Journal ArticleDOI
Histopathological, immunohistochemical and molecular spectrum of myoepithelial tumours of soft tissues
TLDR
EMA and S-100P are optimal markers that should be supplemented with broad spectrum keratins, such as AE1/AE3, along with p63, GFAP and calponin in case of need but the results must be correlated with morphological features.Abstract:
Primary soft tissue myoepithelial tumours (METs) are rare. Recent studies have shown EWSR1 rearrangement in certain METs. We present clinicopathological, immunohistochemical and molecular features of 14 primary soft tissue METs. Fourteen tumours, five benign and nine malignant, occurred in 12 men and two women, with an age range of 18–60 years (mean, 39.2); in upper extremities, four (29 %); chest wall, three (21 %); paraspinal region, three (21 %); pelvis, two (14 %) and lower extremities, two (14 %). Tumour size varied from 2 to 21.6 cm (mean, 8.7). Microscopically, most tumours were at least focally circumscribed. Morphological heterogeneity was noted, commonest patterns being cord-like and diffuse arrangement of polygonal cells in a myxoid stroma. By immunohistochemistry, tumours were positive for epithelial membrane antigen (EMA) (10/12, 83 %), cytokeratin (CK)/MNF116 (3/12, 25 %), p63 (7/10, 70 %), CD10 (4/6, 67 %), calponin (6/6, 100 %), S-100P (11/13, 85 %), glial fibrillary acidic protein (GFAP) (6/12, 50 %), smooth muscle actin (SMA) (3/9, 33 %), INI1/SMARCB1 (6/10, 60 %), brachyury (0/11), CD34 (0/5) and vimentin (4/4, 100 %), implying 93 % positivity for at least one epithelial marker. EWSR1 gene rearrangement was detected in 3/6 (50 %) METs (one benign and two malignant) and in an eccrine porocarcinoma which was included for reasons of comparison. Outcome details were available for six patients all surgically treated; three tumours (two malignant and one benign) resected with unknown marginal status recurred; two patients died and a single patient with myoepithelial carcinoma, who underwent a wide excision, is disease-free. This study illustrates the wide morphological spectrum of soft tissue METs, including benign and malignant subtypes. EMA and S-100P are optimal markers that should be supplemented with broad spectrum keratins, such as AE1/AE3, along with p63, GFAP and calponin in case of need but the results must be correlated with morphological features. Brachyury is useful in separating parachordoma/myoepithelioma from chordoma. EWSR1 rearrangement mostly occurs in METs that are deep-seated, irrespective of benign or malignant behaviour. Most malignant METs are INI1 negative.read more
Citations
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Journal ArticleDOI
Synovial sarcoma: defining features and diagnostic evolution
Khin Thway,Cyril Fisher +1 more
TL;DR: Correct diagnosis of Synovial sarcoma is clinically important, due to the relative chemosensitivity of SS in relation to other sarcomas, for prognostication and because of the potential for treatment with specific targeted therapies in the near future.
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Epithelioid Sarcoma: Diagnostic Features and Genetics.
TL;DR: Both classic and proximal-type ESs are associated with the loss of SMARCB1/INI1 protein expression, but appear otherwise molecularly relatively heterogeneous.
Journal ArticleDOI
Novel FUS-KLF17 and EWSR1-KLF17 fusions in myoepithelial tumors.
Shih-Chiang Huang,Shih-Chiang Huang,Hsiao-Wei Chen,Lei Zhang,Yun-Shao Sung,Narasimhan P. Agaram,Mary Davis,Morris Edelman,Christopher D.M. Fletcher,Cristina R. Antonescu +9 more
TL;DR: A small subset of ME tumors harbor FUS rearrangements, two thirds of them being associated with KLF17 fusion, which is also a rare gene fusion partner to EWSR1‐rearranged ME tumors.
Journal ArticleDOI
Mesenchymal Tumors with EWSR1 Gene Rearrangements.
Khin Thway,Cyril Fisher +1 more
TL;DR: Among the various genes that can be rearranged in soft tissue neoplasms associated with nonrandom chromosomal translocations, EWSR1 is the most frequent one to partner with other genes to generate recurrent fusion genes, leading to a spectrum of clinically and pathologically diverse mesenchymal and nonmesenchyal neoplasm.
Journal ArticleDOI
Ossifying fibromyxoid tumor: morphology, genetics, and differential diagnosis.
TL;DR: It is now established that OFMTs represent translocation-associated tumors, with up to 85% associated with recurrent gene rearrangements, mostly involving the PHF1 gene (including in typical, atypical, and malignant neoplasms), with EP400-PHF1 in approximately 40% of tumors, and ZC3H7B-BCOR, MEAF6-PHf1, and EPC1-PH F1 fusions also described.
References
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Paul Kleihues,Leslie H. Sobin +1 more
TL;DR: World Health Organization Collaborating Center for International Histological Classification of Tu-mors, Armed Forces Institute of Pathology, Wash-ington, DC.
Journal ArticleDOI
Loss of INI1 Expression is Characteristic of Both Conventional and Proximal-type Epithelioid Sarcoma
TL;DR: In conclusion, similar to MRT of infancy, loss of INI1 expression is characteristic of both conventional and proximal-type ES, being detected in >90% of cases.
Journal ArticleDOI
Myoepithelial tumors of soft tissue: a clinicopathologic and immunohistochemical study of 101 cases with evaluation of prognostic parameters.
TL;DR: Although the majority of morphologically benign or low-grade myoepithelial neoplasms of soft tissue behave in a benign fashion, there is an approximate 20% risk for local recurrence.
Journal ArticleDOI
EWSR1‐POU5F1 fusion in soft tissue myoepithelial tumors. A molecular analysis of sixty‐six cases, including soft tissue, bone, and visceral lesions, showing common involvement of the EWSR1 gene
Cristina R. Antonescu,Lei Zhang,Ning En Chang,Bruce R. Pawel,William D. Travis,Nora Katabi,Morris Edelman,Andrew E. Rosenberg,G. Petur Nielsen,Paola Dal Cin,Christopher D.M. Fletcher +10 more
TL;DR: It is found that a subset of soft tissue ME tumors with clear cell morphology harbor an EWSR1‐POU5F1 fusion, which can be used as a molecular diagnostic test in difficult cases, and these findings do not support a pathogenetic relationship between soft tissue Me tumors and their salivary gland counterparts.
Journal ArticleDOI
INI1-deficient tumors: diagnostic features and molecular genetics
TL;DR: The clinicopathologic features of these tumor types are reviewed and the clinical utility of INI1 immunohistochemistry in differential diagnosis is emphasized, especially in relation to rhabdoid cytomorphology.