Pathology and genetics of tumors of soft tissue and bone

Multiple osteochondromas (MO) is characterised by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones. The prevalence is estimated at 1:50,000, and it seems to be higher in males (male-to-female ratio 1.5:1). Osteochondromas develop and increase in size in the first decade of life, ceasing to grow when the growth plates close at puberty. They are pedunculated or sessile (broad base) and can vary widely in size. The number of osteochondromas may vary significantly within and between families, the mean number of locations is 15–18. The majority are asymptomatic and located in bones that develop from cartilage, especially the long bones of the extremities, predominantly around the knee. The facial bones are not affected. Osteochondromas may cause pain, functional problems and deformities, especially of the forearm, that may be reason for surgical removal. The most important complication is malignant transformation of osteochondroma towards secondary peripheral chondrosarcoma, which is estimated to occur in 0.5–5%. MO is an autosomal dominant disorder and is genetically heterogeneous. In almost 90% of MO patients germline mutations in the tumour suppressor genes EXT1 or EXT2 are found. The EXT genes encode glycosyltransferases, catalyzing heparan sulphate polymerization. The diagnosis is based on radiological and clinical documentation, supplemented with, if available, histological evaluation of osteochondromas. If the exact mutation is known antenatal diagnosis is technically possible. MO should be distinguished from metachondromatosis, dysplasia epiphysealis hemimelica and Ollier disease. Osteochondromas are benign lesions and do not affect life expectancy. Management includes removal of osteochondromas when they give complaints. Removed osteochondromas should be examined for malignant transformation towards secondary peripheral chondrosarcoma. Patients should be well instructed and regular follow-up for early detection of malignancy seems justified. For secondary peripheral chondrosarcoma, en-bloc resection of the lesion and its pseudocapsule with tumour-free margins, preferably in a bone tumour referral centre, should be performed.

/pdf/multiple-osteochondromas-hr4b1l18fo.pdf

Multiple osteochondromas

Updates on the cytogenetics and molecular genetics of bone and soft tissue tumors: Chondrosarcoma and other cartilaginous neoplasms

Chondrosarcoma is a malignant cartilage-forming tumour of bone, of which distinct clinicopathological subtypes are known. Conventional chondrosarcoma is notorious for its locally aggressive behaviour as well as for its resistance to chemotherapy and radiotherapy; so far surgery is the only effective therapeutic option. During the past 10 years, substantial new insights have been gained about molecular cell biology, molecular cytogenetics, and immunopathology, leading to better understanding of chondrosarcoma development at the molecular level, which will ultimately lead to better clinical understanding and possibly to the development of targeted treatment.

https://www.thelancet.com/pdfs/journals/lanonc/PIIS1470-2045(05)70282-5.pdf

Emerging pathways in the development of chondrosarcoma of bone and implications for targeted treatment

Updates on the cytogenetics and molecular genetics of bone and soft tissue tumors: clear cell sarcoma (malignant melanoma of soft parts).

Extra Copies of Chromosomes 7, 8, 12, 19, and 21 are Recurrent in Adamantinoma

Cytogenetic and molecular cytogenetic evidence of recurrent 8q24.1 loss in osteochondroma.

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Extra Copies of Chromosomes 7, 8, 12, 19, and 21 are Recurrent in Adamantinoma

Cytogenetic and molecular cytogenetic evidence of recurrent 8q24.1 loss in osteochondroma.