PMID- 38184586
OWN - NLM
STAT- MEDLINE
DCOM- 20240108
LR  - 20240109
IS  - 1746-1596 (Electronic)
IS  - 1746-1596 (Linking)
VI  - 19
IP  - 1
DP  - 2024 Jan 6
TI  - Cutaneous melanocytic tumor with CRTC1::TRIM11 fusion: a case report.
PG  - 8
LID - 10.1186/s13000-023-01437-2 [doi]
LID - 8
AB  - BACKGROUND: Cutaneous Melanocytic Tumor with CRTC1::TRIM11 Fusion (CMTCT) 
      represents a novel and rare entity in the realm of dermatological oncology, 
      characterized by distinct melanocytic differentiation. This particular tumor type 
      has yet to be officially recognized by the World Health Organization (WHO). CMTCT 
      is generally perceived as a tumor with a relatively indolent nature; however, it 
      is not devoid of metastatic potential. Therefore, ensuring complete surgical 
      excision of the tumor, coupled with rigorous long-term follow-up, is paramount 
      for patient management. In this context, we report the case of an 18-year-old 
      female patient who presented with a dull red nodule on her left leg. Initial 
      surgical intervention led to a pathological diagnosis of CMTCT, but it was 
      determined that the tumor had not been fully excised. Consequently, a second 
      surgical procedure was undertaken to achieve complete removal of the tumor. 
      During a follow-up period of six months post-surgery, the patient showed no signs 
      of local recurrence or metastasis, indicating a successful outcome. CASE 
      PRESENTATION: An 18-year-old female patient noticed a dull red nodule on her left 
      leg three years ago, which exhibited slow growth over time. She underwent a 
      subcutaneous tumor resection. Histological examination under high-power 
      magnification revealed that the neoplasm consisted of epithelioid cells arranged 
      in nests, fascicles, bundles, or sheets. The tumor cells had round or ovoid 
      nuclei with prominent nucleoli and visible mitotic figures. Notably, areas 
      resembling nevus cell clusters were observed. Immunohistochemical analysis 
      confirmed melanocytic differentiation. Next-generation sequencing (NGS) 
      identified a CRTC1::TRIM11 fusion, and fluorescence in situ hybridization (FISH) 
      for CRTC1 confirmed rearrangement. Consequently, a diagnosis of cutaneous 
      melanocytic tumor with CRTC1::TRIM11 fusion was established. CONCLUSIONS: CMTCT 
      is a rare tumor characterized by melanocytic differentiation. In this case, the 
      tumor predominantly comprised epithelioid cells with localized nevus cell 
      clusters. The expression of melanocyte markers could easily lead to a 
      misdiagnosis as cutaneous melanoma. However, several distinguishing features were 
      noted: the tumor was not connected to the epidermis, exhibited low cellular 
      heterogeneity and proliferation index, and showed minimal cellular atypia. 
      Additionally, tests for EWSR1 rearrangement (FISH) and BRAF V600E mutation 
      (PCR-ARMS) were negative.This case underscores the importance of a comprehensive 
      diagnostic approach when clinical, microscopic, immunohistochemical, and 
      molecular findings do not align. The presence of nevus cell clusters morphology 
      in the tumor cells enhances our understanding of this disease's histological 
      spectrum and aids in avoiding misdiagnosis or missed diagnosis.
CI  - (c) 2024. The Author(s).
FAU - Duan, Rong
AU  - Duan R
AD  - Department of Pathology, Second Affiliated Hospital of Zhejiang University School 
      of Medicine, Hangzhou, China.
FAU - He, Xiaojuan
AU  - He X
AD  - Department of Pathology, Second Affiliated Hospital of Zhejiang University School 
      of Medicine, Hangzhou, China.
FAU - Ma, Xiaojing
AU  - Ma X
AD  - Department of Pathology, Second Affiliated Hospital of Zhejiang University School 
      of Medicine, Hangzhou, China.
FAU - Huang, Fengbo
AU  - Huang F
AD  - Department of Pathology, Second Affiliated Hospital of Zhejiang University School 
      of Medicine, Hangzhou, China.
FAU - Hu, Xiangrong
AU  - Hu X
AD  - Department of Pathology, Second Affiliated Hospital of Zhejiang University School 
      of Medicine, Hangzhou, China. 2320062@zju.edu.cn.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20240106
PL  - England
TA  - Diagn Pathol
JT  - Diagnostic pathology
JID - 101251558
RN  - 0 (Transcription Factors)
RN  - 0 (CRTC1 protein, human)
RN  - EC 2.3.2.27 (TRIM11 protein, human)
RN  - 0 (Tripartite Motif Proteins)
RN  - EC 2.3.2.27 (Ubiquitin-Protein Ligases)
SB  - IM
MH  - Female
MH  - Humans
MH  - Adolescent
MH  - *Skin Neoplasms/genetics
MH  - *Melanoma/genetics
MH  - In Situ Hybridization, Fluorescence
MH  - *Nevus
MH  - Transcription Factors/genetics
MH  - *Nevus, Pigmented
MH  - Tripartite Motif Proteins
MH  - Ubiquitin-Protein Ligases
PMC - PMC10770898
COIS- The authors declare no competing interests.
EDAT- 2024/01/07 06:44
MHDA- 2024/01/08 06:43
PMCR- 2024/01/06
CRDT- 2024/01/06 23:16
PHST- 2023/02/01 00:00 [received]
PHST- 2023/12/27 00:00 [accepted]
PHST- 2024/01/08 06:43 [medline]
PHST- 2024/01/07 06:44 [pubmed]
PHST- 2024/01/06 23:16 [entrez]
PHST- 2024/01/06 00:00 [pmc-release]
AID - 10.1186/s13000-023-01437-2 [pii]
AID - 1437 [pii]
AID - 10.1186/s13000-023-01437-2 [doi]
PST - epublish
SO  - Diagn Pathol. 2024 Jan 6;19(1):8. doi: 10.1186/s13000-023-01437-2.