Short communicationAneurysmal bone cyst with chromosomal changes involving 7q and 16p
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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2020, Clinical ImagingCitation Excerpt :Aneurysmal bone cyst (ABC), first described in the literature by Jaffe and Lichenstein in 1942 [1], is a benign, expansile, osteolytic lesion composed of blood-filled spaces segregated by connective-tissue septa, mostly involving the long bones and spines of children and young adults [2–10]. The lesion develops either de novo as a true mesenchymal neoplasm, termed a primary ABC, or secondary to a pre-existing bone lesion, termed a secondary ABC [9,11–14]. Secondary ABCs can be morphologic mimics of primary ABCs, but lack the USP6 and CDH11 gene abnormalities frequently seen in primary ABCs and likely develop as a common pathophysiologic endpoint of various types of non-ABC primary bone lesions [11].
A novel t(6;13)(q15;q34) translocation in a giant cell reparative granuloma (solid aneurysmal bone cyst)
2012, Human PathologyCitation Excerpt :It is now generally accepted that primary ABC is neoplastic in nature, given that a significant proportion of cases demonstrated a recurrent chromosomal t(16;17)(q22;p13) translocation leading to rearrangement of the USP6 gene on the short arm of chromosome 17, whereas this chromosomal alteration is absent in all secondary ABCs [1,2]. Infrequently, rearrangements involving chromosomes other than 17 have also been found in sporadic cases of ABC [3-5]. Giant cell reparative granuloma (GCRG) has long been regarded as a reactive process in response to intraosseous hemorrhage or trauma and is frequently seen in the gnathic bones and the short tubular bones of the hands and feet.
Variable histopathological features of 6 cases of aneurysmal bone cysts developed in the jaws: Review of the literature
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