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

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

• Oh SJ
• Kim H
• Ahn MJ
• Kim IS
• Jeong TJ
• Choi IY
• Chae JD
• Lee WS
• Cho YH
• Lee YY

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.

Keyword

Acute promyelocytic leukemia; Chromosomal abnormality; PML/RARalpha

MeSH Terms

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
Receptors, Retinoic Acid