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骨的良性软骨肿瘤:从形态学到体细胞和种系遗传学

Benign cartilaginous tumors of bone: from morphology to somatic and germ-line genetics.

作者信息

Romeo Salvatore, Hogendoorn Pancras C W, Dei Tos Angelo Paolo

机构信息

Department of Pathology, Treviso Regional Hospital, Treviso, Italy.

出版信息

Adv Anat Pathol. 2009 Sep;16(5):307-15. doi: 10.1097/PAP.0b013e3181b506a1.

Abstract

Benign cartilaginous tumors of bones, intrinsic to their name, are tumors forming cartilaginous matrix with a clinically benign behavior. In this group, we recognize osteochondromas, (en)chondromas, chondroblastomas, and chondromyxoid fibromas. This group includes common tumors, that is, osteochondroma and (en)chondroma as well as rare tumors such as chondroblastoma and chondromyxoid fibroma. Several benign and malignant tumors may mimic benign cartilaginous tumors of bones. We reviewed the main morphologic features and the differential diagnosis is discussed. The genetics of these tumors is intriguing ranging from single gene event (ie, EXT mutation in multiple osteochondromas) to heterogeneous rearrangements with no recurrent involved chromosomal regions such as in chondroblastoma. The main genetic findings are hereby reviewed.

摘要

骨的良性软骨肿瘤,顾名思义,是形成软骨基质且临床行为为良性的肿瘤。在这一组中,我们认识到骨软骨瘤、内生软骨瘤、软骨母细胞瘤和软骨黏液样纤维瘤。这一组包括常见肿瘤,即骨软骨瘤和内生软骨瘤,以及罕见肿瘤,如软骨母细胞瘤和软骨黏液样纤维瘤。几种良性和恶性肿瘤可能模仿骨的良性软骨肿瘤。我们回顾了主要形态学特征并讨论了鉴别诊断。这些肿瘤的遗传学很有趣,从单基因事件(如多发性骨软骨瘤中的EXT突变)到无复发性受累染色体区域的异质性重排,如软骨母细胞瘤。在此回顾主要的遗传学发现。

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