Clinical impact of 5MYC or 3MYC gain/loss detected by FISH in patients with aggressive B-cell lymphomas.

FISH analysis using MYC break-apart probes is a widely used technique to assess for MYC rearrangement (MYC-R). Occasionally, FISH results in atypical signal patterns, such as gain or loss of 5MYC or 3MYC. The clinical impact and/or relationship of these atypical signal patterns to MYC-R are unknown.

MET Expression Level in Lung Adenocarcinoma Loosely Correlates with Copy Number Gain/Amplification and Is a Poor Predictor of Patient Outcome.

amplification has been associated with shorter survival in cancer patients, however, the potential correlation of MET overexpression with either amplification or patient outcome is controversial. The aim of this study was to address these questions by correlating MET expression level with copy number and patient outcome in a cohort of 446 patients who had a lung adenocarcinoma: 88 with amplification, 118 with polysomy 7, and 240 with negative results by fluorescence in situ hybridization. MET expression assessed by immunohistochemistry was semi-quantified by expression level: absent (0+), weak (1+), moderate (2+) and strong (3+); or by H-score: 0-99, 100-199, and ≥200.

CD2-negative lymphoma-associated T-cells: a potential mechanism of immune-evasion in diffuse large B-cell lymphoma.

CD2 is a costimulatory protein expressed in all mature T/NK-cells, in particular memory T-cells. CD58 (or LFA-3) is the receptor for CD2 and is ubiquitously expressed. CD2-CD58 interaction has key functions in T-cell activation and organization of the immunological synapse between T- and antigen-presenting cells.

MET Amplification (MET/CEP7 Ratio ≥ 1.8) Is an Independent Poor Prognostic Marker in Patients With Treatment-naive Non-Small-cell Lung Cancer.

Introduction: The MET pathway is a promising target in patients with non-small-cell lung cancer (NSCLC). Fluorescence in situ hybridization analysis has become a standard method to detect MET amplification. However, no consensus has been reached regarding the definition of MET amplification.

Acquired MET amplification in non-small cell lung cancer is highly associated with the exposure of EGFR inhibitors and may not affect patients' outcome.

MET amplification has been associated with shorter survival in cancer patients and thought to represent one of two major mechanisms for developing resistance to therapy with EGFR inhibitors. We retrospectively studied 99 patients who had non-small cell lung cancer (NSCLC) and had at least two FISH analyses for MET/CEP7 at different time points during the course of disease. Four (4%) patients showed MET amplification in the initial diagnostic biopsy, and 16 (16%) patients acquired MET amplification in the follow-up biopsy specimens.

Coexistent genetic alterations involving ALK, RET, ROS1 or MET in 15 cases of lung adenocarcinoma.

In lung cancer, targetable activating alterations in cancer genes, such as EGFR, ALK, RET, ROS1 and MET, are usually mutually exclusive. Rare lung cancer cases with coexistent alterations of EGFR and ALK or EGFR mutations with RET or ROS1 rearrangements have been reported. In this study, we report 15 patients (3 men and 12 women; 14 Caucasians and 1 African American) with ages ranging from 43 to 81 years (median 60 years) with lung adenocarcinoma in which coexistent alterations of two cancer-associated genes, including ALK, ROS1, or RET rearrangement or MET amplification were present.

Fetal polymorphisms at the ABCB1-transporter gene locus are associated with susceptibility to non-syndromic oral cleft malformations.

ATP-binding cassette (ABC) proteins in the placenta regulate fetal exposure to xenobiotics. We hypothesized that functional polymorphisms in ABC genes influence risk for non-syndromic oral clefts (NSOC). Both family-based and case-control studies were undertaken to evaluate the association of nine potentially functional single-nucleotide polymorphisms within four ABC genes with risk of NSOC.

Identification of IRF6 gene variants in three families with Van der Woude syndrome.

Van der Woude syndrome is the most common cause of syndromic orofacial clefting. It is characterised by the presence of lip pits, cleft lip and/or cleft palate. It is transmitted in an autosomal dominant manner, with high penetrance and variable expressivity.