Department of Dermatology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Department of Clinical Genetics, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Clin Exp Dermatol. 2019 Jun;44(4):418-421. doi: 10.1111/ced.13757. Epub 2018 Oct 2.
Gastrointestinal stromal tumours (GISTs) are mesenchymal tumours arising in the gastrointestinal tract. Early detection, before metastasis occurs, is important as complete surgical excision achieves cure. Approximately 85% of GISTs are associated with mutations in the KIT gene, and although the majority of GISTs are sporadic, familial GISTs have been identified. Several families with multiple GIST tumours have also been described with various cutaneous findings including hyperpigmentation, multiple lentigines, vitiligo and urticaria pigmentosa. We discuss a 6-year-old boy who presented with an unusual pattern of hyperpigmentation in association with a family history of GIST. A causative KIT mutation was identified in DNA from the pigmented skin and from the resected GIST, and the patient was referred to the Paediatric Gastroenterology department for GIST screening. The term 'GIST cutaneous hyperpigmentation disease' has been suggested previously for the association of familial GIST with cutaneous hyperpigmentation caused by a germline KIT mutation.
胃肠道间质瘤（GIST）是起源于胃肠道的间叶性肿瘤。在转移发生之前进行早期检测很重要，因为完全手术切除可以实现治愈。大约 85%的 GIST 与 KIT 基因突变有关，尽管大多数 GIST 是散发性的，但已经确定了家族性 GIST。也有几家有多个 GIST 肿瘤的家族与各种皮肤表现有关，包括色素沉着过度、多发性黑子、白癜风和色素性荨麻疹。我们讨论了一名 6 岁男孩，他因家族性 GIST 而出现不寻常的色素沉着模式。在色素沉着皮肤和切除的 GIST 中均发现了 KIT 突变，患者被转介到儿科胃肠病学部门进行 GIST 筛查。先前曾提出“GIST 皮肤色素沉着疾病”一词，用于家族性 GIST 与由种系 KIT 突变引起的皮肤色素沉着之间的关联。
