Type III pleuropulmonary blastoma in a dicer1 germline mutation carrier: The management of residual lung cystic lesions
| Autor: | Mar Bermúdez-Cortés, Ana M. Galera-Miñarro, Esther Llinares-Riestra, Ernesto Doménech-Abellán, José Luis Fuster-Soler, Agueda Bas-Bernal, Ana María Fita |
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| Rok vydání: | 2016 |
| Předmět: |
Lung Diseases
Male Ribonuclease III Vincristine Pathology medicine.medical_specialty Heterozygote Pleuropulmonary blastoma Malignancy Germline DEAD-box RNA Helicases 03 medical and health sciences 0302 clinical medicine Germline mutation 030225 pediatrics Antineoplastic Combined Chemotherapy Protocols Medicine Humans Ifosfamide Germ-Line Mutation DICER1 Syndrome Lung business.industry Cysts Hematology medicine.disease medicine.anatomical_structure Oncology Doxorubicin 030220 oncology & carcinogenesis Child Preschool Pediatrics Perinatology and Child Health Dactinomycin business Pulmonary Blastoma medicine.drug |
| Zdroj: | Pediatric bloodcancer. 64(8) |
| ISSN: | 1545-5017 |
| Popis: | Pleuropulmonary blastoma (PPB) is a rare malignancy of childhood. It often represents a manifestation of a hereditary tumor predisposition syndrome (DICER1 syndrome). Because of its malignant potential, surgical resection of cystic lung lesions is recommended in germline DICER1 mutation carriers. We present a case of a 3-year-old male child with type III PPB successfully managed with ifosfamide, vincristine, actinomycin-D, and doxorubicin (IVADo) chemotherapy and surgery. A heterozygous germline pR688X mutation of DICER1 gene was demonstrated. Six years after primary diagnosis, several small lung cysts remained stable without further therapy. The management of residual asymptomatic lung cysts represents a clinical challenge in these patients. |
| Databáze: | OpenAIRE |
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