Genetics
The cytogenetics of EHE gave some of the first clues of an underlying genetic alteration. A balanced, reciprocal translocation t(1;3)(p36.3;q25) in EHE tumor cells was first described by Mendlick et al. in 2001 (Mendlick MR, Nelson M, Pickering D, Johansson SL, Seemayer TA, Neff JR, Vergara G, Rosenthal H, Bridge JA (2001). "Translocation t(1;3)(p36.3;q25) is a nonrandom aberration in epithelioid hemangioendothelioma". Am. J. Surg. Pathol. 25 (5): 684–7. doi:10.1097/00000478-200105000-00019. PMID 11342784. {{cite journal}}:  CS1 maint: multiple names: authors list (link)). This led to the landmark paper by Tanas et al. in 2011(Tanas MR, Sboner A, Oliveira AM, Erickson-Johnson MR, Hespelt J, Hanwright PJ, Flanagan J, Luo Y, Fenwick K, Natrajan R, Mitsopoulos C, Zvelebil M, Hoch BL, Weiss SW, Debiec-Rychter M, Sciot R, West RB, Lazar AJ, Ashworth A, Reis-Filho JS, Lord CJ, Gerstein MB, Rubin MA, Rubin BP (2011). "Identification of a disease-defining gene fusion in epithelioid hemangioendothelioma". Sci Transl Med. 3 (98): 98ra82. doi:10.1126/scitranslmed.3002409. PMID 21885404. {{cite journal}}:  CS1 maint: multiple names: authors list (link)) describing the specific genes involved in the translocation associated with the most common forms of EHE. This alteration results in the fusion of genes coding for two transcription co-activators (transcriptional regulators): TAZ (transcriptional co-activator with PDZ-binding motif) also known as WWTR1 (WW domain-containing transcription regulator protein 1) and CAMTA1 (calmodulin-binding transcription activator 1). The names in parenthesis are not relevant to casual (or even science) readers but are included to help distinguish them from other genes.
Around 20 cases are diagnosed in America every year – the cause is unknown. It is unresponsive to any known strain of chemotherapy, making treatment very difficult. Society
There is a Facebook site set up for people with EHE. There is also a Registry for patients to enter their medical history. CRAVAT Center for Research and Analysis of VAscular Tumors is a website for the EHE community. The EHE Rare Cancer Foundation Australia was established in 2015 by Australians with Epithelioid Hemangioendothelioma (EHE). The core objective of the EHE Rare Cancer Foundation Australia is to proactively fundraise in order to support research into this rare cancer in the hope that a maintenance program or cure can be found.In 2003 photographer and actress Kris Carr was diagnosed with a stable and low grade version of eHAE. Carr has become a success as a Wellness Warrior advocating a vegan lifestyle as a way to avoid and stabilize disease. See also
List of cutaneous conditions
Skin lesion

References


== External links ==