Buecher Bruno, Baert-Desurmont Stéphanie, Leborgne Joël, Humeau Benoît, Olschwang Sylviane, Frébourg Thierry
Department of Genetics, Georges Pompidou European Hospital, Paris, France.
Eur J Gastroenterol Hepatol. 2008 Oct;20(10):1024-7. doi: 10.1097/MEG.0b013e3282f5f749.
Mut Y human homologue-associated polyposis is a recently described colorectal adenomatous polyposis with an autosomal recessive mode of inheritance. Several extracolonic manifestations have been reported in patients affected by Mut Y human homologue-associated polyposis (MAP). Among these, duodenal polyposis, a highly prevalent manifestation of Adenomatous Polyposis Coli related familial adenomatous polypyposis, is undoubtedly part of the clinical spectrum of the disease. The true association of other clinical manifestations with MAP remains questionable.We report the observation of two patients affected by MAP who developed an adenocarcinoma of the duodenum in the context of duodenal polyposis. These observations emphasize the malignant potential of MAP-associated duodenal polyposis and the need to enroll these patients into an upper gastrointestinal surveillance programme. Moreover, one of our patients was also diagnosed with a scapular chondrosarcoma, the other one with a high-grade astrocytoma. Although these tumours may be coincidental, we cannot rule out a real albeit rare association with MAP.
Mut Y人类同源物相关息肉病是一种最近被描述的结直肠腺瘤性息肉病，呈常染色体隐性遗传模式。据报道，受Mut Y人类同源物相关息肉病（MAP）影响的患者有几种结肠外表现。其中，十二指肠息肉病是与腺瘤性息肉病相关的家族性腺瘤性息肉病的一种高度常见表现，无疑是该疾病临床谱的一部分。其他临床表现与MAP的真正关联仍存在疑问。我们报告了两名受MAP影响的患者，他们在十二指肠息肉病的背景下发生了十二指肠腺癌。这些观察结果强调了MAP相关十二指肠息肉病的恶性潜能以及将这些患者纳入上消化道监测计划的必要性。此外，我们的一名患者还被诊断出患有肩胛骨软骨肉瘤，另一名患有高级别星形细胞瘤。尽管这些肿瘤可能是巧合，但我们不能排除与MAP存在真实但罕见的关联。
