Abstract
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.
Keywords
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Article Info
Publication History
Published online: May 18, 2022
Accepted:
May 16,
2022
Received in revised form:
March 25,
2022
Received:
October 22,
2021
Identification
Copyright
Crown Copyright © 2022 Published by Elsevier Inc. All rights reserved.
