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

  • Machiko Fujioka
  • Hidehiro ItonagaEmail author
  • Takeharu Kato
  • Yasuhito Nannya
  • Miki Hashimoto
  • Sachie Kasai
  • Eo Toriyama
  • Rena Kamijo
  • Masataka Taguchi
  • Hiroaki Taniguchi
  • Shinya Sato
  • Sunao Atogami
  • Yoshitaka Imaizumi
  • Tomoko Hata
  • Yukiyoshi Moriuchi
  • Seishi Ogawa
  • Yasushi Miyazaki
Case Report

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 

Notes

Acknowledgements

This work was partially supported by the Japan Society for the Promotion of Science (JSPS) KAKENHI Grant-in Aid for Young Scientists (B) (#17K16189). The advice of Dr. Kazutaka Kuriyama (Nagasaki Harbor Medical Center) on the morphological findings of this case was greatly appreciated.

Compliance with ethical standards

Conflict of interest

The authors state that they have no conflict of interest (COI).

Ethical standards

This genetic analysis was approved by the Ethical Committees of Nagasaki University Hospital and Sasebo City General Hospital. Informed consent was obtained from the patient according to the Declaration of Helsinki.

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Copyright information

© Japanese Society of Hematology 2019

Authors and Affiliations

  • Machiko Fujioka
    • 1
    • 2
  • Hidehiro Itonaga
    • 2
    Email author
  • Takeharu Kato
    • 3
  • Yasuhito Nannya
    • 4
  • Miki Hashimoto
    • 2
  • Sachie Kasai
    • 5
  • Eo Toriyama
    • 5
  • Rena Kamijo
    • 5
  • Masataka Taguchi
    • 1
  • Hiroaki Taniguchi
    • 5
  • Shinya Sato
    • 1
  • Sunao Atogami
    • 6
  • Yoshitaka Imaizumi
    • 2
  • Tomoko Hata
    • 2
  • Yukiyoshi Moriuchi
    • 5
  • Seishi Ogawa
    • 4
  • Yasushi Miyazaki
    • 1
    • 2
  1. 1.Department of HematologyNagasaki University HospitalNagasakiJapan
  2. 2.Department of Hematology, Atomic Bomb Disease and Hibakusha Medicine Unit, Atomic Bomb Disease InstituteNagasaki UniversityNagasakiJapan
  3. 3.Department of HematologyNational Hospital Organization Nagasaki Medical CenterOmuraJapan
  4. 4.Department of Pathology and Tumor Biology, Graduate School of MedicineKyoto UniversityKyotoJapan
  5. 5.Department of HematologySasebo City General HospitalSaseboJapan
  6. 6.Department of Laboratory MedicineSasebo City General HospitalSaseboJapan

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