OBJECTIVETo identify the mutation of solute carrier family 34 member 2 (SLC34A2) gene in a Chinese family with pulmonary alveolar microlithiasis (PAM).

METHODSGenomic DNA was extracted from the family members. DNA sequencing was carried out to confirm the mutation detected by polymerase chain reaction-single strand conformation polymorphisms (PCR-SSCP). The fragments with variation were screened in 100 healthy controls by PCR-SSCP.

RESULTSIn both patients of the family, a homozygous mutation of the SLC34A2 gene was identified in exon 8 (c.A910T), resulting in a premature stop codon. In addition, a homozygous single nucleotide polymorphism (SNP) was found in intron 2 in both patients and the daughter of proband.

CONCLUSIONA novel homozygous mutation in SLC34A2 gene, leading to a premature stop codon therefore a truncated protein, was probably responsible for the PAM in this family. The SNP in intron 2 needs further study.

Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Case-Control Studies ; Exons ; Female ; Humans ; Lung Diseases ; genetics ; Molecular Sequence Data ; Mutation ; Pedigree ; Sodium-Phosphate Cotransporter Proteins, Type IIb ; genetics

OBJECTIVETo investigate the expressions of different forms of ROS fusions in Chinese patients with cholangiocarcinoma (CCA).

METHODSRT-PCR was employed to examine formalin-fixed and paraffin-embedded CCA samples from stage I-IV patients for detection of ROS fusions involving Fused in Glioblastoma (FIG), solute carrier protein (SLC34A2) and major histocompatibility complex class II invariant chain (CD74). Serpin peptidase inhibitor clade A member 1 (SERPINA1) was detected as the reference gene.

RESULTSIn all the 56 CCA samples, 80.4% (45/56) were positive for SERPINA1 expression as evaluable samples. Of these evaluable samples, none expressed the ROS fusions.

CONCLUSIONROS fusions are not common in Chinese CCA patients.

Antigens, Differentiation, B-Lymphocyte ; genetics ; metabolism ; Bile Duct Neoplasms ; metabolism ; pathology ; Carrier Proteins ; genetics ; metabolism ; Cholangiocarcinoma ; metabolism ; pathology ; Female ; Gene Expression ; Histocompatibility Antigens Class II ; genetics ; metabolism ; Humans ; Male ; Membrane Proteins ; genetics ; metabolism ; Middle Aged ; Oncogene Proteins, Fusion ; genetics ; metabolism ; Paraffin Embedding ; Protein-Tyrosine Kinases ; genetics ; metabolism ; Proto-Oncogene Proteins ; genetics ; metabolism ; Sodium-Phosphate Cotransporter Proteins, Type IIb ; genetics ; metabolism

Antigens, Differentiation, B-Lymphocyte ; genetics ; Carcinoma, Non-Small-Cell Lung ; drug therapy ; genetics ; metabolism ; Gene Fusion ; Gene Rearrangement ; Histocompatibility Antigens Class II ; genetics ; Humans ; Immunohistochemistry ; In Situ Hybridization, Fluorescence ; Lung Neoplasms ; drug therapy ; genetics ; metabolism ; Protein Kinase Inhibitors ; therapeutic use ; Protein-Tyrosine Kinases ; antagonists & inhibitors ; genetics ; metabolism ; Proto-Oncogene Proteins ; antagonists & inhibitors ; genetics ; metabolism ; Pyrazoles ; therapeutic use ; Pyridines ; therapeutic use ; Reverse Transcriptase Polymerase Chain Reaction ; Signal Transduction ; Sodium-Phosphate Cotransporter Proteins, Type IIb ; genetics