Prognostic impact of phosphorylated HER-2 in HER-2+ primary breast cancer.

Abstract Purpose. Tyrosine 1248 is one of the autophosphorylation sites of human epidermal growth factor receptor (HER)-2. We determined the prognostic value of the expression level of tyrosine 1248–phosphorylated HER-2 (pHER-2) in patients with HER-2+ primary breast cancer using a reverse-phase protein array. Patients and Methods. The optimal cutoff value of pHER-2 for segregating disease-free survival (DFS) was determined by receiver operating characteristic (ROC) curve analysis. Five-year DFS for pHER-2 expression level was estimated with the Kaplan-Meier method using both derivation (n = 162) and validation (n = 227) cohorts. Results. Of the 162 patients in the derivation cohort, 26 had…

PI3K pathway mutations and PTEN levels in primary and metastatic breast cancer.

Abstract The purpose of this work was to determine whether there are differences in PIK3CA mutation status and PTEN protein expression between primary and matched metastatic breast tumors as this could influence patient management. Paraffin sections of 50 μm were used for DNA extraction and slides of 3 μm for immunohistochemistry (IHC) and FISH. Estrogen receptor, progesterone receptor, and HER2 IHC were repeated in a central laboratory for both primary tumors and metastases. PTEN levels were assessed by IHC and phosphoinositide 3-kinase (PI3K) pathway mutations were detected by a mass spectroscopy–based approach. Median age was 48 years (range: 30–83 years). Tumor subtype included 72% horm…

Concordance of Genomic Alterations between Primary and Recurrent Breast Cancer

Abstract There is growing interest in delivering genomically informed cancer therapy. Our aim was to determine the concordance of genomic alterations between primary and recurrent breast cancer. Targeted next-generation sequencing was performed on formalin-fixed paraffin-embedded (FFPE) samples, profiling 3,320 exons of 182 cancer-related genes plus 37 introns from 14 genes often rearranged in cancer. Point mutations, indels, copy-number alterations (CNA), and select rearrangements were assessed in 74 tumors from 43 patients (36 primary and 38 recurrence/metastases). Alterations potentially targetable with established or investigational therapeutics were considered “actionable.” Alterations…

Deciphering Multiple Sclerosis Progression

Esclerosi múltiple; Neurodegeneració Esclerosis múltiple; Neurodegeneración Multiple sclerosis; Nneurodegeneration Multiple sclerosis (MS) is primarily an inflammatory and degenerative disease of the central nervous system, triggered by unknown environmental factors in patients with predisposing genetic risk profiles. The prevention of neurological disability is one of the essential goals to be achieved in a patient with MS. However, the pathogenic mechanisms driving the progressive phase of the disease remain unknown. It was described that the pathophysiological mechanisms associated with disease progression are present from disease onset. In daily practice, there is a lack of clinical, ra…

Tumor del estroma gastrointestinal y schwannoma gástricos: una presentación inusual en un paciente sin neurofibromatosis

The majority of gastric neoplasms are of epithelial type. Stromal tumours are the next most frequent and are most commonly gastrointestinal stromal tumours, followed by leiomyoma and schwannoma. We present an exceptional case of a patient with a gastrointestinal stromal tumour with suspicion of residual gastric disease, which was diagnosed post-operatively as a schwannoma.

Elastofibroma dorsi: Presentación de un caso y revisión de la bibliografía

Presentamos un caso de esta infrecuente lesión incluida dentro de los tumores y lesiones pseudotumorales fibroblásticas. Es típica de edades medias (alrededor de los 50-55 años) y desde el punto de vista topográfico se localiza fundamentalmente en los tejidos que se encuentran entre el ángulo inferior de la escápula y de la pared torácica, aunque también se ha descrito en otras localizaciones. Su peculiar histología macroscópica ha hecho que en ocasiones haya sido confundido con un sarcoma de partes blandas durante la intervención quirúrgica, aunque su comportamiento clínico y un minucioso análisis histológico permite diferenciarlo de los tumores malignos. We report a case of this uncommon …

Heterogeneous Pattern of Differentiation With BCAS1/NABC1 Expression in a Case of Oligodendroglioma