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Frequency and characteristics of familial melanoma in Spain: the FAM-GEM-1 Study.西班牙家族性黑色素瘤的发病率及特征:FAM-GEM-1研究
PLoS One. 2015 Apr 13;10(4):e0124239. doi: 10.1371/journal.pone.0124239. eCollection 2015.
2
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J Eur Acad Dermatol Venereol. 2008 Aug;22(8):931-6. doi: 10.1111/j.1468-3083.2008.02682.x. Epub 2008 Mar 19.
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Familial and sporadic melanoma: different clinical and histopathological features in the Italian population - a multicentre epidemiological study - by GIPMe (Italian Multidisciplinary Group on Melanoma).家族性和散发性黑色素瘤:意大利人群中的不同临床和组织病理学特征 - 一项多中心流行病学研究 - 由 GIPMe(意大利黑色素瘤多学科小组)进行。
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Characteristics of Familial Melanoma in Valencia, Spain, Based on the Presence of CDKN2A Mutations and MC1R Variants.基于 CDKN2A 突变和 MC1R 变体的存在,对西班牙巴伦西亚家族性黑色素瘤的特征分析。
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Multiple primary (even in situ) melanomas in a patient pose significant risk to family members.患者出现多发性原发性(甚至原位)黑色素瘤会给家庭成员带来重大风险。
Eur J Cancer. 2014 Oct;50(15):2659-67. doi: 10.1016/j.ejca.2014.07.007. Epub 2014 Aug 4.
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Population-based analysis of prognostic factors and survival in familial melanoma.基于人群的家族性黑色素瘤预后因素及生存分析。
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Hereditary melanoma: a five-year study of Brazilian patients in a cancer referral center - phenotypic characteristics of probands and pathological features of primary tumors.遗传性黑色素瘤:在一家癌症转诊中心对巴西患者进行的五年研究——先证者的表型特征及原发性肿瘤的病理特征
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PLoS One. 2017 Oct 6;12(10):e0184181. doi: 10.1371/journal.pone.0184181. eCollection 2017.

本文引用的文献

1
The role of melanin pigment in melanoma.黑色素在黑色素瘤中的作用。
Exp Dermatol. 2015 Apr;24(4):258-9. doi: 10.1111/exd.12618.
2
Multiple primary (even in situ) melanomas in a patient pose significant risk to family members.患者出现多发性原发性(甚至原位)黑色素瘤会给家庭成员带来重大风险。
Eur J Cancer. 2014 Oct;50(15):2659-67. doi: 10.1016/j.ejca.2014.07.007. Epub 2014 Aug 4.
3
Increased prevalence of lung, breast, and pancreatic cancers in addition to melanoma risk in families bearing the cyclin-dependent kinase inhibitor 2A mutation: implications for genetic counseling.携带细胞周期蛋白依赖性激酶抑制剂2A突变的家族中,除黑色素瘤风险外,肺癌、乳腺癌和胰腺癌的患病率增加:对遗传咨询的意义。
J Am Acad Dermatol. 2014 Nov;71(5):888-95. doi: 10.1016/j.jaad.2014.06.036. Epub 2014 Jul 24.
4
High risk of tobacco-related cancers in CDKN2A mutation-positive melanoma families.CDKN2A 突变阳性黑色素瘤家族中患烟草相关癌症的高风险。
J Med Genet. 2014 Aug;51(8):545-52. doi: 10.1136/jmedgenet-2014-102320. Epub 2014 Jun 16.
5
Unaffected family members report improvements in daily routine sun protection 2 years following melanoma genetic testing.未受影响的家庭成员报告称,在进行黑色素瘤基因检测两年后,他们在日常防晒方面有所改善。
Genet Med. 2014 Nov;16(11):846-53. doi: 10.1038/gim.2014.37. Epub 2014 Apr 24.
6
Multiple primary melanomas versus single melanoma of the head and neck: a comparison of genetic, diagnostic, and therapeutic implications.多发性头颈部原发性黑色素瘤与单发头颈部黑色素瘤:遗传、诊断和治疗意义的比较。
Melanoma Res. 2014 Jun;24(3):267-72. doi: 10.1097/CMR.0000000000000057.
7
Melanoma genetic counseling and test reporting improve screening adherence among unaffected carriers 2 years later.黑色素瘤遗传咨询和检测报告可提高 2 年后未受影响携带者的筛查依从性。
Cancer Epidemiol Biomarkers Prev. 2013 Oct;22(10):1687-97. doi: 10.1158/1055-9965.EPI-13-0422. Epub 2013 Aug 15.
8
Melanoma genetic testing, counseling, and adherence to skin cancer prevention and detection behaviors.黑色素瘤基因检测、咨询以及对皮肤癌预防和检测行为的依从性。
Cancer Epidemiol Biomarkers Prev. 2013 Apr;22(4):607-14. doi: 10.1158/1055-9965.EPI-12-1174. Epub 2013 Feb 7.
9
Genetic counseling in melanoma.黑色素瘤的遗传咨询。
Dermatol Ther. 2012 Sep-Oct;25(5):397-402. doi: 10.1111/j.1529-8019.2012.01499.x.
10
Tumor-infiltrating lymphocyte grade is an independent predictor of sentinel lymph node status and survival in patients with cutaneous melanoma.肿瘤浸润淋巴细胞分级是预测皮肤黑色素瘤患者前哨淋巴结状态和生存的独立预测因子。
J Clin Oncol. 2012 Jul 20;30(21):2678-83. doi: 10.1200/JCO.2011.37.8539. Epub 2012 Jun 18.

