Genetic Aberration and Pathological Diagnosis in Bone and Soft-Tissue Tumors

Kunio Iura, Yoshinao Oda

Research output: Contribution to journalArticle

Abstract

Bone and soft-tissue sarcomas comprise a rare, complex, and heterogeneous group of tumors for which it is difficult for even experienced pathologists to provide a conclusive diagnosis. The number of diagnoses made using genetic analysis has increased since the detection of fusion genes in several soft-tissue tumors in the 1990s. Moreover, other specific genetic aberrations have been reported in various bone and soft-tissue tumors. In addition, molecular therapeutic targets have been sought in advanced cases of soft-tissue and bone tumors similar to other organ malignancies. To enable the pathological diagnosis of bone and soft-tissue tumors, it is necessary to combine histological diagnosis with immunohistochemistry and gene analysis findings including fusion gene or other genetic aberrations. In this review, we describe the fusion genes recently reported in bone and soft-tissue tumors such as solitary fibrous tumor, aneurysmal bone cyst, nodular fasciitis, CIC-DUX4 fusion gene-positive small round cell tumors, or BCOR-CCNB3-positive sarcoma as well as other genetic aberrations in dedifferentiated liposarcoma, malignant rhabdoid tumor, cartilaginous tumor, Langerhans cell histiocytosis chondroblastoma, or giant cell tumor of the bone. We also demonstrate their association with pathological diagnosis.

Original languageEnglish
Pages (from-to)300-304
Number of pages5
JournalJapanese Journal of Cancer and Chemotherapy
Volume43
Issue number3
Publication statusPublished - Mar 1 2016

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Bone and Bones
Gene Fusion
Neoplasms
Sarcoma
Chondroblastoma
Rhabdoid Tumor
Solitary Fibrous Tumors
Giant Cell Tumor of Bone
Aneurysmal Bone Cysts
Fasciitis
Liposarcoma
Langerhans Cell Histiocytosis
Immunohistochemistry
Genes

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

Genetic Aberration and Pathological Diagnosis in Bone and Soft-Tissue Tumors. / Iura, Kunio; Oda, Yoshinao.

In: Japanese Journal of Cancer and Chemotherapy, Vol. 43, No. 3, 01.03.2016, p. 300-304.

Research output: Contribution to journalArticle

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