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Hermansky‐Pudlak syndrome 9 (HPS‐9) is a recessive disorder caused by BLOC1S6 gene. There are only four variants identified from four HPS‐9 patients so far. Here, we reported the first HPS‐9 patient in a Chinese population. He had brownish‐yellow hair, white skin, brown irises with visual acuity, photophobia and nystagmus. Two novel variants, c.148G>T (p.Glu50*) and c.351dupT (p.Ile118Tyrfs*10) in BLOC1S6 gene were identified by whole‐exome sequencing (WES). Absence of platelet dense granules was found by whole‐mount platelet electron microscopy and Western blotting assays showed the destabilized BLOC‐1 subunits. He had recurrent bruising and was found to have abnormal brain waves by electroencephalogram, but did not develop thrombopenia, immunodeficiency or other symptoms reported in other HPS‐9 patients. This is the first case report of BLOC‐1 mutation in a Chinese population and our findings expand the mutational spectrum of HPS genes. [ABSTRACT FROM AUTHOR]

In the previous study, we had showed the expression of CD133+ CD54+ CD44+ cellular subpopulation of circulating tumor cells ( CTCs) was significantly associated with liver metastasis of colorectal cancer ( CRC). This study aimed to explore whether this subpopulation of CTCs have a prognostic value in CRC patients. Flow cytometry was used to detect the expression of cellular subpopulations of CTCs with CD133, CD54, and CD44 in 152 CRC patients, between December 2013 and October 2014. The impact of clinicopathological factors and the expression of cellular subpopulations of CTCs on overall survival were then analyzed. CRC patients with liver metastases who underwent resection of the primary tumor accompanied by surgical treatment for metastasis had a better survival than other patients ( P < 0.001). The liver metastatic CRC patients with high expression of CD133+ CD54+ ( P < 0.001), CD133− CD54+ ( P = 0.004), and CD133+ CD44+ CD54+ ( P = 0.003) cellular subpopulations of CTCs had a worse survival than those patients with low expression. Multivariable survival analyses identified carcinoembryonic antigen levels (hazard ratio [ HR] = 3.056; 95% confidence interval [ CI] = 1.354-6.897; P = 0.007), treatment strategy ( HR = 0.212; 95% CI = 0.056-0.808; P = 0.023), and CD133+ CD44+ CD54+ cellular subpopulation of CTCs ( HR = 6.459; 95% CI = 1.461-28.558; P = 0.014) as independent prognostic factors for CRC patients with liver metastasis. CD133+ CD44+ CD54+ cellular subpopulation of CTCs has a prognostic value in CRC patients with liver metastasis, especially in the survival of CRC patients with liver metastasis who did not undergo surgical treatment for metastasis. [ABSTRACT FROM AUTHOR]

Tumor growth depends on the formation of blood vessels that provide the supply of nutrients and oxygen. Previous data have shown that glioblastoma stem cells are able to give rise to vascular cells to constitute the functional vessels in tumor tissues. However, which kinds of vascular cells are generated from glioblastoma stem cells is largely debated. In addition, there is little evidence showing that the stem cells from other kinds of tumors can produce vascular cells to constitute the functional blood vessels in tumor tissues. Here we show that cancer stem cells of human colorectal carcinomas (Co CSC) can give rise to vascular endothelial cells and compose the vasculatures in cancer tissues. The human-cell-specific nuclear antigen Nu MA+ vascular endothelial cells were detected in the blood vessels in xenografts derived from Co CSC. Nu MA+ endothelial cells incorporated into functional blood vessels. Our data indicate that the cancer stem cells derived from human colorectal carcinomas have the capacity to generate functional blood vessels and provide a new mechanism for tumor vasculogenesis in carcinoma. [ABSTRACT FROM AUTHOR]