Translocation t(7;19)(q22;q13)—a recurrent chromosome aberration in pseudomyogenic hemangioendothelioma?

Trombetta, Domenico; Magnusson, Linda; Steyern, Fredrik Vult von; Hornick, Jason L.; Fletcher, Christopher D.�M.; Mertens, Fredrik

doi:10.1016/j.cancergen.2011.01.002

Cited by 113 publications

(78 citation statements)

References 12 publications

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“…A subset of PMHs show a t (7;19) (q22;q13) translocation [5]. In a later study, a fusion gene SERPINE1-FOSB resulting from a translocation between chromosomes 7 and 19 was discovered using mRNA sequencing, RT-PCR and interphase FISH analysis [7].…”

Section: Immunohistochemical Featuresmentioning

confidence: 97%

“…In an independent study, Hornick and Fletcher [3] named the tumor as "Pseudomyogenic (fibroma-like) variant of epithelioid sarcoma" and later in a series of 50 cases, they recognized the tumors indolent behavior and vascular origin and renamed it as "Pseudomyogenic Hemangioendothelioma" (PMH) [4]. A recurrent translocation (7;19) (q22;q13) was identified in 2011 [5]. In 2013, the WHO classification of tumors of soft tissue and bone included the pseudomyogenic hemangioendothelioma as a new entity under the group of vascular tumors [6].…”

Section: Introductionmentioning

confidence: 99%

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Pseudomyogenic Hemangioendothelioma: A Vascular Tumor Previously Undescribed in the Oral Cavity

Rawal

Anderson

Dodson

2016

Head and Neck Pathol

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Section: Immunohistochemical Featuresmentioning

confidence: 97%

Section: Introductionmentioning

confidence: 99%

Pseudomyogenic Hemangioendothelioma: A Vascular Tumor Previously Undescribed in the Oral Cavity

Rawal

Anderson

Dodson

2016

Head and Neck Pathol

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“…It is clear that this process helps not only in facilitating better diagnosis but also has impact in terms of biologic understanding and rational classification schemes. Remarkably, it seems that this process will continue for the foreseeable future-even in the past 2 years additional 'new' entities have emerged, each of which is associated with specific molecular genetic aberrations-pseudomyogenic (epithelioid sarcoma- like) hemangioendothelioma, 52,53 round cell sarcomas with CIC-DUX4 fusion 54 and angiofibroma of soft tissue. 55,56 It is especially impressive to note that morphologic recognition of these lesions has typically preceded molecular genetic characterization-in other words, morphology remains remarkably reproducible and cost-effective.…”

Section: Resultsmentioning

confidence: 99%

Recently characterized soft tissue tumors that bring biologic insight

Fletcher

2014

Modern Pathology

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Previously unrecognized but clinicopathologically (and often molecularly) distinct types of soft tissue tumor continue to be characterized, allowing wider recognition, more consistent application of diagnostic criteria, more reliable prediction of tumor behavior and enhancement of existing classification schemes. Examples of such 'entities' that have become much better understood over the past decade or so include deep 'benign' fibrous histiocytoma, hemosiderotic fibrolipomatous tumor, PEComa, spindle cell liposarcoma, myoepithelial tumors of soft tissue and spindle cell/sclerosing rhabdomyosarcoma. These tumor types, as well as the insights which they have engendered, are briefly reviewed here.

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“…PHE consistently displays a SERPINE1-FOSB fusion gene, resulting from a translocation between chromosomes 7 and 19, presumably constituting the essential driver mutation in this neoplasm (Trombetta et al, 2011).…”

Section: Geneticsmentioning

confidence: 99%

Pseudomyogenic hemangioendothelioma: t(7;19)(q22;q13) SERPINE1/FOSB

Walther¹,

Mertens²

2017

Atlas of Genetics and Cytogenetics in Oncology and Haematology

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Pseudomyogenic hemangioendothelioma (PHE) is an intermediate malignant vascular tumor primarily affecting soft tissues in children and young adults. The molecular basis of this neoplasm is unknown. Chromosome banding analysis, fluorescence in situ hybridization (FISH), mRNA sequencing, RT-PCR, and quantitative real-time PCR have shown that PHEs are characterized by a balanced translocation t(7;19)(q22;q13), resulting in the fusion of the SERPINE1 and FOSB genes. The role of SERPINE1, which is highly expressed in vascular cells, in this gene fusion is probably to provide a strong promoter for FOSB. FOSB encodes a transcription factor belonging to the FOS family of proteins, which together with members of the JUN family of transcription factors are major components of the Activating Protein 1 (AP-1) complex. Keywords Pseudomyogenic hemangioendothelioma; SERPINE1; FOSB; translocation Clinics and pathologyNote Newly recognised entity. Rare. Exact incidence not known. EtiologyNot known. EpidemiologyOften young adults. Predominantly male (4.6:1) ClinicsTwo thirds of the lesions seen in limbs followed by trunk and head and neck. Size 0.3-5.5 cm. Often multifocal and ill circumscribed. Situated subcutanously but often in different tissue planes, including bone. Painful nodules in 50% of the cases. Locally aggressive and often recurring but rarely distant metastases. PathologySpindle cells in fascicles and sheets. Vesicular nuclei. Distinct eosinophilic cytoplasm. Cells often show a rhabdomyoblast-like appearance.

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Translocation t(7;19)(q22;q13)—a recurrent chromosome aberration in pseudomyogenic hemangioendothelioma?

Cited by 113 publications

References 12 publications

Pseudomyogenic Hemangioendothelioma: A Vascular Tumor Previously Undescribed in the Oral Cavity

Pseudomyogenic Hemangioendothelioma: A Vascular Tumor Previously Undescribed in the Oral Cavity

Recently characterized soft tissue tumors that bring biologic insight

Pseudomyogenic hemangioendothelioma: t(7;19)(q22;q13) SERPINE1/FOSB

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