Genetic analysis of fibrosarcoma of bone, a rare tumour entity closely related to osteosarcoma and malignant fibrous histiocytoma of bone

Hattinger, Claudia Maria; Tarkkanen, Maija; Benini, Stefania; Pasello, Michela; Stoico, Giuseppina; Bacchini, Patrizia; Knuutila, Sakari; Scotlandi, Katia; Picci, Piero; Serra, Massimo

doi:10.1078/0171-9335-00408

Cited by 23 publications

(9 citation statements)

References 17 publications

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“…Coexpression of the receptors was detected in 4 of the 13 primary tumors (31%) and in all of the local recurrences. The expression of PDGFRA and PDGFRB in more than half of the samples, as well as their frequent coexpression, including all of the local recurrences, supports our previous study that already suggested these receptors to play an important role in the pathogenesis of FS of bone (Hattinger et al, 2004). We previously detected expression of PDGFRA in 20%, the expression of PDGFRB in 28%, and simultaneous expression of PDGFB ligand and the receptors in 32% of 25 cases with FS of bone, suggesting a presence of a PDGFB-mediated autocrine loop.…”

Section: Ink4asupporting

confidence: 82%

“…In our previous study (Hattinger et al, 2004), which included a different series of FS of bone patients, the most frequently detected aberrations were gains of the chromosomal region 22q (by conventional CGH) and of the platelet-derived growth factor beta (PDGFB) gene located at 22q12.3-q13.1 (by array CGH). Findings obtained in the present study were in agreement with those already published and further indicated the involvement of 22q harbored genes in the pathogenesis of FS of bone.…”

Section: Discussionmentioning

confidence: 99%

“…To our knowledge, only two papers have previously been published about this topic. We previously studied nine FSs of bone by conventional comparative genomic hybridization (CGH) and array CGH using microchips containing probes specific for 59 oncogenes and tumor suppressor genes (Hattinger et al, 2004). Hallor et al (2007) studied one case of FS of bone using cytogenetics, fluorescence in-situ hybridization (FISH), and array CGH encompassing about 30,000 BAC clones.…”

Section: Introductionmentioning

confidence: 99%

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Frequent deletion of CDKN2A and recurrent coamplification of KIT, PDGFRA, and KDR in fibrosarcoma of bone—An array comparative genomic hybridization study

Niini¹,

Löpez‐Guerrero²,

Ninomiya³

et al. 2009

Genes Chromosomes & Cancer

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Very little is known about the genetics of fibrosarcoma (FS) of bone. We applied array comparative genomic hybridization (CGH) to identify genes and genomic regions with potential role in the pathogenesis of this tumor. Seventeen patients with FS of bone were included in the study. Array CGH analysis was carried out in 13 fresh frozen tissue specimens from 11 of these patients (nine primary tumors and four local recurrences). DNA was extracted and hybridizations were performed on Agilent 244K CGH oligoarrays. The data were analyzed using Agilent DNA Analytics Software. The number of changes per patient ranged from 0 to 132 (average = 43). Losses were most commonly detected at 6q, 8p, 9p, 10, 13q, and 20p. CDKN2A was homozygously deleted in 7/11 patients. Hypermethylation of both p16(INK4a) and p14(ARF) was found in 1/14 patients. An internal deletion of STARD13 was found in a region with common losses at 13q13.1. The most frequent gains were seen at 1q, 4q, 5p, 8q, 12p, 15q, 16q, 17q, 20q, 22q, and Xp. Single recurrent high level amplification was detected at 4q12, including KIT, PDGFRA, and KDR. No activating mutations were found in any of them. Immunohistochemistry revealed expression of PDGFRA and/or PDGFRB in 12/17 samples. Moreover, small regions of gains pinpointed genes of particular interest, such as IGF1R at 15q26.3 and CHD1L at 1q21.1. In conclusion, our analysis provided novel findings that can be exploited when searching for markers for diagnosis and prognosis, and targets of therapy in this tumor type.

