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Aneurysmal bone cyst with chromosomal changes involving 7q and 16p

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Abstract

An aneurysmal bone cyst was submitted to cytogenetic analysis. The modal chromosome number was 46. The composite karyotype was 40∼48,XY,−Y[4],−6[3],del(7)(q32)[3],−9[3],+12[2],+13[2], inv(16)(p13.1q24)[4],−17[3],−19[4],−20[3][cp13]. The clonal structural changes detected were del(7)(q32) and inv(16)(p13.1q24). The breakpoints involved affected areas to which important genes for cell cycle regulation have been mapped. There is only one report in the literature of three aneurysmal bone cysts presenting clonal karyotypic alterations. The cytogenetic study of the aneurysmal bone cyst reported here showed different results when compared to those previously described in the literature.

Introduction

Aneurysmal bone cyst is a relatively rare expansive benign osteolytic lesion constituting approximately 2.5% of all primary bone tumors. The lesion consists of blood-filled spaces of varying size separated by connective tissue septa containing trabecular osseous or osteoid tissue and giant osteoclastic cells [1]. It usually occurs in adolescents and young adults between the second and third decade of life, mainly involving craniofacial bones, the spine and, less frequently, long bones [2]. Although of a benign nature, this lesion has a high local destructive ability and a strong tendency to recur [2]. The etiology of aneurysmal bone cysts is still unknown [1]. Only three such lesions with chromosomal abnormalities have been described thus far [3]. Eight other previously published cases were found to have normal karyotypes [4].

We report here the chromosome pattern of an aneurysmatic bone cyst presenting clonal chromosome alterations.

Section snippets

Case report

A 16-year-old male patient came to the Orthopedics Clinic four months after a traumatic injury to the left elbow, presenting with pain and deficient movement. Clinical examination revealed increased elbow volume and the presence of muscle hypotrophy in the left arm, with discrete pain upon palpation and medial nodulation. Radiologic examination revealed a radio-transparent area in the distal end of the humerus of well-defined contours, with no sclerosis and with a small calcification image

Materials and methods

Tissue sections of an aneurysmal bone cyst, adjacent to those used for histophatologic analysis, were processed for cytogenetic analysis as described previously [5]. Culture time was determined individually for each flask depending on mitotic activity (7–10 days). Chromosome preparation and cytogenetic analysis were carried out by standard techniques following direct harvesting of primary cultures. Metaphase chromosomes were subjected to GTG-banding [6]. Karyotype description and requirements

Results

A modal chromosome number of 46 was detected in 64 cells analyzed after standard staining: 36% of the cells were in the diploid range and 60% were hypodiploid. The composite karyotype was: 40∼48,XY,−Y[4],−6[3],del(7)(q32)[3], −9[3],+12[2],+13[2],inv(16)(p13.1q24)[4],−17[3],−19[4],−20[3][cp13] (Fig. 2).

Discussion

We report here the cytogenetic analysis of an aneurysmal bone cyst with clonal chromosomal alterations including inv(16)(p13.1q24) and del(7)(q32). The first cytogenetic report concerning aneurysmal bone cysts was published by Pfeifer et al. [4] and involved eight patients, all with normal karyotypes. Recently, Panoutsakopoulos et al. [3] reported three aneurysmal bone cysts with clonal chromosomal alterations: two cases presented a t(16;17)(q22;p13) and one case presented a del(16)(q22).

Acknowledgements

The authors wish to thank Vanderci Massaro de Oliveira, Marcio Rogério Penha, and Rosangela Orlandin Lopez for technical assistance. Financial support came from FAPESP, CNPq, FAEPA, and CAPES.

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