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Abstract：
UNASSIGNED: Familial paraganglioma syndrome type 4 is associated with mutations in the succinate dehydrogenase complex subunit B (SDHB) gene. We report the case of a patient with familial paraganglioma syndrome type 4 with the mutation c.600G>T; p.Trp200Cys who developed a gastric gastrointestinal stromal tumor (GIST) with a KIT mutation.
UNASSIGNED: Clinical, radiographic, and genetic data have been presented.
UNASSIGNED: A 40-year-old man with familial paraganglioma syndrome type 4 and recurrent paraganglioma presented with epigastric pain. He had undergone resection of a paraganglioma superior to the right adrenal gland at 19 years of age, resection of two para-aortic paragangliomas at 39 years, and resection of a paraganglioma in the interatrial septum at 40 years. Computed tomography scan showed a 3.2 × 3.8-cm gastric body intraluminal polypoid mass. A partial gastrectomy was performed, which revealed a GIST with a KIT mutation (NM_000222.2[KIT]:c.2466T>A[p.Asn822Lys]).
UNASSIGNED: This case provides further evidence that mutations in SDHB and KIT are not mutually exclusive with GISTs. It also identifies the need for endoscopic evaluation for GIST in patients with familial paraganglioma syndrome type 4 with unexplained gastrointestinal symptoms.
UNASSIGNED: Clinical, radiographic, and genetic data have been presented.
UNASSIGNED: A 40-year-old man with familial paraganglioma syndrome type 4 and recurrent paraganglioma presented with epigastric pain. He had undergone resection of a paraganglioma superior to the right adrenal gland at 19 years of age, resection of two para-aortic paragangliomas at 39 years, and resection of a paraganglioma in the interatrial septum at 40 years. Computed tomography scan showed a 3.2 × 3.8-cm gastric body intraluminal polypoid mass. A partial gastrectomy was performed, which revealed a GIST with a KIT mutation (NM_000222.2[KIT]:c.2466T>A[p.Asn822Lys]).
UNASSIGNED: This case provides further evidence that mutations in SDHB and KIT are not mutually exclusive with GISTs. It also identifies the need for endoscopic evaluation for GIST in patients with familial paraganglioma syndrome type 4 with unexplained gastrointestinal symptoms.
摘要：
■4型家族性副神经节瘤综合征与琥珀酸脱氢酶复合物亚基B（SDHB）基因突变相关。我们报告了一例家族性副神经节瘤综合征4型患者，其突变为c.600G>T;p.Trp200Cys，其发展为具有KIT突变的胃胃肠道间质瘤（GIST）。
■临床，射线照相,和遗传数据已经提交。
■一名患有4型家族性副神经节瘤综合征和复发性副神经节瘤的40岁男性患者表现为上腹痛。他在19岁时切除了右肾上腺上的副神经节瘤，在39岁时切除了两个主动脉旁神经节瘤，40岁时切除房间隔副神经节瘤。计算机断层扫描显示3.2×3.8厘米的胃体腔内息肉样肿块。进行了部分胃切除术，显示具有KIT突变的GIST（NM_000222.2[KIT]：c.2466T>A[p。Asn822Lys]).
■这种情况提供了进一步的证据，表明SDHB和KIT中的突变与GIST并非相互排斥。它还确定了对患有4型家族性副神经节瘤综合征并伴有无法解释的胃肠道症状的患者进行GIST内镜评估的必要性。
■临床，射线照相,和遗传数据已经提交。
■一名患有4型家族性副神经节瘤综合征和复发性副神经节瘤的40岁男性患者表现为上腹痛。他在19岁时切除了右肾上腺上的副神经节瘤，在39岁时切除了两个主动脉旁神经节瘤，40岁时切除房间隔副神经节瘤。计算机断层扫描显示3.2×3.8厘米的胃体腔内息肉样肿块。进行了部分胃切除术，显示具有KIT突变的GIST（NM_000222.2[KIT]：c.2466T>A[p。Asn822Lys]).
■这种情况提供了进一步的证据，表明SDHB和KIT中的突变与GIST并非相互排斥。它还确定了对患有4型家族性副神经节瘤综合征并伴有无法解释的胃肠道症状的患者进行GIST内镜评估的必要性。
