Benign cartilaginous tumors of bone: from morphology to somatic and germ-line genetics.
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.
Romeo
Salvatore
S
Department of Pathology, Treviso Regional Hospital, Treviso, Italy.
Hogendoorn
Pancras C W
PC
Dei Tos
Angelo Paolo
AP
D000293:Adolescent; D000328:Adult; D001859:Bone Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D002356:Cartilage / Q000000981:diagnostic imaging / Q000473:pathology*; D002648:Child; D002804:Chondroblastoma / Q000235:genetics / Q000473:pathology; D002812:Chondroma / Q000235:genetics / Q000473:pathology; D003937:Diagnosis, Differential; D005260:Female; D005350:Fibroma / Q000235:genetics / Q000473:pathology; D018095:Germ-Line Mutation; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008565:Membrane Proteins / Q000032:analysis / Q000235:genetics / Q000378:metabolism; D008875:Middle Aged; D017351:N-Acetylglucosaminyltransferases / Q000032:analysis / Q000235:genetics / Q000378:metabolism; D015831:Osteochondroma / Q000235:genetics / Q000473:pathology; D011859:Radiography; D014178:Translocation, Genetic
D008565:Membrane Proteins; C110834:EXTL2 protein, human; D017351:N-Acetylglucosaminyltransferases