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Section: Ink4asupporting

confidence: 82%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Frequent deletion of CDKN2A and recurrent coamplification of KIT, PDGFRA, and KDR in fibrosarcoma of bone—An array comparative genomic hybridization study

Niini¹,

Löpez‐Guerrero²,

Ninomiya³

et al. 2009

Genes Chromosomes & Cancer

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“…Only those probes with at least 2 available spots were considered for analysis (spot measurements were highly reproducible, thus two spots are considered sufficient) and the average over the spots was taken as the copy number ratio for that gene. Thresholds for gene amplification and deletion were 1.2 and 0.82, respectively (15). (FISH).…”

Section: Methodsmentioning

confidence: 99%

Genomic imbalances associated with secondary acute leukemias in Hodgkin lymphoma

et al. 2007

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Abstract. Secondary tumors and leukemias are major complications in Hodgkin lymphoma (HL). They likely arise from clonal selection of cells that have accumulated genomic lesions induced by chemo-and radiotherapy and may be further promoted by the loss of DNA repair and/or other pathways ensuring the fidelity of replicated DNA. To distinguish genomic imbalances associated with the development of acute myeloid leukemia (AML) in HL we used an array-based comparative genomic hybridization (aCGH) strategy on whole lymph node biopsies of HL patient. Genomic imbalances (amplifications and deletions) associated with AML outcome in 3 classic HL patients, at clinical diagnosis they exhibited a discrete individual variability. Three amplifications and 5 deletions were shared by all 3 patients. They involved AFM137XA11, a 9p11.2 pericentric region; FGFR1, the FGF receptor most frequently translocated in AML; PPARBP, a co-activator of nuclear receptors RARα, RXR and TRß1; AFM217YD10, a 17q25 telomeric region; FGR, an SRC2 kinase involved in cytokine production by NK and CD4 + NKT cells; GATA3, a Th2-specific transcription factor; TOP1, involved in DNA recombination and repair; WT1, a transcription factor involved in CD8 + T cell response against leukaemic blasts. Immunohistochemistry confirmed aCGH results and distinguished the distribution of either amplified or deleted gene products in neoplastic Reed Sternberg (RS) cells and nonneoplastic lymph node components.

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“…Histologically tumors are characterized by interlacing bundles of collagen fibers without any osteoid, or cartilage production [1]. Differential diagnosis includes fibroblastic osteosarcoma and malignant fibrous histiocytoma (MFH) [5]. …”

Section: Introductionmentioning

confidence: 99%

A rare case of locally advanced fibrosarcoma of diaphysal humerus managed successfully with limb-sparing procedures after neoadjuvant chemotherapy

et al. 2010

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Fibrosarcomas (FS) of bone are a rare malignancy accounting for less than 5% of all primary malignant bone neoplasms. Diagnosis and treatment approaches of this entity are complex and require a skilled and experienced multidisciplinary team.Authors report their experience with a case of FS of humerus showing a pathologic complete response to neo-adjuvant chemotherapy based on adriamycin, cisplatin and ifosfamid. This approach allowed limb-sparing surgery with an excellent functional and psychological result.

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Genetic analysis of fibrosarcoma of bone, a rare tumour entity closely related to osteosarcoma and malignant fibrous histiocytoma of bone

Cited by 23 publications

References 17 publications

Frequent deletion of CDKN2A and recurrent coamplification of KIT, PDGFRA, and KDR in fibrosarcoma of bone—An array comparative genomic hybridization study

Frequent deletion of CDKN2A and recurrent coamplification of KIT, PDGFRA, and KDR in fibrosarcoma of bone—An array comparative genomic hybridization study

Genomic imbalances associated with secondary acute leukemias in Hodgkin lymphoma

A rare case of locally advanced fibrosarcoma of diaphysal humerus managed successfully with limb-sparing procedures after neoadjuvant chemotherapy

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