儿童纵向骨生长取决于生长板软骨形成的速率,这是一个受内分泌和旁分泌因素调节的复杂过程。任何影响生长板软骨形成的调控基因突变都可能导致身材矮小。随着高通量测序等分子生物学技术的高速发展,许多导致身材矮小的生长板调控基因不...儿童纵向骨生长取决于生长板软骨形成的速率,这是一个受内分泌和旁分泌因素调节的复杂过程。任何影响生长板软骨形成的调控基因突变都可能导致身材矮小。随着高通量测序等分子生物学技术的高速发展,许多导致身材矮小的生长板调控基因不断被发现。印度刺猬(Indian hedgehog,IHH)基因编码了一个生长板重要的旁分泌调节因子——印度刺猬蛋白,该蛋白在调节软骨细胞分化、关节发育与骨形成等方面发挥重要作用[1]。IHH基因杂合突变可导致身材矮小伴A1型短指畸形(brachydactyly type A1,BDA1;OMIM 112500)[2]。目前国内对该基因突变少有报道。本文回顾性分析1例以身材矮小就诊的IHH基因杂合突变患儿接受重组人生长激素(recombinant human growth hormone,rhGH)治疗的临床资料,并进行相关文献复习,为临床诊治此病提供理论依据。展开更多
AIM: To investigate the role that the hedgehog (Hh) signaling pathway, which includes sonic hedgehog (Shh), Patched (Ptc), Smoothened (Smo) and Gli-1, plays in hu- man gastrointestinal stromal tumors (GISTs). METHODS:...AIM: To investigate the role that the hedgehog (Hh) signaling pathway, which includes sonic hedgehog (Shh), Patched (Ptc), Smoothened (Smo) and Gli-1, plays in hu- man gastrointestinal stromal tumors (GISTs). METHODS: Surgically resected specimens from pa- tients with GISTs, leiomyomas and schwannomas were examined by immunohistochemical staining for aberrant expression of hedgehog signaling components, Shh, Ptc, Smo and Gli-1, respectively. RESULTS: In GISTs, 58.1% (18 of 31), 77.4% (24 of 31), 80.6% (25 of 31) and 58.1% (18 of 31) of the specimens stained positive for Shh, Ptc, Smo and Gli-1, respectively. In leiomyomas, 92.3% (12 of 13), 92.3% (12 of 13), 69.2% (9 of 13) and 92.3% (12 of 13) stained positive for Shh, Ptc, Smo and Gli-1, respectively. In schwannomas, 83.3% (5 of 6), 83.3% (5 of 6), 83.3% (5 of 6) and 100% (6 of 6) stained positive for Shh, Ptc, Smo and Gli-1, respectively. Immunohistochemistry revealed that the expressions of Shh and Gli-1 were sig- nificantly higher in leiomyomas than in GISTs (P < 0.05, respectively). Shh expression strongly correlated with the grade of tumor risk category and with tumor size (P < 0.05, respectively). However, the expressions of Ptc and Smo did not correlate with histopathological differentiation. CONCLUSION: These results suggest that the Hh sig- naling pathway may play an important role in myogenic differentiation and the malignant potential of human in-testinal stromal tumors.展开更多
文摘儿童纵向骨生长取决于生长板软骨形成的速率,这是一个受内分泌和旁分泌因素调节的复杂过程。任何影响生长板软骨形成的调控基因突变都可能导致身材矮小。随着高通量测序等分子生物学技术的高速发展,许多导致身材矮小的生长板调控基因不断被发现。印度刺猬(Indian hedgehog,IHH)基因编码了一个生长板重要的旁分泌调节因子——印度刺猬蛋白,该蛋白在调节软骨细胞分化、关节发育与骨形成等方面发挥重要作用[1]。IHH基因杂合突变可导致身材矮小伴A1型短指畸形(brachydactyly type A1,BDA1;OMIM 112500)[2]。目前国内对该基因突变少有报道。本文回顾性分析1例以身材矮小就诊的IHH基因杂合突变患儿接受重组人生长激素(recombinant human growth hormone,rhGH)治疗的临床资料,并进行相关文献复习,为临床诊治此病提供理论依据。
文摘AIM: To investigate the role that the hedgehog (Hh) signaling pathway, which includes sonic hedgehog (Shh), Patched (Ptc), Smoothened (Smo) and Gli-1, plays in hu- man gastrointestinal stromal tumors (GISTs). METHODS: Surgically resected specimens from pa- tients with GISTs, leiomyomas and schwannomas were examined by immunohistochemical staining for aberrant expression of hedgehog signaling components, Shh, Ptc, Smo and Gli-1, respectively. RESULTS: In GISTs, 58.1% (18 of 31), 77.4% (24 of 31), 80.6% (25 of 31) and 58.1% (18 of 31) of the specimens stained positive for Shh, Ptc, Smo and Gli-1, respectively. In leiomyomas, 92.3% (12 of 13), 92.3% (12 of 13), 69.2% (9 of 13) and 92.3% (12 of 13) stained positive for Shh, Ptc, Smo and Gli-1, respectively. In schwannomas, 83.3% (5 of 6), 83.3% (5 of 6), 83.3% (5 of 6) and 100% (6 of 6) stained positive for Shh, Ptc, Smo and Gli-1, respectively. Immunohistochemistry revealed that the expressions of Shh and Gli-1 were sig- nificantly higher in leiomyomas than in GISTs (P < 0.05, respectively). Shh expression strongly correlated with the grade of tumor risk category and with tumor size (P < 0.05, respectively). However, the expressions of Ptc and Smo did not correlate with histopathological differentiation. CONCLUSION: These results suggest that the Hh sig- naling pathway may play an important role in myogenic differentiation and the malignant potential of human in-testinal stromal tumors.
