痣样基底细胞癌综合征中的肌源性肿瘤。
Myogenic tumors in nevoid Basal cell carcinoma syndrome.
作者信息
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
机构信息
*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.
出版信息
J Pediatr Hematol Oncol. 2015 Mar;37(2):147-9. doi: 10.1097/MPH.0000000000000115.
Abstract
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.
摘要
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。
相似文献
1
Myogenic tumors in nevoid Basal cell carcinoma syndrome.痣样基底细胞癌综合征中的肌源性肿瘤。
J Pediatr Hematol Oncol. 2015 Mar;37(2):147-9. doi: 10.1097/MPH.0000000000000115.
2
Two cases of nevoid basal cell carcinoma syndrome associated with meningioma caused by a PTCH1 or SUFU germline mutation.两例神经嵴来源的基底细胞痣综合征相关脑膜瘤，由 PTCH1 或 SUFU 种系突变引起。
Fam Cancer. 2012 Dec;11(4):565-70. doi: 10.1007/s10689-012-9548-0.
3
The large intracellular loop of ptch1 mediates the non-canonical Hedgehog pathway through cyclin B1 in nevoid basal cell carcinoma syndrome.在痣样基底细胞癌综合征中，ptch1的大细胞内环通过细胞周期蛋白B1介导非经典Hedgehog信号通路。
Int J Mol Med. 2014 Aug;34(2):507-12. doi: 10.3892/ijmm.2014.1783. Epub 2014 May 16.
4
Deregulation of the hedgehog signalling pathway: a possible role for the PTCH and SUFU genes in human rhabdomyoma and rhabdomyosarcoma development.刺猬信号通路失调：PTCH和SUFU基因在人类横纹肌瘤及横纹肌肉瘤发生中的可能作用
J Pathol. 2006 Jan;208(1):17-25. doi: 10.1002/path.1882.
5
Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome.PTCH2 基因的移码突变可导致结节性基底细胞癌综合征。
Fam Cancer. 2013 Dec;12(4):611-4. doi: 10.1007/s10689-013-9623-1.
6
PTCH1 and SMO gene alterations in keratocystic odontogenic tumors.牙源性角化囊性瘤中PTCH1和SMO基因改变
J Dent Res. 2008 Jun;87(6):575-9. doi: 10.1177/154405910808700616.
7
Novel PTCH1 mutations in patients with keratocystic odontogenic tumors screened for nevoid basal cell carcinoma (NBCC) syndrome.筛查有无结节性基底细胞癌综合征（NBCC 综合征）的患者中角化囊性牙源性肿瘤中的新型 PTCH1 突变。
PLoS One. 2012;7(8):e43827. doi: 10.1371/journal.pone.0043827. Epub 2012 Aug 27.
8
Multiple keratocystic odontogenic tumors associated with nevoid basal cell carcinoma syndrome having distinct PTCH1 mutations: a case report.与痣样基底细胞癌综合征相关的多发性牙源性角化囊性瘤伴不同的PTCH1基因突变：病例报告
Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2010 Aug;110(2):e41-6. doi: 10.1016/j.tripleo.2010.04.006.
9
Multiple nevoid basal cell carcinoma syndrome associated with congenital orbital teratoma, caused by a PTCH1 frameshift mutation.由PTCH1移码突变引起的多发性痣样基底细胞癌综合征与先天性眼眶畸胎瘤相关。
Genet Mol Res. 2014 Jul 25;13(3):5654-63. doi: 10.4238/2014.July.25.21.
10
Novel PTCH1 mutations in Japanese Nevoid basal cell carcinoma syndrome patients: two familial and three sporadic cases including the first Japanese patient with medulloblastoma.日本结节性基底细胞癌综合征患者中新发的 PTCH1 突变：两例家族性和三例散发性病例，包括首例日本患者的髓母细胞瘤。
J Hum Genet. 2011 Apr;56(4):277-83. doi: 10.1038/jhg.2011.2. Epub 2011 Mar 3.
引用本文的文献
1
Myogenesis gone awry: the role of developmental pathways in rhabdomyosarcoma.肌生成紊乱：发育途径在横纹肌肉瘤中的作用
Front Cell Dev Biol. 2025 Jan 20;12:1521523. doi: 10.3389/fcell.2024.1521523. eCollection 2024.
2
Inhibition of primary cilia-hedgehog signaling axis triggers autophagic cell death and suppresses malignant progression of VHL wild-type ccRCC.抑制初级纤毛-刺猬信号轴可触发自噬性细胞死亡，并抑制 VHL 野生型 ccRCC 的恶性进展。
Cell Death Dis. 2024 Oct 10;15(10):739. doi: 10.1038/s41419-024-07085-8.
3
Context-dependent modulation of aggressiveness of pediatric tumors by individual oncogenic RAS isoforms.个体致癌性 RAS 异构体对小儿肿瘤侵袭性的上下文依赖性调节。
Oncogene. 2021 Aug;40(31):4955-4966. doi: 10.1038/s41388-021-01904-4. Epub 2021 Jun 25.
4
Genetic Predisposition to Solid Pediatric Cancers.儿童实体癌的遗传易感性。
Front Oncol. 2020 Oct 28;10:590033. doi: 10.3389/fonc.2020.590033. eCollection 2020.
