| Epithelioid sarcoma is associated with a high percentage of SMARCB1 deletions. | |
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MedLine Citation:
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PMID: 23060122 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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SMARCB1 gene alterations were first described in highly malignant rhabdoid tumors of the kidney, brain (atypical teratoid/rhabdoid tumor) and soft tissue. An increasing number of tumors have now shown loss of SMARCB1 protein expression by immunohistochemistry, including the majority of epithelioid sarcomas. However, investigations of SMARCB1 gene alterations in epithelioid sarcoma have produced conflicting results. The aim of this study was to evaluate SMARCB1 status using Sanger sequencing of the coding region and multiplex ligation-dependent probe amplification, a rapid and sensitive method for detecting intragenic deletions and duplications, which has not been used in previous studies. Twenty-one epithelioid sarcomas of both classical and proximal type were selected for SMARCB1 gene testing and SMARCB1 immunohistochemistry. Nineteen of 21 (90%) epithelioid sarcomas were SMARCB1 negative by immunohistochemistry. Twelve of the 19 (63%) had adequate DNA recovery for evaluation. Ten of 12 (83%) tumors showed homozygous deletions of the gene. Two cases showed heterozygous deletions and polymorphisms, but no sequence mutations. These results confirm the high frequency of SMARCB1 deletions in epithelioid sarcoma and show that multiplex ligation-dependent probe amplification is a reliable method for detection of deletions in these cases, which can be performed on formalin-fixed, paraffin-embedded tissue. Given the high percentage of SMARCB1 alterations in epithelioid sarcoma, these findings argue against using SMARCB1 gene deletion as a tool in distinguishing them from malignant rhabdoid tumors.Modern Pathology advance online publication, 12 October 2012; doi:10.1038/modpathol.2012.175. |
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Authors:
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Lisa M Sullivan; Andrew L Folpe; Bruce R Pawel; Alexander R Judkins; Jaclyn A Biegel |
Publication Detail:
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Type: JOURNAL ARTICLE Date: 2012-10-12 |
Journal Detail:
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Title: Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc Volume: - ISSN: 1530-0285 ISO Abbreviation: Mod. Pathol. Publication Date: 2012 Oct |
Date Detail:
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Created Date: 2012-10-12 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8806605 Medline TA: Mod Pathol Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA, USA. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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