department of Medicine, Queen Mary Hospital, Professorial Block, Pokfulam Road, Hong Kong, China. [email protected].

PMID: 39531055
DOI: 10.1007/s00277-024-06042-x

Abstract

Acute leukemia with TCF3::ZNF384 is a distinct type of acute leukemia that present most commonly as B-acute lymphoblastic leukemia or mixed-phenotype acute leukemia (B/myeloid). We report the first case of TCF3::ZNF384 mixed-phenotype leukemia presenting as isolated extramedullary disease in the mediastinum. Diagnosis using RNA-sequencing and whole genome sequencing on the primary issue is illustrated.

Keywords: TCF3::ZNF384; Mixed-phenotype leukemia; Myeloid sarcoma; RNA-sequencing; Whole genome sequencing.