Chapter 26 - Molecular Pathology of Bone and Soft Tissue Tumors

Abstract

Molecular pathology is an essential component of the pathology of bone and soft tissue tumors. Although the diagnosis is largely based on clinical, histologic, and immunohistochemical features, molecular diagnosis is useful and sometimes necessary as an adjunct for diagnosis and prognostication, especially in morphologically or clinically unusual lesions. Bone and soft tissue tumors can be classified broadly into those neoplasms with complex and nonspecific cytogenetic and molecular genetic features and those harboring relatively simple cytogenetic profiles with consistent and recurrent genetic aberrations ( Table 26-1 ). In this chapter, we highlight the molecular features of various bone and soft tissue tumors, with special emphasis on molecular diagnosis. With well over 100 different neoplasms, it is beyond the scope of this chapter to comment on every entity. Instead, we focus on those neoplasms with diagnostic aberrations that are useful clinically or that provide interesting insights into pathogenesis. The 2002 World Health Organization Classification of Tumors of Bone and Soft Tissue is used.