Bergman W, van Voorst Vader P C, Ruiter D J
Academisch Ziekenhuis, afd. Huidziekten, Leiden.
Ned Tijdschr Geneeskd. 1997 Oct 18;141(42):2010-4.
Consensus was recently reached in the Netherlands regarding the clinical management of dysplastic naevi and the definitions in clinical and pathological diagnostics. The term 'dysplastic' is reserved for histological diagnostics; the term preferred for clinical use is 'clinically atypical naevus'. A naevus is defined as clinically atypical if it meets three of the following five criteria: > or = 5 mm in diameter, vaguely bordered, asymmetrically shaped, irregularly pigmented and a red hue (erythema). Presence of clinically atypical naevi is a main risk factor for melanoma. Dysplastic naevus syndrome (DNS) is present if a patient has a melanoma and one or several clinically atypical naevi. The diagnosis of 'familial DNS' (familial atypical multiple mole-melanoma syndrome, abbreviation FAMMM syndrome) is made if at least two close relatives (including the patient) are known with a melanoma with or without atypical naevi, while one or several (other) relatives have atypical naevi. The risk of melanoma in a gene carrier of familial DNS is close to 100%, while multiple melanomas develop in 30% of the gene carriers. No DNA diagnostics is yet possible in most DNS/FAMMM families, because of the involvement of genes yet unknown. Accordingly, at present it is still too early for DNA diagnostics. Currently, therefore, the diagnosis is based only on anamnestic, clinical and histological grounds.
荷兰最近就发育异常痣的临床管理以及临床和病理诊断中的定义达成了共识。“发育异常”一词仅用于组织学诊断;临床使用中首选的术语是“临床非典型痣”。如果痣符合以下五个标准中的三个,则被定义为临床非典型:直径≥5毫米、边界模糊、形状不对称、色素沉着不规则以及有红色色调(红斑)。临床非典型痣的存在是黑色素瘤的主要危险因素。如果患者患有黑色素瘤且有一个或多个临床非典型痣,则存在发育异常痣综合征(DNS)。如果已知至少两个近亲(包括患者)患有黑色素瘤,无论有无非典型痣,而一个或几个(其他)亲属有非典型痣,则可诊断为“家族性DNS”(家族性非典型多发性痣-黑色素瘤综合征,缩写为FAMMM综合征)。家族性DNS基因携带者患黑色素瘤的风险接近100%,30%的基因携带者会发生多发性黑色素瘤。由于涉及未知基因,目前大多数DNS/FAMMM家族还无法进行DNA诊断。因此,目前进行DNA诊断还为时过早。所以,目前诊断仅基于既往史、临床和组织学依据。