A novel de novo intragenic duplication in FBN1 associated with early-onset Marfan syndrome in a 16-month-old: A case report and review of the literature.

Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder due to pathogenic variants in Fibrillin-1 (FBN1) affecting nearly one in every 10,000 individuals. We report a 16-month-old female with early-onset MFS heterozygous for an 11.2 kb de novo duplication within the FBN1 gene.

Tumor-Infiltrating Lymphocytes in Breast Cancer: Evaluating Interobserver Variability, Heterogeneity, and Fidelity of Scoring Core Biopsies.

Objectives: The aims were to evaluate breast cancer (BC) tumor-infiltrating lymphocytes (TILs) interobserver variability, heterogeneity, and the fidelity of scoring TILs in core needle biopsy (CNB).

Methods: Matching CNB and two full-face sections (FFSs) of BC cases (n = 100) were independently reviewed by two pathologists. Percentage of stromal lymphocytes (TIL-str) and intratumoral lymphocytes (iTu-Ly) were recorded.

Prognostic Significance of Stromal Versus Intratumoral Infiltrating Lymphocytes in Different Subtypes of Breast Cancer Treated With Cytotoxic Neoadjuvant Chemotherapy.

Background: The aim of the study was to investigate if there were differences in associations of stromal versus intratumoral tumor infiltrating lymphocytes (TILs) with pathology complete response (pCR) among breast cancer (BC) subtypes treated with neoadjuvant therapy.

Materials And Methods: The hematoxylin and eosin slides of BC-core biopsy consecutive cases (n=331) were reviewed from a single institution between 2000 and 2014. TIL-stroma (TIL-str) was scored from 0% to 100%.