KIT/PDGFRA mutational status has prognostic significance for patients' outcome and may help in management of patients with GISTs.

Summary Context An activating mutation in the gene BRAF has been correlated with poorer prognosis and more aggressive clinical course in papillary thyroid carcinoma (PTC). We therefore hypothesized that the good prognosis, high 5‐year disease‐free rate and high survival rate of patients with less aggressive papillary thyroid microcarcinoma (pT1aNo‐x) would be associated with a lower incidence of the BRAFV600E mutation. Objectives To evaluate the frequency of the activating mutation BRAFV600E in low‐risk papillary thyroid microcarcinoma (pT1aNo‐x at the moment of diagnosis) and the association of the mutation with the clinical outcome in a retrospective analysis. Study Design BRAFV600E was characterized in 113 PTC patients diagnosed with pT1aNo‐x (one PTC focus with a diameter <1 cm, without lymph node or distant metastases according to IUCC/AJCC TNM staging system 2010). Genotyping was performed on DNA extracted from thyroid tumour tissue using direct capillary sequencing, and allele‐specific amplification PCR was used to resolve equivocal results. Retrospective analysis of the clinical course of PTC was then correlated with BRAF status in the primary tumour tissue. Results The BRAFV600E mutation was detected in 78 of the 113 pT1aNo‐x patients (69·0%). We observed no persistence, locoregional recurrence, lymph node or distant metastases or deaths in the study group during the 12‐year study (January 2001 to December 2012). Conclusions The presence of the activating BRAFV600E mutation in a significant percentage of papillary thyroid microcarcinoma indicates that further analyses are required to verify its usefulness as a predictor of clinical outcome in PTC. In this study, there was no correlation between BRAF‐positive primary focus of papillary microcarcinoma and more aggressive or recurrent disease.

We identified 4316 unselected incident cases of early-onset breast cancers (<51 ears of age at diagnosis) in 18 Polish hospitals between 1996 and 2003. We were able to obtain a blood sample for DNA analysis from 3472 of these (80.4%). All cases were tested for the presence of three founder mutations in BRCA1. The proportion of cases with a BRCA1 mutation was 5.7%. The hereditary proportions were higher than this for women with breast cancer diagnosed before age 40 (9%), for women with cancer of medullary or atypical medullary histology (28%), for those with bilateral cancer (29%) or with a family history of breast or ovarian cancer (13%). It is reasonable to offer genetic testing to women with early-onset breast cancer in Poland.

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Analysis of the MAX gene should be performed in selected patients, especially those with bilateral adrenal phaeochromocytoma in whom mutations of the classical genes are absent. Our study provides with further support that Y791F RET is a polymorphism.

Background The role of molecular markers in salivary gland carcinoma (SGC) is not well understood. We evaluated molecular marker expression and their prognostic value. Methods Immunohistochemical analysis of 124 tumor specimens was performed to determine expression of androgen (AR), estrogen (ER), and progesterone (PR) receptors and epidermal growth factor receptor (EGFR), human epidermal growth factor receptor 2 (HER2), programmed death ligand 1 receptor (PD‐L1), and PD‐L1 in tumor‐infiltrating mononuclear cell (TIMC). Survival outcomes (disease‐free survival [DFS] and overall survival [OS]), pT and N classification, margin status, and treatment failure were assessed. Results Most patients (78; 62.9%) had early‐stage SGC. AR positivity and EGFR positivity were detected in 21.0% and 78.6%, respectively, of tumors. AR positivity and PD‐L1 negativity were associated with locally advanced disease. PD‐L1‐negativity was associated with higher recurrence (38.5% vs 0%; P < .001) and worse DFS. OS and DFS were worse in patients with AR+ or HER2+ disease. Conclusions Several molecular markers—AR and HER2 positivity and PD‐L1 negativity—were associated with worse clinical outcomes. Prospective, multi‐institutional trials are needed to determine the prognostic value of these markers.

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This report shows a single institution results of oncological treatment in patients with malignant salivary gland tumors, where positive surgical margins strongly correlate with patients' worse outcome. Whether to extend the procedure, which very often requires sacrificing the nerve is still a question of debate.