A Case of Acute Promyelocytic Leukemia with 46, XX, del(5)(q23)/47, XX, del(5)(q23), +8 but Without (15;17) Translocation.
- Author:
Suk Joong OH
1
;
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
Author Information
1. Department of Internal Medicine, College of Medicine, Hanyang University, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Acute promyelocytic leukemia;
Chromosomal abnormality;
PML/RARalpha
- MeSH:
Adolescent;
Chimera;
Chromosome Aberrations;
Cytogenetics;
Female;
Humans;
Leukemia, Myeloid, Acute;
Leukemia, Promyelocytic, Acute*;
Mosaicism;
Prognosis;
Receptors, Retinoic Acid;
Reverse Transcriptase Polymerase Chain Reaction;
Translocation, Genetic;
Trisomy
- From:Korean Journal of Hematology
2000;35(2):174-178
- CountryRepublic of Korea
- Language:Korean
-
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 (RAR ) 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/RAR 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.
