Abstract
BackgroundPleuroblastoma (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.Case presentationWe 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.ConclusionThis 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.
Highlights
To date, there have been no cases of PPB, Wilms tumor (WT), and DICER1 mutations in the same patient reported in the literature
* Correspondence: abbo.o@chu-toulouse.fr 1Pediatric Surgery Department, Children’s Hospital of Toulouse, CHU Toulouse, 330 Avenue de Grande Bretagne, 31059 Toulouse, France Full list of author information is available at the end of the article work-up with a CT scan (Fig. 1a, b)
WT can be associated with DICER1 mutations [6]
Summary
Pleuroblastoma (PPB) is a rare pediatric tumor which, in 30% of cases, is associated with cystic nephroma. Conclusion: 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. Background Pleuropulmonary blastoma (PPB) is a rare pediatric tumor with around 500 cases reported [1].
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