Jumping translocation involving chromosome 13q in a patient with Crohn's Disease and inv(16)(p13.1q22)/CBFB-MYH11 acute myeloid leukemia


      Jumping translocations (JT) are rare chromosomal rearrangements caused by the translocation of one donor chromosome segment to two or more recipient chromosomes. In the setting of myeloid neoplasms, JT are typically associated with disease transformation to acute myeloid leukemia (AML), and studies to date have found JT to be associated with poor prognosis and short overall survival. However, JT have been only very rarely reported in AML associated with a favorable AML prognostic cytogenetic marker. Additionally, JT have infrequently been described in hematological malignancies associated with autoimmune diseases (AID) such as Crohn's Disease (CD). Here we describe a case of a 40-year-old female with a 24-year history of CD diagnosed with AML harbouring the inv(16)(p13.1q22)/CBFB-MYH11 rearrangement in conjunction with sideline clones containing trisomy 13, tetrasomy 13, and a JT of chromosome 13q12 jumping to 7q32 and 18p11.2. The patient attained molecular remission one month post diagnosis after induction 7 + 3 chemotherapy. Morphologic relapse of disease occurred 27 months post diagnosis. A second molecular remission was attained 3 months later after re-induction chemotherapy. The patient received a sibling bone marrow transplant 32 months post diagnosis and is currently in remission 7 months post allogeneic transplant. To the best of our knowledge, this case represents the first report of JT occurring in inv(16)(p13.1q22)/CBFB-MYH11 AML and the second of JT occurring in an AML patient with prior clinical history of CD. This case provides further insight into the rare occurrence of JT in AML, particularly AML with a favorable cytogenetic marker in conjunction with AID.


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