直肠浸润/转移性去分化脊索瘤与施密特综合征之间的奇怪联系

E. Shahini, E. Maldi, T. Staiano
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摘要

一名57岁的高加索女性,在我们的内窥镜检查室就诊,她抱怨在过去的两周内发生了几次直肠出血,伴有下腹和背部疼痛、轻度体重减轻和乏力。出现时,患者血流动力学稳定。她的实验室检查显示,正常细胞性贫血为10g/dL,肌酸激酶增加264U/L,轻度低钾血症(3.4mEq/L)。此外,她报告了胃癌症家族史(父亲),我们的肿瘤中心对她进行了复发性肿瘤疾病和全身性自身免疫性疾病的监测,多年来,她一直在接受放疗、甲磺酸伊马替尼、类固醇、左甲状腺素和塞米司他唑膦酸周期的稳定治疗。在她接受了柔性乙状结肠镜检查后,在(图1)和(图2)中发现了一个巨大的溃疡性直肠肿块,怀疑来源于顶外。从正常粘膜和溃疡中分别获得多个随机活检。
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A Strange Association Between A Rectum- Infiltrating / Metastatic Dedifferentiated Chordoma And Schmidt’s Syndrome
A 57-year-old Caucasian woman, presented to our Endoscopy Unit, complaining several episodes of rectal bleeding during the last 2 weeks, associated with lower abdominal and back pain, mild weight loss and asthenia. On presentation, the patient was hemodynamically stable. Her laboratory tests showed normocytic anemia of 10g/dL, increase of creatine chinase of 264U/L, and mild hypopotassemia (3.4 mEq/l). Moreover, she reported a family history for gastric cancer (father), and she was surveilled by our Oncological center for a recurrent neoplastic disease and for a systemic autoimmune disease, for many years stable under treatment with cycles of radiotherapy, imatinib mesylate, steroids, levothyroxine, and semestral zoledronic acid. After she underwent flexible sigmoidoscopy, a bulky ulcerated rectal mass, of suspected extraparietal origin, was revealed in (Figure 1) and (Figure 2). Multiple random biopsies were obtained from the normal mucosa as well as separately from the ulcers.
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