Hettmer Simone, Teot Lisa A, Kozakewich Harry, Werger Annette M, Davies Kimberly J, Fletcher Christopher D M, Grier Holcombe E, Rodriguez-Galindo Carlos, Wagers Amy J
*Department of Pediatric Oncology, Dana-Farber Cancer Institute †Division of Pediatric Hematology/Oncology, Boston Children's Hospital ¶Department of Pathology, Boston Children's Hospital ‡Howard Hughes Medical Institute §Department of Stem Cell and Regenerative Biology, Harvard Stem Cell Institute, Harvard University ∥Joslin Diabetes Center #Department of Pathology, Brigham and Women's Hospital, Boston, MA.
J Pediatr Hematol Oncol. 2015 Mar;37(2):147-9. doi: 10.1097/MPH.0000000000000115.
In mice, activated Hedgehog (Hh) signaling induces tumors with myogenic differentiation. In humans, hyperactive Hh signaling due to germline PATCHED1 (PTCH1) mutations has been linked to nevoid basal cell carcinoma syndrome (NBCCS). We report an embryonal rhabdomyosarcoma in a 16-month-old girl with NBCCS and review the literature on myogenic neoplasms in NBCCS, including 8 fetal rhabdomyomas and 3 rhabdomyosarcomas. Of note, 3 population studies, including 255 individuals with NBCCS aged 4 months to 87 years, did not identify any myogenic tumors. Thus, myogenic tumors in NBCCS are rare and include both rhabdomyosarcomas and fetal rhabdomyomas.
在小鼠中，激活的刺猬信号通路（Hh）可诱导具有肌源性分化的肿瘤。在人类中，由于种系帕奇1基因（PTCH1）突变导致的Hh信号通路过度活跃与痣样基底细胞癌综合征（NBCCS）有关。我们报告了一名患有NBCCS的16个月大女孩发生的胚胎性横纹肌肉瘤，并回顾了NBCCS中肌源性肿瘤的文献，包括8例胎儿横纹肌瘤和3例横纹肌肉瘤。值得注意的是，3项人群研究，包括255名年龄在4个月至87岁之间的NBCCS患者，未发现任何肌源性肿瘤。因此，NBCCS中的肌源性肿瘤很罕见，包括横纹肌肉瘤和胎儿横纹肌瘤。
