Novel deletion of SLC34A2 in Chinese patients of PAM shares mutation hot spot with fusion gene SLC34A2-ROS1 in lung cancer.

Pulmonary alveolar microlithiasis (PAM) is an autosomal recessive disorder with distinctive deposition of calcium phosphate microliths in the lungs. Mutation of the SLC34A2 gene was proved to be responsible for PAM. Here, we report the study of a family affected by PAM in China. Two daughters of an inbred family whose parents are cousins and are affected by PAM. Mutation analysis of the SLC34A2 gene by polymerase chain reaction (PCR) amplification and direct sequencing in both patients revealed that exon 5 was deleted on both alleles. Both parents of the patients are proved to be carriers of the mutated allele. Gap-PCR was performed to determine the breakpoints and a homologous deletion of 1152 bp encompassing exon 5 of the SLC34A2 gene (c.IVS4+1452_IVS5+660del) was confirmed. A 4-bp fragment of TGGG was located on the edge of both upstream and downstream breakpoints. The upstream breakpoint lies in the same region as the breakpoint of a fused gene SLC34A2-ROS1, which encodes a constitutive kinase in the lung cancer cell line HCC78 and nonsmall-cell lung cancer (NSCLC), suggesting that the deletion in this family is a hot spot for recombination, not only in cancer samples with somatic mutation, but also in PAM patients with germline genetic defects of SLC34A2.

CT findings of parosteal lipoma with hyperostosis / 中华放射学杂志

Objective To determine the characteristics of paresteal lipomas with hypemstosis (esteochondromas or osseous protuberances)on CT images and to improve the knowledge of diagnosis and differential diagnosis of the disease.Methods CT images and clinical history of 6 patients with pathologically confirmed parosteal lipemas with hyperostosis were retrospectively reviewed.All of the 6 patients underwent plain CT scans.Results CT images clearly show lipomas and osseous projections or osteochondroma in the 6 cases.Parosteal lipomas were found with osteochondronms in 2 cages(1 at the isehium.and the other 1 at the femoral trochanter)and willl osseous protuberances in 4 cases(2 at the diaphysis offemurs.1 at the diaphysis oftibia and the other 1 at the sternum).These osteochondromas and ossous protuberances were surrounded by the adipose component of the neoplasm and had a firm attachment oftlle neoplasm to the underlying bone.The size ofthe osseous projections varied from 0.3 cm x1.2 cm to 6.0 cm x 4.0 cm.The shape of the osgeous projections was various.Osteochondromas found in 2 cases showed cortical continuity with the adjacent bone together with marrow continuity with tlle adjacent bone marrow.In the 4 cages of parosteal lipama with osseous protuberances,2 to 4 osseous protuberances were found in 2 case8 and solitary osseous protuberance were found in the other 2 cases.The lipomatoas companent showed typical features of adipose tissue on all images.The size of the lipomas varied from 3.0 cm ×2.0 cm to 11.0 cm×10.0 cm with clear border.Fibrous septa of different thickness were found within the adipose tissue.There was essification and (or) calcification in 1 case and muscle atrophy in 2 espies.Conclusions CT scan is useful in the presurgical evaluation of parosteal lipomas witll osteochondromas or osseous protuberances became it can demonstrates the morphology,location and extent of the lesions.and it can show their relationship to the surrounding structures. It is important for differential diagnosis and preoperative assessment of the lesion.

Effect of JAK2 inhibitor on proliferation,apoptosis and COX-2 expression of esophageal carcinoma Eca-109 cell line / 基础医学与临床

Objective To investigate the relationship of STAT3 signal transduction pathway with proliferation,apoptosis and COX-2 expression of human esophageal carcinoma Eca-109 cell lines.Methods Eca-109 cells were treated with selective JAK2 inhibitor,AG490.MTT assay was used to detect the proliferation of Eca-109 cells,apoptosis was detected by flow cytometry,agarose gel electrophoresis of DNA and transmission electron micrograph(TEM).The expression of JAK2、p-JAK2、p-Stat3 and COX-2 was examined by Western blot.RT-PCR was performed to detect the levels of COX-2 mRNA expression.Results AG490 significantly inhibited the growth of human Eca-109 cells in a dose and time-dependent manner and induced apoptosis.AG490 inhibited the expressions of JAK2/STAT3 signal transduction pathway protein and down-regulated the expressions of p-JAK2 and p-Stat3(P

Effects of riboflavin and ascorbic acid on apoptosis and proliferative inhibition of mouse thymocytes induced by deoxynivalenol in vivo / 中国病理生理杂志

AIM: To explore the effects of riboflavin and ascorbic acid on the apoptosis induced by deoxynivalenol(DON) in mouse thymocytes. METHODS: The effects of riboflavin and ascorbic acid on the apoptosis and proliferation inhibition of thymocytes induced by DON in KM mice were studied with animal experiment, DNA agarose gel electrophoresis and flow cytometric DNA content analysis. RESULTS: Apoptosis rate of thymocytes in DON (4 mg/kg) treated group was 13 73%?1 53% The percentages of apoptosis in riboflavin (1 25 mg/kg-10 mg/kg) and ascorbic acid (25 mg/kg-100 mg/kg) pretreated thymocytes groups were significantly lower than that in DON group ( P

Effects of deoxynivalenol on apoptosis and proliferation of mouse thymocytes in vivo / 中国病理生理杂志

AIM: To explore the effect of deoxynivalenol on apoptosis and proliferation of mouse thymocytes in vivo. METHODS: Effect of deoxynivalenol at different concentrations on apoptosis and proliferation of mouse thymocytes in vivo were studied with animal experiment, electron microscopic observation, DNA agarose gel electrophoresis and flow cytometric analyses. RESULTS: FCM analysis showed that the apoptosis rates of the thymocytes in DON groups (0 5 mg/kg, 1 mg/kg, 2 mg/kg, 4 mg/kg and 8 mg/kg) were significantly higher than that in control ( P