PMID- 9598794
OWN - NLM
STAT- MEDLINE
DCOM- 19980721
LR  - 20191024
IS  - 1045-2257 (Print)
IS  - 1045-2257 (Linking)
VI  - 22
IP  - 2
DP  - 1998 Jun
TI  - FISH identifies inv(16)(p13q22) masked by translocations in three cases of acute 
      myeloid leukemia.
PG  - 87-94
AB  - The inv(16)(p13q22) masked by different translocations was detected by 
      fluorescence in situ hybridization (FISH) and confirmed by molecular analysis in 
      three adult patients presenting with acute myeloid leukemia (AML)-M2 (cases 1 and 
      3) and M4Eo (case 2). Cytogenetic analysis revealed 47,XX,t(9;16)(p23;p13),+22 
      (case 1); 46,XX,t(1;16)(p32;p13) (case 2); and 46,XY,?del(16)(q22) (case 3). 
      Using a panel of probes for chromosomes 1, 9, 16, and 20 as well as probes to 
      detect inv(16), i.e., two cosmid contigs hybridizing proximally and distally to 
      the 16p13 breakpoint, FISH demonstrated inv(16) involving the derivative 16 as 
      well as reciprocal translocations between 16q22-qter and 9p24 (case 1), 1p32 
      (case 2), and 20q13 (case 3). In addition, a small interstitial del(16)(p13p13) 
      proximal to the MYH11 breakpoint was detected in case 1. Reverse 
      transcriptase-polymerase chain reaction (RT-PCR) and Southern blot analysis 
      showed a CBFB-MYH11 fusion transcript and MYH11 rearrangement, respectively, in 
      all three cases. We conclude that: 1) inv(16) can be masked by other structural 
      abnormalities involving chromosome 16; 2) some of the so-called variant 
      translocations not explored at the molecular level may in fact represent a masked 
      inv(16); and 3) FISH, RT-PCR, and Southern blot analyses are reliable tools to 
      detect masked inv(16) and should be applied in all AML cases with structural 
      changes of chromosome 16.
FAU - Dierlamm, J
AU  - Dierlamm J
AD  - Center for Human Genetics, University of Leuven, Belgium.
FAU - Stul, M
AU  - Stul M
FAU - Vranckx, H
AU  - Vranckx H
FAU - Michaux, L
AU  - Michaux L
FAU - Weghuis, D E
AU  - Weghuis DE
FAU - Speleman, F
AU  - Speleman F
FAU - Selleslag, D
AU  - Selleslag D
FAU - Kramer, M H
AU  - Kramer MH
FAU - Noens, L A
AU  - Noens LA
FAU - Cassiman, J J
AU  - Cassiman JJ
FAU - Van den Berghe, H
AU  - Van den Berghe H
FAU - Hagemeijer, A
AU  - Hagemeijer A
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
PL  - United States
TA  - Genes Chromosomes Cancer
JT  - Genes, chromosomes & cancer
JID - 9007329
RN  - 0 (Oncogene Proteins, Fusion)
SB  - IM
MH  - Adult
MH  - Blotting, Southern
MH  - *Chromosome Inversion
MH  - Chromosomes, Human, Pair 1/genetics
MH  - Chromosomes, Human, Pair 16/*genetics
MH  - Chromosomes, Human, Pair 20/genetics
MH  - Chromosomes, Human, Pair 9/genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Karyotyping
MH  - Leukemia, Myeloid, Acute/diagnosis/*genetics
MH  - Leukemia, Myelomonocytic, Acute/diagnosis/genetics
MH  - Male
MH  - Middle Aged
MH  - Oncogene Proteins, Fusion/genetics
MH  - Polymerase Chain Reaction
MH  - Translocation, Genetic/*genetics
RF  - 23
EDAT- 1998/05/23 02:18
MHDA- 2000/06/20 09:00
CRDT- 1998/05/23 02:18
PHST- 1998/05/23 02:18 [pubmed]
PHST- 2000/06/20 09:00 [medline]
PHST- 1998/05/23 02:18 [entrez]
AID - 10.1002/(SICI)1098-2264(199806)22:2<87::AID-GCC1>3.0.CO;2-2 [pii]
AID - 10.1002/(sici)1098-2264(199806)22:2<87::aid-gcc1>3.0.co;2-2 [doi]
PST - ppublish
SO  - Genes Chromosomes Cancer. 1998 Jun;22(2):87-94. doi: 
      10.1002/(sici)1098-2264(199806)22:2<87::aid-gcc1>3.0.co;2-2.