This Article Full Text Full Text (PDF) Purchase Article View Shopping Cart Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by McNairn, J. D. K. Articles by Shrimpton, A. E. Search for Related Content PubMed PubMed Citation Articles by McNairn, J. D. K. Articles by Shrimpton, A. E.

JMD 2001, Vol. 3, No. 4
Copyright © 2001 American Society for Investigative Pathology & Association for Molecular Pathology

Inheritance of Osteosarcoma and Paget’s Disease of Bone

A Familial Loss of Heterozygosity Study

Julie D. K. McNairn^*, Timothy A. Damron, Steve K. Landas^*, J. Lee Ambrose and Antony E. Shrimpton^*

From the Departments of Pathology, * Orthopedic Surgery, and Radiology, SUNY Upstate Medical University, Syracuse, New York

Pagetoid osteosarcoma is a complication of Paget’s disease of bone. Sarcomatous transformation is most often seen in severe, long-standing Paget’s disease. Familial clustering of Paget’s disease has been described with apparent autosomal dominant inheritance with high penetrance by the sixth decade. Although definitive proof of the specific gene involved remains elusive, some researchers have shown loss of heterozygosity in a region of chromosome 18q in a relatively high percentage of studied patients affected with either Paget’s disease alone, in Pagetoid osteosarcoma, and in uncomplicated osteosarcoma. Our patient was diagnosed with Pagetoid osteosarcoma and had a first-degree relative with history of the same. We hypothesized that our patient’s tumor samples might contain a similar genetic abnormality. Our analysis of several polymorphic markers from the chromosome 18q21–22 region showed loss of maternally inherited alleles throughout the region. This finding is similar to those described previously⁴ and provides further evidence of a susceptibility region relating to this disease. This report describes a father and son, their young ages at diagnosis of Pagetoid sarcoma, the identical sites of disease involvement, and a loss of heterozygosity study illustrating the inheritance of the presumed defective gene.

This article has been cited by other articles:

				R. L. Vessella, T. A. Guise, E. S. Susman, L. J. Suva, G. A. Clines, S. L. Kominsky, K. L. Weber, J. M. Chirgwin, L. K. McCauley, and W. Kozlow Meeting Report from Skeletal Complications of Malignancy IV: A symposium jointly sponsored by The Paget Foundation for Paget's Disease of Bone and Related Disorders, the National Cancer Institute, and the University of Virginia School of Medicine * April 28-30, 2005 in Bethesda, Maryland, USA IBMS BoneKEy, March 1, 2006; 3(3): 15 - 42. [Full Text] [PDF]