Korean J Hematol 2000; 35(2):

Published online June 30, 2000

© The Korean Society of Hematology

t(15;17)전위 동반 없이 46, XX, del(5)(q23)/47, XX, del(5)(q23), +8 염색체 이상을 보인 급성 전골수구성 백혈병(M3) 1례

오석중, 김혁, 안명주, 김인순, 정태준, 최일영, 채정돈, 이웅수, 조율희, 이영열

한양대학교 의과대학 내과학교실,
한양대학교 의과대학 임상병리학교실,
한양대학교 의과대학 유전학교실

A Case of Acute Promyelocytic Leukemia with 46, XX, del(5)(q23)/47, XX, del(5)(q23), +8 but Without (15;17) Translocation

Suk Joong Oh, Hawk Kim, Myung Ju Ahn, In Soon Kim, Tae Joon Jeong, Il Young Choi, Jeong Don Chae, Woong Soo Lee, Youl Hee Cho, Young Yiul Lee

Department of Internal Medicine, Clinical Pathology, Genetics, College of Medicine, Hanyang University, Seoul, Korea

Abstract

Acute promyelocytic leukemia (APL/AML-M3) is a distinct subtype of acute myelogenous leukemia, which is characterized by unique morphologic, cytogenetic, molecular, and clinical features. In almost all APL patients, a characteristic t(15;17)(q22;q21) is found, resulting from the fusion of the PML gene and retinoic acid receptor alpha (RARα)gene. This chromosomal translocation in APL may present variant translocations, and may be associated with secondary chromosomal abnormalities. The most frequent accompanying karyotypic aberration is trisomy 8 in APL.
We are reporting a case of a 17-year-old woman who was diagnosed with APL. Cytogenetic study revealed that 46, XX, del(5)(q23)/47, XX, del(5)(q23), +8 chromosomal abnormality but without t(15;17). However, the presence of PML/RARα chimera was found with reverse transcriptase PCR. It is well known that the association of trisomy 8 on top of t(15;17) in APL cases. However, in our review, the mosaicism of del(5)(q23) with trisomy 8 in APL might be the first case. Whether this patient will behave the
typical APL cases having good prognosis or not will be interesting to see.

Keywords Acute promyelocytic leukemia; Chromosomal abnormality; PML/RARα;

Article

Korean J Hematol 2000; 35(2): 174-178

Published online June 30, 2000

Copyright © The Korean Society of Hematology.

t(15;17)전위 동반 없이 46, XX, del(5)(q23)/47, XX, del(5)(q23), +8 염색체 이상을 보인 급성 전골수구성 백혈병(M3) 1례

오석중, 김혁, 안명주, 김인순, 정태준, 최일영, 채정돈, 이웅수, 조율희, 이영열

한양대학교 의과대학 내과학교실,
한양대학교 의과대학 임상병리학교실,
한양대학교 의과대학 유전학교실

A Case of Acute Promyelocytic Leukemia with 46, XX, del(5)(q23)/47, XX, del(5)(q23), +8 but Without (15;17) Translocation

Suk Joong Oh, Hawk Kim, Myung Ju Ahn, In Soon Kim, Tae Joon Jeong, Il Young Choi, Jeong Don Chae, Woong Soo Lee, Youl Hee Cho, Young Yiul Lee

Department of Internal Medicine, Clinical Pathology, Genetics, College of Medicine, Hanyang University, Seoul, Korea

Abstract

Acute promyelocytic leukemia (APL/AML-M3) is a distinct subtype of acute myelogenous leukemia, which is characterized by unique morphologic, cytogenetic, molecular, and clinical features. In almost all APL patients, a characteristic t(15;17)(q22;q21) is found, resulting from the fusion of the PML gene and retinoic acid receptor alpha (RARα)gene. This chromosomal translocation in APL may present variant translocations, and may be associated with secondary chromosomal abnormalities. The most frequent accompanying karyotypic aberration is trisomy 8 in APL.
We are reporting a case of a 17-year-old woman who was diagnosed with APL. Cytogenetic study revealed that 46, XX, del(5)(q23)/47, XX, del(5)(q23), +8 chromosomal abnormality but without t(15;17). However, the presence of PML/RARα chimera was found with reverse transcriptase PCR. It is well known that the association of trisomy 8 on top of t(15;17) in APL cases. However, in our review, the mosaicism of del(5)(q23) with trisomy 8 in APL might be the first case. Whether this patient will behave the
typical APL cases having good prognosis or not will be interesting to see.

Keywords: Acute promyelocytic leukemia, Chromosomal abnormality, PML/RARα,

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