2. Non-random distribution of copy number variants in hematologic neoplasms with chromothripsis

The theory of cancerogenesis as a progressive multi-step accumulation of somatic genetic alterations has changed with the discovery of chromothripsis, a single catastrophic event of chromosome shattering, which results in a big number of CNVs. Chromothripsis has been reported in a wide range of cancers in association with an adverse prognosis, gaining reputation of a high-risk marker. We performed SNP-array analysis (Affymetrix ®) on series of newly diagnosed or relapsed neoplasms of myeloid [40 cases of AML and 3 cases of MDS] and lymphoid [13 cases of Mantle Cell Lymphoma (MCL)] origin and selected cases with chromothripsis [11 AML/MDS cases and 7 MCL] for further evaluation.

Source: Cancer Genetics and Cytogenetics - March 31, 2019 Category: Genetics & Stem Cells Authors: Madina Sukhanova, Juehua Gao, Yi-Hua Chen, Girish Venkataraman, Yanming Zhang, Xinyan Lu, Lawrence Jennings, Amir Behdad Source Type: research