Fluorescent in situ hybridization (FISH) in the differential diagnosis of ground-glass opacities in the lung

Bettio, Daniela; Venci, Anna; Cariboni, Umberto; Rocco, M.; Infante, Maurizio

doi:10.1016/j.lungcan.2010.06.014

Cited by 3 publications

(2 citation statements)

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“…It is well known that cancer is a disease of hyper-proliferation predisposing to chromosome instability and this may have led to the first rearrangement we identified in the sample from the GGO, the translocation t(5;15)(q13;q25-26). Notably, the breakpoint at band q13 in the long arm of chromosome 5 is the same as we observed in a constitutional pericentric inversion previously reported in a patient with a pure GGO lesion (12). This band contains at least 4 genes (CCNB1, CDK7, CENPH, RAD17) encoding important regulators of the cell cycle that could be disrupted by the chromosome rearrangement (13).…”

Section: Discussionsupporting

confidence: 84%

Cytogenetic findings in lung cancer that illuminate its biological history from adenomatous hyperplasia to bronchioalveolar carcinoma to adenocarcinoma: A case report

Bettio¹,

Cariboni

Venci³

et al. 2012

Experimental and Therapeutic Medicine

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The biological and chronological evolution of lung cancer remain to be fully elucidated. A multi-step carcinogenesis hypothesis suggests a progression from atypical adenomatous hyperplasia (AAH) through bronchioalveolar carcinoma (BAC) to invasive adenocarcinoma (AC), but to date this has not been formally demonstrated. We report a case of a patient diagnosed by computed tomography (CT) with lung cancer in the superior right lobe who also presented with a pure ground-glass opacity (GGO) in the inferior lobe, while the middle lobe appeared normal. Following pneumonectomy, cytogenetic analysis successfully performed on spontaneous metaphases obtained by the direct method from samples of the three lung lobes showed the presence of three clonal cell populations, each progressively having increased karyotype complexity. Fluorescence in situ hybridization (FISH), performed using ALK (2p23) break probe and ALK/EML4 t(2;2);inv(2) fusion probe, showed a normal pattern for all specimens. Histological evaluation confirmed the presence of AC in the superior right lobe and classified the GGO lesion as BAC and the normal tissue of the middle lobe as AAH. To the best of our knowledge, this is the first case in which the cytogenetic study of spontaneous metaphases showed a clear clonal relationship among AC, BAC and AAH present simultaneously in different lobes of the same lung. This case appears to indicate that the entire lung was somehow predisposed to a neoplastic transformation starting with a diffuse AAH characterized by high proliferative activity. Moreover, the 5q13 region involved in the translocation shared by BAC and AC contains at least 4 genes encoding important regulators of the cell cycle that may be considered new molecular markers of lung cancer.

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Section: Discussionsupporting

confidence: 84%

Cytogenetic findings in lung cancer that illuminate its biological history from adenomatous hyperplasia to bronchioalveolar carcinoma to adenocarcinoma: A case report

Bettio¹,

Cariboni

Venci³

et al. 2012

Experimental and Therapeutic Medicine

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“…Downregulation of IDH1 is one of the mechanisms underlying 5 hmC loss in kidney cancer [8]. [9]. Jingyi Li (Peking University, China) reported on a new methylation detection method, methylated CpG tandems amplification and sequencing, which can detect thousands of hypermethylated CpG islands simultaneously in circulating cell-free DNA.…”

Section: Dna Methylation and Reprogrammingmentioning

confidence: 99%

Meeting Report of the Fifth International Cancer Epigenetics Conference in Beijing, China, October 2016

et al. 2017

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Development of a multivariate model to predict the likelihood of carcinoma in patients with indeterminate peripheral lung nodules after a nondiagnostic bronchoscopic evaluation

et al. 2014

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Fluorescent in situ hybridization (FISH) in the differential diagnosis of ground-glass opacities in the lung

Cited by 3 publications

References 14 publications

Cytogenetic findings in lung cancer that illuminate its biological history from adenomatous hyperplasia to bronchioalveolar carcinoma to adenocarcinoma: A case report

Cytogenetic findings in lung cancer that illuminate its biological history from adenomatous hyperplasia to bronchioalveolar carcinoma to adenocarcinoma: A case report

Meeting Report of the Fifth International Cancer Epigenetics Conference in Beijing, China, October 2016

Development of a multivariate model to predict the likelihood of carcinoma in patients with indeterminate peripheral lung nodules after a nondiagnostic bronchoscopic evaluation

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