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首页> 外文期刊>British Journal of Cancer >Familial atypical multiple mole melanoma (FAMMM) syndrome: genetic heterogeneity and malignant melanoma
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Familial atypical multiple mole melanoma (FAMMM) syndrome: genetic heterogeneity and malignant melanoma

机译：家族性非典型多发性黑痣（FAMMM）综合征：遗传异质性和恶性黑色素瘤

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摘要

Clinical-pathologic-genetic studies were performed on 3 kindreds showing the familial atypical multiple mole-melanoma syndrome (FAMMM). Findings showed vertical transmission, including father-to-son, of cutaneous malignant melanoma and/or FAMMM moles with no sex predilection. A broad spectrum of clinical signs characterizing the phenotype ranged from an apparent lack of disease expression through minimal, moderate, and florid manifestations. An extreme example was a patient with 9 separate primary melanomas in 18 years. The FAMMM moles were histologically compound nevocellular nevi with varying degrees of dysplasia of the melanocytes, an increased occurrence of fibroplasia, and chronic inflammation within the papillary dermis. Of further interest was marked variation in the degree of dysplasia in moles between and within families. These observations, when coupled with recent reports by others, are consistent with an autosomal dominant gene showing markedly variable expressivity. Management of these patients is difficult, as one cannot be certain which moles require biopsy and then, following histological study, which will require wider excision. Studies of the FAMMM syndrome should deal carefully with its natural history, including the patient's lifelong susceptibility to multiply malignant melanomas, and the possibility that cancer of other anatomic sites may be integral components of this hereditary cancer syndrome.
机译：对3个亲属进行了临床病理遗传学研究，结果显示该家族性非典型多发性黑痣瘤综合征（FAMMM）。研究结果显示，皮肤恶性黑色素瘤和/或FAMMM痣垂直传播，包括父子关系，无性别偏爱。表征该表型的广泛临床症状的范围从明显缺乏疾病表达到最小，中度和轻度表现。一个极端的例子是一名患者在18年中患有9例原发性黑色素瘤。 FAMMM痣是组织学上复合的痣细胞痣，具有不同程度的黑色素细胞异型增生，纤维化增生的发生以及乳头状真皮内的慢性炎症。进一步令人感兴趣的是，家庭之间和家庭内部的痣的发育不良程度的显着变化。这些观察结果，再加上其他人最近的报道，与显示显着可变表达性的常染色体显性基因一致。这些患者的治疗很困难，因为无法确定哪些痣需要活检，然后在进行组织学研究后又需要更广泛的切除。 FAMMM综合征的研究应谨慎处理其自然史，包括患者终生易患恶性黑色素瘤，以及其他解剖部位的癌症可能是该遗传性癌症综合征不可或缺的组成部分的可能性。

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