Persistent clonal cytogenetic abnormality with del(20q) from an initial diagnosis of acute promyelocytic leukemia

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Persistent clonal cytogenetic abnormality with del(20q) from an initial diagnosis of acute promyelocytic leukemia Machiko Fujioka1,2 · Hidehiro Itonaga2   · Takeharu Kato3 · Yasuhito Nannya4 · Miki Hashimoto2 · Sachie Kasai5 · Eo Toriyama5 · Rena Kamijo5 · Masataka Taguchi1 · Hiroaki Taniguchi5 · Shinya Sato1 · Sunao Atogami6 · Yoshitaka Imaizumi2 · Tomoko Hata2 · Yukiyoshi Moriuchi5 · Seishi Ogawa4 · Yasushi Miyazaki1,2 Received: 15 April 2019 / Revised: 3 September 2019 / Accepted: 4 September 2019 © Japanese Society of Hematology 2019

Abstract A 68-year-old male was diagnosed with acute promyelocytic leukemia (APL). A G-banding chromosomal analysis revealed the co-existence of two clones: one with del(20q) and t(15;17)(q22;q12) and another with del(20q) alone. During the remission of APL following treatment with all-trans-retinoic acid, del(20q) was persistently identified, indicating a diagnosis of cytogenetic abnormalities of undetermined significance (CCAUS) with isolated del(20q). Bicytopenia developed 48 months after the remission of APL. The presence of isolated del(20q) was detected in the G-banding analysis, whereas morphological dysplasia of hematopoietic cells was not confirmed. This case showed indolent progression from CCAUS after the remission of APL to clonal cytopenia of undetermined significance (CCUS). CCUS with isolated del(20q) persisted for 24 months without any finding of hematological malignancies. At the most recent follow-up, targeted capture sequencing showed the U2AF1 S34F mutation. Considerable attention needs to be paid in follow-ups for CCAUS with del(20q) after the treatment of leukemia. Keywords  Clonal hematopoiesis · Cytopenia of undetermined significance (CCUS) · del(20q) · Acute promyelocytic leukemia · All-trans-retinoic acid

Introduction

* Hidehiro Itonaga itonaga‑[email protected] 1



Department of Hematology, Nagasaki University Hospital, Nagasaki, Japan

2



Department of Hematology, Atomic Bomb Disease and Hibakusha Medicine Unit, Atomic Bomb Disease Institute, Nagasaki University, 1‑12‑4 Sakamoto, Nagasaki, Japan

3

Department of Hematology, National Hospital Organization Nagasaki Medical Center, Omura, Japan

4

Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan

5

Department of Hematology, Sasebo City General Hospital, Sasebo, Japan

6

Department of Laboratory Medicine, Sasebo City General Hospital, Sasebo, Japan



Clonal hematopoiesis may be identified by the presence of the clonal expansion of hematopoietic cells in some elderly individuals without cytopenia. Clonal hematopoiesis was initially reported in the previous studies, showing that healthy women older than 65 years had a skewed pattern of X-chromosome inactivation in peripheral blood cells [1, 2]. Clonal hematopoiesis with somatic mutations was recently defined as clonal hematopoiesis of indeterminate potential (CHIP) [3-7]. Previous studies showed that some leukemia patients in remission after chemotherapy had clonal hematopoiesis with