ABSTRACT
We report a woman with acute myeloid leukaemia (AML) type M2 according to FAB classification, showing a t(15;17) apparently identical to that of acute promyelocytic leukaemia (APL) on conventional cytogenetic analysis. Fluorescence in situ hybridization (FISH) using cosmidic probes specific for RAR alpha and PML, regions did not show a fusion signal as in APL. The breakpoints were assigned to 15q24.3 and 17q21.1. Detailed molecular analyses did not reveal any involvement of RAR alpha and PML genes. The patient was resistant to several front-line AMI treatments and to all-trans retinoic acid (ATRA). These findings reinforce FISH and RT-PCR as useful tools for the characterization of a t(15;17) as the translocation specifically associated with APL.
Subject(s)
Chromosomes, Human, Pair 15 , Chromosomes, Human, Pair 17 , Leukemia, Promyelocytic, Acute/genetics , Translocation, Genetic , Adult , Drug Resistance, Neoplasm , Female , Humans , In Situ Hybridization, Fluorescence , Karyotyping , Polymerase Chain ReactionABSTRACT
BACKGROUND. The myelodysplastic syndromes (MDS) are a heterogeneous group of clonal hematopoietic stem cell disorders characterized by peripheral pancytopenia, abnormal bone marrow differentiation and a high risk of leukemic transformation. The role of karyotypic abnormalities in the pathogenesis of MDS is still unclear. In this paper we present the hematologic and cytogenetic findings in 99 patients with de novo MDS. RESULTS AND CONCLUSIONS. Fifty-three cases had chromosomal abnormalities nor complex karyotypes were associated with the morphologic subsets described by the FAB criteria. Nevertheless, the karyotypic profile is prognostically important, as indicated by the fact that patients with complex karyotype abnormalities have very short survival.
Subject(s)
Chromosome Aberrations , Myelodysplastic Syndromes/genetics , Adult , Aged , Blood Cell Count , Bone Marrow/pathology , Chromosome Banding , Female , Hemoglobins/analysis , Humans , Karyotyping , Male , Middle Aged , Myelodysplastic Syndromes/blood , Myelodysplastic Syndromes/mortality , Prognosis , Prospective Studies , Survival AnalysisABSTRACT
Small round cell tumors are among the most common problems in the differential diagnosis of cancer, even when more sophisticated histological techniques are utilized (Ezinger and Weiss: In Soft Tissue Tumors. St. Louis: CV Mosby, 1988, pp 668-683). Six cases of small round cell tumors are described the diagnosis of which was particularly difficult. Cytogenetic analysis provided useful information in all of them in making the definitive diagnosis. The reported cases stress the value of cytogenetic methods in approaching difficult diagnostic problems.
