Summary
We have collected data on 111 cases of malignant tumors arising in patients with congenital, mostly hereditary bone dysplasias by means of a questionnaire.
In addition to such well-recognized associations as: chondrosarcoma in osteochondroma, sarcomas in fibrous dysplasia, chondrosarcoma in enchondromatoses, and chondrosarcoma in Maffucci syndrome, there were several combinations of tumor and bone dysplasia which have not been well documented. These combinations included three cases of osteosarcoma arising in osteogenesis imperfecta tarda, 3 cases of osteosarcoma in Rothmund-Thomson syndrome, a case of osteosarcoma and a case of chondrosarcoma in spondyloepiphyseal dysplasia tarda, 2 cases of lymphoma in metaphyseal chondrodysplasia, type McKusick, and a case of chondrosarcoma in Gardner syndrome.
While the coexistence of malignancy and bone dysplasia may in some combinations be only coincidental, in some other combinations, an interrelationship of the two conditions seems to be possible. The possibilities of such relationship are briefly discussed.
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Tsuruta, T., Ogihara, Y. Malignant tumors arising in patients with congenital bone diseases —Investigation by a questionnaire. Jap J Human Genet 29, 31–37 (1984). https://doi.org/10.1007/BF01876755
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DOI: https://doi.org/10.1007/BF01876755