Epithelioid sarcoma with retained INI1 expression as a cause of a chronic leg ulcer

. 2022 ; 10 () : 2050313X221106259. [epub] 20220624

Status PubMed-not-MEDLINE Jazyk angličtina Země Anglie, Velká Británie Médium electronic-ecollection

Typ dokumentu kazuistiky, časopisecké články

Perzistentní odkaz   https://www.medvik.cz/link/pmid35783671
Odkazy

PubMed 35783671
PubMed Central PMC9248042
DOI 10.1177/2050313x221106259
PII: 10.1177_2050313X221106259
Knihovny.cz E-zdroje

Epithelioid sarcoma is a rare soft-tissue sarcoma typically presenting itself as a subcutaneous or deep dermal mass in distal portions of the extremities of adolescents and young adults. They are frequently mistaken for ulcers, abscesses, or infected warts resistant to standard medical treatment. Patients often develop multiple local recurrences with subsequent metastases. We report a case of a 66-year-old patient with chronic leg ulcer who died of generalization of an epithelioid sarcoma.

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Enzinger FM. Epitheloid sarcoma. A sarcoma simulating a granuloma or a carcinoma. Cancer 1970; 26: 1029–1041. PubMed

Frezza AM, Sbaraglia M, Lo Vullo S, et al.. The natural history of epithelioid sarcoma. A retrospective multicentre case-series within the Italian Sarcoma Group. Eur J Surg Oncol 2020; 46(7): 1320–1326. PubMed

Rajeev LK, Asati V, Babu S, et al.. Epithelioid sarcoma presenting as recurrent thumb ulcer: a lesson to learn. Indian J Surg Oncol 2018; 9(2): 251–253. PubMed PMC

Korber A, Jockenhofer F, Sondermann W, et al.. [First manifestation of leg ulcers: analysis of data from 1000 patients]. Hautarzt 2017; 68(6): 483–491. PubMed

Ghasemi F, Anooshirvani N, Sibbald RG, et al.. The point prevalence of malignancy in a wound clinic. Int J Low Extrem Wounds 2016; 15(1): 58–62. PubMed

Misciali C, Dika E, Fanti PA, et al.. Frequency of malignant neoplasms in 257 chronic leg ulcers. Dermatol Surg 2013; 39: 849–854. PubMed

Senet P, Combemale P, Debure C, et al.. Malignancy and chronic leg ulcers: the value of systematic wound biopsies: a prospective, multicenter, cross-sectional study. Arch Dermatol 2012; 148(6): 704–708. PubMed

Hansson C, Andersson E. Malignant skin lesions on the legs and feet at a dermatological leg ulcer clinic during five years. Acta Derm Venereol 1998; 78(2): 147–148. PubMed

Toussaint F, Erdmann M, Berking C, et al.. Malignant tumours presenting as chronic leg or foot ulcers. J Clin Med 2021; 10: 2251. PubMed PMC

Garbea A, Dippel E, Hildenbrand R, et al.. Cutaneous large B-cell lymphoma of the leg masquerading as a chronic venous ulcer. Br J Dermatol 2002; 146(1): 144–147. PubMed

Caminiti M, Clerici G, Quarantiello A, et al.. Kaposi’s sarcoma misdiagnosed as a diabetic plantar foot ulcer. Int J Low Extrem Wounds 2009; 8(2): 120–122. PubMed

Erfurt-Berge C, Erdmann M, Brauner K, et al.. Eccrine porocarcinoma mimicking a venous leg ulcer. Int Wound J 2016; 13(5): 1063–1064. PubMed PMC

Dundr P, Gregova M, Hojny J, et al.. Uterine cellular leiomyomas are characterized by common HMGA2 aberrations, followed by chromosome 1p deletion and MED12 mutation: morphological, molecular, and immunohistochemical study of 52 cases. Virchows Arch 2022; 480(2): 281–291. PubMed

Cheng DT, Mitchell TN, Zehir A, et al.. Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets (MSK-IMPACT): a hybridization capture-based next-generation sequencing clinical assay for solid tumor molecular oncology. J Mol Diagn 2015; 17(3): 251–264. PubMed PMC

Fisher C. Epithelioid sarcoma: the spectrum of ultrastructural differentiation in seven immunohistochemically defined cases. Hum Pathol 1988; 19(3): 265–275. PubMed

Goldblum J, Weiss S, Folpe AL. Enzinger and Weiss’s soft tissue tumors. Amsterdam: Elsevier, 2019.

Miettinen M, Fetsch JF, Antonescu CR, et al.. Tumors of the soft tissues (AFIP Atlas of Tumor Pathology, Series 4). Arlington, VA: American Registry of Pathology, 2014.

Requena L, Kautzner H. Cutaneous soft tissue tumors. Philadelphia, PA: Wolters Kluwer, 2014.

Stockman DL, Hornick JL, Deavers MT, et al.. ERG and FLI1 protein expression in epithelioid sarcoma. Mod Pathol 2014; 27(4): 496–501. PubMed

Schaefer IM, Dong F, Garcia EP, et al.. Recurrent SMARCB1 inactivation in epithelioid malignant peripheral nerve sheath tumors. Am J Surg Pathol 2019; 43(6): 835–843. PubMed PMC

Hornick JL, Dal Cin P, Fletcher CD. Loss of INI1 expression is characteristic of both conventional and proximal-type epithelioid sarcoma. Am J Surg Pathol 2009; 33(4): 542–550. PubMed

Racanelli D, Brenca M, Baldazzi D, et al.. Next-generation sequencing approaches for the identification of pathognomonic fusion transcripts in sarcomas: the experience of the Italian ACC Sarcoma Working Group. Frontiers in Oncology 2020; 10: 489. PubMed PMC

Song L, Stashek KM, Benyounes A, et al.. Epithelioid sarcoma with retained INI1 (SMARCB1) expression. Histopathology 2021; 78(3): 464–466. PubMed

Jones RL, Constantinidou A, Olmos D, et al.. Role of palliative chemotherapy in advanced epithelioid sarcoma. Am J Clin Oncol 2012; 35(4): 351–357. PubMed

Pink D, Richter S, Gerdes S, et al.. Gemcitabine and docetaxel for epithelioid sarcoma: results from a retrospective, multi-institutional analysis. Oncology 2014; 87(2): 95–103. PubMed

Gounder M, Schoffski P, Jones RL, et al.. Tazemetostat in advanced epithelioid sarcoma with loss of INI1/SMARCB1: an international, open-label, phase 2 basket study. Lancet Oncol 2020; 21(11): 1423–1432. PubMed

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