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01-03-2017

TFE3-Expressing Perivascular Epithelioid Cell Neoplasm (PEComa) of the Sella Turcica

Authors: Martin D. Hyrcza, Daniel A. Winer, Mary Shago, Karolyn Au, Gelareh Zadeh, Sylvia L. Asa, Ozgur Mete

Published in: Endocrine Pathology | Issue 1/2017

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Abstract

We report a primary central nervous system (CNS) perivascular epithelioid cell tumor (PEComa) in a middle-aged female patient. The tumor occurred in suprasellar location with secondary extension into the sella turcica. The patient presented with intracranial hemorrhage and an altered level of consciousness. The tumor had morphologic features matching those of other previously described TFE3-translocated PEComas, including epithelioid morphology, diffuse and strong nuclear immunoreactivity for TFE3, and minimal staining with myoid markers. The TFE3 break-apart FISH testing showed a slight splitting of one of the TFE3 signals in 49.5 % of nuclei. This case illustrates that PEComas should be added to the growing list of mesenchymal tumors that can be encountered in the CNS and specifically in the vicinity of the pituitary gland. The recognition of this entity is of significance given their underlying pathogenesis and possible management implications.
Literature
1.
go back to reference Folpe A, Mentzel T, Lehr HA, Fisher C, Balzer BL, Weiss SW. Perivascular epithelioid cell tumor of soft tissue and gynecologic origin: a clinicopathologic study of 26 cases and review of the literature. Am J Surg Pathol 29: 1558–75, 2005.CrossRefPubMed Folpe A, Mentzel T, Lehr HA, Fisher C, Balzer BL, Weiss SW. Perivascular epithelioid cell tumor of soft tissue and gynecologic origin: a clinicopathologic study of 26 cases and review of the literature. Am J Surg Pathol 29: 1558–75, 2005.CrossRefPubMed
2.
go back to reference Hornick J. Practical soft tissue pathology: a diagnostic approach. Elsevier Saunders, chapter 6: 169–172, 2013. Hornick J. Practical soft tissue pathology: a diagnostic approach. Elsevier Saunders, chapter 6: 169–172, 2013.
3.
go back to reference Mete O, Van der Kwast TH. Epithelioid angiomyolipoma: a morphologically distinct variant that mimics a variety of intra-abdominal neoplasms. Arch Pathol Lab Med 135: 665–70, 2011.PubMed Mete O, Van der Kwast TH. Epithelioid angiomyolipoma: a morphologically distinct variant that mimics a variety of intra-abdominal neoplasms. Arch Pathol Lab Med 135: 665–70, 2011.PubMed
4.
go back to reference Argani P, Aulmann S, Karanjawala Z, Fraser RB, Ladanyi M, Rodriguez MM. Melanotic Xp11 translocation renal cancers: a distinctive neoplasm with overlapping features of PEComa, carcinoma, and melanoma. Am J Surg Pathol 33: 609–19, 2009.CrossRefPubMed Argani P, Aulmann S, Karanjawala Z, Fraser RB, Ladanyi M, Rodriguez MM. Melanotic Xp11 translocation renal cancers: a distinctive neoplasm with overlapping features of PEComa, carcinoma, and melanoma. Am J Surg Pathol 33: 609–19, 2009.CrossRefPubMed
5.
