Clear cell sarcoma of soft tissue: diagnostic difficulties and molecular verification

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Abstract

Clear cell carcinoma of soft tissue is an ultrarare malignant tumor with melanocytic differentiations. It primarily affects distal parts of the limbs in young patients and is characterized by high metastatic potential and diagnostic complexity.

The article presents a clinical case of diagnosis and treatment of clear cell sarcoma of soft tissue of the foot in a 28-year-old male patient which demonstrates the importance of cancer alertness in evaluation of soft tissue neoplasms, necessity of histological examination of any neoplasms, and use of expanded immunohistochemical and molecular studies (PRAME, EWSR1::ATF1) for differential diagnosis of this pathology and melanoma.

About the authors

D. V. Bulanov

National Medical Research Center of Traumatology and Orthopedics named after N.N. Priorov, Ministry of Health of Russia; N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia

Email: dalgat2002@mail.ru
ORCID iD: 0009-0005-3772-6643
Russian Federation, 10 Priorova St., Moscow 127299; 1 Ostrovityanova St., Moscow 117513

Dalgat R. Makhachev

N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia

Author for correspondence.
Email: dalgat2002@mail.ru
ORCID iD: 0009-0007-0930-5272
Russian Federation, 1 Ostrovityanova St., Moscow 117513

V. Yu. Karpenko

National Medical Research Center of Traumatology and Orthopedics named after N.N. Priorov, Ministry of Health of Russia

Email: dalgat2002@mail.ru
ORCID iD: 0000-0002-8280-8163
Russian Federation, 10 Priorova St., Moscow 127299

S. Sh. Dzhabieva

N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia

Email: dalgat2002@mail.ru
ORCID iD: 0009-0003-5858-9831
Russian Federation, 1 Ostrovityanova St., Moscow 117513

A. A. Saidova

N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia

Email: dalgat2002@mail.ru
ORCID iD: 0009-0003-9229-7103
Russian Federation, 1 Ostrovityanova St., Moscow

K. A. Lokhankina

N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia

Email: dalgat2002@mail.ru
ORCID iD: 0009-0003-2496-8999
Russian Federation, 1 Ostrovityanova St., Moscow 117513

A. R. Selimova

N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia

Email: dalgat2002@mail.ru
ORCID iD: 0009-0006-3138-1397
Russian Federation, 1 Ostrovityanova St., Moscow 117513

Sh. M. Muslimov

N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia

Email: dalgat2002@mail.ru
ORCID iD: 0009-0005-8572-1054
Russian Federation, 1 Ostrovityanova St., Moscow 117513

A. M. Ocheretlova

N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia

Email: dalgat2002@mail.ru
ORCID iD: 0009-0002-6230-5902
Russian Federation, 1 Ostrovityanova St., Moscow 117513

L. M. Ibragimova

N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia

Email: dalgat2002@mail.ru
ORCID iD: 0009-0006-0694-176X
Russian Federation, 1 Ostrovityanova St., Moscow 117513

A. U. Sirozhova

N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia

Email: dalgat2002@mail.ru
ORCID iD: 0009-0001-3894-3157
Russian Federation, 1 Ostrovityanova St., Moscow 117513

Z. D. Dzhanboriev

Dagestan State Medical University, Ministry of Health of Russia

Email: dalgat2002@mail.ru
ORCID iD: 0009-0007-2520-624X
Russian Federation, 1 Lenina Square, Makhachkala 367000

References

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  10. Hornback C.J., Cintolo-Gonzalez J., LeBoit P.E. et al. Dermal cutaneous clear cell sarcoma defined by novel EWSR1-CREM fusion. JAAD Case Rep 2024;52:162–5. doi: 10.1016/j.jdcr.2024.06.026
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  12. Möller E., Praz V., Rajendran S. et al. EWSR1-ATF1 dependent 3D connectivity regulates oncogenic and differentiation programs in clear cell sarcoma. Nat Commun 2022;13(1):2267. doi: 10.1038/s41467-022-29910-4
  13. Davis I.J., Kim J.J., Ozsolak F. et al. Oncogenic MITF dysregulation in clear cell sarcoma: defining the MiT family of human cancers. Cancer Cell 2006;9(6):473–84. doi: 10.1016/j.ccr.2006.04.021

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