Monoclonality of multifocal epithelioid hemangioendothelioma of the liver by analysis of WWTR1-CAMTA1 breakpoints Journal Article
| Authors: | Errani, C.; Sung, Y. S.; Zhang, L.; Healey, J. H.; Antonescu, C. R. |
| Article Title: | Monoclonality of multifocal epithelioid hemangioendothelioma of the liver by analysis of WWTR1-CAMTA1 breakpoints |
| Abstract: | 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. © 2012 Elsevier Inc. |
| Keywords: | adult; controlled study; human tissue; gene sequence; gene translocation; sequence analysis; cancer localization; liver neoplasms; metastasis; reverse transcription polymerase chain reaction; molecular cloning; genome analysis; transcription regulation; molecular sequence data; reverse transcriptase polymerase chain reaction; intracellular signaling peptides and proteins; gene identification; liver tumor; gene fusion; vascular tumor; chromosome breakage; base sequence; calcium-binding proteins; trans-activators; tumor gene; multiple cancer; neoplasms, multiple primary; clone cells; molecular model; sequence analysis, dna; hemangioendothelioma; hemangioendothelioma, epithelioid; chromosome breakpoints; clonal evolution; epithelioid hemangioendothelioma; wwtr1-camta1; multifocality; monoclonality; camta1 gene; wwtr1 gene |
| Journal Title: | Cancer Genetics |
| Volume: | 205 |
| Issue: | 1-2 |
| ISSN: | 2210-7762 |
| Publisher: | Elsevier Inc. |
| Date Published: | 2012-01-01 |
| Start Page: | 12 |
| End Page: | 17 |
| Language: | English |
| DOI: | 10.1016/j.cancergen.2011.10.008 |
| PROVIDER: | scopus |
| PMCID: | PMC3361903 |
| PUBMED: | 22429593 |
| DOI/URL: | |
| Notes: | --- - "Export Date: 4 June 2012" - "Source: Scopus" |
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