Epidemiology, Pathology, and Genetics of Histiocytic Sarcoma in the Bernese Mountain Dog Breed
Epidemiology, Pathology, and Genetics of Histiocytic Sarcoma in the Bernese Mountain Dog Breed
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DOI：
10.1093/jhered/esp039
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发表时间：
2009-07-01
影响因子：
3.1
通讯作者：
Andre, Catherine
中科院分区：
文献类型：
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作者：
Abadie, Jerome;Hedan, Benoit;Andre, Catherine
组织细胞肉瘤（HS）是一种高度侵袭性和经常传播的肿瘤性疾病，属于犬组织细胞增殖性疾病。播散性I-IS（以前称为恶性组织细胞增生症）具有高度的品种特异性，伯尔尼山地犬（BMD）、罗威纳犬和寻回犬在BMD品种中的患病率较高，频率约为25%。我们收集了800例BMD的DNA样本和临床信息，其中200例受I-IS影响。为了更好地表征病理生理学和流行病学，对89例BMD病例进行了深入分析。平均发病年龄为6.5岁，男性和女性受到同样的影响。确定了临床特征、生化指标和病理特征。诊断后的寿命估计为49天。一个大的BM D谱系的327只狗，其中121个是受影响的，组装。使用包含21个完整亲缘关系的160个BMD子集，我们现在提出了该疾病的寡基因传播模式。全基因组连锁扫描以及使用病例/对照分析的关联研究，与肿瘤与正常组织细胞的表达谱平行，都在进行中。总之，这些互补的方法有望本地化的基因在骨密度HS，导致我们的知识在狗和人类的组织细胞疾病的进步。
Histiocytic sarcoma (HS) refers to a highly aggressive and frequently disseminated neoplastic disease belonging to the class of canine histiocytic proliferative disorders. Disseminated I-IS (previously called malignant histiocytosis) is highly breed specific, with Bernese mountain dogs (BMDs), rottweilers, and retrievers having a high prevalence with a frequency of approximately 25%, in the BMD, breed. We collected DNA samples and clinical information from 800 BMDs, of which 200 are affected by I-IS. To better characterize the physiopathology and epidemiology, an in-depth analysis of 89 BMD cases has been performed. The mean age of onset was 6.5 years, males and females being equally affected. The clinical features, biochemical parameters, and pathological features have been determined. The life span after diagnosis has been estimated to be 49 days. A large BM D pedigree of 327 dogs, 121 of which are affected, was assembled. Using a subset of 160 BMDs, encompassing 21 complete sibships, we now propose an oligogenic transmission mode of the disease. Whole-genome linkage scans as wed as association studies using a case/control analysis, in parallel with expression profiling of neoplastic versus normal histiocytes, are all underway. Altogether, these complementary approaches are expected to localize the genes for HS in the BMD, leading to advances in our knowledge of histiocyte diseases in dogs and humans.