Recurrent anomalies of 6q25 in chondromyxoid fibroma

Department of Medical Biophysics, University of Toronto, Toronto, Ontario, Canada
Human Pathlogy (Impact Factor: 2.77). 04/2000; 31(3):306-11. DOI: 10.1016/S0046-8177(00)80243-9
Source: PubMed


Chondromyxoid fibroma is a rare benign bone tumor most commonly arising in the metaphysis of long bones in young adults. Histopathologically, chondromyxoid fibroma may be difficult to distinguish from other cartilaginous neoplasms. Recently, a pericentric inversion of chromosome 6 [inv(6)(p25q13)] has been proposed as a specific genetic marker for chondromyxoid fibroma. In this study, cytogenetic and spectral karyotypic analyses of 2 chondromyxoid fibroma cases showed clonal abnormalities of chromosome 6 but at a breakpoint on the long arm (q25) distal to that described in the pericentric inversion. These findings suggest that several distinct breakpoints on chromosome 6 are nonrandomly involved in chondromyxoid fibroma.

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    • "A large series of cytogenetic abnormalities of chondroid tumors from the Chromosomes and Morphology (CHAMP) Collaborative Study Group36 includes four cases of chondroblastoma arising in extremities, all of which had a normal karyotype. Nonrandom karyotypic aberrations in chondroid tumors reported by CHAMP investigators and others include loss of distal 8q in osteochondroma; gain of chromosome 5 in chondroma; rearrangements of 6p and 6q in chondromyxoid fibroma36,37,38,39; gains of chromosome 7; losses of chromosomes 5q, 6q, and 9p40; and abnormalities in 12q and 17p in chondrosarcoma41,42 and the translocation (9;22)(q22;q12) in extraskeletal myxoid chondrosarcoma.43,44,45,46 Clonal abnormalities have been reported in typical epiphyseal chondroblastomas,47,48,49,50,51,52 but never to our knowledge in temporal bone chondroblastoma. "
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    ABSTRACT: The case of a 51-year-old man with a large temporal mass is presented. The mass eroded the floor of the middle fossa medially to the sphenoid sinus. A combined approach with neurosurgery and otolaryngology was performed to achieve maximal resection of the mass. Pathology was typical for chondroblastoma: a rare, benign but locally invasive chondroid tumor. Genetic testing revealed a translocation of (2;5) (q33;q13). This is a unique genetic mutation in all chondroid tumors to our knowledge. The diagnostic utility or role of this mutation in the pathobiology of this tumor remains to be determined.
    Full-text · Article · May 2011
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    • "Recent, a pericentric inversion of chromosome 6 [inv (6) (p25q13)] has been proposed as a specific genetic marker for CMF of long bone. [23] It has been suggested that several distinct breakpoints on chromosome 6 are nonrandomly involved in CMF. The other cytogenetic case report on a nasal cavity CMF has shown insertion between chromosome 6 and 19 in a nasal CMF [24]. "
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    ABSTRACT: Chondromyxoid fibroma (CMF) is a rare benign primary tumor which usually affects the metaphyses of the long bone of the lower extremities in childhood and young adults. Rarely, CMF occurs in the skull base and parasinuses, which may be difficult to distinguish from chondrosarcoma or chordoma and other tumors in the head. It is composed of chondroid, myxoid, and fibrous tissue growth in a lobular pattern, infrequently with calcifications. We report one case of CMF involving the sphenoid sinus mimicking a chondrosarcoma. The tumor mass showed calcifications on images and histology.
    Full-text · Article · Jul 2009 · Head and Neck Pathology
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    • "The cytogenetic findings in our case of the rib mass (case no. 2) revealed clonal translocation t(1;5)(p13;p13) and represents the first report of this clonal rearrangement as the sole abnormality in CMF. Although structural chromosomal aberrations involving 1p13 [41-43] and 5p13 [35,44] have been described in chondrosarcomas, these have not been previously reported in CMF. "
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    ABSTRACT: Chondromyxoid fibromas (CMFs) are rare benign chondroid/myxoid matrix-producing tumors that occur in metaphyses of long tubular bones, and very rarely in small bones of hands and feet. Flat bone involvement is even more uncommon. Prior cytogenetic analyses have identified complex abnormalities involving chromosome 6 in the majority of cases. A search for CMF over an 8-year period (1999-2006) from the surgical pathology files of our institution yielded 16 cases. Four cases occurred in relatively unusual regions, three from the small bones of distal extremities and one from the rib. The rib lesion was submitted for routine cytogenetic analysis. Radiographic studies revealed that all four lesions were well-defined expansile radiolucent lesions which expanded the bony cortices with lobulated margins, sclerotic rim, septation, and no calcification. Morphologically, all four lesions showed typical features of CMF and had low proliferative index with Ki-67. Cytogenetic analysis on the rib lesion revealed a novel chromosomal translocation, t(1;5)(p13;p13). None of the four patients had a recurrence after a mean duration of follow-up of 24 months. CMF originating in unusual locations should be distinguished from chondrosarcomas, especially on small biopsies, and should be included in the differential diagnosis. As previously noted in the literature, the cells can be positive for actin but unlike conventional chondroid neoplasms can be negative for S-100. To our knowledge, this is the first report describing a novel chromosomal translocation, t(1;5)(p13;p13) in CMF.
    Full-text · Article · Feb 2007 · Diagnostic Pathology
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