go back to reference Argani P, Aulmann S, Illei PB, Netto GJ, Ro J, Cho HY, Dogan S, Ladanyi M, Martignoni G, Goldblum JR, Weiss SW. A distinct subset of PEComas harbors TFE3 gene fusions. Am J Surg Pathol 34: 1395–1406, 2010.CrossRefPubMed Argani P, Aulmann S, Illei PB, Netto GJ, Ro J, Cho HY, Dogan S, Ladanyi M, Martignoni G, Goldblum JR, Weiss SW. A distinct subset of PEComas harbors TFE3 gene fusions. Am J Surg Pathol 34: 1395–1406, 2010.CrossRefPubMed
6.
go back to reference Shen Q, Rao Q, Xia QY, Yu B, Shi QL, Zhang RS, Zhou XJ. Perivascular epithelioid cell tumor (PEComa) with TFE3 gene rearrangement: clinicopathological, immunohistochemical, and molecular features. Virchows Arch 465: 607–613, 2014.CrossRefPubMed Shen Q, Rao Q, Xia QY, Yu B, Shi QL, Zhang RS, Zhou XJ. Perivascular epithelioid cell tumor (PEComa) with TFE3 gene rearrangement: clinicopathological, immunohistochemical, and molecular features. Virchows Arch 465: 607–613, 2014.CrossRefPubMed
7.
go back to reference Rao Q, Shen Q, Xia QY, Wang ZY, Liu B, Shi SS, Shi QL, Yin HL, Wu B, Ye SB, Li L, Chen JY, Pan MH, Li Q, Li R, Wang X, Zhang RS, Yu B, Ma HH, Lu ZF, Zhou XJ. PSF/SFPQ Is a very common gene fusion partner in TFE3 rearrangement–associated perivascular epithelioid cell tumors (PEComas) and melanotic Xp11 translocation renal cancers. Am J Surg Pathol 39: 1181–1196, 2015. Rao Q, Shen Q, Xia QY, Wang ZY, Liu B, Shi SS, Shi QL, Yin HL, Wu B, Ye SB, Li L, Chen JY, Pan MH, Li Q, Li R, Wang X, Zhang RS, Yu B, Ma HH, Lu ZF, Zhou XJ. PSF/SFPQ Is a very common gene fusion partner in TFE3 rearrangement–associated perivascular epithelioid cell tumors (PEComas) and melanotic Xp11 translocation renal cancers. Am J Surg Pathol 39: 1181–1196, 2015.
8.
go back to reference Righi A. Dimosthenous K, Rosai J. PEComa: Another member of the MiT tumor family? Int J Surg Pathol 16: 16-20, 2008. Righi A. Dimosthenous K, Rosai J. PEComa: Another member of the MiT tumor family? Int J Surg Pathol 16: 16-20, 2008.
9.
go back to reference Folpe A, Deyrup A. Alveolar soft-part sarcoma: a review and update. J Clin Pathol 59: 1127-1132, 2006. Folpe A, Deyrup A. Alveolar soft-part sarcoma: a review and update. J Clin Pathol 59: 1127-1132, 2006.
10.
go back to reference Cho Y, Chung DH, Khurana H, Zhai QJ, Ro JY. The role of TFE3 in PEComa. Histopathology 53: 236–8, 2008.CrossRefPubMed Cho Y, Chung DH, Khurana H, Zhai QJ, Ro JY. The role of TFE3 in PEComa. Histopathology 53: 236–8, 2008.CrossRefPubMed
11.
go back to reference Kuroda N, Goda M, Kazakov DV, Hes O, Michal M, Lee GH. Perivascular epithelioid cell tumor of the nasal cavity with TFE3 expression. Pathol Int 59: 769-70, 2009. Kuroda N, Goda M, Kazakov DV, Hes O, Michal M, Lee GH. Perivascular epithelioid cell tumor of the nasal cavity with TFE3 expression. Pathol Int 59: 769-70, 2009.
12.
go back to reference Asa SL. Tumors of the Pituitary Gland. Fascicle 15, 4th Series. The Atlas of Tumor Pathology. Armed Forces Institute of Pathology: Washington DC, 2011; ISBN: 1-933477-11-3. Asa SL. Tumors of the Pituitary Gland. Fascicle 15, 4th Series. The Atlas of Tumor Pathology. Armed Forces Institute of Pathology: Washington DC, 2011; ISBN: 1-933477-11-3.
13.
go back to reference Asa SL, Kovacs K, Horvath E, Ezrin C, Weiss MH. Sellar glomangioma. Ultrastruct Pathol 7:49–54, 1984. Asa SL, Kovacs K, Horvath E, Ezrin C, Weiss MH. Sellar glomangioma. Ultrastruct Pathol 7:49–54, 1984.
