Recurrent anomalies of 6q25 in chondromyxoid fibroma.
ABSTRACT 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.
SourceAvailable from: Saroona Haroon[Show abstract] [Hide abstract]
ABSTRACT: Objectives: To evaluate the clinico-pathological features and treatment options of chondromyxoid fibroma patients. Methods: The retrospective study was conducted at the Aga Khan University Hospital (AKUH), Karachi, and comprised data of all cases of chondromyxoid fibroma of bone diagnosed between 1996 and 2013.The diagnosis had been made mostly histopathologically, but also included patients in whom preoperative incisional biopsies had been used. Histopathological and radiological findings along with various treatment options and follow-up was recorded on a proforma. Results: Of the total 36 patients,14(39%) were females and 22(61%) were males, with an overall mean age ± of standard deviation 20.9 years ± 9.8 (range: 6-51 years). Diagnosis was made histopathologically in 27(75%) patients and biopsy was used in 9(25%) cases. The most common site of involvement was tibia in 16(44.4%). The main presenting symptom was pain in 30(83.3%) and/or swelling in 6(16.6%). Radiological examination revealed no foci of soft tissue involvement. Bizarre large atypical cells were seen in 14(39%) cases and osteoid formation in 2(5.5%), leading to extreme difficulty in diagnosis. Treatment options included wide resection and marginal excisionin 22(61%) cases, intra-lesional curettage in 14(39%). The mean ± standard deviation follow-up was 48.8 ± 40.2 months (range: 8-152 months). Follow-up details were available only for 19(53%) patients. Among them, recurrence occurred in 7(36.8%) patients. No functional loss developed after surgical treatment, but 3(16%) patients developed wound-site infection. Conclusions: Chondromyxoid fibroma is clinically and histopathologically rare and difficult to diagnose because of the absence of typical diagnostic features in every case.
Clinical Orthopaedics and Related Research 05/2014; 472(8). DOI:10.1007/s11999-014-3704-9 · 2.88 Impact Factor
Article: Cartilage-forming tumors.[Show abstract] [Hide abstract]
ABSTRACT: Cartilage-forming tumors as a group are the most common primary bone tumors; this is largely due to the common occurrence of asymptomatic benign lesions such as osteochondroma and enchondroma. The common feature of these tumors is the presence of chondrocytic cells and the formation of cartilaginous tumor matrix. Some of these tumors are true neoplasms while others are hamartomas or developmental abnormalities. The morphologic heterogeneity of these tumors may be explained by a common multipotent mesenchymal cell differentiating along the lines of fetal-adult cartilage maturation. Recently mutations in IDH1 and IDH2 have been detected in a variety of benign and malignant cartilaginous tumors.(1-4.)Seminars in Diagnostic Pathology 01/2014; 31(1):10-20. DOI:10.1053/j.semdp.2014.01.006 · 1.80 Impact Factor