PMID- 24079663
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20131115
LR  - 20240321
IS  - 1755-8166 (Print)
IS  - 1755-8166 (Electronic)
IS  - 1755-8166 (Linking)
VI  - 6
IP  - 1
DP  - 2013 Sep 30
TI  - A case of acute myeloid leukemia (AML) with an unreported combination of 
      chromosomal abnormalities: gain of isochromosome 5p, tetrasomy 8 and unbalanced 
      translocation der(19)t(17;19)(q23;p13).
PG  - 40
LID - 10.1186/1755-8166-6-40 [doi]
AB  - BACKGROUND: Acute myeloid leukemia (AML) comprises a spectrum of myeloid 
      malignancies which are often associated with distinct chromosomal abnormalities, 
      and the analysis of such abnormalities provides us with important information for 
      disease classification, treatment selection and prognosis. Some chromosomal 
      abnormalities albeit recurrent are rare such as tetrasomy 8 or isochromosome 5p. 
      In addition, erratic chromosomal rearrangements may occur in AML, sometimes 
      unbalanced and also accompanied by other abnormalities. Knowledge on the 
      contribution of rare abnormalities to AML disease, progression and prognosis is 
      limited.Here we report a unique case of acute monoblastic leukemia with gain of 
      i(5)(p10), tetrasomy 8, an unbalanced translocation der(19)t(17;19)(q23;p13.3) 
      and mutated NPM1. RESULTS: Bone marrow cells were examined by conventional 
      karyotyping, fluorescence in situ hybridization (FISH) and mutation analysis at 
      diagnosis and follow-up. At diagnosis we detected trisomy 8, an unbalanced 
      translocation der(19)t(17;19)(q23;p13.3) and mutated NPM1. During the course of 
      the disease we observed clonal evolution with gain of i(5)(p10), tetrasomy 8 and 
      eventually duplication of der(19)t(17;19)(q23;p13.3). By using the 
      der(19)t(17;19) as clonal marker, we found that i(5)(p10) and tetrasomy 8 were 
      secondary genetic events and that tetrasomy 8 had clonally evolved from trisomy 
      8. CONCLUSIONS: This case of acute monoblastic leukemia presents a combination of 
      rare chromosomal abnormalities including the unbalanced translocation 
      der(19)t(17;19)(q23;p13.3), hitherto un-reported in AML. In addition, our case 
      supports the hypothesis of a step-wise clonal evolution from trisomy 8 to 
      tetrasomy 8 in AML. Reporting and collecting data of rare chromosomal 
      abnormalities will add information to AML disease, progression and prognosis, and 
      may eventually translate to improved patient management.
FAU - Paar, Christian
AU  - Paar C
AD  - Institute of Laboratory Medicine, General Hospital Linz, Krankenhausstrasse 9, 
      A-4020, Linz, Austria. joerg.berg@akh.linz.at.
FAU - Herber, Gabriele
AU  - Herber G
FAU - Voskova, Daniela
AU  - Voskova D
FAU - Fridrik, Michael
AU  - Fridrik M
FAU - Stekel, Herbert
AU  - Stekel H
FAU - Berg, Jorg
AU  - Berg J
LA  - eng
PT  - Case Reports
DEP - 20130930
PL  - England
TA  - Mol Cytogenet
JT  - Molecular cytogenetics
JID - 101317942
PMC - PMC3852770
EDAT- 2013/10/02 06:00
MHDA- 2013/10/02 06:01
PMCR- 2013/09/30
CRDT- 2013/10/02 06:00
PHST- 2013/07/04 00:00 [received]
PHST- 2013/08/25 00:00 [accepted]
PHST- 2013/10/02 06:00 [entrez]
PHST- 2013/10/02 06:00 [pubmed]
PHST- 2013/10/02 06:01 [medline]
PHST- 2013/09/30 00:00 [pmc-release]
AID - 1755-8166-6-40 [pii]
AID - 10.1186/1755-8166-6-40 [doi]
PST - epublish
SO  - Mol Cytogenet. 2013 Sep 30;6(1):40. doi: 10.1186/1755-8166-6-40.