Acute promyelocytic leukemia with the pseudo-Chediak-Higashi anomaly and molecular documentation of t(15;17) chromosomal translocation.
Two morphologic variants of acute promyelocytic leukemia (AML M3) are recognized--the hypergranular form, in which Auer rods are usually numerous; and the microgranular form. The case of AML M3 reported here lacked numerous Auer rods but was hypergranular and demonstrated prominent giant Chediak-Higashi-like granules in the leukemic cells. Although routine karyotypic studies were inconclusive, at t(15;17) translocation was documented using Southern blot genotypic analysis and probes for the retinoic acid receptor-alpha and pml genes. This is the first case of this unusual morphologic anomaly in which the granules are described in routine histologic sections and the first with evidence of a t(15;17) chromosomal translocation. It also illustrates the importance of Southern blot analysis in suspected cases of AML M3 with "negative" karyotypic studies.
Symes
P H
PH
University of Cincinnati College of Medicine, Department of Internal Medicine, Ohio.
Williams
M E
ME
Flessa
H C
HC
Srivastava
A K
AK
Swerdlow
S H
SH
D000293:Adolescent; D015139:Blotting, Southern; D002352:Carrier Proteins / Q000235:genetics; D002609:Chediak-Higashi Syndrome / Q000150:complications* / Q000235:genetics*; D002884:Chromosomes, Human, Pair 15; D002886:Chromosomes, Human, Pair 17; D004273:DNA, Neoplasm / Q000235:genetics; D005434:Flow Cytometry; D005838:Genotype; D006801:Humans; D016130:Immunophenotyping; D007621:Karyotyping; D015473:Leukemia, Promyelocytic, Acute / Q000150:complications* / Q000235:genetics*; D008297:Male; D018168:Receptors, Retinoic Acid; D014178:Translocation, Genetic
D002352:Carrier Proteins; D004273:DNA, Neoplasm; D018168:Receptors, Retinoic Acid