| Monoclonality of multifocal epithelioid hemangioendothelioma of the liver by analysis of WWTR1-CAMTA1 breakpoints. | |
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MedLine Citation:
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PMID: 22429593 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Similar to other vascular tumors, epithelioid hemangioendothelioma (EHE) can have multifocal presentation in up to 50% of cases. However, whether multifocal EHE represents an unusual pattern of metastasis or multiple separate primary tumors remains to be elucidated. Our recent identification of a WWTR1-CAMTA1 fusion as the genetic hallmark of EHE irrespective of anatomic location was used to clarify this question by comparing the similarity of translocation breakpoints. In our previous study, we found variability of the fusion transcripts of the t(1;3)(p36;q25) translocation among different patients with EHE. Thus, we undertook a molecular analysis of six samples from two patients with multicentric hepatic EHE to test our hypothesis that the presence of identical breakpoints in WWTR1 and CAMTA1 support the monoclonal nature of multifocal EHE. Using reverse transcription-polymerase chain reaction (RT-PCR) and subsequent sequencing, we confirmed an identical WWTR1-CAMTA1 fusion transcript product from different nodules in each patient. Our results confirm that multifocal EHE are monoclonal and thus represent metastatic implants of the same neoplastic clone rather than a "field-effect" or synchronous occurrence of multiple neoplastic clones. |
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Authors:
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Costantino Errani; Yun Shao Sung; Lei Zhang; John H Healey; Cristina R Antonescu |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Cancer genetics Volume: 205 ISSN: 2210-7762 ISO Abbreviation: Cancer Genet Publication Date: 2012 Jan-Feb |
Date Detail:
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Created Date: 2012-03-20 Completed Date: 2012-05-07 Revised Date: 2013-04-01 |
Medline Journal Info:
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Nlm Unique ID: 101539150 Medline TA: Cancer Genet Country: United States |
Other Details:
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Languages: eng Pagination: 12-7 Citation Subset: IM |
Copyright Information:
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Copyright © 2012 Elsevier Inc. All rights reserved. |
Affiliation:
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Department of Surgery, Orthopaedic Surgery Service, Memorial Sloan-Kettering Cancer Center, New York, NY, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Base Sequence Calcium-Binding Proteins / analysis, genetics* Chromosome Breakpoints* Clonal Evolution / genetics*, physiology Clone Cells / metabolism, pathology Female Hemangioendothelioma, Epithelioid / genetics, pathology* Humans Intracellular Signaling Peptides and Proteins / analysis, genetics* Liver Neoplasms / genetics, pathology* Male Molecular Sequence Data Neoplasms, Multiple Primary / genetics, pathology* Reverse Transcriptase Polymerase Chain Reaction Sequence Analysis, DNA Trans-Activators / analysis, genetics* |
| Grant Support | |
ID/Acronym/Agency:
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P01 CA047179/CA/NCI NIH HHS; P01 CA047179-15A2/CA/NCI NIH HHS; P50 CA 140146-01/CA/NCI NIH HHS; P50 CA140146/CA/NCI NIH HHS; P50 CA140146-01A1/CA/NCI NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/CAMTA1 protein, human; 0/Calcium-Binding Proteins; 0/Intracellular Signaling Peptides and Proteins; 0/Trans-Activators; 0/WWTR1 protein, human |
| Comments/Corrections | |
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