PMID- 31827620
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220411
IS  - 1755-8166 (Print)
IS  - 1755-8166 (Electronic)
IS  - 1755-8166 (Linking)
VI  - 12
DP  - 2019
TI  - Jumping translocations of chromosome 1q occurring by a multi-stage process in an 
      acute myeloid leukemia progressed from myelodysplastic syndrome with a TET2 
      mutation.
PG  - 47
LID - 10.1186/s13039-019-0460-2 [doi]
LID - 47
AB  - BACKGROUND: Jumping translocations (JTs) are rare chromosome rearrangements 
      characterized by re-localization of one donor chromosome to multiple recipient 
      chromosomes. Here, we describe an acute myeloid leukemia (AML) that progressed 
      from myelodysplastic syndrome (MDS) in association with acquisition of 1q JTs. 
      The sequence of molecular and cytogenetic changes in our patient may provide a 
      mechanistic model for the generation of JTs in leukemia. CASE PRESENTATION: A 
      68-year-old man presented with pancytopenia. Bone marrow aspirate and biopsy 
      showed a hypercellular marrow with multilineage dysplasia, consistent with MDS, 
      with no increase in blasts. Karyotype and MDS fluorescence in situ hybridization 
      (FISH) panel were normal. Repeat bone marrow aspirate and biopsy after 8 cycles 
      of azacitidine, with persistent pancytopenia, showed no changes in morphology, 
      and karyotype was again normal. Myeloid mutation panel showed mutations in RUNX1, 
      SRSF2, ASXL1, and TET2. Three years after diagnosis, he developed AML with 
      myelodysplasia-related changes. Karyotype was abnormal, with unbalanced 1q JTs to 
      the short arms of acrocentric chromosomes 14 and 21, leading to gain of 1q. 
      CONCLUSIONS: Our patient had MDS with pathogenic mutations of the RUNX1, SRSF2, 
      ASXL1, and TET2 genes and developed 1q JTs at the time of progression from MDS to 
      AML. Our data suggest that the formation of 1q JTs involves multiple stages and 
      may provide a mechanistic model for the generation of JTs in leukemia.
CI  - (c) The Author(s). 2019.
FAU - Lee, Ina
AU  - Lee I
AD  - 1Department of Pathology, University of Maryland School of Medicine, Baltimore, 
      MD USA. ISNI: 0000 0001 2175 4264. GRID: grid.411024.2
FAU - Gudipati, Mary A
AU  - Gudipati MA
AD  - 1Department of Pathology, University of Maryland School of Medicine, Baltimore, 
      MD USA. ISNI: 0000 0001 2175 4264. GRID: grid.411024.2
FAU - Waters, Elizabeth
AU  - Waters E
AD  - 1Department of Pathology, University of Maryland School of Medicine, Baltimore, 
      MD USA. ISNI: 0000 0001 2175 4264. GRID: grid.411024.2
FAU - Duong, Vu H
AU  - Duong VH
AD  - 2Department of Medicine, University of Maryland School of Medicine, Baltimore, MD 
      USA. ISNI: 0000 0001 2175 4264. GRID: grid.411024.2
AD  - University of Maryland Marlene and Stewart Greenebaum Comprehensive Cancer 
      Center, Baltimore, MD USA.
FAU - Baer, Maria R
AU  - Baer MR
AD  - 2Department of Medicine, University of Maryland School of Medicine, Baltimore, MD 
      USA. ISNI: 0000 0001 2175 4264. GRID: grid.411024.2
AD  - University of Maryland Marlene and Stewart Greenebaum Comprehensive Cancer 
      Center, Baltimore, MD USA.
FAU - Zou, Ying
AU  - Zou Y
AUID- ORCID: 0000-0003-2787-1917
AD  - 1Department of Pathology, University of Maryland School of Medicine, Baltimore, 
      MD USA. ISNI: 0000 0001 2175 4264. GRID: grid.411024.2
AD  - University of Maryland Marlene and Stewart Greenebaum Comprehensive Cancer 
      Center, Baltimore, MD USA.
AD  - 4Department of Pathology, Johns Hopkins University, 1812 Ashland Ave., Suite 200, 
      Room 221, Baltimore, MD 21205 USA. ISNI: 0000 0001 2171 9311. GRID: grid.21107.35
LA  - eng
PT  - Case Reports
DEP - 20191119
PL  - England
TA  - Mol Cytogenet
JT  - Molecular cytogenetics
JID - 101317942
PMC - PMC6862801
OTO - NOTNLM
OT  - Acute myeloid leukemia
OT  - Jumping translocations
OT  - Myelodysplastic syndrome
OT  - TET2
COIS- Competing interestsThe authors declare that they have no competing interests.
EDAT- 2019/12/13 06:00
MHDA- 2019/12/13 06:01
PMCR- 2019/11/19
CRDT- 2019/12/13 06:00
PHST- 2019/10/15 00:00 [received]
PHST- 2019/11/01 00:00 [accepted]
PHST- 2019/12/13 06:00 [entrez]
PHST- 2019/12/13 06:00 [pubmed]
PHST- 2019/12/13 06:01 [medline]
PHST- 2019/11/19 00:00 [pmc-release]
AID - 460 [pii]
AID - 10.1186/s13039-019-0460-2 [doi]
PST - epublish
SO  - Mol Cytogenet. 2019 Nov 19;12:47. doi: 10.1186/s13039-019-0460-2. eCollection 
      2019.