Pleuropulmonary blastoma: four cases

2000 ◽  
Vol 16 (8) ◽  
pp. 595-598 ◽  
Author(s):  
A. Kukkady ◽  
V. Upadhyay ◽  
P. W. B. Pease ◽  
Y. F. Chan
Keyword(s):  
Pleuropulmonary Blastoma

Emergent Surgery for Pleuropulmonary Blastoma

2016 ◽  
Vol 64 (S 01) ◽  
Author(s):  
S. Lueck ◽  
H. Aebert ◽  
C. Schmidt ◽  
W. Hartmann ◽  
C. Roessig ◽  
...  
Keyword(s):  
Pleuropulmonary Blastoma ◽  
Emergent Surgery

Pleuropulmonary blastoma in 3 year old child - A rare case report

2018 ◽  
Vol 7 (1) ◽  
pp. 37-39
Author(s):  
Pramod Shaha ◽  
◽  
Shrishail Adke ◽  
Prakash Patil ◽  
◽  
...  
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Pleuropulmonary Blastoma ◽  
Rare Case Report

Pleuropulmonary Blastoma Developing in a Case of Misinterpreted Congenital Pulmonary Airway Malformation: a Case Report

2018 ◽  
Vol 37 (5) ◽  
pp. 377-386 ◽  
Author(s):  
Moupali Ghosh ◽  
Nelofar Islam ◽  
Arindam Ghosh ◽  
Priyanka Maity Chaudhuri ◽  
Koushik Saha ◽  
...  
Keyword(s):  
Case Report ◽  
Pleuropulmonary Blastoma ◽  
Congenital Pulmonary Airway Malformation ◽  
Pulmonary Airway

Reply: pleuropulmonary blastoma-like peritoneal sarcoma and DICER1-associated sarcomas: toward a unified nomenclature

2021 ◽  
Author(s):  
Louis P. Dehner ◽  
D. Ashley Hill ◽  
Douglas R. Stewart ◽  
Kris Ann P. Schultz
Keyword(s):  
Pleuropulmonary Blastoma

scholarly journals Unusual phenotypes in patients with a pathogenic germline variant in DICER1

2021 ◽  
Author(s):  
Kateryna Venger ◽  
Miriam Elbracht ◽  
Julia Carlens ◽  
Peter Deutz ◽  
Felix Zeppernick ◽  
...  
Keyword(s):  
Wilms Tumor ◽  
Pleuropulmonary Blastoma ◽  
Global Developmental Delay ◽  
Facial Dysmorphism ◽  
Compound Heterozygous ◽  
Incomplete Penetrance ◽  
Developmental Abnormalities ◽  
Lung Cysts ◽  
Developmental Features ◽  
Skeletal Findings

AbstractPathogenic germline DICER1 variants are associated with pleuropulmonary blastoma, multinodular goiter, embryonal rhabdomyosarcoma and other tumour types, while mosaic missense DICER1 variants in the RNase IIIb domain are linked to cause GLOW (global developmental delay, lung cysts, overgrowth, and Wilms’ tumor) syndrome. Here, we report four families with germline DICER1 pathogenic variants in which one member in each family had a more complex phenotype, including skeletal findings, facial dysmorphism and developmental abnormalities. The developmental features occur with a variable expressivity and incomplete penetrance as also described for the neoplastic and dysplastic lesions associated with DICER1 variants. Whole exome sequencing (WES) was performed on all four cases and revealed no further pathogenic or likely pathogenic dominant, homozygous or compound heterozygous variants in three of them. Notably, a frameshift variant in ARID1B was detected in one patient explaining part of her phenotype. This series of patients shows that pathogenic DICER1 variants may be associated with a broader phenotypic spectrum than initially assumed, including predisposition to different tumours, skeletal findings, dysmorphism and developmental abnormalities, but genetic work up in syndromic patients should be comprehensive in order not to miss additional underlying /modifying causes.

scholarly journals Biallelic DICER1 Mutations in Sporadic Pleuropulmonary Blastoma

2014 ◽  
Vol 74 (10) ◽  
pp. 2742-2749 ◽  
Author(s):  
Masafumi Seki ◽  
Kenichi Yoshida ◽  
Yuichi Shiraishi ◽  
Teppei Shimamura ◽  
Yusuke Sato ◽  
...  
Keyword(s):  
Pleuropulmonary Blastoma

scholarly journals RARE-43. FAVORABLE OUTCOME OF A YOUNG GIRL WITH RECURRENT METASTATIC PINEOBLASTOMA ASSOCIATED WITH A DICER1 MUTATION

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii451-iii452
Author(s):  
Adam Rossi ◽  
Gregory Verona ◽  
Ann Ritter ◽  
Hope Richard ◽  
India Sisler ◽  
...  
Keyword(s):  
Radiation Therapy ◽  
Positive Impact ◽  
Spinal Metastasis ◽  
High Grade Glioma ◽  
Young Girl ◽  
Pleuropulmonary Blastoma ◽  
High Dose ◽  
Molecular Testing ◽  
Cell Transplant ◽  
Molecular Features

Abstract Pineoblastomas have been thought to portend a poor prognosis, especially in younger children or those with metastases. Long term survivors after relapse, especially for those with metastatic disease are rare. We report a young girl with a DICER1 mutation who survived recurrent metastatic pineoblastoma. She was initially diagnosed at the age of 3 with a localized pineoblastoma, underwent gross total surgical resection, and received high dose chemotherapy with autologous stem cell transplant per COG ACNS0334 without radiation therapy. 16 months after completion of treatment, she relapsed at primary site with widespread spinal metastasis. She then received cranial spinal radiation of 3600Gy with proton beam, with boost to primary to 5580Gy, followed by chemotherapy with Temozolomide, Irinotecan and Avastin per COG ACNS0821. She is now 3 years and 3 months from completion of treatment, is doing well clinically with stable imaging findings. No particular alteration was identified from the tumor molecular testing of her initial pineoblastoma. Of note, she was diagnosed with pleuropulmonary blastoma soon after her initial diagnosis of pineoblastoma, and was found to have a DICER1 mutation (c.2062C>T; pR688*) thought to be a nonsense mutation. While radiation therapy following recurrence is known to improve the outcome, more recent studies suggest that tumors lacking the molecular features of high grade glioma also has a positive impact on prognosis. In addition, we speculate that DICER1 mutations might increase sensitivity of cancer cells to some chemotherapy through modulating gene expression and /or interfering with DNA repair mechanisms, therefore, affecting treatment outcome.

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