CRTC1-TRIM11 Fusion in a Case of Metastatic Clear Cell Sarcoma

Bontoux, Christophe; Baroudjian, Barouyr; Maignan, Christine Le; Vercellino, Laëtitia; Farges, C.; Guillemot, Delphine; Lebbe, Célèste; Battistella, Maxime

doi:10.1097/pas.0000000000001217

Cited by 22 publications

(18 citation statements)

References 5 publications

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“…Except for one case with metastasis 13 years after diagnosis, none have recurred following excision after a median follow-up of 12 months (range 1 month to 13 years). 1,2,5,6,23 Histopathologically, CMCT is typically a well-circumscribed, unencapsulated dermal tumor with nodular to multinodular borders. 7 Our case is the first example of a compound CMCT showing considerable epidermal involvement.…”

Section: Discussionmentioning

confidence: 99%

“…Suggested clinical diagnoses have included dermatofibroma, epidermal cyst, Spitz nevus, melanoma, and pyogenic granuloma. Except for one case with metastasis 13 years after diagnosis, none have recurred following excision after a median follow‐up of 12 months (range 1 month to 13 years) 1,2,5,6,23 …”

Section: Discussionmentioning

confidence: 99%

“… 1 Eight additional cases have been reported since this initial case series. A single case showed metastatic activity, 2 suggesting a subset of these tumors may have malignant potential. The term “cutaneous melanocytic tumor or melanocytoma with CRTC1::TRIM11 fusion” (CMCT) has been suggested to reflect the biologic uncertainty of these neoplasms.…”

Section: Introductionmentioning

confidence: 99%

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Cutaneous melanocytic tumor with CRTC1::TRIM11 fusion and prominent epidermal involvement: A case report

et al. 2022

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Cutaneous melanocytic tumor with CRTC1::TRIM11 fusion (CMCT) is a recently described entity with only 13 cases reported in the literature. Histopathologically, the neoplasm consists of atypical epithelioid to spindled cells that form a wellcircumscribed nodule usually confined to the dermis and subcutis with cytological features including large vesicular nuclei with prominent nucleoli and abundant eosinophilic cytoplasm. Immunohistochemistry shows variable expressivity of melanocytic markers. Currently, there are limited data regarding long-term outcomes of this newly described entity. Most cases have done well, but there is one case reported with an adverse event. Hence, further studies are needed to accurately classify this tumor. Definitive diagnosis is made by laboratory evidence of CMCT.Herein, we report the first case of CMCT with epidermal involvement in the youngest patient known to be affected to date.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Cutaneous melanocytic tumor with CRTC1::TRIM11 fusion and prominent epidermal involvement: A case report

et al. 2022

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“…Twelve out of the thirteen cases showed no recurrence of disease after a median follow‐up of 12 months. One case revealed a metastasis 13 years after the initial diagnosis 111 . Based on this finding, Bontoux et al 111 suggested that this tumor should be reclassified as a CCS with a novel CRTC1::TRIM11 fusion.…”

Section: Clear Cell Sarcomamentioning

confidence: 99%

“…One case revealed a metastasis 13 years after the initial diagnosis 111 . Based on this finding, Bontoux et al 111 suggested that this tumor should be reclassified as a CCS with a novel CRTC1::TRIM11 fusion. However, while the cutaneous melanocytic tumor with CRTC1::TRIM11 fusion has a morphological and immunohistochemical resemblance to CCS, it is composed of larger cells, with moderate to severe cytologic atypia, brisk mitotic activity, and well‐defined borders compared to CCS.…”

Section: Clear Cell Sarcomamentioning

confidence: 99%

Nevus, melanoma, or something else? Mesenchymal neoplasms with melanocytic differentiation

Evangelou

Linos

2022

J Cutan Pathol

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The overwhelming majority of cutaneous neoplasms with melanocytic differentiation are nevi, melanomas, or less commonly melanocytomas. Nevertheless, there is also a group of mesenchymal neoplasms with genuine melanocytic differentiation which can create diagnostic difficulties with significant repercussions. These can rarely present as primary or metastatic cutaneous lesions. The ones that are relevant to a dermatopathologist include malignant melanotic nerve sheath tumor, perivascular epithelioid cell neoplasm, and clear cell sarcoma. This work will provide a thorough review of clinical presentation, morphologic and immunohistochemical features as well as molecular pathogenesis of these tumors. We hope to familiarize the general dermatopathology readership with a group of neoplasms of mesenchymal lineage exhibiting melanocytic differentiation and ultimately avoid diagnostic misadventures.

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Update on cutaneous mesenchymal tumors in the 5th edition of WHO classification of skin tumors with an emphasis on new fusion-associated neoplasms

Kalmykova,

Baranovska-Andrigo,

Michal

2024

Virchows Arch

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The section on mesenchymal tumors in the 5th edition of WHO classification of skin tumors has undergone several changes, the most important of which is the inclusion of newly identified tumor entities, which will be the main focus of this review article. These specifically include three novel cutaneous mesenchymal tumors with melanocytic differentiation, and rearrangements of the CRTC1::TRIM11, ACTIN::MITF, and MITF::CREM genes as well as EWSR1::SMAD3-rearranged fibroblastic tumors, superficial CD34-positive fibroblastic tumors, and NTRK-rearranged spindle cell neoplasms. Some of the other most important changes will be briefly mentioned as well.

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CRTC1-TRIM11 Fusion in a Case of Metastatic Clear Cell Sarcoma

Cited by 22 publications

References 5 publications

Cutaneous melanocytic tumor with CRTC1::TRIM11 fusion and prominent epidermal involvement: A case report

Cutaneous melanocytic tumor with CRTC1::TRIM11 fusion and prominent epidermal involvement: A case report

Nevus, melanoma, or something else? Mesenchymal neoplasms with melanocytic differentiation

Update on cutaneous mesenchymal tumors in the 5th edition of WHO classification of skin tumors with an emphasis on new fusion-associated neoplasms

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