Judicious DICER1 testing and surveillance imaging facilitates early diagnosis and cure of pleuropulmonary blastoma

Abstract

Pleuropulmonary blastoma (PPB) and Sertoli-Leydig cell tumor (SLCT) are both associated with germline mutations in DICER1. In this brief report, a maternal history of SLCT led to identification of a deleterious DICER1 mutation in the patient and her asymptomatic infant. Radiographic screening revealed a large Type I PPB, which was completely resected. Identification of DICER1 mutation carriers and imaging of children at risk for PPB may allow detection of PPB in its earliest and most curable form, leading to increased likelihood of surgical cure and decreased risks of treatment-related late effects.

Keywords: DICER1; Sertoli-Leydig cell tumor; genetic testing; lung cysts; pleuropulmonary blastoma.

Conflict of interest statement

Conflicts of Interest: The authors each state that he/she has no conflicts of interest to disclose.

© 2014 Wiley Periodicals, Inc.

Figures

Figure 1

A) Chest radiograph performed at 3 months of age showing cystic lesion in right lower lobe. B) Computed tomography of the chest performed at 3 months of age showing an 8.8 × 6.2 × 3.1 multi-septated cyst in the right lower lobe.

Figure 2

Pathologic examination showed characteristic features of Type I PPB. A) The lung cyst shows long interconnecting septa with variable cellularity. B) Small cartilage nodules were seen focally. C,D) No well-developed cambium layers were noted, but there were scattered subepithelial collections of primitive, mitotically active cells. (Hematoxylin and eosin: original magnification × 100 (A); × 200 (B); × 400 (C,D).