Cytogenetics, FISH and RT-PCR Analysis of Acute Promyelocytic Leukemia: Structure of the Fusion Point in a Case Lacking Classic t(15;17) Translocation

Abstract

Different subtypes of acute myelogenous leukemia have distinct clinical presentations and courses. The specific clinical and molecular aspects of these leukemias have helped modify and create specific strategies for their management. We observed an increased incidence of pulmonary complications in patients with acute myelomonocytic leukemias (AMML) with inversion of chromosome 16 [inv(16)] irrespective of the presence of hyperleukocytosis. We reviewed patient records available over a period of 12 years at The Cleveland Clinic Foundation of patients with AMML with inv(16) and compared the incidence of pulmonary complications to a matched control group of patients with AMML but without inv(16). We found an increased incidence of pulmonary complications in the AMML with inv(16)group when compared to the control group. Two of these patients demonstrated brochiolitis obliterans with organizing pneumonia (BOOP) on lung biopsy. No specific etiology for the pulmonary complications was identified. These findings represent the first observation of an association between WHO-AMML with inv(16) [FAB-AML M4 with inv(16)] with a pulmonary syndrome at presentation. BOOP should be suspected in these cases. A larger prospective study to evaluate this association is warranted.

Acute Leukemia with M3 Morphology Without Cytogenetic Abnormalities Related to Acute Promyelocytic Leukemia: Description of a Refractory Pediatric Case

“…The mean age of those patients was 58 years (range, 56-60 years). This older age was also observed in another case report, 15 on a 50-year-old patient who presented morphology and immunophenotyping characteristic of APL but who was cytogenetically normal. However, FISH analysis showed ins(17;15)(q21;q22), and the patient responded to the use of ATRA.…”