1.Mutation analysis of the mtND4 gene associated with asthenospermia patients
Chuanlian LI ; Jiujia ZHENG ; Zong YANG ; Xuefeng HUANG ; Kexin FANG ; Zhefeng LOU ; Yonggen WU ; Longjin JIN
Chinese Journal of Urology 2011;32(1):62-66
Objective To investigate the relationship between mtND4 point mutation in sperms and asthenospermia. Methods Fifty-six asthenospermia cases and 44 control cases were collected using the WHO criterion for defining asthenospermia, the regions of mtND4 gene were amplified by using PCR of 3 pairs primers. Consequently, the point mutation, missense mutation and multiple single nucleotide polymorphisms (SNP) were analyzed by employing sequencing technology and bioinformatics tools. Results Six mutations never before identified were found. The frequency of single point mutation T10873C and T11944C in the control group were significantly higher than those in the asthenospermia group (P<0.05). Eight cases involved T10873C or T11944C among the 10 cases in control groups with missense mutations were found. But, there were only 2 cases with such mutation in the 10 asthenospermia cases with missense mutations (P<0.05). The previous 20 cases of missense mutations can be described as either multiple SNP group (with T10873C or T11944C) or nonmultiple SNP group. The percentage of a range and a plus b range of multiple SNP group of sperm was significantly higher than the non-multiple SNP group(P<0.05). Conclusions mtND4 gene mutation, especially the missense mutation may induce loss of sperm motility. The mutations of T10873C and T11944C may be useful for sperm motility or counteract the influence for the sperm motility caused by these harmful mutations.
2.Metastatic gastrointestinal hepatoid adenocarcinoma of the liver: a high-grade carcinoma that is easily confused with primary hepatocellular carcinoma
Kexin LOU ; Yao FU ; Hongyan WU ; Ting WANG ; Kwasi Attigah Samuel Doe ; Xiangshan FAN
Chinese Journal of Pathology 2020;49(7):710-714
Objective:To investigate the clinicopathologic and immunophenotypic features of metastatic gastrointestinal hepatoid adenocarcinomas in the liver.Methods:Eight cases of hepatic metastatic gastrointestinal hepatoid adenocarcinoma diagnosed at the Affiliated Drum Tower Hospital, Nanjing University Medical School from January 2009 to January 2019 were retrospectively analyzed. The clinical data, histopathologic features and immunohistochemical (IHC) characteristics performed by EnVision method were analyzed.Results:There were five males and three females with a mean age of 66 years. The primary sites included one case each from the distal esophagus and the right colon, and the other six cases were from the stomach. Pre-treatment serum AFP levels were increased in four patients, normal in two, and was not known in two other patients. Liver metastases occurred in all eight patients at initial diagnosis. Microscopically, the primary tumor was composed of areas showing hepatic differentiation with or without typical adenocarcinoma component; and the areas with hepatic differentiation morphologically resembled hepatocellular carcinoma (HCC). IHC staining showed variable expression of HCC markers such as Glypican 3, AFP, SALL4 and HepPar-1, and gastrointestinal adenocarcinoma markers such as CK19, CDX-2 and Villin in both the primary and metastatic foci of hepatoid adenocarcinoma.Conclusions:Hepatoid adenocarcinoma in the digestive tract gives rise to only non-specific symptoms, and shows high propensity for invasion and metastasis. When liver metastasis is the presenting symptom, it is difficult to distinguish metastatic hepatoid adenocarcinoma from the primary HCC based on histopathologic characteristics alone. The accurate diagnosis of metastatic hepatoid adenocarcinoma in the liver requires combination of clinical, radiologic, histopathologic and IHC findings.