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

doi:10.1002/jha2.960

Small cell pattern of ALK-negative anaplastic large cell lymphoma with double-hit rearrangements of DUSP22 and TP63

EJHaem. 2024 Jun 17;5(4):798-801. doi: 10.1002/jha2.960. eCollection 2024 Aug.

Authors

Affiliations

¹ Division of Hematology and Oncology Department of Medicine Kyoto Prefectural University of Medicine Kyoto Japan.
² Department of Hematology Japanese Red Cross Kyoto Daiichi Hospital Kyoto Japan.
³ Department of Surgical Pathology Kyoto Prefectural University of Medicine Kyoto Japan.
⁴ Department of Pathology and Laboratory Medicine Nagoya University Graduate School of Medicine Nagoya Japan.
⁵ Division of Hematopoietic Disease Control Institute of Medical Science The University of Tokyo Tokyo Japan.
⁶ Department of Pathology and Tumor Biology Kyoto University Kyoto Japan.

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.

Keywords: ALK‐negative anaplastic large cell lymphoma; DUSP22 gene rearrangement; TBL1XR1‐TP63 inversion; TP63 gene rearrangement; small cell pattern.