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

Abbo, Olivier; Pinnagoda, Kalitha; Brouchet, L.; Léobon, Bertrand; Savagner, Frédérique; Oliver, Isabel; Galinier, P.; Castex, Marie‐Pierre; Pasquet, Marlène

doi:10.1186/s12957-018-1469-4

Cited by 20 publications

(21 citation statements)

References 7 publications

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“…Wilms tumor, cystic nephroma, Sertoli Leyding cells tumor are some of the neoplasm reported among DICER 1 pathogenic variant carriers. The association of DICER 1 mutation and PPB is reported in approximatively 66% of recorded cases [4] . Approximately 25% of affected pediatric patients have features in keeping with a familial cancer syndrome [11] .…”

Section: Discussionmentioning

confidence: 99%

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Type II pleuropulmonary blastoma in a 3-years-old female with dyspnea: a case report and review of literature

Ferrara

Esposito

Rossi

et al. 2021

Radiology Case Reports

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Pleuropulmonary blastoma (PPB) is a rare but aggressive pediatric tumor originates from either lung or pleura. It was recently linked to the DICER I mutation as a part of predisposition syndrome for different type of tumor. It is characterized histologically by a primitive, variably mixed blastomatous and sarcomatous tissue. PPB is classified into four subtypes: cystic (type I and type Ir); cystic and solid (type II); solid (type III). PPB has no characteristic imaging findings. Integrated imaging can help to make a differential diagnosis and to recognize the subtypes in order to set up therapy. An early recognition and differentiation from congenital airway malformations and other benign cysts are very important. The treatment consists in a multimodal therapy including surgery and chemoterapy. We report a case of 3 years old female admitted at our hospital with fever, non productive cough and dyspnea, who was diagnosed with type II PPB.

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Section: Discussionmentioning

confidence: 99%

“…It has been linked to the mutation of DICER1 as part of a predisposition syndrome for different types of tumors [4] including Wilms tumor (WT). We described a case of type II PPB treated in our hospital with a short review of literature focusing on the differential diagnosis and on integrated imaging.…”

Section: Introductionmentioning

confidence: 99%

Type II pleuropulmonary blastoma in a 3-years-old female with dyspnea: a case report and review of literature

Ferrara

Esposito

Rossi

et al. 2021

Radiology Case Reports

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“…Some benign conditions, such as cystic nephroma, have a risk of malignant transformation. [3,4] Mutations in the DICER1 gene are affecting RNA expression. [5] As postulated by the two-hit hypothesis, tumours appear because one copy of the DICER1 gene is affected by a predisposing germline mutation (usually inherited in an autosomal dominant fashion, although 10-20% of mutations are sporadic), and the other copy is affected by an acquired, somatic, tumour-specific mutation.…”

Section: Discussionmentioning

confidence: 99%

Case – Bilateral and recurrent pediatric cystic nephroma associated with DICER1 mutation

Caron

Turcotte²,

Pelland‐Marcotte³

et al. 2020

CUAJ

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“…Pleuropulmonary Blastoma (PPB), Type 1 Primary neoplasms of the lung are rare, but the most common of these is the childhood form of PPB, a blastemal tumor similar to Wilm's tumor [23,24]. Mutations in the DICER gene have been described with PPB [25].…”

Section: Traumatic Lung Lesionmentioning

confidence: 99%

Focal Lung Disorders

Lee

2019

Imaging in Pediatric Pulmonology

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Pulmonary cysts seen on plain chest radiographs as completely or partially air-filled, round masses may be congenital, infectious/inflammatory, traumatic, or neoplastic in origin. The differential diagnosis can be refined based on the age of the patient (neonate and young infant vs. child) and distribution within the lungs (unilateral vs. bilateral), as well as the clinical presentation and the presence of other findings such as nodules or wedge-shaped opacities.In neonates or young infants, unilateral findings most often represent bronchopulmonary foregut malformations, while bilateral involvement suggests chronic lung disease of prematurity (Table 7.1). Young children most commonly present with symptoms of infection with or without an underlying congenital anomaly. A solitary lesion suggests a congenital anomaly or bacterial infection in a previously healthy child. If findings are bilateral, a systemic disease should be considered. Langerhans histiocytosis and cystic fibrosis (CF) are bilateral upper lung zone predominant diseases early on, while septic emboli involve the lower lobes preferentially. The presence of nodules and cysts suggests conditions such as Langerhans cell histiocytosis (LCH), granulomatosis with polyangiitis (previously known as Wegener granulomatosis), cystic fibrosis, and papillomatosis. The presence of wedge-shaped opacities suggests a vascular etiology as in granulomatosis with polyangiitis or septic emboli (Table 7.2).

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

Cited by 20 publications

References 7 publications

Type II pleuropulmonary blastoma in a 3-years-old female with dyspnea: a case report and review of literature

Type II pleuropulmonary blastoma in a 3-years-old female with dyspnea: a case report and review of literature

Case – Bilateral and recurrent pediatric cystic nephroma associated with DICER1 mutation

Focal Lung Disorders

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