The impact of advances in molecular genetic pathology on the classification, diagnosis and treatment of selected soft tissue tumors of the head and neck

Head and Neck Pathology

Volumn 4, Issue 1, 2010, Pages 70-76

  García, Joaquín J ^a   Folpe, Andrew L ^a  

^a MAYO CLINIC   (United States)

Author keywords

Angiomatoid; Dermatofibrosarcoma; Fibromyxoid; Molecular genetics; Sarcoma

Indexed keywords

TUMOR MARKER;

CLASSIFICATION; DERMATOFIBROMA; DERMATOFIBROSARCOMA PROTUBERANS; FEMALE; GENETICS; HEAD AND NECK TUMOR; HEMANGIOMATOSIS; HUMAN; METABOLISM; MOLECULAR PATHOLOGY; PATHOLOGY; REVIEW; SOFT TISSUE TUMOR;

ANGIOMATOSIS; DERMATOFIBROSARCOMA; FEMALE; HEAD AND NECK NEOPLASMS; HISTIOCYTOMA, BENIGN FIBROUS; HUMANS; PATHOLOGY, MOLECULAR; SOFT TISSUE NEOPLASMS; TUMOR MARKERS, BIOLOGICAL;

EID: 77952884015     PISSN: 1936055X     EISSN: 19360568     Source Type: Journal    
DOI: 10.1007/s12105-009-0160-z     Document Type: Review

References (22)

1. Evans HL. Low-grade fibromyxoid sarcoma. A report of two metastasizing neoplasms having a deceptively benign appearance. Am J Clin Pathol. 1987; 88(5): 615-9.
2. Folpe AL, et al. Low-grade fibromyxoid sarcoma and hyalinizing spindle cell tumor with giant rosettes: a clinicopathologic study of 73 cases supporting their identity and assessing the impact of high-grade areas. Am J Surg Pathol. 2000; 24(10): 1353-60.
3. Guillou L, et al. Translocation-positive low-grade fibromyxoid sarcoma: clinicopathologic and molecular analysis of a series expanding the morphologic spectrum and suggesting potential relationship to sclerosing epithelioid fibrosarcoma: a study from the French Sarcoma Group. Am J Surg Pathol. 2007; 31(9): 1387-402.
4. Panagopoulos I, et al. Characterization of the native CREB3L2 transcription factor and the FUS/CREB3L2 chimera. Genes Chromosomes Cancer. 2007; 46(2): 181-91.
5. Matsuyama A, et al. Molecular detection of FUS-CREB3L2 fusion transcripts in low-grade fibromyxoid sarcoma using formalin-fixed, paraffin-embedded tissue specimens. Am J Surg Pathol. 2006; 30(9): 1077-84.
6. Mertens F, et al. Clinicopathologic and molecular genetic characterization of low-grade fibromyxoid sarcoma, and cloning of a novel FUS/CREB3L1 fusion gene. Lab Invest. 2005; 85(3): 408-15.
7. Panagopoulos I, et al. The chimeric FUS/CREB3l2 gene is specific for low-grade fibromyxoid sarcoma. Genes Chromosomes Cancer. 2004; 40(3): 218-28.
8. Storlazzi CT, et al. Fusion of the FUS and BBF2H7 genes in low grade fibromyxoid sarcoma. Hum Mol Genet. 2003; 12(18): 2349-58.
9. Enzinger FM. Angiomatoid malignant fibrous histiocytoma: a distinct fibrohistiocytic tumor of children and young adults simulating a vascular neoplasm. Cancer. 1979; 44(6): 2147-57.
10. Fanburg-Smith JC, Miettinen M. Angiomatoid "malignant" fibrous histiocytoma: a clinicopathologic study of 158 cases and further exploration of the myoid phenotype. Hum Pathol. 1999; 30(11): 1336-43.
11. Waters BL, Panagopoulos I, Allen EF. Genetic characterization of angiomatoid fibrous histiocytoma identifies fusion of the FUS and ATF-1 genes induced by a chromosomal translocation involving bands 12q13 and 16p11. Cancer Genet Cytogenet. 2000; 121(2): 109-16.
12. Antonescu CR, et al. EWSR1-CREB1 is the predominant gene fusion in angiomatoid fibrous histiocytoma. Genes. Chromosomes Cancer. 2007; 46(12): 1051-60.
13. Rossi S, et al. EWSR1-CREB1 and EWSR1-ATF1 fusion genes in angiomatoid fibrous histiocytoma. Clin Cancer Res. 2007; 13(24): 7322-8.
14. Antonescu CR, et al. Molecular diagnosis of clear cell sarcoma: detection of EWS-ATF1 and MITF-M transcripts and histopathological and ultrastructural analysis of 12 cases. J Mol Diagn. 2002; 4(1): 44-52.
15. Antonescu CR, et al. EWS-CREB1: a recurrent variant fusion in clear cell sarcoma-association with gastrointestinal location and absence of melanocytic differentiation. Clin Cancer Res. 2006; 12(18): 5356-62.
16. Billings SD, Folpe AL. Cutaneous and subcutaneous fibrohistiocytic tumors of intermediate malignancy: an update. Am J Dermatopathol. 2004; 26(2): 141-55.
17. Abbott JJ, Oliveira AM, Nascimento AG. The prognostic significance of fibrosarcomatous transformation in dermatofibrosarcoma protuberans. Am J Surg Pathol. 2006; 30(4): 436-43.
18. Sirvent N, Maire G, Pedeutour F. Genetics of dermatofibrosarcoma protuberans family of tumors: from ring chromosomes to tyrosine kinase inhibitor treatment. Genes Chromosomes Cancer. 2003; 37(1): 1-19.
19. Dal Cin P, et al. Cytogenetic and immunohistochemical evidence that giant cell fibroblastoma is related to dermatofibrosarcoma protuberans. Genes Chromosomes Cancer. 1996; 15(1): 73-5.
20. Simon MP, et al. Deregulation of the platelet-derived growth factor B-chain gene via fusion with collagen gene COL1A1 in dermatofibrosarcoma protuberans and giant-cell fibroblastoma. Nat Genet. 1997; 15(1): 95-8.
21. Maki RG, et al. Differential sensitivity to imatinib of 2 patients with metastatic sarcoma arising from dermatofibrosarcoma protuberans. Int J Cancer. 2002; 100(6): 623-6.
22. Labropoulos SV, et al. Sustained complete remission of metastatic dermatofibrosarcoma protuberans with imatinib mesylate. Anti-Cancer Drugs. 2005; 16(4): 461-6.