Multidriver mutation analysis in pulmonary mucinous adenocarcinoma in Taiwan: Identification of a rare CD74-NRG1 translocation case
Journal
Medical Oncology
Journal Volume
31
Journal Issue
7
Pages
34
Date Issued
2014
Author(s)
Abstract
Several new chromosomal translocations resulting in driver fusion mutations have recently been discovered in non-small-cell lung cancer. The driver mutational patterns in pulmonary mucinous adenocarcinoma, a rare subtype of non-small-cell lung cancer, have not been well studied. A single-institute cohort study in Taiwan was performed to determine the mutations of epidermal growth factor receptor (EGFR), Kirsten rat sarcoma viral oncogene homolog (KRAS), fusions of anaplastic lymphoma kinase (ALK), c-ros oncogene 1 (ROS1), and neuregulin 1 (NRG1) in patients diagnosed with pulmonary mucinous adenocarcinoma. We also examined NRG1 translocation in patients diagnosed as adenocarcinoma of other subtypes with wild-type EGFR, KRAS, ALK, and ROS1 genes. Surgical or biopsy specimens were collected from 13 patients with mucinous adenocarcinoma. Using the direct RNA sequencing method, we discovered a rare CD74-NRG1 fusion (8 %), an echinoderm microtubule-associated protein like 4 (EML4)-ALK fusion (17 %), and three KRAS mutations (25 %). No EGFR mutations or ROS1 rearrangements were detected. The rare CD74-NRG1 fusion positive patient presented with uncommon radiological features. We did not detect any CD74-NRG1 fusion in the 109 adenocarcinoma of other subtypes, which were all negative for EGFR, KRAS, ALK, and ROS1. The CD74-NRG1 fusion mutation is rare and may be exclusively present in patients with pulmonary mucinous adenocarcinoma. Patients harboring CD74-NRG1 positive tumors may present with uncommon imaging features. ? 2014 Springer Science+Business Media.
SDGs
Other Subjects
anaplastic lymphoma kinase; CD74 antigen; epidermal growth factor receptor; K ras protein; microtubule associated protein 4; neu differentiation factor; anaplastic lymphoma kinase; B lymphocyte antigen; EGFR protein, human; EML4-ALK fusion protein, human; epidermal growth factor receptor; HLA antigen class 2; invariant chain; KRAS protein, human; neu differentiation factor; NRG1 protein, human; oncoprotein; protein tyrosine kinase; Ras protein; ROS1 protein, human; adult; aged; article; clinical article; cohort analysis; controlled study; female; fusion gene; gene mutation; gene rearrangement; gene translocation; human; human tissue; lung biopsy; lung non small cell cancer; male; mutational analysis; oncogene; priority journal; pulmonary mucinous adenocarcinoma; RNA sequence; Taiwan; tumor biopsy; wild type; Adenocarcinoma, Mucinous; Asian continental ancestry group; case report; gene translocation; genetics; Lung Neoplasms; middle aged; molecular genetics; mutation; mutation rate; nucleotide sequence; very elderly; Adenocarcinoma, Mucinous; Adult; Aged; Aged, 80 and over; Antigens, Differentiation, B-Lymphocyte; Asian Continental Ancestry Group; Base Sequence; Female; Histocompatibility Antigens Class II; Humans; Lung Neoplasms; Male; Middle Aged; Molecular Sequence Data; Mutation; Mutation Rate; Neuregulin-1; Oncogene Proteins, Fusion; Protein-Tyrosine Kinases; Proto-Oncogene Proteins; ras Proteins; Receptor Protein-Tyrosine Kinases; Receptor, Epidermal Growth Factor; Taiwan; Translocation, Genetic
Publisher
Humana Press Inc.
Type
journal article