Schiemer Moritz, Schmitt-Graeff Annette, Brass Volker, Hasselblatt Peter
Department of Medicine II, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.
Institute of Pathology, Medical Center - University of Freiburg and Faculty of Medicine, University of Freiburg, Germany.
Z Gastroenterol. 2019 Apr;57(4):497-500. doi: 10.1055/a-0855-4404. Epub 2019 Mar 14.
Juvenile polyposis syndrome is a rare autosomal-dominant disorder characterized by multiple hamartomatous polyps in the gastrointestinal tract. It is associated with an increased risk of gastrointestinal cancer. We report the case of a 49-year-old woman presenting with proximal muscle weakness, weight loss, severe anemia, and melena. One year before, the diagnosis of a "fundic gland polyposis" was presumed after endoscopic evaluation for iron deficiency anemia had shown numerous polyps limited to the gastric mucosa. On admission, the diagnosis of dermatomyositis was made based on laboratory results with a marked elevated creatine kinase as well as the presence of characteristic clinical findings and muscle histology. Upper endoscopy revealed multiple pedunculated, edematous polyps in the stomach without apparent cancerous lesions intraluminally. Infiltration of the muscular layer was not detectable on endoscopic ultrasound. Histopathological examination of the polyps showed smooth outer surfaces and multiple dilated cystic glands, consistent with hamartomatous juvenile-type polyps. Magnetic resonance imaging revealed a peritoneal mass close to the greater curvature of the stomach, which was identified as a poorly differentiated adenocarcinoma by laparoscopic sampling. Immunohistochemical analysis of resected polyps was remarkable for a loss of SMAD4 expression, a finding that is very commonly observed in patients with gastric juvenile polyposis syndrome. Despite initial treatment response to glucocorticoids and chemotherapy, the patient died 5 months later due to progressive illness. Patients with gastric juvenile polyposis and SMAD4 mutations are at a high risk of developing gastric cancer; hence, early gastrectomy should be considered.
青少年息肉病综合征是一种罕见的常染色体显性疾病，其特征为胃肠道出现多个错构瘤性息肉。它与胃肠道癌症风险增加相关。我们报告一例49岁女性病例，该患者表现为近端肌无力、体重减轻、严重贫血和黑便。一年前，因缺铁性贫血进行内镜评估显示胃黏膜有大量息肉，当时推测诊断为“胃底腺息肉病”。入院时，根据实验室检查结果（肌酸激酶显著升高）以及特征性临床表现和肌肉组织学检查确诊为皮肌炎。上消化道内镜检查发现胃内有多个带蒂、水肿性息肉，腔内无明显癌性病变。内镜超声检查未发现肌层浸润。息肉的组织病理学检查显示表面光滑，有多个扩张的囊性腺体，符合错构瘤性青少年型息肉。磁共振成像显示胃大弯附近有一个腹膜肿块，通过腹腔镜取样确定为低分化腺癌。切除息肉的免疫组织化学分析显示SMAD4表达缺失，这一发现常见于胃青少年息肉病综合征患者。尽管最初对糖皮质激素和化疗有治疗反应，但患者5个月后因病情进展死亡。患有胃青少年息肉病和SMAD4突变的患者患胃癌风险很高；因此，应考虑早期胃切除术。
