CAMTA1 is a useful immunohistochemical marker for diagnosing epithelioid haemangioendothelioma

The diagnosis of epithelioid haemangioendothelioma (EHE) is usually straightforward, based on characteristic histological features. However, it is sometimes difficult to differentiate EHE from a variety of other tumours with epithelioid morphology. The WW domain‐containing transcription regulator 1–calmodulin‐binding transcription activator 1 (WWTR1–CAMTA1) fusion gene, resulting in the overexpression of CAMTA1, is demonstrated in approximately 90% of EHEs, and the yes‐associated protein 1–transcription factor E3 (YAP1–TFE3) fusion gene, associated with the strong and diffuse nuclear expression of TFE3, is present in another small subset of EHEs. The aim of our study was to examine CAMTA1 expression in EHEs and a variety of other tumours to evaluate its diagnostic utility, and to analyse TFE3 expression status in EHEs.

[1]  V. Wiwanitkit.  CAMTA1 Immunostaining is not Useful in Differentiating Epithelioid Hemangioendothelioma from its Potential Mimickers / CAMTA1 İmmünekspresyonu Epitelioid Hemangioendotelyomun Taklitlerinden Ayrımında Kullanışlı Değildir , 2015, Turk patoloji dergisi.

[2]  C. Moran,et al.  Epithelioid Hemangioendothelioma of the Bone: A Review and Update , 2014, Advances in anatomic pathology.

[3]  J. V. van Gorp,et al.  Epithelioid Hemangioendothelioma: clinicopathologic, immunhistochemical, and molecular genetic analysis of 39 cases , 2014, Diagnostic Pathology.

[4]  K. Kösemehmetoğlu.  CAMTA 1 Immunostaining is not Useful in Differentiating Epithelioid Hemangioendothelioma from its Potential Mimickers CAMTA , 2014 .

[5]  M. Rubin,et al.  Novel YAP1‐TFE3 fusion defines a distinct subset of epithelioid hemangioendothelioma , 2013, Genes, chromosomes & cancer.

[6]  Chris D. Greenman,et al.  The Relative Timing of Mutations in a Breast Cancer Genome , 2013, PloS one.

[7]  A. Flanagan,et al.  Pseudomyogenic (epithelioid sarcoma-like) hemangioendothelioma: characterization of five cases , 2013, Skeletal Radiology.

[8]  C. Fletcher,et al.  WHO classification of tumours of soft tissue and bone , 2013 .

[9]  C. Antonescu,et al.  Monoclonality of multifocal epithelioid hemangioendothelioma of the liver by analysis of WWTR1-CAMTA1 breakpoints. , 2012, Cancer genetics.

[10]  M. Gerstein,et al.  Identification of a Disease-Defining Gene Fusion in Epithelioid Hemangioendothelioma , 2011, Science Translational Medicine.

[11]  C. Antonescu,et al.  A novel WWTR1‐CAMTA1 gene fusion is a consistent abnormality in epithelioid hemangioendothelioma of different anatomic sites , 2011, Genes, chromosomes & cancer.

[12]  W. Hong,et al.  The hippo pathway in biological control and cancer development , 2011, Journal of cellular physiology.

[13]  C. Fletcher,et al.  Pseudomyogenic Hemangioendothelioma: A Distinctive, Often Multicentric Tumor With Indolent Behavior , 2011, The American journal of surgical pathology.

[14]  M. Ladanyi,et al.  A Distinctive Subset of PEComas Harbors TFE3 Gene Fusions , 2010, The American journal of surgical pathology.

[15]  R. O'Donnell,et al.  Utility of immunohistochemistry for endothelial markers in distinguishing epithelioid hemangioendothelioma from carcinoma metastatic to bone. , 2009, Archives of pathology & laboratory medicine.

[16]  J. O'Connell,et al.  Epithelioid Hemangioma of Bone Revisited: A Study of 50 Cases , 2009, The American journal of surgical pathology.

[17]  T. Nakajima,et al.  Clear Cell Sarcoma of Soft Tissue: A Clinicopathologic, Immunohistochemical, and Molecular Analysis of 33 Cases , 2008, The American journal of surgical pathology.

[18]  Charles Lee,et al.  Recurrent genomic alterations with impact on survival in colorectal cancer identified by genome-wide array comparative genomic hybridization. , 2006, Gastroenterology.

[19]  Axel Benner,et al.  Reduced Expression of CAMTA1 Correlates with Adverse Outcome in Neuroblastoma Patients , 2006, Clinical Cancer Research.

[20]  Marc Ladanyi,et al.  Allelic losses at 1p36 and 19q13 in gliomas: correlation with histologic classification, definition of a 150-kb minimal deleted region on 1p36, and evaluation of CAMTA1 as a candidate tumor suppressor gene. , 2005, Clinical cancer research : an official journal of the American Association for Cancer Research.

[21]  M. Ladanyi,et al.  Aberrant Nuclear Immunoreactivity for TFE3 in Neoplasms With TFE3 Gene Fusions: A Sensitive and Specific Immunohistochemical Assay , 2003, The American journal of surgical pathology.

[22]  D. Bouchez,et al.  A Novel Family of Calmodulin-binding Transcription Activators in Multicellular Organisms* , 2002, The Journal of Biological Chemistry.

[23]  J. Goldblum,et al.  Enzinger and Weiss's Soft Tissue Tumors , 2001 .

[24]  H. Rosenthal,et al.  Translocation t(1;3)(p36.3;q25) Is a Nonrandom Aberration in Epithelioid Hemangioendothelioma , 2001, The American journal of surgical pathology.

[25]  L. Kindblom,et al.  Angiosarcoma of soft tissue: a study of 80 cases. , 1998, The American journal of surgical pathology.

[26]  C. Fletcher,et al.  Epithelioid hemangioendothelioma of skin and soft tissues: clinicopathologic and immunohistochemical study of 30 cases. , 1997, The American journal of surgical pathology.

[27]  K. Ishak,et al.  Epithelioid hemangioendothelioma and related lesions. , 1986, Seminars in diagnostic pathology.

[28]  S. Weiss,et al.  Epithelioid hemangioendothelioma a vascular tumor often mistaken for a carcinoma , 1982, Cancer.