Acute Promyelocytic Leukemia with the Pseudo-Chediak-Higashi Anomaly and Molecular Documentation of t(15; 17) Chromosomal Translocation

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Abstract
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, a t(15;17) translocation was documented using Southern blot genotypic analysis and probes for the retinoic acid receptor-α 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.

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