Genetic study of a fetus with 9p direct duplication deletion syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To use next generation sequencing (NGS) to identify unknown abnormality of chromosome 9 in a fetus and explore its mechanism.</p><p><b>METHODS</b>A pregnant woman with abnormal fetal ultrasound finding underwent amniocentesis for G-banded chromosomal analysis. Karyotyping was also performed on peripheral blood samples derived from its parents. Fetal blood sample was obtained for NGS testing to identify abnormality unrecognized by karyotyping.</p><p><b>RESULTS</b>Analysis of amniocytes has revealed a 46,XX,der(9)(?::p21 to qter) karyotype, while both parents had a normal karyotype. NGS analysis of the fetus revealed a 20.67 Mb duplication (4 454 279-25 126 275) at 9p21.3p24.2, which overlapped with that of the 9p duplication syndrome, and a 4.43 Mb deletion at 9p24.2p24.3 (10 001-4 442 364), which partially overlapped with that of 9p deletion syndrome and 46,XY sex reversal 4 region. Comparison of the sequencing data with reference genome database indicated direct duplication of 9p21.3p24.2, which was also supported by review of the morphology of chromosome 9p. Therefore, the karyotype of the fetus was verified to be 46,XX,der(9) dir dup(9)(p21.3p24.2), del(9)(p24.2p24.3).</p><p><b>CONCLUSION</b>Combined G-banded karyotyping and NGS can identify dir dup del(9p) with accuracy. Delineation of the mechanism of dir dup del(9p) and its genotype-phenotype correlation may facilitate genetic counseling and estimation of recurrence risk.</p>

CD133+ ovarian cancer stem-like cells differentiate into vascular endothelial cells / 中国组织工程研究

BACKGROUND:Numerous studies have confirmed that neovascularization plays an important role in the growth, invasion and metastasis of tumors. OBJECTIVE:To investigate the features of CD133+ ovarian cancer stem-like cels differentiating into vascular endothelial cels. METHODS:CD133+ ovarian cancer stem-like cels were successfuly harvested from A2780 ovarian cancer cel lines using serum-free culture method, and incubatedin vitro onto 96-wel plates with or without Matrigel. Then, we observed the capacity of CD133+ ovarian cancer stem-like cels and human umbilical vein endothelial cels to form tube-like structures at different time points. Through xenograft experiments, the role of CD133+ ovarian cancer stem-like cels in the angiogenesis of ovarian cancer was observed using immunofluorescence staining. RESULTS AND CONCLUSION:CD133+ovarian cancer stem-like cels and human umbilical vein endothelial cels cultured with no Matrigel had no corresponding lumen formation, and could not express CD31. But those cultured with Matrigel had lumen formation and expressed CD31 significantly. After tumor formation, human-derived CD31 expression was observed in the tumors. These findings indicate that CD133+ ovarian cancer stem-like cels can differentiate into vascular endothelial cels, and be involved in tumor revascularization.