Ocular PEComas are frequently melanotic and TFE3-translocated: report of two cases including the first description of PRCC-TFE3 fusion in PEComa

Gao, Yang; Chen, G; Chow, Chung Mo; Io, Ida Yu-Fong; Wong, Eva Wai Nam; Tsui, W M S; Lam, W. Y.; To, Ka Fai; Chan, John K. C.; Cheuk, Wah

doi:10.1007/s00428-020-02890-w

Cited by 13 publications

(22 citation statements)

References 16 publications

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“…Similarly, in a recent series of 31 malignant PEComas subjected to DNA and RNA profiling, 5 (16%) tumors harbored a TFE3 fusion, but were wildtype for TSC1 , TSC2 , and FLCN 79 . Other fusion partners that have been detected include NONO , 79,85‐87 RBMX , 88 PRCC , 79,89 RBM10 , 79 and ZC3H4 , 79 but overall SFPQ/PSF appears to be the most recurring gene associated with TFE3 ‐rearranged PEComas 90 …”

Section: Molecular Featuresmentioning

confidence: 88%

Perivascular epithelioid cell tumors (PEComa) of the gynecologic tract

Bennett

Oliva

2020

Genes Chromosomes & Cancer

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PEComas of the female genital tract are rare mesenchymal neoplasms that are most common in the uterus, but also may occur in other gynecologic locations. As they morphologically and immunohistochemically resemble smooth muscle tumors, distinction between the two entities is often challenging, and may be aided by molecular analysis. Thus far, two distinct molecular groups‐classic PEComas with TSC mutations and TFE3‐translocation associated PEComas with TFE3 fusions have been described. Recognition of the first group is imperative as these patients may benefit from targeted therapy with mTOR inhibitors, if malignant. This review will focus on recognition of the morphologic and immunophenotypic features of PEComas, as well as the role of molecular testing in their diagnosis and treatment, analysis of the different algorithms to predict behavior, and differential diagnosis.

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Section: Molecular Featuresmentioning

confidence: 88%

Perivascular epithelioid cell tumors (PEComa) of the gynecologic tract

Bennett

Oliva

2020

Genes Chromosomes & Cancer

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“…5 Other rare gene rearrangements include RAD51B-RRAGB/OPHN1, HTR4-ST3GAL1, and RASSF1-PDZRN3. 4 There is no standard treatment for PEComas given their rarity, but complete excision with follow-up is generally recommended. In cases of malignancy or where complete resection is not possible, chemotherapy can be helpful.…”

Section: Discussionmentioning

confidence: 99%

“…4,5 Ocular PEComas are rare; only 15 cases of ocular PEComas are reported in the literature. 4 Ocular PEComas usually present as a slow-growing, painless, well-circumscribed mass. In the 15 reported cases, 8 were found in the orbital soft tissue, 5 in intraocular structures, 1 in the eyelid, and 1 in the subconjunctiva; to our knowledge, this is the first reported case of a PEComa located in the fornix.…”

Section: Discussionmentioning

confidence: 99%

“…Intraocular PEComas are often clinically suspected as melanoma; however, ocular PEComas appear to show an overrepresentation of TFE rearrangements relative to the overall group of PEComas at all sites, and accordingly are generally negative for S-100 and SRY-related HMG-box 10. 4 Ocular squamous cell carcinoma and pyogenic granuloma typically lack the HMB-45 melanocytic marker. 11,12 Alveolar soft part sarcoma characteristically display TFE3 gene rearrangements but was a less likely possibility in this case given that they generally lack melanocytic marker expression.…”

Section: Discussionmentioning

confidence: 99%

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Conjunctival Perivascular Epithelioid Cell Neoplasm With RBM10-TFE3 Fusion Presenting as Recurrent Subconjunctival Hemorrhage

Park

Ozzello

Ting

et al. 2022

Ophthalmic Plastic &Amp; Reconstructive Surgery

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Subconjunctival hemorrhages commonly present to eye care professionals and are frequently regarded as benign self-limited conditions. In selected cases, subconjunctival hemorrhages can be a harbinger of more severe disease. Perivascular epithelioid cell tumors, or PEComas, are rare mesenchymal neoplasms believed to originate from perivascular myoid cells and are rarely present in ocular structures. We present a rare case of a conjunctival perivascular epithelioid cell tumor that initially presented with recurrent subconjunctival hemorrhage. To our knowledge, this is the first description of a PEComa with a RBM10-TFE3 gene fusion, only previously seen with renal cell carcinoma. Physicians should be aware of this rare condition, its location in the fornix and its presentation as a recurrent subconjunctival hemorrhage.

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“…60 TFE3 rearrangements have been reported in PEComas (including epithelioid angiomyolipomas) of the genitourinary, 61 gynecologic, 62 and gastrointestinal tracts 63 as well as in other unusual locations. 64,65 The most commonly reported fusions in PEComas are SFPQ::TFE3 , NONO::TFE3 and PRCC::TFE3 (Table 2).…”

Section: About the Transcription Factor Binding To Ighm Enhancer 3 (T...mentioning

confidence: 99%

TFE3 Rearrangement and Expression in Renal Cell Carcinoma

Kmeid

Akgul

2022

Int J Surg Pathol

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TFE3 rearranged Renal cell carcinoma (RCC) is not very common, and demonstrates unique heterogenous morphological features overlapping other recognized entities and distinct immunoprofile. It can be seen in any age group, therefore practicing pathologists should be aware of the distinctive clinical settings and histologic findings associated with these tumors and subsequently employ an adequate panel of ancillary studies in order to confirm the diagnosis. Recognizing these entities remains crucial for future clinical trials and development of novel therapies.

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Ocular PEComas are frequently melanotic and TFE3-translocated: report of two cases including the first description of PRCC-TFE3 fusion in PEComa

Cited by 13 publications

References 16 publications

Perivascular epithelioid cell tumors (PEComa) of the gynecologic tract

Perivascular epithelioid cell tumors (PEComa) of the gynecologic tract

Conjunctival Perivascular Epithelioid Cell Neoplasm With RBM10-TFE3 Fusion Presenting as Recurrent Subconjunctival Hemorrhage

TFE3 Rearrangement and Expression in Renal Cell Carcinoma

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