5
Molecular-Clinical Correlation in Pediatric Medulloblastoma: A Cohort Series Study of 52 Cases in Taiwan.小儿髓母细胞瘤的分子与临床相关性：台湾52例队列系列研究
Cancers (Basel). 2020 Mar 11;12(3):653. doi: 10.3390/cancers12030653.
6
The current landscape of rhabdomyosarcomas: an update.横纹肌肉瘤的现状：更新。
Virchows Arch. 2020 Jan;476(1):97-108. doi: 10.1007/s00428-019-02676-9. Epub 2019 Nov 6.
7
Different Response of Mutant and Wildtype Rhabdomyosarcoma Toward SMO and PI3K Inhibitors.突变型与野生型横纹肌肉瘤对SMO和PI3K抑制剂的不同反应。
Front Oncol. 2018 Sep 25;8:396. doi: 10.3389/fonc.2018.00396. eCollection 2018.
8
Hedgehog pathway mutations drive oncogenic transformation in high-risk T-cell acute lymphoblastic leukemia.Hedgehog 通路突变驱动高危 T 细胞急性淋巴细胞白血病的致癌转化。
Leukemia. 2018 Oct;32(10):2126-2137. doi: 10.1038/s41375-018-0097-x. Epub 2018 Mar 20.
9
Clinical and mutational spectrum of highly differentiated, paired box 3:forkhead box protein o1 fusion-negative rhabdomyosarcoma: A report from the Children's Oncology Group.高度分化、配对盒 3:叉头框蛋白 O1 融合阴性横纹肌肉瘤的临床和突变谱：儿童肿瘤学组的报告。
Cancer. 2018 May 1;124(9):1973-1981. doi: 10.1002/cncr.31286. Epub 2018 Feb 20.
10
Cancer Surveillance in Gorlin Syndrome and Rhabdoid Tumor Predisposition Syndrome.戈林综合征和横纹肌样瘤易感综合征的癌症监测
Clin Cancer Res. 2017 Jun 15;23(12):e62-e67. doi: 10.1158/1078-0432.CCR-17-0595.
本文引用的文献
1
Mutations in Hedgehog pathway genes in fetal rhabdomyomas.Hedgehog 通路基因在胎儿横纹肌瘤中的突变。
J Pathol. 2013 Sep;231(1):44-52. doi: 10.1002/path.4229.
2
Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma.软骨肉瘤中主要软骨胶原基因 COL2A1 的频繁突变。
Nat Genet. 2013 Aug;45(8):923-6. doi: 10.1038/ng.2668. Epub 2013 Jun 16.
3
Mediastinal fetal rhabdomyoma in nevoid basal cell carcinoma syndrome: a case report and review of the literature.
Virchows Arch. 2011 Aug;459(2):235-8. doi: 10.1007/s00428-011-1108-8. Epub 2011 Jun 28.
4
Nevoid basal cell carcinoma syndrome (Gorlin syndrome).痣样基底细胞癌综合征（戈林综合征）。
Orphanet J Rare Dis. 2008 Nov 25;3:32. doi: 10.1186/1750-1172-3-32.
5
A novel somatic mouse model to survey tumorigenic potential applied to the Hedgehog pathway.一种用于检测致瘤潜能的新型体细胞小鼠模型，应用于刺猬信号通路。
Cancer Res. 2006 Oct 15;66(20):10171-8. doi: 10.1158/0008-5472.CAN-06-0657.
6
Rhabdomyosarcoma, Wilms tumor, and deletion of the patched gene in Gorlin syndrome.横纹肌肉瘤、肾母细胞瘤以及戈林综合征中patched基因的缺失。
Nat Clin Pract Oncol. 2006 Oct;3(10):575-80. doi: 10.1038/ncponc0608.
7
Deregulation of the hedgehog signalling pathway: a possible role for the PTCH and SUFU genes in human rhabdomyoma and rhabdomyosarcoma development.刺猬信号通路失调：PTCH和SUFU基因在人类横纹肌瘤及横纹肌肉瘤发生中的可能作用
J Pathol. 2006 Jan;208(1):17-25. doi: 10.1002/path.1882.
8
Nevoid basal cell carcinoma syndrome and fetal rhabdomyoma: a case study.
Ear Nose Throat J. 2004 Oct;83(10):716-8.
9
Novel genomic imbalances in embryonal rhabdomyosarcoma revealed by comparative genomic hybridization and fluorescence in situ hybridization: an intergroup rhabdomyosarcoma study.通过比较基因组杂交和荧光原位杂交揭示的胚胎性横纹肌肉瘤中的新型基因组失衡：一项横纹肌肉瘤组间研究
Genes Chromosomes Cancer. 2000 Apr;27(4):337-44. doi: 10.1002/(sici)1098-2264(200004)27:4<337::aid-gcc1>3.0.co;2-1.
10
Rhabdomyosarcomas and radiation hypersensitivity in a mouse model of Gorlin syndrome.戈林综合征小鼠模型中的横纹肌肉瘤与辐射超敏反应
Nat Med. 1998 May;4(5):619-22. doi: 10.1038/nm0598-619.
Zotero 插件