Wilms tumor, pleuropulmonary blastoma, and DICER1: case report and literature review

Abstract

Background: 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.

Case presentation: 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.

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.

Keywords: DICER 1; Pleuropulmonary blastoma; Wilms tumor.

Fig. 1

CT scan evolution through pre-operative chemotherapy. a, b Pulmonary and renal lesions at diagnosis. c, d Good response after WT chemotherapy. e, f Dramatic pre-operative evolution after modification of the chemotherapy drugs, which led to emergency pneumonectomy due to acute symptoms. Arrows indicate the narrowing pulmonary artery

Fig. 2

Heterozygous TTCT deletion detected by next-generation sequencing (Ion Torrent, AmpliSeq custom panel) in the exon 23 of the DICER1 gene (LRG_492, gray arrow), 320× coverage reads (Integrative Genomic Viewer software). Confirmation of the TTCT deletion by Sanger sequencing (black arrow)