Perivascular epithelioid cell tumor of the sigmoid colon with transcription factor E3 expression

Lee, Miji; Cho, Kyung–Ja; Yu, Chang-Sik; Park, Youngsu; Kim, Jin Cheon; Yu, Eunsil; Kim, Mi‐Jung

doi:10.1016/j.anndiagpath.2011.01.007

Cited by 12 publications

(14 citation statements)

References 23 publications

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“…Review of literature's cases of confirmed TFE3 rearranged PEComa of any organ(1, 3-7) (Table 4) indicate that these neoplasms have an extreme predisposition to women (all nine examples have occurred in women), no association with tuberous sclerosis complex and a wide age spectrum (9 to 57 years, median 32). Our findings for gynecologic tumors are essentially identical.…”

Section: Discussionmentioning

confidence: 99%

“…These tumors appear to have a unique morphology and specific immunophenotype when compared to their conventional (non-rearranged) counterparts(1, 3-7). They typically are composed of purely clear cell epithelioid cells with an alveolar architecture, mostly clear cytoplasm, round nuclei and label strongly for TFE3 and HMB45 while minimally expressing muscle markers.…”

Section: Introductionmentioning

confidence: 99%

“…To date, reports of confirmed (either by FISH or RT-PCR) TFE3 rearranged PEComa are few with only nine cases(1, 3-7). The clinicopathologic findings in these cases suggest a mostly consistent morphology and immunoprofile, a disposition toward younger age and no association with tuberous sclerosis complex.…”

Section: Introductionmentioning

confidence: 99%

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TFE3 Translocation–associated Perivascular Epithelioid Cell Neoplasm (PEComa) of the Gynecologic Tract

Schoolmeester

Dao

Sukov

et al. 2015

American Journal of Surgical Pathology

147

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TFE3 translocation associated PEComa is a distinct form of perivascular epithelioid cell neoplasm, the features of which are poorly defined owing to their general infrequency and limited prior reports with confirmed rearrangement or fusion totaling nine cases. Recent investigation has found a lack of TSC gene mutation in these tumors compared to their nonrearranged counterparts which underscores the importance of recognizing the translocated variant due to hypothetical ineffectiveness of targeted mTOR inhibitor therapy. Six cases were identified and TFE3 rearrangement was confirmed by FISH. Patient age ranged 46 to 66 years (median 50) and none had a history of tuberous sclerosis complex. Three cases arose in the uterine corpus, one in the vagina, and one pelvic tumor and one pulmonary tumor were likely a recurrence/metastasis from a probable uterine primary. Five cases had purely clear cell epithelioid morphology that showed a spectrum of atypia while one case had a mixture of clear cell epithelioid and spindle cells. A mostly consistent immunophenotype was observed in the purely clear cell epithelioid cases: each demonstrated diffuse TFE3, HMB45, CathepsinK labeling, either focal or no melanA staining and variably weak reactivity to smooth muscle markers. The mixed clear cell epithelioid and spindle cell case had a similar pattern in its epithelioid component, but strong muscle marker positivity in its spindle cell component. Follow up ranged 1 to 57 months. Three cases demonstrated aggressive behavior and three cases had no evidence of recurrence. Both GYN-specific and traditional sets of criteria for malignancy were evaluated. The GYN model showed improved inclusion and specificity in comparison to the traditional model.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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TFE3 Translocation–associated Perivascular Epithelioid Cell Neoplasm (PEComa) of the Gynecologic Tract

Schoolmeester

Dao

Sukov

et al. 2015

American Journal of Surgical Pathology

147

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“…We did a literature search using PubMed to investigate the clinicopathological features of colonic PEComa and found 21 primary cases, including that of our patient [8][9][10][11][12][13][14][15][16][17][18][19][20][21][22][23][24] . These are summarized in Table 1.…”

Section: Discussionmentioning

confidence: 99%

Laparoscopically resected perivascular epithelioid cell tumor of the ascending colon demonstrating submucosal tumor morphology: a case report

