Recurrent anomalies of 6q25 in chondromyxoid fibroma

doi:10.1016/S0046-8177(00)80243-9

Human Pathology

Volume 31, Issue 3, March 2000, Pages 306-311

https://doi.org/10.1016/S0046-8177(00)80243-9 Get rights and content

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.

References (35)

BridgeJA et al.
Translocations involving chromosomes 2 and 13 in benign and malignant cartilaginous neoplasms
Cancer Genet Cytogenet
(1989)
TarkkanenM et al.
A recurrent chondromyxoid fibroma with chromosome aberrations ins (5;2) (q13;p21p25) and 2p deletion: A case report
Cancer Genet Cytogenet
(1993)
HalbertAR et al.
Cytogenetic analysis of a scapular chondromyxoid fibroma
Cancer Genet Cytogenet
(1998)
DijkhuizenT et al.
Cytogenetics as a tool in the histologic subclassification of chondrosarcomas
Cancer Genet Cytogenet
(1994)
BridgeJA et al.
Biological and clinical significance of cytogenetic and molecular cytogenetic abnormalities in benign and malignant cartilaginous lesions
Cancer Genet Cytogenet
(1993)
van Zelderen BholaSL et al.
Ring chromosome 4 as the sole cytogenetic anomaly in a chondroblastoma: A case report and review of the literature
Cancer Genet Cytogenet
(1998)
PtaszynskiK et al.
Clonal chromosome aberrations with monosomy of chromosome 8 in a case of grade III chondrosarcoma
Cancer Genet Cytogenet
(1997)
DijkhuizenT et al.
Cytogenetics as a tool in the histologic subclassification of chondrosarcomas
Cancer Genet Cytogenet
(1994)
SwartsSJ et al.
Cytogenetic analysis of dedifferentiated chondrosarcoma
Cancer Genet Cytogenet
(1996)
SwartsSJ et al.
Chromosomal abnormalities in low grade chondrosarcoma and a review of the literature
Cancer Genet Cytogenet
(1997)

WuCT et al.

Chondromyxoid fibroma of bone: A clinicopathologic review of 278 cases

Hum Pathol

(1998)

DorfmanHD et al.

Bone Tumors

GranterSR et al.

The pericentromeric inversion inv(6) (p25 q13), is a novel diagnostic marker in chondromyxoid fibroma

Mod Pathol

(1998)

SawyerJ et al.

Evidence of an association between 6q13–21 chromosome aberrations and locally aggressive behavior in patients with cartilage tumors

Cancer

(1998)

BridgeJA et al.

Clonal karyotypic abnormalities of hereditary multiple exostores chromosomal loci 8q24.1 (EXT 1) and 11p11–12 (EXT 2) in sporadic and hereditary osteochondromas

Cancer

(1998)

ISCN

An International System for Human Cytogenetic Nomenclature

SchrockE et al.

Multicolor spectral karyotyping of human chromosomes

Science

(1996)

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^*: Supported in part by grants from the Nebraska State Department of Health, LB595, and the John A. Wiebe Children's Health Care Fund.

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Original ContributionRecurrent anomalies of 6q25 in chondromyxoid fibroma*

Cancer Genet Cytogenet

Cancer Genet Cytogenet

Cancer Genet Cytogenet

Cancer Genet Cytogenet

Cancer Genet Cytogenet

Cancer Genet Cytogenet

Cancer Genet Cytogenet

Cancer Genet Cytogenet

Cancer Genet Cytogenet

Cancer Genet Cytogenet

Chondromyxoid fibroma of bone: A clinicopathologic review of 278 cases

Hum Pathol

Bone Tumors

The pericentromeric inversion inv(6) (p25 q13), is a novel diagnostic marker in chondromyxoid fibroma

Mod Pathol

Evidence of an association between 6q13–21 chromosome aberrations and locally aggressive behavior in patients with cartilage tumors

Cancer

Clonal karyotypic abnormalities of hereditary multiple exostores chromosomal loci 8q24.1 (EXT 1) and 11p11–12 (EXT 2) in sporadic and hereditary osteochondromas

Cancer

An International System for Human Cytogenetic Nomenclature

Multicolor spectral karyotyping of human chromosomes

Science

Original Contribution
Recurrent anomalies of 6q25 in chondromyxoid fibroma*