Mojca Velikonja Jože Pižem
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1 Mojca Velikonja Jože Pižem
2 An 81-year old woman presented with an exophytic, wart-like skin lesion on her neck that she had observed for one year. Cryotherapy had been applied twice, but proved unsuccessful. At surgical removal, the tumor measured 1.7 cm. It appeared dirty brown and had an ulcerated surface.
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13 Merkel cell carcinoma
14 CK20
15 Lymphoma
16 CD45
17 Melanoma
18 S-100
19 Melan-A
20 Ewing sarcoma/pnet
21 CD99
22 Metastatic neuroendocrine carcinoma
23 Chromogranin
24 CD56
25 Poorly differentiated carcinoma
26 CK AE1/AE3
27 CK MNF116
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29 Myogenin
30 Desmin
31 MSA
32 Cutaneous alveolar rhabdomyosarcoma, solid variant
33 DEFINITION (WHO) A primitive, malignant soft tissue sarcoma that recapitulates the phenotypic and biological features of embryonic skeletal muscles.
34 CLASSIFICATION Modified conventional (Horn and Enterline) classification used by intergroup rhabdomyosarcoma studies I and II International Society for Pediatric Oncology (SIOP) classification of rhabdomyosarcoma National Cancer Institute (NCI) classification of rhabdomyosarcoma International classification of rhabdomyosarcoma (ICR)
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36 GENERAL FACTS adults < 1% primary cutaneous rhabdomyosarcoma < 1% bimodal age distribution M:F = 1:1
37 IMMUNOHISTOCHEMISTRY myogenin (Myf-4) desmin muscle-specific actin (HHF35) sarcomeric α-actin myoglobin MyoD1
38 IMMUNOHISTOCHEMISTRY CD56 panck (CAM 5.2, synaptophysin CK AE1/AE3, MAK6) EMA calponin CD57 NSE vimentin CD99 S-100
39 ARMS TRANSLOCATION t(2;13), PAX3-FOXO1 ~ 55% t(1;13), PAX7-FOXO1 ~ 20%
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41 ARMS TRANSLOCATION t(2;13), PAX3-FOXO1 ~ 55% t(1;13), PAX7-FOXO1 ~ 20% no translocation ~ 25%
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43 MOLECULAR CLASSES embryonal (ERMS) alveolar fusion gene-negative (narms) alveolar fusion gene-positive (parms)
44 PROGNOSIS botryoid rhabdomyosarcoma: 95% spindle cell rhabdomyosarcoma: 88% embryonal rhabdomyosarcoma: 66% alveolar rhabdomyosarcoma: 54%
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47 HOW ABOUT OUR PATIENT? diagnosed October 2010 June 2011 metastases: left cervical and supraclavicular lymph nodes July 2011: palliative radiation therapy metastases: lymph nodes (right cervical, upper mediastinum, aortic arch), lungs, soft tissues paravertebrally died August 2011: metastatic disease, acute respiratory distress, acute kidney failure
48 TAKE HOME MESSAGES 1. Consider a rhabdomyosarcoma in differential diagnosis of cutaneous small round blue cell tumors. 2. Be aware of misleading immunohistochemistry. 3. The most sensitive and specific markers are myogenin and desmin.
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50 REFERENCES TB Marburger, JM Gardner, VG Prieto et al: Primary cutaneous rhabdomyosarcoma: a clinicopathologic review of 11 cases. J Cutan Pathol, 2012: 1-9. J Setterfield, R Sciot, M Debiec-Rychter et al: Primary cutaneous epidermotropic alveolar rhabdomyosarcoma with t(2;13) in an elderly woman. J Surg Pathol, 2002: AF Nascimento: Rhabdomyosarcomas in adults: classification and differential diagnosis. Diagn Histopathol, 2008: B Cobanoglu, B Kandi, I Okur: Primary cutaneous rhabdomyosarcoma in an adult. Dermatol Surg, 2009: N Nakagawa, T Tsuda, M Yamamoto, et al: Adult cutaneous alveolar rhabdomyosarcom on the face diagnosed by the expression of PAX3-FKHR gene fusion transcripts. J Dermatol, 2008: SW Weiss, JR Goldblum: Soft tissue tumors, 2008: T Yasuda, KD Perry, M Nelson et al: Alveolar rhabdomyosarcoma of the head and neck region in older adults: genetic characterization and a review of the literature. Hum Pathol, 2009: E Davicioni, FG Finckenstein, V Shahbazian et al: Identification of a PAX-FKHR gene expression signature that defines molecular classes and determines the prognosis of alveolar rhabdomyosarcomas. Cancer Res, 2006: J Liu, MA Guzman, D Pezanowski et al: FOX01-FGFR1 fusion and amplification in a solid variant of alveolar rhabdomyosarcoma. Modern Pathol, 2011: J Sumegi, R Streblow, RW Frayer et al: Recurrent t(2;) and t(2;8) translocations in rhabdomyosarcoma without the canonical PAX-FOXo1 fuse PAX3 to members of the nuclear receptor transcriptional coactivator family. Gene Chromosome Canc, 2010: E Davicioni, MJ Anderson, FG Finckenstein et al: Molecular classification of rhabdomyosarcoma: genotypic and phenotypic determinants od diagnosis. Am J Pathol, 2009: L Lima de Lima, PM Rodrigues Pereira, WL Tupinamba et al: Primary cutaneous alveolar rhabdomyosarcoma in a pediatric patient. An Bras Dermatol, 2011: CDM Fletcher, KK Unni, F Mertens: World Health Organization classification of tumors, Tumors of soft tissue and bone. 2002:
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