Osteogenic sarcoma complicating osteogenesis imperfecta tarda

Abstract

We describe the case history of a 13 years old boy who developed osteogenic sarcoma of the left thigh, six years after diagnosis of osteogenesis imperfecta tarda with a positive family history. Only four other patients with this disease combination are reported in the literature. Preoperative treatment with high-dose Methotrexate caused marked tumor regression, as shown at examination of amputation material. The inter-relationships between the two disorders are discussed and the literature is briefly reviewed.

Osteosarcoma occurring in osteogenesis imperfecta

“…There have been only nine reported cases in the world literature (Table 1) [2,5,8,9,10,11,18,19], and most authors concluded that osteosarcoma in the setting of OI occurred as a sporadic, rather than a related, event. More important, however, is the fact that osteosarcoma is difficult to diagnose in patients with OI, which was Factors that have been proposed as possible etiological agents in primary bone tumors are radiation, viruses, chemical carcinogens, metal implants, and trauma [17].…”

Malignant tumors arising in patients with congenital bone diseases —Investigation by a questionnaire

“…Three cases listed in Tables 1 and 2 were informed by Prof. Spranger and these consisted of the cases reported by Lasson et al (1978) and Rutkowski et al (1979), and one case from Dr. Dahlin. From the orthopaedic clinics in Japan, no case was cited.…”

“…Since then, several cases have been reported in the literature (Roschlau, 1962;Klenerman et al, 1967;Lasson et al, 1978;Rutkowski et al, 1979;Reid and Hubbard, 1979). Rutkowski reported a 15-year-old boy and stated that osteosarcoma was extremely rare in association with osteogenesis imperfecta tarda, and that only 8 cases have been reported in the literature.…”

“…Klenerman et aL (1967) reported two girls with osteosarcoma in osteogenesis imperfecta tarda and suggested that the tumors arose spontaneously and were not related to the underlying bone disorder. Lasson et al (1978) also stated that both disorders were rare, so the question of a more than coincidental occurrence cannot be answered. They suggested that the number of osteosarcoma cases might be much higher if multiple fractures and/or metallic foreign bodies for the treatment of fractures played an etiologic role in tumor generation in patients with osteogenesis imperfecta tarda.…”

Osteogenesis imperfecta and hyperplastic callus formation in a family: a report of three cases and a review of the literature

“…At this moment, however, little is known about the condition. The imaging and histological similarity of this hyperplastic callus formation to an osteogenic sarcoma raises great concern among orthopedic surgeons [2][3][4]7,9,10,12,14,[16][17][18][19][20][21][22][23][24][25]. The imaging and histological similarity of this hyperplastic callus formation to an osteogenic sarcoma raises great concern among orthopedic surgeons [2][3][4]7,9,10,12,14,[16][17][18][19][20][21][22][23][24][25].…”