scholarly journals Microsatellite Instability in Head and Neck Squamous Cell Carcinoma: A Study of a Brazilian Population

2013 ◽  
Vol 2013 ◽  
pp. 1-5 ◽  
Author(s):  
Elaine Stur ◽  
Eldamaria de Vargas Wolfgramm ◽  
Allan Kardec de Castro Neto ◽  
Lucas de Lima Maia ◽  
Lidiane Pignaton Agostini ◽  
...  

Squamous cell carcinoma (SCC) is the sixth most common solid tumor in the world. Apart from known risk factors for head and neck SCC (HNSCC), there is a lack of information about genetic susceptibility regions that may play pivotal roles in the tumorigenesis of these tumors. Therefore, we have aimed to analyze the presence of genetic instability in microsatellite markers distributed in the genome. Microsatellite instability (MSI) was found in 6 HNSCC patients, among which only one was detected by the D17S250 marker, whereas the other 5 occurrences (13.5%) were detected by the D3S1611 marker. No instability was found at markers D5S346, D10S197, D11S922, and D11S988. MSI detected by D3S1611 marker was present in 3 (14.3%) moderately differentiated tumors and in 2 (25.0%) poorly differentiated tumors, but no statistical significance was found. Genotypic frequencies for all markers showed no statistically significant distribution alteration, neither were they related to differentiation grade or patient age. Marker D3S1611 is located in the MLH1 gene, which is part of the mismatch repair system (MMR), helping to maintain genomic stability. We have found a higher rate of D3S1611 MSI in older patients, suggesting that this marker may be affected by aging processes in the DNA repair machinery.

2001 ◽  
Vol 92 (4) ◽  
pp. 555-561 ◽  
Author(s):  
Susmita Chakrabarti ◽  
Santanu Dasgupta ◽  
Sangita Roy ◽  
Anusree Bhar ◽  
Arunava Sengupta ◽  
...  

2018 ◽  
Vol 69 (10) ◽  
pp. 2638-2641 ◽  
Author(s):  
Simina Boia ◽  
Eugen Radu Boia ◽  
Raluca Amalia Ceausu ◽  
Constantin Nicolae Balica ◽  
Ovidiu Alexandru Mederle

HPV is an important oropharyngeal cancer cause, but it may have a role in other head and neck cancers? HPVpositive head and neck squamous cell carcinoma (HNSCC) epithelial-mesenchymal transition role is unclear. We included 38 cases: 20 laryngeal, 3 corresponding lymph nodes; 5 oropharyngeal, 5 hypopharyngeal, 2 rhynopahryngeal, 2 pharyngolaryngeal and 1 naso-sinusal case. Immunoreactivity was positive in nuclear expression cells, accordingly: score 1 (10-30%), 2 (30-50%) and 3 (]50%). HPV18 immunoexpression appeared in 18 cases (47.36%), (11 laryngeal, 4 oropharyngeal, 1 hypopharyngeal, 1 pharyngolaryngeal and 1 naso-sinusal). The score was 1 in larynx well differentiated type. The score was between 1 and 3 in larynx moderately differentiated types, and a significant correlation HPV18/E-cadherin was found (p=0.031). HPV18+/E-cadherin low values were noticed in larynx, oropharynx, pharyngo-larynx and naso-sinusal well and moderately differentiated types. HPV18-/E-cadherin low values were present in larynx, hypo and rhyno-pharynx moderately and poorly differentiated and larynx well differentiated types. Larynx presented HPV18/E-cadherin and moderately differentiated type significant correlation. Rhyno, hypo-pharyngeal and laryngeal presented HPV18�/E-cadherin low values association for moderately, poorly and undifferentiated types. The oropharyngeal location was associated with E-cadherin maximum values, independently of HPV18 status.


Rheumatology ◽  
2020 ◽  
Vol 59 (Supplement_2) ◽  
Author(s):  
Abdul kayani ◽  
Alwin Sebastian ◽  
Liubov Borukhson ◽  
Madeline Whitlock ◽  
Bhaskar Dasgupta

