Challenges in DICER1-Associated Lung Disease
Pleuropulmonary blastoma (PPB) is a tumor occurring almost exclusively in infants and young children. This is the most common primary-lung malignancy in childhood. There is age-associated progression through a distinctive sequence of pathologic changes, from a purely multicystic lesion type I to a h...
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| Format: | Article |
| Language: | English |
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MDPI AG
2023-02-01
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| Series: | Journal of Clinical Medicine |
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| Online Access: | https://www.mdpi.com/2077-0383/12/5/1918 |
| _version_ | 1797615010700066816 |
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| author | Kamal Masarweh Oz Mordechai Michal Gur Ronen Bar-Yoseph Lea Bentur Anat Ilivitzki |
| author_facet | Kamal Masarweh Oz Mordechai Michal Gur Ronen Bar-Yoseph Lea Bentur Anat Ilivitzki |
| author_sort | Kamal Masarweh |
| collection | DOAJ |
| description | Pleuropulmonary blastoma (PPB) is a tumor occurring almost exclusively in infants and young children. This is the most common primary-lung malignancy in childhood. There is age-associated progression through a distinctive sequence of pathologic changes, from a purely multicystic lesion type I to a high-grade sarcoma type II and III. While complete resection is the cornerstone treatment for type I PPB, aggressive chemotherapy with a less favorable prognosis is associated with type II and III. DICER1 germline mutation is positive in 70% of children with PPB. Diagnosis is challenging, as it resembles congenital pulmonary airway malformation (CPAM) in imaging. Although PPB is an extremely rare malignancy, over the past five years we have encountered several children diagnosed with PPB in our medical center. Herein, we present some of these children and discuss diagnostic, ethical, and therapeutic challenges. |
| first_indexed | 2024-03-11T07:20:25Z |
| format | Article |
| id | doaj.art-4201e50b0c774c7daf762bb18310f874 |
| institution | Directory Open Access Journal |
| issn | 2077-0383 |
| language | English |
| last_indexed | 2024-03-11T07:20:25Z |
| publishDate | 2023-02-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Clinical Medicine |
| spelling | doaj.art-4201e50b0c774c7daf762bb18310f8742023-11-17T08:00:05ZengMDPI AGJournal of Clinical Medicine2077-03832023-02-01125191810.3390/jcm12051918Challenges in DICER1-Associated Lung DiseaseKamal Masarweh0Oz Mordechai1Michal Gur2Ronen Bar-Yoseph3Lea Bentur4Anat Ilivitzki5Pediatric Pulmonary Institute, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa 3109601, IsraelPediatric Hematology and Oncology Department, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa 3109601, IsraelPediatric Pulmonary Institute, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa 3109601, IsraelPediatric Pulmonary Institute, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa 3109601, IsraelPediatric Pulmonary Institute, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa 3109601, IsraelRappaport Faculty of Medicine, Technion–Israel Institute of Technology, Haifa 3200003, IsraelPleuropulmonary blastoma (PPB) is a tumor occurring almost exclusively in infants and young children. This is the most common primary-lung malignancy in childhood. There is age-associated progression through a distinctive sequence of pathologic changes, from a purely multicystic lesion type I to a high-grade sarcoma type II and III. While complete resection is the cornerstone treatment for type I PPB, aggressive chemotherapy with a less favorable prognosis is associated with type II and III. DICER1 germline mutation is positive in 70% of children with PPB. Diagnosis is challenging, as it resembles congenital pulmonary airway malformation (CPAM) in imaging. Although PPB is an extremely rare malignancy, over the past five years we have encountered several children diagnosed with PPB in our medical center. Herein, we present some of these children and discuss diagnostic, ethical, and therapeutic challenges.https://www.mdpi.com/2077-0383/12/5/1918pleuropulmonary blastomaDICER1lung cyst |
| spellingShingle | Kamal Masarweh Oz Mordechai Michal Gur Ronen Bar-Yoseph Lea Bentur Anat Ilivitzki Challenges in DICER1-Associated Lung Disease Journal of Clinical Medicine pleuropulmonary blastoma DICER1 lung cyst |
| title | Challenges in DICER1-Associated Lung Disease |
| title_full | Challenges in DICER1-Associated Lung Disease |
| title_fullStr | Challenges in DICER1-Associated Lung Disease |
| title_full_unstemmed | Challenges in DICER1-Associated Lung Disease |
| title_short | Challenges in DICER1-Associated Lung Disease |
| title_sort | challenges in dicer1 associated lung disease |
| topic | pleuropulmonary blastoma DICER1 lung cyst |
| url | https://www.mdpi.com/2077-0383/12/5/1918 |
| work_keys_str_mv | AT kamalmasarweh challengesindicer1associatedlungdisease AT ozmordechai challengesindicer1associatedlungdisease AT michalgur challengesindicer1associatedlungdisease AT ronenbaryoseph challengesindicer1associatedlungdisease AT leabentur challengesindicer1associatedlungdisease AT anatilivitzki challengesindicer1associatedlungdisease |