Fluorescence in situ hybridization as a diagnostic tool in malignant lymphomas

1997 ◽  
Vol 108 (4-5) ◽  
pp. 391-402 ◽  
Author(s):  
R. Siebert ◽  
Klaus Weber-Matthiesen
Keyword(s):  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Diagnostic Tool ◽  
Malignant Lymphomas

Fluorescence In Situ Hybridization (FISH) Using a Subtelomeric 11q Probe as a New Diagnostic Tool for Congenital Thrombocytopenia Caused by Deletions in 11q.

Blood ◽  
2004 ◽  
Vol 104 (11) ◽  
pp. 3035-3035
Author(s):  
Dorothea Gadzicki ◽  
Gudrun Michaelsen ◽  
Cornelia Rudolph ◽  
Doris Steinemann ◽  
Christoph M. Happel ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Diagnostic Tool ◽  
Partial Trisomy ◽  
Comparative Genomic ◽  
Facial Dysmorphism ◽  
Chromosome 11 ◽  
Partial Monosomy ◽  
Structural Aberrations

Abstract Neonatal thrombocytopenia occurs in about 1% of all newborns. Inherited forms like 11q- or Jacobsen syndrome are rare. However, they may remain undetected with karyotyping because the deleted regions in 11q often involve small subtelomeric regions. Here we report on the detection of deletions in 11q in two newborns with normal routine karyotypes who were shown to carry subtelomeric deletions in 11q by means of fluorescence in situ hybridization (FISH) using a subtelomeric 11q probe (Abbott, Diagnostics, Wiesbaden, Germany). Both children showed thrombocytopenia (18.000/μl and 26.000/μl, respectively) and dysmegakaryopoiesis (absence of normal megakaryocytes and presence of micromegakaryocytes) associated with facial dysmorphism, cardiac defects and psychomotoric retardation. In the second case, the mother and the grandmother also showed mild thrombocytopenia. In both patients, FISH analyses on peripheral blood and bone marrow showed the loss of the telomere-associated region of 11q distal of the MLL gene. In the first patient, the deletion of 11q resulted from an unbalanced complex rearrangement with duplication of 11p. As the source of this chromosomal aberration, a paternal pericentric inversion of chromosome 11 was identified. The partial monosomy 11q and the partial trisomy 11p in the first patient were confirmed by comparative genomic hybridization (CGH) analysis. Array/matrix CGH assisted in determining the breakpoints at 11p15.1 and 11q24.1. No structural aberrations of 11q were found in the mother of the second patient, but further investigations are under way. These findings give further evidence that small subtelomeric deletions of 11q and probably mutations of genes located therein cause thrombocytopenia. Since it can be very difficult to detect these deletions by karyotyping, FISH using a subtelomeric 11q probe seems to be an extremely useful new diagnostic tool. This new method should be applied in children with congenital thrombocytopenia, in particular if they have additional complex dysmorphic features.

scholarly journals Fluorescence in situ hybridization is a useful ancillary diagnostic tool for extraskeletal myxoid chondrosarcoma

2008 ◽  
Vol 21 (11) ◽  
pp. 1303-1310 ◽  
Author(s):  
Wei-Lien Wang ◽  
Empar Mayordomo ◽  
Bogdan A Czerniak ◽  
Lynne V Abruzzo ◽  
Paola Dal Cin ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Diagnostic Tool ◽  
Extraskeletal Myxoid Chondrosarcoma ◽  
Myxoid Chondrosarcoma

FUS (16p11) Gene Rearrangement as Detected by Fluorescence In-Situ Hybridization in Cutaneous Low-Grade Fibromyxoid Sarcoma: A Potential Diagnostic Tool

2011 ◽  
Vol 33 (2) ◽  
pp. 140-143 ◽  
Author(s):  
Rajiv M Patel ◽  
Erinn Downs-Kelly ◽  
Monisha N Dandekar ◽  
Julie C Fanburg-Smith ◽  
Steven D Billings ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Diagnostic Tool ◽  
Gene Rearrangement ◽  
Low Grade ◽  
Fibromyxoid Sarcoma

Fluorescence in Situ Hybridization (FISH) Is a Reliable Diagnostic Tool for Detection of the 9; 22 Translocation

1996 ◽  
Vol 22 (3-4) ◽  
pp. 287-294 ◽  
Author(s):  
Martina Nolte ◽  
Martin Werner ◽  
Marc Ewig ◽  
Reinhard Von Wasielewski ◽  
Ludwig Wilkens ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Diagnostic Tool
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