Abstract

A Case Report on Pediatric Relapsed Acute Lymphoblastic Leukemia Patient with a novel t (1;7) (q32; p22) translocation

Author(s):Manoj Kumar, Mohit Chowdhry, Raj Nath Makroo, Deepika Rani and Pankaj Sharma

Background: Acute lymphoblastic leukemia (ALL) of the B-cell lineage (B-ALL) is a malignant neoplasm characterized by clonal proliferation, decreased apoptosis and accumulation of immature lymphoid progenitor cells in the bone marrow and in peripheral blood. It is often associated with genetic aberrations that may be correlated with disease outcomes. Relapse cases of B-ALL have a poor prognosis and accumulate additional genetic alterations. Case Report: A 9-year old male presented with relapsed B-ALL and succumbed to the disease despite aggressive treatment, 18 days after reporting to the hospital. Conventional cytogenetic analysis revealed a complex karyotype of 45 XY, t(1,7) (q32:p22),+der (2), add (4q33), del (6q21),-12,-12 including a novel translocation t(1;7) (q32;p22) observed in all the 26 metaphases analyzed. Discussion: This is the first report of a translocation between chromosomes 1 and 7 in B-ALL, and may represent an ancestral clone of B-ALL. The region involved in our reported translocation, in this case, seems to have an impact on B-cell development and proliferation, disease initiation and poor prognosis. Conclusion: We report a translocation involving chromosomes 1 and 7; which has not been reported earlier for B-ALL in hematologic malignancy. Its association with poor prognosis needs to be confirmed by examining the matched samples from more such cases.

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