Pleuropulmonary Blastoma (PPB) in Child with DICER1 Mutation: The First Case Report in the State of Qatar

Pleuropulmonary blastoma (PPB) is a rare intrathoracic malignancy, which arises from the lung parenchyma and/or pleura. PPB has strong genetic association with mutations in DICER1 gene. Despite being rare, PPB is the most common lung tumor in children below 6 years of age. International registry of...

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Autores principales:	Sara G. Hamad, Amal Al-Naimi, Mutasim Abu-Hasan
Formato:	article
Lenguaje:	EN
Publicado:	Hindawi Limited 2021
Materias:	Diseases of the respiratory system RC705-779
Acceso en línea:	https://doaj.org/article/19f2607042704f84b5d4aa5361dc0374
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spelling	oai:doaj.org-article:19f2607042704f84b5d4aa5361dc03742021-11-08T02:35:41ZPleuropulmonary Blastoma (PPB) in Child with DICER1 Mutation: The First Case Report in the State of Qatar2090-685410.1155/2021/1983864https://doaj.org/article/19f2607042704f84b5d4aa5361dc03742021-01-01T00:00:00Zhttp://dx.doi.org/10.1155/2021/1983864https://doaj.org/toc/2090-6854Pleuropulmonary blastoma (PPB) is a rare intrathoracic malignancy, which arises from the lung parenchyma and/or pleura. PPB has strong genetic association with mutations in DICER1 gene. Despite being rare, PPB is the most common lung tumor in children below 6 years of age. International registry of the disease has a total of 350 cases worldwide. We report the first case of PPB in the state of Qatar, which presented as a large cystic lung lesion. The patient was first thought to have benign congenital pulmonary airway malformation (CPAM) based on chest X-ray findings. The diagnosis of PPB was suspected based on chest CT scan findings and was confirmed after surgical resection of the cystic mass. The case highlights the need to consider PPB in the differential diagnosis of cystic lung lesions in children and the need for further radiological imaging (i.e., CT scan), genetic testing, and/or excisional biopsy to confirm the diagnosis.Sara G. HamadAmal Al-NaimiMutasim Abu-HasanHindawi LimitedarticleDiseases of the respiratory systemRC705-779ENCase Reports in Pulmonology, Vol 2021 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Diseases of the respiratory system RC705-779
spellingShingle	Diseases of the respiratory system RC705-779 Sara G. Hamad Amal Al-Naimi Mutasim Abu-Hasan Pleuropulmonary Blastoma (PPB) in Child with DICER1 Mutation: The First Case Report in the State of Qatar
description	Pleuropulmonary blastoma (PPB) is a rare intrathoracic malignancy, which arises from the lung parenchyma and/or pleura. PPB has strong genetic association with mutations in DICER1 gene. Despite being rare, PPB is the most common lung tumor in children below 6 years of age. International registry of the disease has a total of 350 cases worldwide. We report the first case of PPB in the state of Qatar, which presented as a large cystic lung lesion. The patient was first thought to have benign congenital pulmonary airway malformation (CPAM) based on chest X-ray findings. The diagnosis of PPB was suspected based on chest CT scan findings and was confirmed after surgical resection of the cystic mass. The case highlights the need to consider PPB in the differential diagnosis of cystic lung lesions in children and the need for further radiological imaging (i.e., CT scan), genetic testing, and/or excisional biopsy to confirm the diagnosis.
format	article
author	Sara G. Hamad Amal Al-Naimi Mutasim Abu-Hasan
author_facet	Sara G. Hamad Amal Al-Naimi Mutasim Abu-Hasan
author_sort	Sara G. Hamad
title	Pleuropulmonary Blastoma (PPB) in Child with DICER1 Mutation: The First Case Report in the State of Qatar
title_short	Pleuropulmonary Blastoma (PPB) in Child with DICER1 Mutation: The First Case Report in the State of Qatar
title_full	Pleuropulmonary Blastoma (PPB) in Child with DICER1 Mutation: The First Case Report in the State of Qatar
title_fullStr	Pleuropulmonary Blastoma (PPB) in Child with DICER1 Mutation: The First Case Report in the State of Qatar
title_full_unstemmed	Pleuropulmonary Blastoma (PPB) in Child with DICER1 Mutation: The First Case Report in the State of Qatar
title_sort	pleuropulmonary blastoma (ppb) in child with dicer1 mutation: the first case report in the state of qatar
publisher	Hindawi Limited
publishDate	2021
url	https://doaj.org/article/19f2607042704f84b5d4aa5361dc0374
work_keys_str_mv	AT saraghamad pleuropulmonaryblastomappbinchildwithdicer1mutationthefirstcasereportinthestateofqatar AT amalalnaimi pleuropulmonaryblastomappbinchildwithdicer1mutationthefirstcasereportinthestateofqatar AT mutasimabuhasan pleuropulmonaryblastomappbinchildwithdicer1mutationthefirstcasereportinthestateofqatar
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Pleuropulmonary Blastoma (PPB) in Child with DICER1 Mutation: The First Case Report in the State of Qatar

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