PMID- 15269306
OWN - NLM
STAT- MEDLINE
DCOM- 20050125
LR  - 20181113
IS  - 1525-1578 (Print)
IS  - 1525-1578 (Linking)
VI  - 6
IP  - 3
DP  - 2004 Aug
TI  - Fluorescence in situ hybridization identifies cryptic t(16;16)(p13;q22) masked by 
      del(16)(q22) in a case of AML-M4 Eo.
PG  - 271-4
AB  - We report a patient presenting with acute myeloid leukemia (AML)-M4 Eo, in whom 
      conventional cytogenetic analysis revealed a 46, XY, del(16)(q22) karyotype. 
      Molecular analysis of the bone marrow cells using reverse transcriptase 
      polymerase chain reaction (RT-PCR) identified a CBFbeta-MYH11, "type A" fusion 
      transcript. However, despite a thorough reevaluation, a balanced chromosome 16 
      abnormality could not be definitively identified by cytogenetics. Since there 
      exists a small possibility of obtaining a false-positive PCR result, fluorescence 
      in situ hybridization (FISH) analysis using dual-color, break-apart probes for 
      CBFbeta was performed to elucidate the mechanism of fusion gene formation and 
      thus confirm the RT-PCR results. FISH analysis clearly revealed a cryptic 
      t(16;16), which was probably masked by the del(16)(q22). FISH is the preferred 
      diagnostic procedure to elucidate the CBFbeta-MYH11 fusion in this situation, and 
      resolves the possibility of both false-positive and false-negative results with 
      RT-PCR technique. Due to the improved prognosis of AML associated with the 
      CBFbeta-MYH11 fusion compared to AML generally, we recommend the use of FISH for 
      detection of inv(16)/t(16;16)/CBFbeta-MYH11 in patients with failed, complex, or 
      apparently normal cytogenetics, and in whom the cell morphology indicates the 
      strong possibility of this gene fusion.
FAU - Merchant, Shakil H
AU  - Merchant SH
AD  - University of New Mexico Health Sciences Center, Department of Pathology, BRF 
      Room 337C, 915 Camino de Salud, NE, Albuquerque, NM 87131. 
      dviswanatha@salud.unm.edu
FAU - Haines, Skip
AU  - Haines S
FAU - Hall, Bryan
AU  - Hall B
FAU - Hozier, John
AU  - Hozier J
FAU - Viswanatha, David S
AU  - Viswanatha DS
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - J Mol Diagn
JT  - The Journal of molecular diagnostics : JMD
JID - 100893612
RN  - 0 (CBFbeta-MYH11 fusion protein)
RN  - 0 (Oncogene Proteins, Fusion)
SB  - IM
MH  - Chromosome Deletion
MH  - Chromosomes, Human, Pair 16/*genetics
MH  - Chromosomes, Human, Pair 22/*genetics
MH  - Eosinophils/pathology
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Leukemia, Myeloid, Acute/*diagnosis/genetics/pathology
MH  - Male
MH  - Middle Aged
MH  - Oncogene Proteins, Fusion/*genetics
MH  - *Translocation, Genetic
PMC - PMC1867642
EDAT- 2004/07/23 05:00
MHDA- 2005/01/26 09:00
PMCR- 2005/08/01
CRDT- 2004/07/23 05:00
PHST- 2004/07/23 05:00 [pubmed]
PHST- 2005/01/26 09:00 [medline]
PHST- 2004/07/23 05:00 [entrez]
PHST- 2005/08/01 00:00 [pmc-release]
AID - S1525-1578(10)60521-1 [pii]
AID - 1163924 [pii]
AID - 10.1016/S1525-1578(10)60521-1 [doi]
PST - ppublish
SO  - J Mol Diagn. 2004 Aug;6(3):271-4. doi: 10.1016/S1525-1578(10)60521-1.