Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

Bone: Fibrous dysplasia of the bone

Identity

Note In the major text-books on bone pathology, fibrous dysplasia (FD) is regarded as a non-neoplastic process. It is included in the chapter on "conditions that simulate a bone neoplasm" and it is defined elsewhere as a dysplastic disorder of bone.

Clinics and Pathology

Etiology Unknown
Clinics
  • It is characterized by a broad clinical spectrum, varying from the more frequent solitary (monostatic) asymptomatic lesion to extensive and severe multifocal (polyostatic) lesions. The monostotic variant most commonly affects the ribs, femur and tibia of older children and young adults. The less frequent polyostotic type may be associated with endocrine abnormalities, skin hyperpigmentation and soft tissue myxoma (so-called Albright syndrome).
  • On radiographs, fibrous dysplasia presents as a well defined osteolytic lesion with benign features, centered within the medulla, and frequently bordered by a shell of reactive sclerosis. Depending on the relative proportion of osseous to fibrous tissue, the lesion can be completely lytic or, most typically, show a relatively high density, the so-called Œground-glass' appearance in a least part of it. Especially in bones with small diameter and flat bones, fibrous dysplasia frequently expands the bone.
  • Pathology Microscopically, irregular trabeculae of woven bone are embedded in a moderately cellular fibrous matrix. The bony trabeculae have variable and irregular shapes. Osteoblastic rimming of the trabeculae is characteristically inconspicuous and some of the trabeculae seem to emerge from the surrounding fibrous background, suggesting a 'metaplastic' process. Benign lesions that histologically can be confused with FD are osteofibrous dysplasia of long bones and desmoplastic fibroma. Cases of FD with extensive cartilaginous differentiation may be mistaken histologically or radiologically for a benign chondroblastic tumor, although the adjacent fibro-osseous component allows this distinction. The most important differential diagnosis of FD is with low grade (well-differentiated) central osteosarcoma. Rarely sarcomas can arise in FD and some of them occur in patients that had received radiation therapy (post-radiation sarcomas) .
    Treatment It should be conservative

    Cytogenetics

    Cytogenetics
    Morphological
    Clonal chromosome aberrations have been reported in 8 out of eleven cases of FD in which chromosomal analysis has been performed, suggesting that this entity is of a neoplastic nature. The only recurrent changes described so far in FD have been structural 12p13 aberrations (3 cases) and trisomy 2 (3 cases).

    External links

    OrphanetFibrous dysplasia of the bone

    Bibliography

    Desmoplastic fibroma arising in fibrous dysplasia. Chromosomal analysis and review of the literature
    Bridge JA, Rosenthal H, Sanger WG, Neff JR
    Clin Orthop Rel Res 1989; 247:272-278
    PMID 2676299
     
    Cytogenetic study of 249 consecutive patients examined for a bone tumor
    Tarkkanen M, Kaipainen A, Karaharju E, Böhling T, Szymanska J, Helio H, Kivioja A, Elemaa I, Knuutila S
    Cancer Genet Cytogenet 1993; 68:1-21
    PMID 8330278
     
    Chromosome aberrations in fibrous dysplasia
    Dal Cin P, Sciot R, Speleman F, Samson I, Laureys G, De Potter C, Meire F, Van Damme B, Van den Berghe H
    Cancer Genet Cytogenet 1994; 77:114-117.
    PMID 7954320
     
    Clonal structural chromosome aberrations in fibrous dysplasia
    Mertens F, Albert A, Heim S, Lindholm J, Brosjö O, Mitelman, F, Mandahl N
    Genes Chromosom Cancer 1994; 11:271-272
    PMID 7533532
     
    Malignancies in fibrous dysplasia
    Ruggeri P, Sim FH, Bond JR, Unni KK
    Cancer 1994; 73:1411-1424
     
    Dahlin's Bone Tumors. General Aspects and Data on 11.087 cases
    Unni KK
    5th ed. 1996 Lippincott-Raven Publishers, pp. 367-376.
     
    Bone Tumors
    Dorfman HD, Czerniak B
    The Mosby Publisher 1998, pp. 441-481
     
    Trisomies 8 and 20 characterize a subgroup of benign fibrous lesions arising in both soft tissue and bone
    Bridge JA, Swarts SJ, Buresh C, Nelson M, Degenhardt Jm, Spanier S, Maale G, Meloni, A, Lynch JC, Neff JR
    Am J Path 1999; 154:729-733
    PMID 10079250
     
    Fibrous dysplasia and the short arm of chromosome 12
    Dal Cin P, Bertoni F, Bacchini A, Hagemeijer A, Van Den Berghe H
    Histopathology 1999; 34:279-280.
    PMID 10217576
     
    Recurrent Chromosome Aberrations in Fibrous Dysplasia of the Bone: A Report of the CHAMP Study Group.
    Dal Cin P, Sciot R, Brys P, De Wever I, Dorfman H, Fletcher CDM, Jonsson K, Mandahl N, Mertens F, Mitelman F, Rosai J, Rydholm A, Samson I, Tallini G, Van den Berghe H, Vanni R, Willen H
    Cancer Genet Cytogenet 2000; 122:30-32.
    PMID 11104029
     
    REVIEW articlesautomatic search in PubMed
    Last year publicationsautomatic search in PubMed

    Contributor(s)

    Written06-2001Paola Dal Cin

    Citation

    This paper should be referenced as such :
    Dal Cin P . Bone: Fibrous dysplasia of the bone. Atlas Genet Cytogenet Oncol Haematol. June 2001 .
    URL : http://AtlasGeneticsOncology.org/Tumors/FibDysplasiaBoneID5093.html

    © Atlas of Genetics and Cytogenetics in Oncology and Haematology
    indexed on : Thu Apr 17 14:14:32 2008


    Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

    For comments and suggestions or contributions, please contact us

    j.l.huret@chu-poitiers.fr.