Translocation t(6;14) as the Sole Chromosomal Abnormality in Adenoid Cystic Carcinoma of the Base of Tongue

Bell, Diana; Zhao, Yangnan; Rao, Pulivarthi H.; Weber, Randal S.; El‐Naggar, Adel K.

doi:10.1007/s12105-007-0030-5

Cited by 6 publications

(8 citation statements)

References 25 publications

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“…G-banding and spectral karyotypic analysis (SKY) identified t(6;14)(q25;q13) as sole structural aberration and loss of chromosome 16. [21] …”

Section: Resultsmentioning

confidence: 99%

“…G-Banding and SKY analysis of primary culture revealed a t(6;14)(q25;q13) translocation as the sole structural chromosomal change in the genomic complement. [21] This translocation was maintained till passage 7 and subsequently lost in later passages (>10). (Fig.…”

Section: Resultsmentioning

confidence: 99%

“…Cytogenetic analysis of the primary tumor revealed clonal translocation involving chromosomes 6q25 and 14q13 and sporadic cytogenetic events including loss of chromosomes 14. [21] This could either be due to loss of progenitor cell(s) or to a finite proliferative capacity of cells with translocations. Alternatively, the loss of this translocation could have resulted from clonal selection shortly after early passages.…”

Section: Discussionmentioning

confidence: 99%

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Development and characterization of salivary adenoid cystic carcinoma cell line

Perlaky

Rao

et al. 2014

Oral Oncology

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Objective To develop in-vitro adenoid cystic carcinoma cell line as a surrogate for functional studies. Materials and Methods Cells obtained from a primary ACC of the base of tongue were cultivated in-vitro and immortalized with h-TERT. Morphologic, cytogenetic and functional studies were performed. Results Tumor cells were verified by positive reactions to keratin and smooth muscle actin and phenotypic cellular and nuclear features. In-vitro cell growth and colony formation assay supported their tumor nature. Conclusion We authenticated an ACC cell line with hybrid epithelial-myoepithelial feature as a resource for functional experimentation.

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“…G-banding and spectral karyotypic analysis (SKY) identified t(6;14)(q25;q13) as sole structural aberration and loss of chromosome 16. [21] …”

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Development and characterization of salivary adenoid cystic carcinoma cell line

Perlaky

Rao

et al. 2014

Oral Oncology

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“…Several recent genomic studies have attempted to unravel the events associated with ACC development and to identify molecular and biological markers for better management of patients with advanced disease (9, 12). Although no definitive marker(s) has been identified, recurrent loss of the terminal region of the long arm of chromosome 6 and translocation involving chromosomes 6q and 9p regions on different partners were the most consistently reported findings (7-13). …”

Section: Introductionmentioning

confidence: 99%

Novel Chromosomal Rearrangements and Break Points at the t(6;9) in Salivary Adenoid Cystic Carcinoma: Association with MYB–NFIB Chimeric Fusion, MYB Expression, and Clinical Outcome

Mitani

Rao

Futreal

et al. 2011

Clinical Cancer Research

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Objective To investigate the molecular-genetic heterogeneity associated with the t(6:9) in adenoid cystic carcinoma (ACC) and correlate the findings with patient clinical outcome. Experimental Design Multi-molecular and genetic techniques complemented with massive pair-ended sequencing and SNP array analyses were used on tumor specimens from 30 new and 52 previously RT-PCR analyzed fusion transcript negative ACCs. MYB mRNA expression level was determined by quantitative RT-PCR. The results of 102 tumors (30 new and 72 previously reported cases) were correlated with the clinicopathologic factors and patients’ survival. Results The FISH analysis showed 34/82 (41.5%) fusion positive tumors and molecular techniques identified fusion transcripts in 21 of the 82 (25.6%) tumors. Detailed FISH analysis of 11 out the 15 tumors with gene fusion without transcript formation showed translocation of NFIB sequences to proximal or distal sites of the MYB gene. Massive pair-end sequencing of a subset of tumors confirmed the proximal translocation to an NFIB sequence and led to the identification of a new fusion gene (NFIB-AIG1) in one of the tumors. Overall, MYB-NFIB gene fusion rate by FISH was in 52.9% while fusion transcript forming incidence was 38.2%. Significant statistical association between the 5′ MYB transcript expression and patient survival was found. Conclusions We conclude that: 1) t(6;9) results in a complex genetic and molecular alterations in ACC, 2) MYB-NFIB gene fusion may not always be associated with chimeric transcript formation, 3) non-canonical MYB, NFIB gene fusions occur in a subset of tumors, 4) high MYB expression correlates with worse patient survival.

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“…G-banding and spectral karyotyping (SKY) analyses were performed as previously described [4]. Composite karyotype was generated based on all clonally occurring chromosome abnormalities in 10 analyzed metaphase spreads.…”

Section: Methodsmentioning

confidence: 99%

Chromosomal abnormalities and molecular landscape of metastasizing mucinous salivary adenocarcinoma

Panaccione

Zhang

et al. 2017

Oral Oncology

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Background Mucinous adenocarcinoma of the salivary gland (MAC) is a lethal cancer with unknown molecular etiology and a high propensity to lymph node metastasis. Mostly due to its orphan status, MAC remains one of the least explored cancers that lacks cell lines and mouse models that could help translational and pre-clinical studies. Surgery with or without radiation remains the only treatment modality but poor overall survival (10-year, 44%) underscores the urgent need for mechanism-based therapies. Methods We developed the first patient-derived xenograft (PDX) model for pre-clinical MAC studies and a cell line that produces aggressively growing tumors after subcutaneous injection into nude mice. We performed cytogenetic, exome, and proteomic profiling of MAC to identify driving mutations, therapeutic targets, and pathways involved in aggressive cancers based on TCGA database mining and GEO analysis. Results: We identified in MAC KRAS (G13D) and TP53 (R213X) mutations that have been previously reported as drivers in a variety of highly aggressive cancers. Somatic mutations were also found in KDM6A, KMT2D, and other genes frequently mutated in colorectal and other cancers: FAT1, NBEA, RELN, RLP1B, and ZFHX3. Proteomic analysis of MAC implied epigenetic up-regulation of a genetic program involved in proliferation and cancer stem cell maintenance. Conclusion Genomic and proteomic analyses provided the first insight into potential molecular drivers of MAC metastases pointing at common mechanisms of CSC propagation in aggressive cancers. The in vitro/in vivo models that we created should aid in the development and validation of new treatment strategies against MAC.

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Translocation t(6;14) as the Sole Chromosomal Abnormality in Adenoid Cystic Carcinoma of the Base of Tongue

Cited by 6 publications

References 25 publications

Development and characterization of salivary adenoid cystic carcinoma cell line

Development and characterization of salivary adenoid cystic carcinoma cell line

Novel Chromosomal Rearrangements and Break Points at the t(6;9) in Salivary Adenoid Cystic Carcinoma: Association with MYB–NFIB Chimeric Fusion, MYB Expression, and Clinical Outcome

Chromosomal abnormalities and molecular landscape of metastasizing mucinous salivary adenocarcinoma

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