Korean J Hematol 2000; 35(2):
Published online June 30, 2000
© The Korean Society of Hematology
오석중, 김혁, 안명주, 김인순, 정태준, 최일영, 채정돈, 이웅수, 조율희, 이영열
한양대학교 의과대학 내과학교실,
한양대학교 의과대학 임상병리학교실,
한양대학교 의과대학 유전학교실
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;
Korean J Hematol 2000; 35(2): 174-178
Published online June 30, 2000
Copyright © The Korean Society of Hematology.
오석중, 김혁, 안명주, 김인순, 정태준, 최일영, 채정돈, 이웅수, 조율희, 이영열
한양대학교 의과대학 내과학교실,
한양대학교 의과대학 임상병리학교실,
한양대학교 의과대학 유전학교실
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
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,
Gi-June Min, Byung-Sik Cho, Sung-Soo Park, Silvia Park, Young-Woo Jeon, Seung-Ah Yahng, Seung-Hawn Shin, Jae-Ho Yoon, Sung-Eun Lee, Ki-Seong Eom, Yoo-Jin Kim, Seok Lee, Chang-Ki Min, Seok-Goo Cho, Jong Wook Lee, Hee-Je Kim
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