| Autor: |
Olivier Abbo, Kalitha Pinnagoda, Laurent Brouchet, Bertrand Leobon, Frédérique Savagner, Isabelle Oliver, Philippe Galinier, Marie-Pierre Castex, Marlène Pasquet |
| Jazyk: |
angličtina |
| Rok vydání: |
2018 |
| Předmět: |
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| Zdroj: |
World Journal of Surgical Oncology, Vol 16, Iss 1, Pp 1-4 (2018) |
| Druh dokumentu: |
article |
| ISSN: |
1477-7819 |
| DOI: |
10.1186/s12957-018-1469-4 |
| Popis: |
Abstract Background Pleuroblastoma (PPB) is a rare pediatric tumor which, in 30% of cases, is associated with cystic nephroma. It has been recently linked to the DICER1 mutation as part of a predisposition syndrome for various tumors. However, if DICER 1 anomalies have been reported in patients with Wilms tumor (WT), to date, no cases of PPB, WT, and DICER1 mutations have been reported in the same patient. Case presentation We report the case of a 3-year-old patient, initially managed for metastatic WT. During his clinical course, the diagnosis of a PPB was made after detecting the DICER1 mutation and subsequent management was therefore modified. Conclusion This case highlights that in case of simultaneous discovery of a renal tumor and a pulmonary lesion in a child, the DICER 1 mutations should be looked for as these could help adapt management and schedule the surgical procedures. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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