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

Abstract

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.

Cutaneous melanocytic tumour with CRTC1::TRIM11 fusion in a case with recurrent local lymph node and distant pulmonary metastases at early stage: aggressive rather than indolent?

“…However, this new entity remains largely unknown. To our knowledge, there are seven references, including 55 cases reported in the English literature, including a most recently published largest series of 41 cases, and nearly all the cases appear to have a relatively indolent behaviour 1–7 . We herein present a CMTCT case with a more aggressive clinical course, and share the diagnostic traps and tips to more clearly interpret the biological behaviour of this tumour.…”

Association of germline variants in telomere maintenance genes (POT1, TERF2IP, ACD, and TERT) with spitzoid morphology in familial melanoma: A multi-center case series

“… 14 , 15 Lastly, tissue was not available for cases with spitzoid morphology to evaluate for somatic alterations (ie, HRAS variants and gene fusions involving ALK , ROS1 , NTRK1 , NTRK3 , MET , RET , BRAF , MAP3K8 , and CRTC1::TRIM11 ) that have been associated with pediatric spitzoid tumors. 16 , 17 Therefore, tumor studies are needed to understand the biological mechanisms linking dysfunctional telomere maintenance to spitzoid differentiation in familial melanoma cases.…”

CRTC1::TRIM11 cutaneous tumor: An update with local recurrence and lung metastasis in a pediatric patient

“…The data that support the findings of this study are available from the corresponding author upon reasonable request. Blake E. Vest MD 1 Kristen G. Berrebi MD 1,2 Mary S. Stone MD 1 Michael R. Sargen MD 3…”

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We recently reported a case of CRTC1::TRIM11 fusion with prominent epidermal involvement mimicking a Spitz tumor arising on the arm in a 5-year-old female. 1 The latest edition of the WHO Classification of Skin Tumors has removed the term "melanocytic", and the official name is now "CRTC1::TRIM11 cutaneous tumor" (CTCT). Briefly, CTCT is a newly described entity with reproducible histopathologic and molecular characteristics.

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