eJHaem
(Aug 2024)
Small cell pattern of ALK‐negative anaplastic large cell lymphoma with double‐hit rearrangements of DUSP22 and TP63
Yui Niiyama‐Uchibori,
Shinsuke Mizutani,
Taku Tsukamoto,
Haruya Okamoto,
Daisuke Ide,
Akio Onishi,
Daishi Kato,
Takahiro Fujino,
Yuji Shimira,
Aya Miyagawa‐Hayashino,
Eiichi Konishi,
Kennosuke Karube,
Yasuhito Nannya,
Junya Kuroda
Affiliations
Yui Niiyama‐Uchibori
Division of Hematology and Oncology Department of Medicine Kyoto Prefectural University of Medicine Kyoto Japan
Shinsuke Mizutani
Division of Hematology and Oncology Department of Medicine Kyoto Prefectural University of Medicine Kyoto Japan
Taku Tsukamoto
Division of Hematology and Oncology Department of Medicine Kyoto Prefectural University of Medicine Kyoto Japan
Haruya Okamoto
Division of Hematology and Oncology Department of Medicine Kyoto Prefectural University of Medicine Kyoto Japan
Daisuke Ide
Division of Hematology and Oncology Department of Medicine Kyoto Prefectural University of Medicine Kyoto Japan
Akio Onishi
Division of Hematology and Oncology Department of Medicine Kyoto Prefectural University of Medicine Kyoto Japan
Daishi Kato
Division of Hematology and Oncology Department of Medicine Kyoto Prefectural University of Medicine Kyoto Japan
Takahiro Fujino
Division of Hematology and Oncology Department of Medicine Kyoto Prefectural University of Medicine Kyoto Japan
Yuji Shimira
Division of Hematology and Oncology Department of Medicine Kyoto Prefectural University of Medicine Kyoto Japan
Aya Miyagawa‐Hayashino
Department of Surgical Pathology Kyoto Prefectural University of Medicine Kyoto Japan
Eiichi Konishi
Department of Surgical Pathology Kyoto Prefectural University of Medicine Kyoto Japan
Kennosuke Karube
Department of Pathology and Laboratory Medicine Nagoya University Graduate School of Medicine Nagoya Japan
Yasuhito Nannya
Division of Hematopoietic Disease Control Institute of Medical Science The University of Tokyo Tokyo Japan
Junya Kuroda
Division of Hematology and Oncology Department of Medicine Kyoto Prefectural University of Medicine Kyoto Japan
DOI
https://doi.org/10.1002/jha2.960
Journal volume & issue
Vol. 5,
no. 4
Abstract
Read online
Abstract In ALK‐negative anaplastic large cell lymphoma (ALCL), gene rearrangements of DUSP22 and TP63 are considered mutually exclusive. The former predicts a favorable prognosis, while the latter is generally unfavorable. We report the first case of ALK‐negative ALCL in a leukemic phase with small cell pattern transformation, harboring double‐hit rearrangements of the DUSP22 gene by inv(6)(p25q21) and TP63 gene by TBL1XR1‐TP63 inversion. Despite the resistance to chemotherapies, the patient remained in remission with allogeneic stem cell transplantation over 20 months. Recognizing this pathologically and genetically rare condition is needed for prompt diagnosis and therapeutic decision‐making in ALK‐negative ALCL.
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