PMID- 30790375
OWN - NLM
STAT- MEDLINE
DCOM- 20200109
LR  - 20200109
IS  - 1098-2264 (Electronic)
IS  - 1045-2257 (Linking)
VI  - 58
IP  - 9
DP  - 2019 Sep
TI  - A near-haploid clone harboring a BCR/ABL1 gene fusion in an adult patient with 
      newly diagnosed B-lymphoblastic leukemia.
PG  - 665-668
LID - 10.1002/gcc.22744 [doi]
AB  - The detection of recurrent genetic abnormalities in B-lymphoblastic leukemia 
      (B-ALL) is critical for risk stratification and therapy-related decisions. 
      Near-haploidy (24-30 chromosomes), a subgroup of hypodiploidy (<46 chromosomes), 
      and BCR/ABL1 gene fusions are both recurrent genetic abnormalities in B-ALL and 
      are considered adverse prognostic findings, although outcomes in 
      BCR/ABL1-positive patients have improved with tyrosine kinase inhibitor therapy. 
      While near-haploid clones are primarily observed in children and rarely harbor 
      structural abnormalities, BCR/ABL1-positive B-ALL is primarily observed in 
      adults. Importantly, recurrent genetic abnormalities are considered mutually 
      exclusive and rarely exist within the same neoplastic clone. We report only the 
      second case to our knowledge of a near-haploid clone that harbors a BCR/ABL1 
      fusion in an adult with newly diagnosed B-ALL. Conventional chromosome studies 
      revealed a near-haploid clone (27 chromosomes) along with a 
      der(22)t(9;22)(q34.1;q11.2) in 17 of 20 metaphases analyzed. Our B-ALL 
      fluorescence in situ hybridization (FISH) panel confirmed the BCR/ABL1 fusion and 
      monosomies consistent with chromosome studies in approximately 95% of interphase 
      nuclei. Moreover, no evidence of a "doubled" near-haploid clone was observed by 
      chromosome or FISH studies. This highly unusual case illustrates that while rare, 
      recurrent genetic abnormalities in B-ALL can exist within the same neoplastic 
      clone.
CI  - (c) 2019 Wiley Periodicals, Inc.
FAU - Peterson, Jess F
AU  - Peterson JF
AUID- ORCID: 0000-0003-2496-8000
AD  - Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine 
      and Pathology, Mayo Clinic, Rochester, Minnesota.
FAU - Ketterling, Rhett P
AU  - Ketterling RP
AD  - Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine 
      and Pathology, Mayo Clinic, Rochester, Minnesota.
AD  - Division of Hematopathology, Department of Laboratory Medicine and Pathology, 
      Mayo Clinic, Rochester, Minnesota.
FAU - Huang, Li
AU  - Huang L
AD  - Pathology and Laboratory Medicine William G. Helis Memorial Laboratories, Ochsner 
      Medical Center, New Orleans, Louisiana.
FAU - Finn, Laura E
AU  - Finn LE
AD  - Division of Hematology and Bone Marrow Transplant, Department of Internal 
      Medicine, Ochsner Medical Center, New Orleans, Louisiana.
FAU - Shi, Min
AU  - Shi M
AD  - Division of Hematopathology, Department of Laboratory Medicine and Pathology, 
      Mayo Clinic, Rochester, Minnesota.
FAU - Hoppman, Nicole L
AU  - Hoppman NL
AD  - Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine 
      and Pathology, Mayo Clinic, Rochester, Minnesota.
FAU - Greipp, Patricia T
AU  - Greipp PT
AD  - Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine 
      and Pathology, Mayo Clinic, Rochester, Minnesota.
FAU - Baughn, Linda B
AU  - Baughn LB
AD  - Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine 
      and Pathology, Mayo Clinic, Rochester, Minnesota.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20190318
PL  - United States
TA  - Genes Chromosomes Cancer
JT  - Genes, chromosomes & cancer
JID - 9007329
RN  - EC 2.7.10.2 (Fusion Proteins, bcr-abl)
SB  - IM
MH  - Age of Onset
MH  - Aged
MH  - Fusion Proteins, bcr-abl/*genetics
MH  - Haploidy
MH  - Humans
MH  - Male
MH  - Precursor B-Cell Lymphoblastic Leukemia-Lymphoma/*genetics
MH  - Precursor Cell Lymphoblastic Leukemia-Lymphoma/*genetics/pathology
OTO - NOTNLM
OT  - BCR/ABL1
OT  - B-lymphoblastic leukemia
OT  - conventional chromosome analysis
OT  - fluorescence in situ hybridization
OT  - fusion
OT  - hyperhaploidy
EDAT- 2019/02/23 06:00
MHDA- 2020/01/10 06:00
CRDT- 2019/02/22 06:00
PHST- 2018/12/31 00:00 [received]
PHST- 2019/02/18 00:00 [revised]
PHST- 2019/02/18 00:00 [accepted]
PHST- 2019/02/23 06:00 [pubmed]
PHST- 2020/01/10 06:00 [medline]
PHST- 2019/02/22 06:00 [entrez]
AID - 10.1002/gcc.22744 [doi]
PST - ppublish
SO  - Genes Chromosomes Cancer. 2019 Sep;58(9):665-668. doi: 10.1002/gcc.22744. Epub 
      2019 Mar 18.