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

Baruffi, Marcelo Razera; Neto, José Barbieri; Barbieri, Cláudio Henrique; Casartelli, Cacilda

doi:10.1016/s0165-4608(01)00453-8

Cited by 35 publications

(14 citation statements)

References 10 publications

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“…Previous cytogenetic studies of aneurysmal bone cyst have revealed 17 cases with clonal chromosomal abnormalities (Table 2), 3,[6][7][8][9][10][11][12][13] Six of these 17 (35%) cases showed a t(16;17)(q22;p13), while seven additional cases demonstrated rearrangement of 17p11-13 with a chromosome partner other than 16q22. Conversely, 16q22 abnormalities exclusive of 17p11-13 abnormalities have been detected in two aneurysmal bone cysts.…”

Section: Discussionmentioning

confidence: 99%

“…Overall, the following chromosomal bands have been detected as 17p11-13 rearrangement partners in aneurysmal bone cyst: 1p34.1-34.3, 2p23, 6p21, 9p22, 14q11.2, 16q22, and 17q12. 3,[6][7][8][9][10][11][12][13] Observation of repeated involvement of 17p11-13 suggests that a putative oncogene important in the pathogenesis of aneurysmal bone cyst lies within this chromosomal region and the manner of its activation is diverse based on the variable 17p chromosomal rearrangement partners. 19 In addition to the apparent nonrandom partnership of 16q22 and 17p11-13, the current study reveals two more breakpoints that appear to be recurrently rearranged with 17p13.…”

Section: Discussionmentioning

confidence: 99%

“…5 Relatively few cases of aneurysmal bone cyst have been cytogenetically characterized. 3,[6][7][8][9][10][11][12][13] Clonal abnormalities of the short arm of chromosome 17 appear to be recurrent and some authors have postulated that alterations of a 'yet to be determined' gene on 17p13 may play an important role in the development of aneurysmal bone cyst. 3,[7][8][9][10]12,13 In this study, the cytogenetic findings of 43 aneurysmal bone cyst samples from 38 patients are reported; several exhibiting novel rearrangements.…”

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confidence: 99%

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Cytogenetic and molecular cytogenetic findings in 43 aneurysmal bone cysts: aberrations of 17p mapped to 17p13.2 by fluorescence in situ hybridization

et al. 2004

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Aneurysmal bone cyst is a benign, cystic lesion of bone composed of blood-filled spaces separated by fibrous septa. Relatively few cases of aneurysmal bone cyst have been cytogenetically characterized, yet abnormalities of the short arm of chromosome 17 appear to be recurrent. In this study, conventional cytogenetic analysis of 43 aneurysmal bone cyst specimens from 38 patients over a 12-year period revealed clonal chromosomal abnormalities in 12 specimens. Karyotypic anomalies of 17p, including a complex translocation and inversion, were identified in eight of these 12 specimens. In an effort to further define the aberrant 17p breakpoint, fluorescence in situ hybridization (FISH) analyses were performed using a series of probe combinations spanning a 5.1 Mb region between the TP53 (17p13.1) and Miller-Dieker lissencephaly syndrome (17p13.3) gene loci. These studies revealed the critical breakpoint locus at 17p13.2, flanked proximally by an RP11-46I8, RP11-333E1, and RP11-457I18 bacterial artificial chromosome (BAC) probe cocktail and distally by an RP11-198F11 and RP11-115H24 BAC and RP5-1050D4 P1 artificial chromosome (PAC) probe cocktail. Overall, abnormalities of the 17p13.2 locus were identified by metaphase and/or interphase cell FISH analysis in 22 of 35 (63%) aneurysmal bone cyst specimens examined including 26 karyotypically normal specimens. These cytogenetic and molecular cytogenetic findings expand our knowledge of chromosomal alterations in aneurysmal bone cyst, further localize the critically involved 17p breakpoint, and provide an alternative approach (ie FISH) for detecting 17p abnormalities in nondividing cells of aneurysmal bone cysts. The latter could potentially be utilized as an adjunct in diagnostically challenging cases.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

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Cytogenetic and molecular cytogenetic findings in 43 aneurysmal bone cysts: aberrations of 17p mapped to 17p13.2 by fluorescence in situ hybridization

et al. 2004

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“…ABCs demonstrate specific translocational events, most commonly found on chromosomal bands 16q22 and 17p13 with TRE17/ubiquitin carboxyl-terminal hydrolase 6 (USP6) oncogene rearrangements found in primary ABCs [2,3,10,[30][31][32]38]. Multinucleated giant cells in ABCs express osteolytic features of osteoclasts with high levels of matrix metalloproteinases (MMP-9 and MMP-10), tartarate-resistant acid phosphatase, and cathepsin K [23,26].…”

mentioning

confidence: 99%

Percutaneous Doxycycline Treatment of Aneurysmal Bone Cysts With Low Recurrence Rate: A Preliminary Report

Shiels

Mayerson

2013

Clinical Orthopaedics &Amp; Related Research

115

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“…Two theories have been proposed regarding the development of secondary ABCs: A vascular anomaly in a primary bone lesion or a reactive bone growth leading to a hemodynamic change (20). There are existing data that suggest a neoplastic origin with chromosomal abnormalities (21)(22)(23)(24). Despite such data and research, the etiology and pathogenesis of this rare, benign, vascular, destructive and multicystic lesion remain unclear.…”

Section: Discussionmentioning

confidence: 99%

Aneurysmal bone cyst secondary to a giant cell tumor of the patella: A case report

Guo

Fan

et al. 2016

Oncology Letters

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Abstract.The patella is an unusual location for primary and metastatic bone tumors to develop. The most frequently encountered primary osteolytic lesions at the patella include giant cell tumors of the bone (GCT), chondroblastoma and aneurysmal bone cysts (ABC). However, the presentation of an ABC originating secondary to a GCT at the patella is rare. The present study describes such a case in a 46-year-old female. The differential diagnosis of the condition was extensive. The patient underwent curettage and the addition of bone cement to fill the defect. Pathological analysis of the resected tissue demonstrated that the lesion was consistent with an ABC forming secondary to a GCT. A 3-month follow-up was completed subsequent to the surgery, with a computed tomography scan demonstrating no evidence of recurrence. However, frequent and continuous observations of the patient following diagnosis are planned in order to evaluate the long-term efficacy of the surgical treatment. To the best of our knowledge, the present study describes the third reported case in the literature of this rare, double synchronous, benign tumor located at the patella.

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

Cited by 35 publications

References 10 publications

Cytogenetic and molecular cytogenetic findings in 43 aneurysmal bone cysts: aberrations of 17p mapped to 17p13.2 by fluorescence in situ hybridization

Cytogenetic and molecular cytogenetic findings in 43 aneurysmal bone cysts: aberrations of 17p mapped to 17p13.2 by fluorescence in situ hybridization

Percutaneous Doxycycline Treatment of Aneurysmal Bone Cysts With Low Recurrence Rate: A Preliminary Report

Aneurysmal bone cyst secondary to a giant cell tumor of the patella: A case report

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