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PMID: 33298649 Published · ppublish jpn

[Therapy-related acute promyelocytic leukemia with complex karyotype accompanied by cryptic PML/RARA on chromosome 15 by metaphase FISH].

[Rinsho ketsueki] The Japanese journal of clinical hematology ·Vol. 61 ·No. 11 ·2020-00-00

Kashima E, Sugimoto Y, Nato Y, Ino K, Tawara I, Masuya M, Katayama N

Abstract

A 53-year-old male presented with pancytopenia for 13 months. He had a past history of follicular lymphoma and hypopharyngeal cancer, which was treated via chemotherapy and radiotherapy. Bone marrow aspiration biopsy of the patient revealed a hypocellular marrow with 32% of hypergranular blasts without Auer bodies. There were also erythroid and megakaryocytic dysplasia in the bone marrow. Although the PML/RARA transcript was detected by fluorescence in situ hybridization (FISH) and reverse transcription polymerase chain reaction (RT-PCR), the G-banding karyotype analysis showed a complex karyotype without t (15;17). The PML/RARA fusion signal was identified on chromosome 15 by metaphase FISH. The patient was diagnosed of therapy-related acute promyelocytic leukemia (t-APL) with cryptic PML/RARA. He successfully attained molecular complete remission with all-trans retinoic acid (ATRA) and two courses of arsenic trioxide (ATO). He was subsequently administered nivolumab without ATRA maintenance therapy because of a progressing metastasis of a hypopharyngeal cancer to the lung. The patient had a relapse of t-APL following nine courses of nivolumab, 8 months after ending consolidation therapy with ATO. Reinduction therapy with ATRA was not effective for the relapsed t-APL that was accompanied by del (5q) and monosomy 7. Little has been previously reported on t-APL with cryptic PML/RARA. Therefore, the clinical course of this patient may provide useful insights about the characteristics of t-APL with cryptic PML/RARA.

Keywords
Cryptic PML/RARA Metaphase FISH Myelodysplasia Therapy-related APL
MeSH 主题词
Chromosomes, Human, Pair 15/genetics Humans In Situ Hybridization, Fluorescence Karyotype Leukemia, Promyelocytic, Acute/drug therapy,genetics Male Metaphase Middle Aged Oncogene Proteins, Fusion/genetics Tretinoin
Article Info
Journal
[Rinsho ketsueki] The Japanese journal of clinical hematology
Abbr.
Rinsho Ketsueki
ISSN
0485-1439
Published
2020-00-00
Language
jpn
Country/Region
Japan
NLM ID
2984782R
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