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Ann Surg Oncol (2010) 17:668669 DOI 10.1245/s10434-009-0844-3
EDITORIAL
The Marriage Between Pathology and Genetics: Are We Ready for Clinical Use?
Angelo P. Dei Tos, MD
Departments of Pathology and Oncology, General Hospital of Treviso, Treviso, Italy
The integration of cytogenetics and molecular genetics into the histopathologic evaluation of soft tissue tumors has certainly represented one of the major advances of the last decade.1 It has not only served as both a validation and a renement of available classication schemes but has also offered new diagnostic tools that have led to signicant improvement of diagnostic accuracy. Among mesenchymal neoplasms, adipocytic tumor certainly represents an ideal model of such integration. In fact, with the notable exception of angiolipoma, most benign and malignant adipocytic tumors harbor distinctive genetic aberration that parallels their histomorphology. This has also proved true for adipocytic malignancies. Liposarcoma is currently subclassied genetically into three broad categories: (1) well-differentiated (WD) liposarcoma/atypical lipomatous tumors (ALT) and dedifferentiated liposarcoma featuring aberrations of the 12q1315 chromosome region; (2) myxoid/round cell liposarcoma harboring a t(12;16) or more rarely a t(12;22) reciprocal translocation, leading to fusion of DDIT3 and FUS genes (95% of cases) or DDIT3 and EWS genes (5% of cases), respectively; and (3) pleomorphic liposarcoma showing (similarly to other pleomorphic sarcomas) complex karyotypic aberrations.
With the advent (or the development) of more selective, histotype-related, systemic treatments, accurate diagnosis of mesenchymal tumors has become mandatory, as it not only provides fundamental prognostic information but also tends to determine treatment options.2,3 In the current issue of Annals of Surgical Oncology both the diagnostic and clinical impact of genetic observation is addressed by de Vreeze et al.4
The diagnostic application of 12q1315 aberration in the differential diagnosis of well-differentiated/dedifferentiated...