Chronic myelomonocytic leukemia with t(12;15) involving dup(1) identified by cytogenetic and molecular cytogenetic approach: A novel favorable-risk translocation

Author(s): Pina Trivedi*, Dharmesh Patel Phd, Darshita Patel Msc, Mahnaz Kazi Msc, Priya Varma, Dhara Ladani Msc, Nehal Patel Msc and Prabhudas Patel Phd

According to guideline of WHO classification system of Myeloid malignancies, Chronic Myelomonocytic Leukemia (CMML) is observed as the most frequent entity among myeloproliferative/ myelodysplastic syndromes. The blast cells observed in the peripheral and marrow was considered as the major prognostic factor identified at that time. Cytogenetic prognostications are not much clear. We studied a patientwith CMML with a successful conventional cytogenetic analysis at diagnosis. Combined results of Fluorescence In Situ Hybridization and Multi Color banding technique revealed a new variant and novel t(12;15) along with duplication of chromosome 1 in CMML. The patient showed BCR-ABL negative in FISH assay result and positive for JAK2 mutation study. Patient achieved remission without any treatment. This is potentially suggestive of a novel favorable-risk translocation in CMML.

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