title: Osteosarcoma associated with absent thumbs: a report of two cases.
abstract: An 8-year-old Hispanic boy with a hypoplastic left thumb, absent right thumb, and short stature experienced right leg pain and limp. A right tibial lesion was imaged and found to be osteosarcoma on biopsy. A 6-year-old Hispanic girl with congenitally absent thumbs experienced a pathologic fracture of her left femur after a minor sports injury. The radiologic abnormality seen was diagnosed as osteosarcoma on biopsy. Both patients continue to do well after intensive preoperative and postoperative high-dose chemotherapy and definitive reconstructive limb surgery. Osteosarcoma has been linked to several congenital syndromes in which absent thumbs are a feature. These two patients with absent thumbs and no definable syndrome experiencing osteosarcoma suggest that congenitally absent thumbs might be a risk factor for osteosarcoma in the absence of a syndrome.
authors.affiliation: Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, New York 10021, USA.
authors.forename: L
authors.initials: L
authors.lastname: Orme
authors.forename: R
authors.initials: R
authors.lastname: Gorlick
authors.forename: P A
authors.initials: PA
authors.lastname: Meyers
authors.forename: E
authors.initials: E
authors.lastname: Athanasian
authors.forename: A G
authors.initials: AG
authors.lastname: Huvos
mesh_terms: D001859:Bone Neoplasms / Q000209:etiology; D002648:Child; D005260:Female; D006228:Hand Deformities, Congenital / Q000209:etiology; D006801:Humans; D008297:Male; D012516:Osteosarcoma / Q000209:etiology; D012307:Risk Factors; D013933:Thumb / Q000002:abnormalities*