Abstract
Identification of cytogenetic abnormalities plays an important role in the diagnosis and prognosis of leukemias. Isolated trisomy 6 is a rare abnormality, the prognostic significance of which is not well established. We report one case of acute myeloid leukemia (AML-M5 variant) with trisomy 6 as the sole cytogenetic abnormality. Previously, trisomy 6 has been reported in aplastic anemia, myelodysplastic syndrome, and AML, usually associated with hypocellular marrow. However, our patient had a very short history and hypercellular marrow infiltrated with blasts. We report this case due to the rarity of the condition. More studies are required to ascertain the role of trisomy 6 in the development of leukemia as well as in prognosis.
Highlights
Identification of cytogenetic abnormalities plays an important role in the diagnosis and prognosis of leukemias
It is difficult to determine the prognostic significance of trisomy 6 in acute myeloid leukemia (AML) because of the paucity of clinical publications [2]
We present a case of AML with karyotypic abnormality of trisomy 6
Summary
Identification of cytogenetic abnormalities plays an important role in the diagnosis and prognosis of leukemias. A 21-year-old female reported to the Department of Hematology, All India Institute of Medical Sciences, New Delhi, India, with complaints of generalized weakness and fatigue of 2 weeks in duration She was found to be pale and had received packed red cell transfusions during this period. Bone marrow on day 14 revealed persistence of blasts (34%) She was given a second induction with mitoxantrone and high-dose cytarabine (HAM). Bone marrow testing was repeated and she was found to be in remission She received 2 more cycles of high-dose cytarabine as postremission therapy.
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