Translocation t(1;3)(p36.3;q25) Is a Nonrandom Aberration in Epithelioid Hemangioendothelioma

Abstract

The cytogenetic findings for two epithelioid hemangioendotheliomas are reported. An identical chromosomal translocation involving chromosomes 1 and 3 [t(1;3)(p36.3;q25)] was detected in both cases of epithelioid hemangioendothelioma, possibly representing a characteristic rearrangement for this histopathologic entity. The presence of clonal karyotypic abnormalities supports a neoplastic origin for the epithelioid variant of hemangioendothelioma. Identification of the 1;3 translocation may be useful diagnostically. Should additional studies confirm these data, this could lead to the identification of the gene(s) central to this neoplastic process.

Vascular lesions of bone in children, adolescents, and young adults. A clinicopathologic reappraisal and application of the ISSVA classification

“…A t(1;3)(p36.3; q25) translocation has been reported in two epithelioid hemangioendotheliomas [42]. Overexpression of TP53, murine double minute protein, and vascular endothelial growth factor and decrease of caveolin 1 have been observed in one patient with a progressive tumor [43].…”

Malignant vascular tumors—an update

“…7 Ten years later, two back-toback studies, using different methodologies, were able to clone the genes involved in the t(1;3)(p36.3;q25) translocation. 8,9 WWTR1 (also called TAZ), on 3q25, is a gene involved in 14-3-3 transcriptional factor activation and signaling in the hippo pathway that is normally highly expressed in endothelial cells.…”

Hepatic epithelioid hemangioendothelioma: Pitfalls in the diagnosis on fine needle cytology and “small biopsy” and review of the literature

“…Oral contraceptive, polyvinylchloride, and thorotrast suspension are identified as risk factors for subsequent disease development [8]. The t(1;3)(p36.3;q25) translocation, as non-random aberration, has been reported [9], as well as the WWTR1-CAMTA 1 gene fusion [10]. Surgical resection or liver transplantation is recommended for the treatment of HEHE [11]; adjuvant therapies in unresectable cases or non-transplant candidates are offered, although it seems to be resistant to chemotherapy [12].…”