为研究MAP2K1(MEK1)基因在三角帆蚌(Hyriopsis cumingii)性别决定中的作用,采用cDNA末端快速克隆技术(Rapid-amplification of cDNA ends,RACE)克隆了MAP2K1基因序列,利用实时荧光定量分析比较MAP2K1基因在三角帆蚌6个组织(性腺、闭壳...为研究MAP2K1(MEK1)基因在三角帆蚌(Hyriopsis cumingii)性别决定中的作用,采用cDNA末端快速克隆技术(Rapid-amplification of cDNA ends,RACE)克隆了MAP2K1基因序列,利用实时荧光定量分析比较MAP2K1基因在三角帆蚌6个组织(性腺、闭壳肌、肝胰腺、鳃、外套膜、斧足)、早期发育阶段(1—8月龄)性腺和1—3龄雌雄性腺中的表达水平,利用原位杂交确定MAP2K1基因在2龄三角帆蚌性腺中的定位。结果显示,MAP2K1基因开放阅读框(ORF)长度为1194 bp,编码397个氨基酸。MAP2K1基因在卵巢中高表达;早期发育阶段在2月龄表达量最高;1—3龄的表达结果显示,MAP2K1基因在卵巢中的表达量均高于同期精巢中的表达量(P<0.05)。原位杂交结果显示,MAP2K1基因在雌性三角帆蚌的卵母细胞及卵子上有明显的杂交信号。RNAi结果显示,干扰MAP2K1基因的上游基因C-MOS后,下游基因MAP2K1在雌性中的表达下降了82.31%,在雄性中的表达下降了73.60%。推测MAP2K1基因可能参与三角帆蚌的卵巢发育过程,在三角帆蚌中属于偏雌性基因,其表达受C-MOS基因的影响。展开更多
Langerhans cell histiocytosis(LCH)is a rare disorder that primarily affects children.Considering the intricate clinical presentation of this disease,the identification of specific biomarkers associated with susceptibi...Langerhans cell histiocytosis(LCH)is a rare disorder that primarily affects children.Considering the intricate clinical presentation of this disease,the identification of specific biomarkers associated with susceptibility to LCH is essential for timely diagnosis and risk stratification.In this study,we examined the skin specimens from pediatric patients with LCH using RNAscope,immunohistochemistry,and sequencing techniques.We observed a notable correlation between elevated CCR6 expression in pathological tissues and LCH risk classification.Therefore,CCR6 expression may serve as an independent predictor of risk in clinical cases of LCH.Furthermore,the frequency of BRAF V600E mutations correlated with risk stratification.We discovered new mutations-H119Y and R108Q-in MAP2K1 in specimens with BRAF V600E mutations.Moreover,CCR6-positive tumors may exhibit an enhanced recruitment of lymphocytes expressing high CCR7 levels.展开更多
We present the case of a 59-year-old Chinese man diagnosed with stage III clear cell renal cell carcinoma who developed 2 suspicious lung lesions 5 years after follow-up.Pathological evaluation revealed 2 distinct typ...We present the case of a 59-year-old Chinese man diagnosed with stage III clear cell renal cell carcinoma who developed 2 suspicious lung lesions 5 years after follow-up.Pathological evaluation revealed 2 distinct types of cancer:lung adenocarcinoma in situ and clear cell renal carcinoma with lung metastasis.Lung tissue samples were sequenced using a panel of 1267 cancer-related genes.The analysis revealed completely different molecular profiles between the 2 lung lesions and similar clonal mutations in the superior lingular lobe and kidney.This indicates multiple metachronous primary tumors.展开更多
基金supported by the Beijing Research Ward Excellence Program(BRWEP2024W102090104).
文摘Langerhans cell histiocytosis(LCH)is a rare disorder that primarily affects children.Considering the intricate clinical presentation of this disease,the identification of specific biomarkers associated with susceptibility to LCH is essential for timely diagnosis and risk stratification.In this study,we examined the skin specimens from pediatric patients with LCH using RNAscope,immunohistochemistry,and sequencing techniques.We observed a notable correlation between elevated CCR6 expression in pathological tissues and LCH risk classification.Therefore,CCR6 expression may serve as an independent predictor of risk in clinical cases of LCH.Furthermore,the frequency of BRAF V600E mutations correlated with risk stratification.We discovered new mutations-H119Y and R108Q-in MAP2K1 in specimens with BRAF V600E mutations.Moreover,CCR6-positive tumors may exhibit an enhanced recruitment of lymphocytes expressing high CCR7 levels.
文摘We present the case of a 59-year-old Chinese man diagnosed with stage III clear cell renal cell carcinoma who developed 2 suspicious lung lesions 5 years after follow-up.Pathological evaluation revealed 2 distinct types of cancer:lung adenocarcinoma in situ and clear cell renal carcinoma with lung metastasis.Lung tissue samples were sequenced using a panel of 1267 cancer-related genes.The analysis revealed completely different molecular profiles between the 2 lung lesions and similar clonal mutations in the superior lingular lobe and kidney.This indicates multiple metachronous primary tumors.
