Case report of a 3-year-old girl with pleuropulmonary blastoma and family history of a tumor predisposition syndrome with c. 2830 gene mutation in DICER1
Pleuropulmonary blastoma (PPB) is a childhood mesenchymal pleural-based tumor that is associated with a germline mutation in DICER1 gene in familial PPB. It occurs most commonly in children between the ages of 2 and 5. Approximately 25% of patients have familial cancer syndrome which can include dif...
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| Format: | Article |
| Language: | English |
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Elsevier
2015-08-01
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| Series: | Journal of Pediatric Surgery Case Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2213576615000792 |
| _version_ | 1811331949944373248 |
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| author | Y. Puckett J. Howe D. Vane A. Agarwal J.R. Batanian J. Greenspon |
| author_facet | Y. Puckett J. Howe D. Vane A. Agarwal J.R. Batanian J. Greenspon |
| author_sort | Y. Puckett |
| collection | DOAJ |
| description | Pleuropulmonary blastoma (PPB) is a childhood mesenchymal pleural-based tumor that is associated with a germline mutation in DICER1 gene in familial PPB. It occurs most commonly in children between the ages of 2 and 5. Approximately 25% of patients have familial cancer syndrome which can include different combinations of PPB, lung cysts, thyroid tumors, cystic nephroma, Wilms tumor, embryonal rhabdomyosarcoma, ovarian Sertoli-Leydig cell tumors, juvenile granulosa cell tumor, gynandroblastoma, medulloblastoma, other childhood central nervous system tumors, nasal chondral mesenchymal hamartoma, and small bowel polyps. Our case report presents a child diagnosed with PPB with maternal history of bilateral ovarian Sertoli-Leydig cell tumors and papillary carcinoma of the thyroid. Molecular analysis performed on the patient and mother showed a specific gene change (c. 2830) in the DICER1 gene. The patient underwent surgical resection of the tumor and five cycles of chemotherapy. Despite this aggressive treatment, she eventually succumbed to brain metastases and was made comfort care after suffering a massive brain hemorrhage several months after the initial diagnosis of her disease. |
| first_indexed | 2024-04-13T16:29:16Z |
| format | Article |
| id | doaj.art-5ed479f14586415baeffe6a0a3dbed49 |
| institution | Directory Open Access Journal |
| issn | 2213-5766 |
| language | English |
| last_indexed | 2024-04-13T16:29:16Z |
| publishDate | 2015-08-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Journal of Pediatric Surgery Case Reports |
| spelling | doaj.art-5ed479f14586415baeffe6a0a3dbed492022-12-22T02:39:38ZengElsevierJournal of Pediatric Surgery Case Reports2213-57662015-08-013831231510.1016/j.epsc.2015.06.004Case report of a 3-year-old girl with pleuropulmonary blastoma and family history of a tumor predisposition syndrome with c. 2830 gene mutation in DICER1Y. Puckett0J. Howe1D. Vane2A. Agarwal3J.R. Batanian4J. Greenspon5Cardinal Glennon Children's Hospital, Pediatric Surgery Department, Saint Louis University School of Medicine, Saint Louis, MO, USACardinal Glennon Children's Hospital, Pediatric Surgery Department, Saint Louis University School of Medicine, Saint Louis, MO, USACardinal Glennon Children's Hospital, Pediatric Surgery Department, Saint Louis University School of Medicine, Saint Louis, MO, USACardinal Glennon Children's Hospital, Pathology Department, Saint Louis University School of Medicine, Saint Louis, MO, USACardinal Glennon Children's Hospital, Pathology Department, Saint Louis University School of Medicine, Saint Louis, MO, USACardinal Glennon Children's Hospital, Pediatric Surgery Department, Saint Louis University School of Medicine, Saint Louis, MO, USAPleuropulmonary blastoma (PPB) is a childhood mesenchymal pleural-based tumor that is associated with a germline mutation in DICER1 gene in familial PPB. It occurs most commonly in children between the ages of 2 and 5. Approximately 25% of patients have familial cancer syndrome which can include different combinations of PPB, lung cysts, thyroid tumors, cystic nephroma, Wilms tumor, embryonal rhabdomyosarcoma, ovarian Sertoli-Leydig cell tumors, juvenile granulosa cell tumor, gynandroblastoma, medulloblastoma, other childhood central nervous system tumors, nasal chondral mesenchymal hamartoma, and small bowel polyps. Our case report presents a child diagnosed with PPB with maternal history of bilateral ovarian Sertoli-Leydig cell tumors and papillary carcinoma of the thyroid. Molecular analysis performed on the patient and mother showed a specific gene change (c. 2830) in the DICER1 gene. The patient underwent surgical resection of the tumor and five cycles of chemotherapy. Despite this aggressive treatment, she eventually succumbed to brain metastases and was made comfort care after suffering a massive brain hemorrhage several months after the initial diagnosis of her disease.http://www.sciencedirect.com/science/article/pii/S2213576615000792Pleuropulmonary blastomaDICER1Familial cancer syndromeAdjuvant chemotherapy |
| spellingShingle | Y. Puckett J. Howe D. Vane A. Agarwal J.R. Batanian J. Greenspon Case report of a 3-year-old girl with pleuropulmonary blastoma and family history of a tumor predisposition syndrome with c. 2830 gene mutation in DICER1 Journal of Pediatric Surgery Case Reports Pleuropulmonary blastoma DICER1 Familial cancer syndrome Adjuvant chemotherapy |
| title | Case report of a 3-year-old girl with pleuropulmonary blastoma and family history of a tumor predisposition syndrome with c. 2830 gene mutation in DICER1 |
| title_full | Case report of a 3-year-old girl with pleuropulmonary blastoma and family history of a tumor predisposition syndrome with c. 2830 gene mutation in DICER1 |
| title_fullStr | Case report of a 3-year-old girl with pleuropulmonary blastoma and family history of a tumor predisposition syndrome with c. 2830 gene mutation in DICER1 |
| title_full_unstemmed | Case report of a 3-year-old girl with pleuropulmonary blastoma and family history of a tumor predisposition syndrome with c. 2830 gene mutation in DICER1 |
| title_short | Case report of a 3-year-old girl with pleuropulmonary blastoma and family history of a tumor predisposition syndrome with c. 2830 gene mutation in DICER1 |
| title_sort | case report of a 3 year old girl with pleuropulmonary blastoma and family history of a tumor predisposition syndrome with c 2830 gene mutation in dicer1 |
| topic | Pleuropulmonary blastoma DICER1 Familial cancer syndrome Adjuvant chemotherapy |
| url | http://www.sciencedirect.com/science/article/pii/S2213576615000792 |
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