Pediatric Surgery Department, Children's Hospital of Toulouse, CHU Toulouse, 330 Avenue de Grande Bretagne, 31059, Toulouse, France.
Thoracic Surgery Department, Hôpital Larrey, CHU Toulouse, Toulouse, France.
World J Surg Oncol. 2018 Aug 10;16(1):164. doi: 10.1186/s12957-018-1469-4.
Pleuroblastoma (PPB) is a rare pediatric tumor which, in 30% of cases, is associated with cystic nephroma. It has been recently linked to the DICER1 mutation as part of a predisposition syndrome for various tumors. However, if DICER 1 anomalies have been reported in patients with Wilms tumor (WT), to date, no cases of PPB, WT, and DICER1 mutations have been reported in the same patient.
We report the case of a 3-year-old patient, initially managed for metastatic WT. During his clinical course, the diagnosis of a PPB was made after detecting the DICER1 mutation and subsequent management was therefore modified.
This case highlights that in case of simultaneous discovery of a renal tumor and a pulmonary lesion in a child, the DICER 1 mutations should be looked for as these could help adapt management and schedule the surgical procedures.
胸膜肺母细胞瘤 (PPB) 是一种罕见的儿科肿瘤，其中 30%的病例与囊性肾瘤有关。最近，它与 DICER1 突变有关，作为各种肿瘤易感性综合征的一部分。然而，如果 DICER 1 异常已在肾母细胞瘤 (WT) 患者中报道，迄今为止，尚未在同一患者中报告过 PPB、WT 和 DICER1 突变的病例。
我们报告了一例 3 岁患者，最初因转移性 WT 接受治疗。在他的临床病程中，在检测到 DICER1 突变后诊断为胸膜肺母细胞瘤，因此对后续管理进行了修改。
该病例强调，在儿童同时发现肾肿瘤和肺部病变的情况下，应寻找 DICER 1 突变，因为这有助于调整管理并安排手术。
