Different Radiation Dose of Neoadjuvant Chemoradiation for Resectable Thoracic Esophageal Squamous Carcinoma

Conditions:   Esophageal Carcinoma;   Neoadjuvant Chemoradiation;   Surgery
Interventions:   Radiation: Higher dose (50.4Gy/28F) of neoadjuvant chemoradiation;   Radiation: Lower dose (41.4Gy/23F) of neoadjuvant chemoradiation
Sponsor:   Zhejiang Cancer Hospital
Not yet recruiting

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Absence of BRAFV600E mutation in odontogenic keratocysts

Abstract

Background

Mutations in the patched 1 (PTCH1) gene are the main genetic alteration reported in sporadic and nevoid basal cell carcinoma associated-odontogenic keratocyst (OKC). Oncogenic mutations, including BRAFV600E, previously considered exclusive of malignant neoplasms have been reported in odontogenic tumors. Recently, a high frequency of BRAFV600E mutation has been reported in OKC. Because of the considerable recurrence rate of OKC, the identification of druggable genetic mutations can be relevant in the management of extensive lesions.

Methods

A set of 28 OKCs was included in this work. Initially, 10 sporadic and eight OKC samples from four NBCCS patients (a pair of lesions from each syndromic patient) were submitted to targeted next-generation sequencing (NGS) of 2,800 different mutations in 50 oncogenes and tumor suppressor genes, including BRAF. Ten extra sporadic OKC samples were included to assess BRAFV600E mutation by using Taqman allele-specific qPCR.

Results

The following missense mutations occurred in one case each: ATM p.Ser333Phe, SMO p.Gly416Glu, PIK3CA p.Ser326Phe, FBXW7 p.Ser438Phe, JAK2 p.Ser605Phe, PTEN p.Arg173His, ATM p.Cys353Arg, PTEN p.Ser294Arg, MET p.His1112Tyr. None of the 18 samples showed the BRAFV600E (or any other V600) mutation in the NGS. BRAFV600E mutation was detected by qPCR in one out of the 10 OKC. Collectivelly, our results show BRAFV600E mutation in 1/28 OKC cases.

Conclusion

On the basis of our results, OKCs do not present recurrent hotspot mutations in these 50 genes commonly mutated in cancer. In addition, BRAFV600E does not play a central role in OKC pathogenesis.

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Proinflammatory cytokines as serum biomarker in oral carcinoma – a prospective multi-biomarker approach

Abstract

Background

Inflammation and cell-mediated immunity have a key role in different stages of carcinogenesis. The aim of this prospective study was to assess serum levels of proinflammatory cytokines interleukin-6 (IL-6), interleukin-8 (IL-8), soluble interleukin-2 receptor (sIL-2R), tumour necrosis factor alpha (TNF-α) and MHC class I polypeptide-related sequence B (MICB) in patients with oral premalignant lesion (OPL), oral squamous cell carcinoma (OSCC) and healthy controls in a multi-biomarker approach as a potential diagnostic and prognostic tool for OSCC.

Material and Methods

205 patients (81 with OSCC, 75 with OPL, and 49 healthy controls) were included in this prospective study. Cytokine concentrations were measured by commercial enzyme linked immunoassay and chemiluminescence immunoassay.

Results

IL-6, IL-8 and sIL-2R were significantly elevated in OSCC patients compared to healthy controls and to OPL patients. Higher T-Grade (>T2) and positive lymph node involvement resulted in significantly higher IL-6 values (p<0.001 and p=0.037). IL-6 serum values ≥ 5 pg/ml (n=45) and sIL-2R serum values ≥ 623 U/ml (n=19) indicated a significant lower survival rate compared to OSCC patients with low IL-6 (n=36) and sIL-2R values (n=62, p=0.023 and p=0.026). ROC and classification tree analyses identified the combination of IL-6 and IL-8 as diagnostic markers with good diagnostic accuracy.

Conclusion

In conclusion, IL-6, IL-8 and sIL-2R are strongly associated with OSCC oncogenesis and IL-6 and sIL-2R seem to be promising and potent biomarkers for evaluating patients' prognosis.

This article is protected by copyright. All rights reserved.

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Identical COL71A1 heterozygous mutations resulting in different dystrophic epidermolysis bullosa phenotypes

Abstract

Dystrophic epidermolysis bullosa is a rare blistering condition caused by mutations in the COL7A1 gene. Different clinical variants have been described, with dominant and recessive inheritance, but no consistent findings have been elucidated to establish a genotype–phenotype correlation. We present three unrelated patients with two identical pathogenic compound heterozygous mutations in the COL7A1 gene that developed different clinical forms of dystrophic epidermolysis bullosa—epidermolysis bullosa pruriginosa and mild recessive non-Hallopeau–Siemens—raising the possibility of other genetic or environmental modifying factors responsible for the phenotype of the disease.

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Ethnic rhinoplasty

Abstract

Rhinoplasty is one of the main facial plastic procedures performed worldwide. Ethnic patients today are mainly mixed-race patients. Diagnosis is based on anatomical findings and surgery should be planned based on patients' needs and what they define as beautiful. Different surgical techniques are presented where a structural approach to rhinoplasty is explained. Very little tissue is resected and support structures of the nose are strengthened with sutures and grafts. A gradual approach to the nasal tip is also presented progressing from simple predictable techniques to more complex unpredictable ones. The final result should be noses with greater definition and refinement that are harmonious and blend in with patients' faces.

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The Crosscourt Draf IIb Procedure for Advanced, Refractory Frontal Sinus, and Nasal Septum Pathology

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Dermoscopic features of pseudoxanthoma elasticum

Summary

Pseudoxanthoma elasticum (PXE) is a disease characterized by aberrant mineralization of soft tissue and fragmentation of elastic fibres. It is often difficult to distinguish PXE clinically from pseudoxanthoma elasticum-like papillary dermal elastolysis (PXE-like PDE). However, we have identified that the dermoscopic findings in PXE include coalescing and reticulated yellow-white clods on a light purple-red background, whereas the dermoscopic findings in PXE-like PDE lack such a coloured background. To our knowledge, this is the first detailed description of dermoscopic differences between PXE and PXE-like PDE.

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