14.
go back to reference Ebinu JO, Shahideh M, Ibrahim GM, Vescan A, Gentili F, Ridout R, Asa S, Zadeh G.Sellar glomangioma. Endocr Pathol 22:218–221, 2011.CrossRefPubMed Ebinu JO, Shahideh M, Ibrahim GM, Vescan A, Gentili F, Ridout R, Asa S, Zadeh G.Sellar glomangioma. Endocr Pathol 22:218–221, 2011.CrossRefPubMed
15.
go back to reference Mete O, Lopes BM, Asa SL. Spindle cell oncocytomas and granular cell tumors of the pituitary are variants of pituicytoma. Am J Surg Pathol 37: 1694–1699, 2013.CrossRefPubMed Mete O, Lopes BM, Asa SL. Spindle cell oncocytomas and granular cell tumors of the pituitary are variants of pituicytoma. Am J Surg Pathol 37: 1694–1699, 2013.CrossRefPubMed
16.
go back to reference Saeed Kamil Z, Sinson G, Gucer H, Asa SL, Mete O. TTF-1 expressing sellar neoplasm with ependymal rosettes and oncocytic change: mixed ependymal and oncocytic variant pituicytoma. Endocr Pathol 25: 436–8, 2014.CrossRefPubMed Saeed Kamil Z, Sinson G, Gucer H, Asa SL, Mete O. TTF-1 expressing sellar neoplasm with ependymal rosettes and oncocytic change: mixed ependymal and oncocytic variant pituicytoma. Endocr Pathol 25: 436–8, 2014.CrossRefPubMed
17.
go back to reference Bleeker JS, Quevedo JF, Folpe AL.“Malignant” perivascular epithelioid cell neoplasm: risk stratification and treatment strategies. Sarcoma 2012: 541626, 2012.CrossRefPubMedPubMedCentral Bleeker JS, Quevedo JF, Folpe AL.“Malignant” perivascular epithelioid cell neoplasm: risk stratification and treatment strategies. Sarcoma 2012: 541626, 2012.CrossRefPubMedPubMedCentral
19.
go back to reference Schoolmeester JK, Dao LN, Sukov WR, Wang L, Park KJ, Murali R, Hameed MR, Soslow RA. TFE3 translocation-associated perivascular epithelioid cell neoplasm (PEComa) of the gynecologic tract: morphology, immunophenotype, differential diagnosis. Am J Surg Pathol 39: 394–404, 2015.CrossRefPubMedPubMedCentral Schoolmeester JK, Dao LN, Sukov WR, Wang L, Park KJ, Murali R, Hameed MR, Soslow RA. TFE3 translocation-associated perivascular epithelioid cell neoplasm (PEComa) of the gynecologic tract: morphology, immunophenotype, differential diagnosis. Am J Surg Pathol 39: 394–404, 2015.CrossRefPubMedPubMedCentral
20.
go back to reference Wang XT, Xia QY, Ni H, Wang ZY, Ye SB, Li R, Wang X, Lv JH, Shi SS, Ma HH, Lu. Xp11 Neoplasm with melanocytic differentiation of the prostate harboring the novel NONO-TFE3 gene fusion: report of a unique case expanding the gene fusion spectrum. Histopathol. Wang XT, Xia QY, Ni H, Wang ZY, Ye SB, Li R, Wang X, Lv JH, Shi SS, Ma HH, Lu. Xp11 Neoplasm with melanocytic differentiation of the prostate harboring the novel NONO-TFE3 gene fusion: report of a unique case expanding the gene fusion spectrum. Histopathol.
Metadata
Title
TFE3-Expressing Perivascular Epithelioid Cell Neoplasm (PEComa) of the Sella Turcica
Authors
Martin D. Hyrcza
Daniel A. Winer
Mary Shago
Karolyn Au
Gelareh Zadeh
Sylvia L. Asa
Ozgur Mete
Publication date
01-03-2017
Publisher
Springer US
Published in
Endocrine Pathology / Issue 1/2017
Print ISSN: 1046-3976
Electronic ISSN: 1559-0097
DOI
https://doi.org/10.1007/s12022-016-9434-7