Ph. Symes et al., ACUTE PROMYELOCYTIC LEUKEMIA WITH THE PSEUDO-CHEDIAK-HIGASHI ANOMALY AND MOLECULAR DOCUMENTATION OF T(15,17) CHROMOSOMAL TRANSLOCATION, American journal of clinical pathology, 99(5), 1993, pp. 622-627
Two morphologic variants of acute promyelocytic leukemia (AML M3) are
recognized-the hypergranular form, in which Auer rods are usually nume
rous; and the microgranular form. The case of AML M3 reported here lac
ked numerous Auer rods but was hypergranular and demonstrated prominen
t giant Chediak-Higashi-like granules in the leukemic cells. Although
routine karyotypic studies were inconclusive, a 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 describ
ed in routine histologic sections and the first with evidence of a t(1
5;17) chromosomal translocation. It also illustrates the importance of
Southern blot analysis in suspected cases of AML M3 with ''negative''
karyotypic studies.