Jones Derek H, Caracciolo Jamie T, Hodul Pamela J, Strosberg Jonathan R, Coppola Domenico, Bui Marilyn M
Department of Anatomic Pathology, Moffitt Cancer Center, Tampa, FL 33612, USA.
Cancer Control. 2015 Jan;22(1):102-8. doi: 10.1177/107327481502200113.
As with cases of sporadic gastrointestinal stromal tumor (GIST), familial GIST syndrome arises from mutations in KIT or PDGFRA. Only a few dozen such families have been described in the literature.
Cases of 2 individuals from 2 different newly described kindreds with familial GIST syndrome were retrospectively reviewed. Pertinent immunohistochemical stains, including CD117, CD34, DOG1, desmin, and S100, were performed. Samples from each case were sent to outside facilities for molecular analysis. A review of the relevant literature was performed and the number of familial GIST syndrome cases reported was updated through July 2014.
In case 1, a woman 40 years of age with a family history of GIST presented with abdominal pain and gastrointestinal bleeding. Biopsy of a gastric mass revealed spindle-cell type GIST. Molecular analysis revealed a heterozygous mutation of p.Asp579del in exon 11 of KIT. The patient was placed on imatinib therapy and an initial positive response was demonstrated by imaging. Disease regression was seen on computed tomography, and several GIST tumors were surgically resected. The patient has had stable disease since surgery. In case 2, an asymptomatic woman 29 years of age presented for screening due to a family history of GIST. One small nodule was noted in her stomach and another was noted in the duodenum; both were surgically resected. The patient recovered well following surgery. The GIST in this patient was noted to have similar histological, immunohistochemical, and molecular findings as case 1.
Imatinib has often been shown to be an effective therapy in both the familial and sporadic forms of GIST. There is no standard protocol for addressing the surveillance of patients with spindle-cell type GIST seen in the setting of familial GIST syndrome and with a p.Asp579del mutation of exon 11 on KIT.
与散发性胃肠道间质瘤（GIST）病例一样，家族性GIST综合征源于KIT或PDGFRA基因突变。文献中仅描述了几十例此类家族。
对来自2个不同的新描述的家族性GIST综合征家族的2例患者进行回顾性研究。进行了相关的免疫组织化学染色，包括CD117、CD34、DOG1、结蛋白和S100。将每个病例的样本送往外部机构进行分子分析。对相关文献进行了综述，并更新了截至2014年7月报告的家族性GIST综合征病例数。
病例1，一名40岁有GIST家族史的女性，出现腹痛和胃肠道出血。胃肿块活检显示为梭形细胞型GIST。分子分析显示KIT外显子11存在p.Asp579del杂合突变。患者接受伊马替尼治疗，影像学显示最初有阳性反应。计算机断层扫描显示疾病消退，多个GIST肿瘤被手术切除。自手术以来患者病情稳定。病例2，一名29岁无症状女性因GIST家族史前来筛查。在她的胃中发现一个小结节，十二指肠中发现另一个；两者均被手术切除。患者术后恢复良好。该患者的GIST在组织学、免疫组织化学和分子学结果上与病例1相似。
伊马替尼在家族性和散发性GIST中通常都被证明是一种有效的治疗方法。对于在家族性GIST综合征背景下出现且KIT外显子11存在p.Asp579del突变的梭形细胞型GIST患者，目前尚无标准的监测方案。