Abstract Background Jaw and tongue pain with constitutional symptoms and raised inflammatory markers are considered pathognomonic ischemic features of giant cell arteritis (GCA). Temporal artery ultrasound (US) (or biopsy) available in GCA fast-track clinics (FTC) for a rapid assessment of patients with suspected GCA. Atypical presentation and negative US or biopsy require further workup to look for an alternative diagnosis. ENT pathology can occur as a mimic of GCA. Herein we discuss two clinical cases of squamous cell cancer tongue presenting with signs and symptoms that resemble GCA. Methods We have put together a case report. Results Case-1: A 58-year-old male with a recent presumed diagnosis of relapsing GCA was referred with worsening visual symptoms and right eye pain despite ongoing steroid treatment (60mg), for consideration of Tocilizumab (TCZ). His initial presentation was 5 months ago with a right parietal and retro-orbital headache and blurred vision. He had a normal eye examination. His C-reactive protein (CRP) was raised (24). He was started on prednisolone 40 mg for GCA with complete resolution of symptoms with normalised CRP within weeks. Several weeks later, symptoms reoccurred. CT brain, abdomen and pelvis was normal and temporal artery biopsy negative. His prednisolone was increased to 60 mg. 6 months later, his jaw and tongue pain worsened, and he was treated with pulsed methylprednisolone. Due to partial response to steroids, he was referred to consider TCZ. He had tender left TMJ with normal temporal artery US. Urgent MRI head and neck revealed a left posterior tongue mass with the histology confirmed poorly differentiated squamous cell carcinoma. He was managed with chemo and radiotherapy. Case-2: A 75 years old female, presented with right scalp pain, tongue pain, painful swallowing and chewing. Her blood investigations were normal except a raised ESR (48) and presumed GCA she was started on steroids (60 mg). she had initially good response but, within a few weeks, her symptoms returned. She was then referred to our FTC. Temporal artery US and biopsy were normal. MRI of the head and neck showed a large mass seen in the right half of the posterior tongue extending into the deep aspect of the anterior tongue. Histology confirmed poorly differentiated Squamous cell carcinoma. She was treated with a combination of chemotherapy and radiotherapy. Conclusion GCA mimics represent a major diagnostic dilemma. FTC helps to stratify the GCA from mimics. Careful evaluation of the history, examination as well as a temporal artery US helps to exclude GCA and aids prompt requesting of appropriate tests to find an alternative diagnosis such as tongue cancers as in our cases. We have now introduced negative weightage for consideration of alternative diagnoses in our GCA probability score. Disclosures A. Kayani None. A. Sebastian None. L. Borukhson None. M. Whitlock None. B. Dasgupta Consultancies; Roche, Sanofi. Grants/research support; Roche.


2020 ◽  
Vol 5 ◽  
pp. 108-116
Author(s):  
Rooban Thavarajah ◽  
Jospeh Imaneul ◽  
Elizabeth Joshua ◽  
Umadevi Krishnamohan Rao ◽  
Kannan Ranganathan

Objectives: The role of proteins of Cajal bodies (CB) and its identical twin, Gemini of coiled bodies (GEMs) in maintaining genomic integrity and its influence on the initiation, progression, and prognosis of head and neck squamous cell carcinoma (HNSCC) is gaining attention. We attempted to identify the CB and GEM-associated proteins (CB-GEMs) expression in HNSCC patients and study the influence of gender, TP53 mutation, age, and tobacco use on such expression. Material and Methods: TP53 mutation, tobacco use, gender, and mRNA levels of CB-GEM proteins of 520 HNSCC cases were collected and subjected to differential expression (DE) analysis. The resultant DE genes were used to create a transcriptional factor gene network using encode chip sequential data. Pathway analysis of the network was performed and presented. P ≤ 0.05 was taken as significant. Results: For smoking, the genes GEMIN8, FMR1, TRIM22, and FBL emerged as significantly DE genes. For gender, EAF1, GEMIN8, ZC3H8, TRIM22, FBL, LSG1, ZNF473, GMNC, GEMIN2, ISG20, Opa interacting protein 5, GMNN, and CDK2 were DE gene with statistical significance. For TP53, 15 genes were DE with statistical significance. Transcriptional misregulation in cancer was the frequently affected pathway. The CB-GEM bodies are effective highly conserved, splicesomal organelles that are needed for proper mRNA assembly. Certain mRNA of proteins of the CB-GEM bodies is influenced by TP53 status, gender, and tobacco use. Conclusion: The DE of CB-GEM bodies related protein in HNSCC patients are presented. Furthermore, we identified certain critical pathways, where the DE genes of CB-GEM bodies exert critical influence on HNSCC characteristics. This could potentially alter the HNSCC progression, treatment response, and prognosis.


PLoS ONE ◽  
2009 ◽  
Vol 4 (4) ◽  
pp. e5367 ◽  
Author(s):  
Gitali Ganguli-Indra ◽  
Christine Wasylyk ◽  
Xiaobo Liang ◽  
Regine Millon ◽  
Mark Leid ◽  
...  

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