CRTC1::TRIMM11 kutanöz tümör: yeni bir antite


Güngör Şahin G., Öztürk Sarı Ş.

35th European Congress of Pathology, Dublin, İrlanda, 9 - 13 Eylül 2023, ss.184-185

  • Yayın Türü: Bildiri / Özet Bildiri
  • Basıldığı Şehir: Dublin
  • Basıldığı Ülke: İrlanda
  • Sayfa Sayıları: ss.184-185
  • İstanbul Üniversitesi Adresli: Evet

Özet

Background & objectives

CRTC1::TRIMM11 cutaneous tumor is a new entity in the 5th edition of WHO classification. It

commonly occurs in the extremities of patients of various ages. Although they are expected to

behave indolently, the scarcity of cases makes this uncertain.


Methods

We present the case of a 14-year-old girl with a 1 cm exophytic nodular lesion on the shoulder

that was clinically suspected to be a sweat gland tumor. The lesion was excised for

pathological examination. In addition to light microscopy, immunohistochemical analysis (IHC-

a), fluorescence in situ hybridization (FISH) and Next-generation sequencing (NGS) were

performed.


Results


Histopathological analysis revealed a spindle-cell tumor in the dermis with a well-

circumscribed border. The tumor cells had large cytoplasm without pigment, and some of them

had conspicuous nucleoli. They were arranged in intersecting fascicles, with striking fibrous

bundles weaving in between them. The mitotic rate was very low and atypical forms were not

observed. The differential diagnoses included melanocytic tumors and dermal clear cell

sarcoma. IHC-a demonstrated focal S100 and diffuse SOX10 positivity. Melan-A, HMB45,

PRAME, PANTRK, and BRAF-VE1 were negative. EWSR rearrangement was investigated

using a break-apart FISH probe and the results were negative. RNA sequencing using NGS

revealed a CRTC1::TRIMM11 translocation.


Conclusion

Dermal tumors with a differential diagnosis of clear cell sarcoma or metastatic melanoma with

SOX10 expression and negative EWSR rearrangement, should raise suspicion for

CRTC1::TRIMM11 cutaneous tumor. We believe that with increased awareness of this entity,

more cases will be identified, leading to the accumulation of demographic, histopathological,

and clinical data.