Amplification of the PPFIA1 gene region on 11q13 in oral squamous cell carcinomas (OSCC)

Blessmann, Marco; Al‐Dam, Ahmed; Hanken, Henning; Assaf, Alexandre T; Riecke, Björn; Klatt, Jan; Simon, Ronald; Sauter, Guido; Heiland, Max; Gröbe, Alexander

doi:10.1016/j.jcms.2013.01.040

Cited by 18 publications

(10 citation statements)

References 28 publications

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“… 39 – 41 PFFIA1 in 11q13 is also reported in several earlier studies. 42 , 43 We also found a copy number gain in 1p36.21. We suspect one of the genes in this locus, PRDM2 (also known as RIZ), to be involved, as the role is known as a tumor suppressor.…”

Section: Discussionsupporting

confidence: 53%

Genomic Copy Number Variations Characterize the Prognosis of Both P16-Positive and P16-Negative Oropharyngeal Squamous Cell Carcinoma After Curative Resection

et al. 2015

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Section: Discussionsupporting

confidence: 53%

Genomic Copy Number Variations Characterize the Prognosis of Both P16-Positive and P16-Negative Oropharyngeal Squamous Cell Carcinoma After Curative Resection

et al. 2015

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“…Among the frequently amplified regions in human malignancies, amplifications of 11q13 were found in breast cancers [2-4], esophageal squamous cell carcinoma [5], and head and neck cancers [6-9]. In this region, several genes were located and the amplified region encompassed more than one of the tested loci [3].…”

Section: Introductionmentioning

confidence: 99%

Prognostic significance of TMEM16A, PPFIA1, and FADD expression in invasive ductal carcinoma of the breast

et al. 2014

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Background11q13 region is a frequently amplified locus in human malignancies. Among the genes located in this region, FADD is one of the alleged driving genes. Because amplification is not generally confined to a single gene and amplified genes may not show increased expression, we need to evaluate clinical significance of changes occurring in 11q13 region to understand their roles in carcinogenesis. Therefore, we screened expressions of FADD and closely located genes (PPFIA1 and TMEM16A) and evaluated the expressions to find clinical significance in invasive ductal carcinoma of the breast.MethodsNinety-eight cases of invasive ductal carcinoma of the breast were collected. Using archival tissues resected from the cases, we built a tissue microarray and used it in immunohistochemistry. We evaluated the association of FADD, PPFIA1, and TMEM16A expression scores with clinicopathological parameters, including disease-free survival.ResultsFADD expression was associated with T stage (P = 0.046). The combined score of FADD, PPFIA1, and TMEM16A gene expressions was associated with perineural invasion (P = 0.022). Although individual gene expressions of TMEM16A, FADD, and PPFIA1 failed to show significant association with disease-free survival, combined gene expression scores did show association with disease-free survival (P = 0.034).ConclusionsFADD, TMEM16A, and PPFIA1 gene expressions as a whole were associated with disease-free survival in breast cancer.

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“…Additionally, gene amplification seems to be a significant genetic mechanism leading to protein overexpression in these malignancies. Concerning the current molecular results, another study observed that although a significant proportion of examined LSCCs demonstrated cyclin D1 gene amplification, the main anatomic location in HNSCCs characterized by this mechanism was the hypo-pharyngeal epithelia, an indirect evidence of a site-specific prevalence for oncogene amplifications (Blessmann et al, 2013). Furthermore, another study co-analyzed CCND1 numerical imbalances and a specific A/G polymorphism in exon 4 based on differential and RFLP-Polymerase chain reaction (PCR) assays, respectively.…”

Section: Slide Screening Processmentioning

confidence: 62%

Cyclin D1 Gene Numerical Imbalances in Laryngeal Squamous Cell Carcinoma: A Tissue Microarray Grid Based Analysis

Kyrodimos

Papanikolaou

Tsiambas³

et al. 2020

Asian Pac J Cancer Prev

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Background: Deregulation of critical proteins involved in cell cycle stability, such as cyclins, is a frequent genetic event in the development and progression of solid malignancies. Concerning laryngeal squamous cell carcinoma (LSCC), cyclin D1 oncogenic transformation leads to an aberrant protein expression and seems to affect the biological behaviour of the neoplasm. The aim of this study was to determine the correlation of cyclin D1 numerical imbalances with the corresponding protein expression levels in LSCCs. Material and Method: Using tissue microarray (TMA) technology, fifty (n=50) histologically confirmed primary LSSCs were cored at a diameter of 1.5 mm. Immunohistochemistry (IHC) and chromogenic in situ hybridization (CISH) analyses were applied. Concerning the screening process in CISH slides, a novel real-time reference and calibration grid platform was implemented. Results: Protein overexpression was observed in 22/50 (44%) cases; whereas, gene amplification was seen in 13/50 (26%) cases (p=0.02). Combined protein/ gene deregulation was associated with the stage of malignancy (p= 0.0014, p=0.001), whereas overall protein expression was strongly correlated with the grade of tumour (p= 0.001). Conclusion: Cyclin D1 gene amplification led to aberrant protein expression in LSCCs and it was also correlated with an aggressive biological behaviour. To best of our knowledge, this study was the first described grid based CISH analysis under conventional bright field microscopy for detecting gene numerical imbalances while providing a novel and accurate description for screening-mapping process in the entire slide area.

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Amplification of the PPFIA1 gene region on 11q13 in oral squamous cell carcinomas (OSCC)

Cited by 18 publications

References 28 publications

Genomic Copy Number Variations Characterize the Prognosis of Both P16-Positive and P16-Negative Oropharyngeal Squamous Cell Carcinoma After Curative Resection

Genomic Copy Number Variations Characterize the Prognosis of Both P16-Positive and P16-Negative Oropharyngeal Squamous Cell Carcinoma After Curative Resection

Prognostic significance of TMEM16A, PPFIA1, and FADD expression in invasive ductal carcinoma of the breast

Cyclin D1 Gene Numerical Imbalances in Laryngeal Squamous Cell Carcinoma: A Tissue Microarray Grid Based Analysis

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