Trisomy 9 in a Patient with Acute Myelogenous Leukaemia FAB Type M2: A Rare Occurrence

Abstract

Complete trisomy 9 is a rare cytogenetic abnormality in haematological malignancies. Here we present the case history of a patient with clinical diagnosis of acute myeloblastic leukaemia (FAB type M2) and having trisomy 9 with adverse outcome.

Acute Myeloid Leukemia with Concurrent Inversion 16 and Trisomy 9: A Case Report

“…When present, trisomy 9 is considered to be an intermediate risk factor although literature to substantiate its role in disease progression is insufficient. 6,7 Concurrent presence of inversion 16 and trisomy 9 has not been reported in currently published literature, to the best of our knowledge. We present a case of de novo AML-M4 with concurrent inversion 16 and trisomy 9 in a young female.…”

“…Trisomy 9 is a rare occurrence and its presence is considered as an intermediate risk factor. 7 Inversion 16 is one of the three recurrent cytogenetic abnormalities associated with high rates of complete remission and clinically favorable prognosis. It is often seen in cases of AML-M4 with eosinophilia, characterized by the presence of atypical eosinophils in bone marrow smear and rarely with M2 and M5 subtypes.…”

“…Isolated trisomy 9 is considered a low-to-intermediate risk factor, but in concurrence with other cytogenetic abnormalities, it may result in the rapid progression of disease with consequent poor prognosis. 6 7 10 Delaunay et al showed that the presence of other additional chromosome structure or number abnormalities or persistence of normal metaphases had no significant impact on CR rate. 11 12 13 Its role in prognostic stratification of AML is not well established due to the rarity of its occurrence.…”

Cytogenetic Evolution in a Patient with Chronic developing a Secondary Acute Myelogenous Leukemia Subtype M5 Resistant to Imatinib Mesylate Therapy

“…Trisomy 9 is rarely reported in AML, when present has intermediate prognosis; it has also been considered as marker for benzene-related leukemogenesis, common in systemic mastocytosis and myeloproliferative disorders [4]. Trisomy 10, as a sole cytogenetic abnormality, has rarely been seen in ALL and MDS.…”

“…The presence of some single acquired autosomal trisomies may be indicative for prognosis, too [4]. Trisomies 9 and 10 are rare observed in AML [4,5]. RT-PCR-analysis for BCR/ABL and AME fusion transcripts were done on samples taken 6, 15 and 19 months after diagnosis.…”