Nagai

Kiyomatsu

Kume

et al. 2020

Preprint

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Background: The differential diagnosis for a colonic submucosal tumor (SMT) can include many types of cancer. We report a case of a perivascular epithelioid cell tumor (PEComa), a rare mesenchymal neoplasm that demonstrates SMT morphology, in the ascending colon.Case presentation: A mass was incidentally detected by computed tomography (CT) in a 53-year-old man. Colonoscopy revealed an SMT with central ulceration in the ascending colon, and 18F-fluoro-2-deoxy-D-glucose positron emission tomography CT demonstrated a high maximum standardized uptake value of 7.33. Preoperative diagnosis was inconclusive. Given the malignant potential of the tumor, we performed a laparoscopic right hemicolectomy with D3 lymph node dissection. The tumor was 5.5 cm × 4.1 cm and located in the submucosa and muscular propria. There was no lymph node metastasis (0/46). Based on the positive immunohistochemical stainings of both melanocytic (HMB45) and muscle (desmin) markers, we diagnosed the tumor as a PEComa. In the 17 months since surgical resection, the patient has not experienced recurrence, but careful observation should continue because of the malignant potential of the tumor.Conclusions: Although rare, a PEComa should be considered in the differential diagnosis of colonic SMT. Immunohistochemical staining of melanocytic and muscle markers is useful for the diagnosis.

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“…The MITF gene is amplified in 20% of malignant melanomas and is aberrantly expressed in CCS secondary to overexpression of the EWSR1‐ATF1 (Ewing sarcoma breakpoint region 1–activating transcription factor 1) fusion gene product 9, 10. Likewise, translocation of MITF family genes TFE3 and TFEB to heterologous promoters characteristically leads to overexpression of the TFE3 and TFEB transcriptional activators in ASPS, tRCC, and certain malignant perivascular epithelioid cell tumors (known as “PEComa”) 11‐16. Modulation of the DNA‐binding activity of MITF family members has demonstrated a requirement for their transcriptional activator functions in oncogenesis, suggesting that MITF family regulatory pathways may be attractive targets for development of therapeutic agents to treat MiT tumors 10…”

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confidence: 99%

Tivantinib (ARQ 197), a selective inhibitor of MET, in patients with microphthalmia transcription factor–associated tumors

Wagner

Goldberg

DuBois

et al. 2012

Cancer

146

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BACKGROUND: Microphthalmia transcription factor (MITF)‐associated (MiT) tumors are a family of rare malignancies, including alveolar soft part sarcoma (ASPS), clear cell sarcoma (CCS), and translocation‐associated renal cell carcinoma (tRCC) that have dysregulated expression of oncogenic MITF family proteins. The MET receptor tyrosine kinase gene is transcriptionally activated by MITF family proteins, making MET a potential therapeutic target for MiT tumors. This study assessed the activity of tivantinib (ARQ 197), a selective MET inhibitor, in patients with MiT‐associated tumors. METHODS: This multicenter, single‐arm, phase 2 trial enrolled patients with advanced MiT tumors. Patients initially received tivantinib 120 mg orally twice daily, then 360 mg twice daily per protocol amendment. The primary endpoint was overall response rate. Secondary endpoints included safety, progression‐free survival, pharmacokinetics, and correlative studies. RESULTS: A total of 47 patients (median age, 25 years; range, 11‐73 years) with ASPS (n = 27), CCS (n = 11), tRCC (n = 6), or other tumor types (n = 3) were enrolled. Common grade 3/4 drug‐related adverse events included anemia (4%) and neutropenia (4%). Three patients (6.4%) experienced 4 treatment‐related serious adverse events (grade 3 febrile neutropenia, thrombocytopenia, and deep vein thrombosis, and grade 4 thrombocytopenia). Best response was partial response in 1 CCS patient (2%) and stable disease in 28 patients (60%). Median progression‐free survival was 3.6 months (overall), 5.5 months (ASPS), and 1.9 months (CCS and tRCC). Baseline MET expression was strongly or focally positive in tumor samples from 14 of 19 patients (74%). CONCLUSIONS: Tivantinib was safe and tolerable in patients with MiT tumors, but antitumor activity was modest. Cancer 2012. © 2012 American Cancer Society.

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Perivascular epithelioid cell tumor of the sigmoid colon with transcription factor E3 expression

Cited by 12 publications

References 23 publications

TFE3 Translocation–associated Perivascular Epithelioid Cell Neoplasm (PEComa) of the Gynecologic Tract

TFE3 Translocation–associated Perivascular Epithelioid Cell Neoplasm (PEComa) of the Gynecologic Tract

Laparoscopically resected perivascular epithelioid cell tumor of the ascending colon demonstrating submucosal tumor morphology: a case report

Tivantinib (ARQ 197), a selective inhibitor of MET, in patients with microphthalmia transcription factor–associated tumors

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