Boman Françoise, Hill D Ashley, Williams Gretchen M, Chauvenet Allen, Fournet Jean-Christophe, Soglio Dorothée Bouron-Dal, Messinger Yoav, Priest John R
Department of Pathology, University Hospital of Lille, Lille, France.
J Pediatr. 2006 Dec;149(6):850-854. doi: 10.1016/j.jpeds.2006.08.068.
To characterize the association of pleuropulmonary blastoma (PPB) with cystic nephroma (CN) and other renal tumors.
Complete clinicopathologic review of cases from the International PPB Registry and literature.
We identified 18 patients with PPB associated with 20 renal tumors (15 CN), either in themselves or family members. All patients with PPB were <5 years of age. All but one of the renal diagnoses were made before 4 years of age. Eleven children had both PPB and renal tumor, one of whom also had a sibling with CN. Six children with PPB alone had one or more family members with CN. The mother of one child with PPB had Wilms' tumor. Pulmonary disease was bilateral in four patients. Renal disease was bilateral in three patients. Two children with PPB and bilateral renal cystic tumors also had intussusceptions because of small bowel juvenile polyps. In six families, dysplasia/neoplasia affected organs other than lung and kidney.
CN or related tumors were found in 9.2% of 152 Registry-reviewed PPB cases. The occurrence of rare pulmonary and renal tumors together in patients and/or family members, the early age of onset, and the multiplicity of tumors is compatible with a constitutional genetic predisposition.
描述肺胚细胞瘤（PPB）与囊性肾瘤（CN）及其他肾肿瘤之间的关联。
对国际PPB登记处的病例及文献进行全面的临床病理回顾。
我们确定了18例患有PPB的患者，这些患者本身或其家庭成员患有20例肾肿瘤（15例为CN）。所有PPB患者年龄均小于5岁。除1例之外，所有肾部诊断均在4岁之前做出。11名儿童同时患有PPB和肾肿瘤，其中1名儿童的兄弟姐妹也患有CN。6名单独患有PPB的儿童有1名或多名患有CN的家庭成员。1名患有PPB的儿童的母亲患有威尔姆斯瘤。4例患者的肺部疾病为双侧性。3例患者的肾病为双侧性。2名患有PPB和双侧肾囊性肿瘤的儿童还因小肠幼年息肉出现肠套叠。在6个家庭中，发育异常/肿瘤形成影响了肺和肾以外的器官。
在152例经登记处审核的PPB病例中，9.2%发现有CN或相关肿瘤。患者和/或其家庭成员同时出现罕见的肺部和肾部肿瘤、发病年龄早以及肿瘤的多发性与遗传性基因易感性相符。
