NDLI: Inconspicuous insertion 22;12 in myxoid/round cell liposarcoma accompanied by the secondary structural abnormality der(16)t(1;16).

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Inconspicuous insertion 22;12 in myxoid/round cell liposarcoma accompanied by the secondary structural abnormality der(16)t(1;16).

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Inconspicuous insertion 22;12 in myxoid/round cell liposarcoma accompanied by the secondary structural abnormality der(16)t(1;16).

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Birch, Nathan C. Antonescu, Cristina R. Nelson, Marilu Sarran, Lisa Neff, James R. Seemayer, Thomas Bridge, Julia A.
Description	Country affiliation: United States Author Affiliation: Birch NC ( Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha, Nebraska, USA.)
Abstract	In myxoid/round cell liposarcoma, the t(12;16)(q13;p11) and its associated fusion transcript, FUS-CHOP, characterize greater than 95% of cases. The variant translocation t(12;22)(q13;q12) and associated EWS-CHOP fusion transcript are rare. A second non-random aberration observed in roughly 20% of Ewing's sarcomas, and to a lesser extent other select sarcomas, is the unbalanced 1;16 translocation. Recognition of this secondary aberration in the absence of an obvious primary karyotypic abnormality strongly suggests that the use of other genetic approaches will be informative in uncovering a clinically suspected primary anomaly. The following case illustrates the utility of molecular cytogenetic and reverse transcriptase-polymerase chain reaction techniques in diagnosing an ins(22;12)(q12;q13q14) and associated EWS-CHOP fusion transcript in a myxoid/round cell liposarcoma exhibiting a der(16)t(1;16)(q11;q11).
File Format	HTM / HTML
ISSN	15251578
e-ISSN	19437811
Journal	The Journal of Molecular Diagnostics
Issue Number	3
Volume Number	5
Language	English
Publisher	Elsevier
Publisher Date	2003-08-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Discipline Molecular Biology Chromosomes, Human, Pair 12 Chromosomes, Human, Pair 16 Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 22 Liposarcoma, Myxoid Genetics Translocation, Genetic Ccaat-enhancer-binding Proteins Karyotyping Oncogene Proteins, Fusion Rna-binding Protein Ews Rna-binding Protein Fus Reverse Transcriptase Polymerase Chain Reaction Transcription Factor Chop Research Support, Non-u.s. Gov't Research Support, U.s. Gov't, P.h.s.
Content Type	Text
Resource Type	Case study Article
Subject	Molecular Medicine Pathology and Forensic Medicine

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