Pediatric Head and Neck Tumors Associated with Li-Fraumeni Syndrome
Pediatric Head and Neck Tumors Associated with Li-Fraumeni Syndrome
复制标题
与 Li-Fraumeni 综合征相关的小儿头颈肿瘤
DOI：
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发表时间：
2021
期刊：
影响因子：
--
通讯作者：
B. W. Herrmann
中科院分区：
文献类型：
--
作者：
Kenny D. Rodriguez;K. Schneider;Alexandra Suttman;T. Garrington;T. Jellins;Kaitlyn Tholen;C. Francom;B. W. Herrmann
简介：癌症易感综合症是基因中的种系致病性变异，大大增加了患肿瘤疾病的风险。其中最著名的一种是 Li-Fraumeni 综合征 (LFS)，这是由 TP53 基因的致病性变异引起的。患有 LFS 的儿童在成年前患多种恶性肿瘤的风险较高，通常为罕见和侵袭性亚型。目的：调查三级儿童医院20年来收治的LFS儿童的头颈部表现。方法：对 2000 年至 2019 年在传统耳鼻喉科头颈亚部位出现的肿瘤性疾病 LFS 儿童进行回顾性分析，并回顾患者病历中的相关临床、影像和手术数据。结果：在最初确定的 40 名 LFS 患者中，该队列中的 20 名儿童中发现了 27 例肿瘤（20 名原发性肿瘤，7 名第二原发性肿瘤）。其中 22% (6/27) 的肿瘤涉及除大脑或眼眶以外的头颈亚部位，占原发性肿瘤的 20% (4/20) 和第二原发性肿瘤的 29% (2/7)。头部和颈部内的两个第二原发肿瘤均位于第一个原发肿瘤的放射野内。初次和第二次初次诊断的平均年龄分别为 4.6 岁 (SD 3.5) 和 12 岁 (SD 1.4)。所有头颈部肿瘤患者的男女比例为1：6。 6 个头颈部肿瘤均为肉瘤。横纹肌肉瘤（N = 3，50%）是最常见的病理，其他3种罕见的肿瘤病理亚型（滑膜细胞肉瘤、多形性粘液样脂肪肉瘤、下颌骨骨肉瘤）。颈部是该组中原发性肿瘤最常见的亚部位（75%）。结论：这项研究发现 LFS 儿童头颈受累的可能性很高，这在以前的文献中没有描述过。耳鼻喉科护理应纳入监测这些患者的多学科护理团队中。
Introduction: Cancer predisposition syndromes are germline pathogenic variants in genes that greatly raise the risk of developing neoplastic diseases. One of the most well-known is Li-Fraumeni syndrome (LFS), which is due to pathogenic variants in the TP53 gene. Children with LFS have higher risks for multiple malignancies before adulthood, often with rare and aggressive subtypes. Objective: To examine head and neck manifestations of LFS in children treated at a tertiary children’s hospital over a 20-year period. Methods: A retrospective review of LFS children with neoplastic disease presenting in traditional Otolaryngologic head and neck subsites from 2000 to 2019, with patient charts reviewed for relevant clinical, imaging, and operative data. Results: Of the 40 LFS patients initially identified, 27 neoplastic tumors were identified in 20 children within this cohort (20 primary, 7 second primary). Head and neck subsites aside from the brain or orbit were involved in 22% (6/27) of these tumors, representing 20% (4/20) of primary tumors and 29% (2/7) of second primary tumors. Both second primaries within the head and neck were within the radiation fields of the first primary tumor. The mean ages at primary and second primary diagnosis were 4.6 years (SD 3.5) and 12 years (SD 1.4), respectively. The male/female ratio was 1:6 among all patients with head and neck tumors. All 6 head and neck tumors were sarcomas. Rhabdomyosarcoma (N = 3, 50%) was the most common pathology, and the other 3 demonstrated rare tumor pathological subtypes (synovial cell sarcoma, pleomorphic myxoid liposarcoma, mandibular osteosarcoma). The neck was the most common subsite (75%) within this group for primary tumor presentation. Conclusion: This study identifies a high potential for head and neck involvement in children with LFS, which has not been previously described in the literature. Otolaryngological care should be included in a multidisciplinary care team surveilling these patients.
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影响因子：
56.9
作者：
MALKIN, D;LI, FP;FRIEND, SH
通讯作者：
FRIEND, SH
影响因子：
11.2
作者：
Julian;M. Birch;A. Hartley;K. Tricker;Jane Presser;Alison;Condie;A. Kelsey;Martin;Harris;Patricia;H. M. Jones;Áine Binchy;D. Crowther;A. Craft;Osborne;B. Eden;D. Gareth;R. Evans;E. B. Thompson;R. Mann;John F Martin;E. Mitchell;Mauro F. SantibÃ
通讯作者：
Julian;M. Birch;A. Hartley;K. Tricker;Jane Presser;Alison;Condie;A. Kelsey;Martin;Harris;Patricia;H. M. Jones;Áine Binchy;D. Crowther;A. Craft;Osborne;B. Eden;D. Gareth;R. Evans;E. B. Thompson;R. Mann;John F Martin;E. Mitchell;Mauro F. SantibÃ
影响因子：
10.3
作者：
Hisada, M;Garber, JE;Li, FP
通讯作者：
Li, FP
影响因子：
158.5
作者：
Cunningham, Rebecca M.;Walton, Maureen A.;Carter, Patrick M.
通讯作者：
Carter, Patrick M.
第三个 Li-Fraumeni 综合征易感位点到人类染色体 1q23 的遗传图谱。
DOI：
--
发表时间：
2005
期刊：
Cancer research.
影响因子：
--
作者：
Bachinski,LindaL;Olufemi,Shodimu-Emmanuel;Zhou,Xiaojun;Wu,Chih-Chieh;Yip,Linwah;Shete,Sanjay;Lozano,Guillermina;Amos,ChristopherI;Strong,LouiseC;Krahe,Ralf
通讯作者：
Krahe,Ralf