西班牙家族性黑色素瘤的发病率及特征:FAM-GEM-1研究

Frequency and characteristics of familial melanoma in Spain: the FAM-GEM-1 Study.

作者信息

Márquez-Rodas Iván, Martín González Manuel, Nagore Eduardo, Gómez-Fernández Cristina, Avilés-Izquierdo Jose Antonio, Maldonado-Seral Cayetana, Soriano Virtudes, Majem-Tarruella Margarita, Palomar Virginia, Maseda Rocio, Martín-Carnicero Alfonso, Puertolas Teresa, Godoy Elena, Cerezuela Pablo, Ochoa de Olza Maria, Campos Begoña, Perez-Ruiz Elisabeth, Soria Ainara, Gil-Arnaiz Irene, Gonzalez-Cao Maria, Galvez Elisa, Arance Ana, Belon Joaquin, de la Cruz-Merino Luis, Martín-Algarra Salvador

机构信息

Servicio de Oncología Médica, Instituto de Investigación Sanitaria Gregorio Marañón, Madrid, Spain.

Servicio de Dermatología, Hospital Ramón y Cajal, Madrid, Spain.

出版信息

PLoS One. 2015 Apr 13;10(4):e0124239. doi: 10.1371/journal.pone.0124239. eCollection 2015.

DOI:
10.1371/journal.pone.0124239
PMID:25874698
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4395344/
Abstract

INTRODUCTION

Familial history of melanoma is a well-known risk factor for the disease, and 7% melanoma patients were reported to have a family history of melanoma. Data relating to the frequency and clinical and pathological characteristics of both familial and non-familial melanoma in Spain have been published, but these only include patients from specific areas of Spain and do not represent the data for the whole of Spain.

PATIENTS AND METHODS

An observational study conducted by the Spanish Group of Melanoma (GEM) analyzed the family history of patients diagnosed with melanoma between 2011 and 2013 in the dermatology and oncology departments.

RESULTS

In all, 1047 patients were analyzed, and 69 (6.6%) fulfilled criteria for classical familial melanoma (two or more first-degree relatives diagnosed with melanoma). Taking into account other risk factors for familial melanoma, such as multiple melanoma, pancreatic cancer in the family or second-degree relatives with melanoma, the number of patients fulfilling the criteria increased to 165 (15.8%). Using a univariate analysis, we determined that a Breslow index of less than 1 mm, negative mitosis, multiple melanoma, and a history of sunburns in childhood were more frequent in familial melanoma patients, but a multivariate analysis revealed no differences in any pathological or clinical factor between the two groups.

CONCLUSIONS

Similar to that observed in other countries, familial melanoma accounts for 6.6% of melanoma diagnoses in Spain. Although no differences in the multivariate analysis were found, some better prognosis factors, such as Breslow index, seem more frequent in familial melanoma, which reflect a better early detection marker and/or a different biological behavior.

摘要

引言

黑色素瘤家族史是该疾病一个众所周知的风险因素,据报道7%的黑色素瘤患者有黑色素瘤家族史。关于西班牙家族性和非家族性黑色素瘤的发病率以及临床和病理特征的数据已经发表,但这些数据仅包括西班牙特定地区的患者,并不代表整个西班牙的数据。

患者与方法

西班牙黑色素瘤研究小组(GEM)进行的一项观察性研究分析了2011年至2013年间在皮肤科和肿瘤科诊断为黑色素瘤的患者的家族史。

结果

总共分析了1047例患者,其中69例(6.6%)符合经典家族性黑色素瘤的标准(两个或更多一级亲属被诊断为黑色素瘤)。考虑到家族性黑色素瘤的其他风险因素,如多发性黑色素瘤、家族性胰腺癌或有黑色素瘤的二级亲属,符合标准的患者数量增加到165例(15.8%)。通过单因素分析,我们确定家族性黑色素瘤患者中Breslow指数小于1mm、有丝分裂阴性、多发性黑色素瘤以及儿童期晒伤史更为常见,但多因素分析显示两组在任何病理或临床因素上均无差异。

结论

与其他国家观察到的情况类似,家族性黑色素瘤占西班牙黑色素瘤诊断病例的6.6%。虽然在多因素分析中未发现差异,但一些预后较好的因素,如Breslow指数,在家族性黑色素瘤中似乎更为常见,这反映了更好的早期检测标志物和/或不同的生物学行为。