The B-HLH protein encoding the M-twist gene is located by in situ hybridization on murine Chromosome 12

1993 ◽  
Vol 4 (2) ◽  
pp. 127-128 ◽  
Author(s):  
Marie-Genevi�ve Mattei ◽  
Corinne Stoetzel ◽  
Fabienne Perrin-Schmitt
Blood ◽  
1992 ◽  
Vol 79 (7) ◽  
pp. 1796-1801 ◽  
Author(s):  
J Anastasi ◽  
MM Le Beau ◽  
JW Vardiman ◽  
AA Fernald ◽  
RA Larson ◽  
...  

Abstract Trisomy 12 is the most common cytogenetic abnormality in chronic lymphocytic leukemia (CLL), and a number of studies have suggested that it may be an adverse prognostic indicator. We have evaluated the usefulness of fluorescence in situ hybridization with a chromosome 12- specific probe as a simple means for detecting trisomy 12 in interphase cells. Forty cases of B-cell CLL previously studied with conventional cytogenetic techniques were analyzed with a biotinylated probe to the centromeric region of chromosome 12. Thirty of these retrospective cases could be reevaluated with in situ hybridization. Our analysis showed three hybridization signals (ie, trisomy 12) in interphase cells from seven of seven cases found previously to have trisomy 12. Trisomy 12 was also detected in five additional cases: in one case thought to have a normal karyotype, in two cases that had been inadequate for routine cytogenetic analysis, and in two cases that had been found to have an abnormal karyotype without trisomy 12. In a prospective series of 20 newly accrued CLL cases, all cases were analyzed successfully by in situ hybridization and six (30%) showed trisomy 12. We were able to perform the analysis on routinely prepared and previously Wright- stained peripheral blood smears. We conclude that fluorescence in situ hybridization is a simple means for the detection of trisomy 12 in CLL. The technique is more sensitive than conventional cytogenetic analysis and would be a useful tool in clinical studies.


Blood ◽  
2005 ◽  
Vol 106 (11) ◽  
pp. 4992-4992
Author(s):  
Wei Xu ◽  
Jianyong Li ◽  
Jinlan Pan ◽  
Li Li ◽  
Hairong Qiu ◽  
...  

Abstract The most frequent chromosomal abnormalities in B-cell chronic lymphocytic leukaemia (B-CLL) are deletions on 13q14 and 17p13, trisomy 12 and 14q32 rearrangement. Conventional metaphase cytogenetic analysis underestimates the frequency of specific chromosome aberrations in B-CLL due to the low rate of spontaneous mitoses and poor response to mitogen stimulation. The aim of this study was to investigate the incidence of chromosomal changes in bone marrow or peripheral blood cells (or both) of B-CLL patients using a molecular cytogenetic method, interphase fluorescence in situ hybridization (I-FISH). Probes for 13q14 (D13S319), 17p13 (P53 gene), the centromere of chromosome 12 (D12Z3) and 14q32 (Ig10 and Y6) were applied to detect chromosomal aberrations on bone marrow and peripheral blood smears from 83 B-CLL patients (60 male, 23 female,). Molecular cytogenetic aberrations were found in 60 (72.3%) cases, and 8 (9.6%) patients showed two kinds of abnormalities. The most frequent abnormalities detected in our patients was deletions of 13q14 in 34 cases (41.0%), followed by trisomy of chromosome 12 in 16 patients (19.3%), deletions of 17p13 in 10 patients (12%) and 14q32 rearrangement in 8 patients (9.6%). Statistical analyses were performed to correlate the molecular cytogenetic findings with Binet stages. No apparent differences in distribution were noted for anomalies del(13q14), del(17p13), +12 or 14q32 rearrangement among patients with various Binet stages. FISH was found to be a more rapid, exact and sensitive technique for the analysis of chromosome aberrations in CLL. FISH could provide accurate information of molecular cytogenetics for CLL.


1991 ◽  
Vol 56 (1) ◽  
pp. 95
Author(s):  
R.F. Suijkerbuijk ◽  
R. Sinke ◽  
L.H.J. Looijenga ◽  
B. de Jong ◽  
J.W. Oosterhuis ◽  
...  

1992 ◽  
Vol 60 (3-4) ◽  
pp. 241-244 ◽  
Author(s):  
T. Issa ◽  
R. Porter ◽  
E.M. Parry ◽  
J.M. Parry

1985 ◽  
Vol 39 (3) ◽  
pp. 220-223 ◽  
Author(s):  
J. Gellin ◽  
G. Echard ◽  
M. Yerle ◽  
M. Dalens ◽  
C. Chevalet ◽  
...  

1992 ◽  
Vol 5 (1) ◽  
pp. 21-29 ◽  
Author(s):  
Eduardo Rodriguez ◽  
Susan Mathew ◽  
Asit B. Mukherjee ◽  
Victor E. Reuter ◽  
George J. Bosl ◽  
...  

2016 ◽  
Vol 140 (10) ◽  
pp. 1111-1115 ◽  
Author(s):  
Gloria Zhang ◽  
Christopher P. Lanigan ◽  
John R. Goldblum ◽  
Raymond R. Tubbs ◽  
Erinn Downs-Kelly

Context.—Atypical lipomatous tumors/well-differentiated liposarcomas contain alterations in the 12q13-15 region resulting in amplification of MDM2 and nearby genes. Identifying MDM2 amplification is a useful ancillary test, as the histologic mimics of atypical lipomatous tumors/well-differentiated liposarcomas have consistently shown a lack of MDM2 amplification. Objective.—To assess the interobserver reproducibility of a bright-field assay for MDM2 amplification (dual-color, dual-hapten in situ hybridization [DDISH]) among reviewers with varying degrees of experience with the assay and to assess the concordance of MDM2 DDISH with MDM2 fluorescence in situ hybridization (FISH). Design.—In total, 102 cases were assessed in parallel for MDM2 by FISH and DDISH. MDM2 amplification was defined as an MDM2 to chromosome 12 ratio of 2.0 or greater, whereas an MDM2 to chromosome 12 ratio of less than 2 was nonamplified. Fluorescence in situ hybridization was scored in the routine clinical laboratory and DDISH was evaluated by 3 different pathologists blinded to the final diagnosis and FISH results. Results.—Fluorescence in situ hybridization categorized 27 cases (26%) as MDM2 amplified and 75 cases (74%) as nonamplified; the consensus DDISH diagnosis was 98% concordant with FISH. Agreement between MDM2 DDISH by each reviewer and MDM2 FISH was highly concordant (99%, 98%, and 98%, respectively, for reviewers 1, 2 and 3). The κ agreement of the 3 reviewers scoring DDISH was excellent (κ = 0.949, 0.95, and 0.95, respectively, for reviewers 1, 2, and 3). Conclusions.—This study highlights excellent concordance between DDISH and FISH in MDM2 copy number assessment. Moreover, excellent interobserver reproducibility of the DDISH assay was found among reviewers with varying levels of experience evaluating bright-field assays.


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