nach oben

Virchows Archiv

Erschienen in:

01.05.2004 | Case Report

Osteosarcoma occurring in osteogenesis imperfecta

verfasst von: Shu Takahashi, Kyoji Okada, Hiroyuki Nagasawa, Yoichi Shimada, Hitoshi Sakamoto, Eiji Itoi

Erschienen in: Virchows Archiv | Ausgabe 5/2004

Einloggen, um Zugang zu erhalten

Abstract

We describe a case history of a 24-year-old male with osteogenesis imperfecta (OI) who developed osteosarcoma of the left thigh. High-dose ifosfamide therapy caused marked tumor regression of multiple lung metastases. Immunohistochemically, the tumor cells were diffusely positive for the p53 protein. Mutation of the p53 gene was not detected by direct genomic sequencing of exons 4–8. The radiographic characteristics, including irregularly distributed osteolytic lesions and cortical discontinuity, should not be confused with hyperplastic callus formation, a benign process. A biopsy is critical to establish the differential diagnosis between osteosarcoma and common hyperplastic callus formation in OI; however, it must be applied with great care.

Andreassen A, Oyjord T, Hovig E, Holm R, Florenes VA (1993) p53 abnormalities in different subtypes of human sarcomas. Cancer Res 53:468–471PubMed

Bedi HS, Kaufman DV, Choong PF, Slavin JL (1999) Osteosarcoma of the scapula arising in osteogenesis imperfecta. Pathology 31:52–54PubMed

Dorfman HD, Czerniak B (1998) Reactive and natabolic conditions simulating neoplasm of bone. Bone tumors. Mosby, Missouri, pp 1120–1194

Feugeas O, Guriec N, Babin-Boilletot A, Marcellin L, Simon P (1996) Loss of heterozygosity of the RB gene is a poor prognostic factor in patients with osteosarcoma. J Clin Oncol 14:467–472PubMed

Gagliardi JA, Evans EM, Chandnani VP, Myers JB, Pacheco CM (1995) Osteogenesis imperfecta complicated by osteosarcoma. Skeletal Radiol 24:308–310PubMed

Greenblatt MS, Bennett WP, Hollstein M, Harris CC (1994) Mutations in the p53 tumor suppressor gene: clues to cancer etiology and molecular pathogenesis. Cancer Res 54:4855–4878PubMed

Hall PA, Lane DP (1994) p53 in tumour pathology: can we trust immunohistochemistry?—Revisited! J Pathol 172:1–4

Jewell FC (1940) Osteogenic sarcoma occurring in fragilitas ossium. Radiology 34:741–743

Klenerman L, Ockenden BG, Townsend AC (1967) Osteosarcoma occurring in osteogenesis imperfecta. Report of two cases. J Bone Joint Surg 49:314–323

10.

Lasson U, Harms D, Wiedemann HR (1978) Osteogenic sarcoma complicating osteogenesis imperfecta tarda. Eur J Pediatr 129:215–218PubMed

11.

Maiya S, Grimer RJ, Ramaswamy R, Deshmukh NS (2002) Osteosarcoma occurring in osteogenesis imperfecta tarda. Int Orthop 26:126–128CrossRefPubMed

12.

Miller CW, Aslo A, Tsay C, Slamon D, Ishizaki K (1990) Frequency and structure of p53 rearrangements in human osteosarcoma. Cancer Res 50:7950–7954PubMed

13.

Miller CW, Aslo A, Campbell MJ, Kawamata N, Lampkin BC (1996) Alterations of the p15, p16, and p18 genes in osteosarcoma. Cancer Genet Cytogenet 86:136–142CrossRefPubMed

14.

Miller CW, Aslo A, Won A, Tan M, Lampkin B (1996) Alterations of the p53, Rb and MDM 2 genes in osteosarcoma. J Cancer Res Clin Oncol 122:559–565PubMed

15.

Mousses S, McAuley L, Bell RS, Kandel R, Andrulis IL (1996) Molecular and immunohistochemical identification of p53 alterations in bone and soft tissue sarcomas. Mod Pathol 9:1–6PubMed

16.

Pompetti F, Rizzo P, Simon RM, Freidlin B, Mew DJ (1996) Oncogene alterations in primary, recurrent, and metastatic human bone tumors. J Cell Biochem 63:37–50CrossRefPubMed

17.

Pritchard DJ, Finkel MP, Reilly CA Jr (1975) The etiology of osteosarcoma. A review of current considerations. Clin Orthop 111:14–22PubMed

18.

Reid BS, Hubbard JD (1979) Osteosarcoma arising in osteogenesis imperfecta. Pediatr Radiol 8:110–112PubMed

19.

Rutkowski R, Resnick P, McMaster JH (1979) Osteosarcoma occurring in osteogenesis imperfecta. A case report. J Bone Joint Surg Am 61:606–608PubMed

20.

Toguchida J, Yamaguchi T, Ritchie B, Beauchamp RL, Dayton SH (1992) Mutation spectrum of the p53 gene in bone and soft tissue sarcomas. Cancer Res 52:6194–6199PubMed

21.

Unni KK (1996) Conditions that commonly simulate primary neoplasm of bone. Dahlin’s bone tumors: general aspects and data on 11087 cases, 5th edn. Lippincott-Raven, New York, pp 355–432

Titel: Osteosarcoma occurring in osteogenesis imperfecta
verfasst von: Shu Takahashi
Kyoji Okada
Hiroyuki Nagasawa
Yoichi Shimada
Hitoshi Sakamoto
Eiji Itoi
Publikationsdatum: 01.05.2004
Verlag: Springer-Verlag
Erschienen in: Virchows Archiv / Ausgabe 5/2004
Print ISSN: 0945-6317
Elektronische ISSN: 1432-2307
DOI: https://doi.org/10.1007/s00428-004-0985-5

Springer Medizin

Osteosarcoma occurring in osteogenesis imperfecta

Abstract

Neu im Fachgebiet Pathologie

Molekularpathologische Untersuchungen im Wandel der Zeit

Vergleichende Pathologie in der onkologischen Forschung

Gastrointestinale Stromatumoren

Personalisierte Medizin in der Onkologie

Springer Medizin

Abstract

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Weitere Artikel der Ausgabe 5/2004

Lymphoepithelioma-like carcinoma of the bladder: three cases with clinicopathological and p53 protein expression study

Tumor with features of renal cell carcinoma and of transitional cell carcinoma

Mucinous non-neoplastic cyst of the pancreas accompanied by non-parasitic asymptomatic liver cysts

Diagnostic telepathology: long-term experience of a single institution

Immunohistochemical analysis of pro- and active-caspase 3 in laryngeal squamous cell carcinoma

May 2004

Neu im Fachgebiet Pathologie

Molekularpathologische Untersuchungen im Wandel der Zeit

Vergleichende Pathologie in der onkologischen Forschung

Gastrointestinale Stromatumoren

Personalisierte Medizin in der Onkologie