title: Type III pleuropulmonary blastoma in a dicer1 germline mutation carrier: The management of residual lung cystic lesions.
abstract: 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.
authors.affiliation: Department of Pediatric Hematology and Oncology, University Hospital Virgen de la Arrixaca, Murcia, Spain.
authors.forename: Ana M
authors.initials: AM
authors.lastname: Fita
authors.affiliation: Department of Pediatric Hematology and Oncology, University Hospital Virgen de la Arrixaca, Murcia, Spain.
authors.forename: Esther
authors.initials: E
authors.lastname: Llinares-Riestra
authors.affiliation: Department of Pediatric Radiology, University Hospital Virgen de la Arrixaca, Murcia, Spain.
authors.forename: Ernesto
authors.initials: E
authors.lastname: Doménech-Abellán
authors.affiliation: Department of Pediatric Hematology and Oncology, University Hospital Virgen de la Arrixaca, Murcia, Spain.
authors.forename: Mar
authors.initials: M
authors.lastname: Bermúdez-Cortés
authors.affiliation: Department of Pediatric Hematology and Oncology, University Hospital Virgen de la Arrixaca, Murcia, Spain.
authors.forename: Ana M
authors.initials: AM
authors.lastname: Galera-Miñarro
authors.affiliation: Department of Anatomical Pathology, University Hospital Virgen de la Arrixaca, Murcia, Spain.
authors.forename: Agueda
authors.initials: A
authors.lastname: Bas-Bernal
authors.affiliation: Department of Pediatric Hematology and Oncology, University Hospital Virgen de la Arrixaca, Murcia, Spain.
authors.forename: José L
authors.initials: JL
authors.lastname: Fuster-Soler
mesh_terms: D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D002675:Child, Preschool; D003560:Cysts / Q000473:pathology; D053487:DEAD-box RNA Helicases / Q000235:genetics*; D003609:Dactinomycin / Q000008:administration & dosage; D004317:Doxorubicin / Q000008:administration & dosage; D018095:Germ-Line Mutation; D006579:Heterozygote; D006801:Humans; D007069:Ifosfamide / Q000008:administration & dosage; D008171:Lung Diseases / Q000473:pathology; D008297:Male; D018202:Pulmonary Blastoma / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D043244:Ribonuclease III / Q000235:genetics*; D014750:Vincristine / Q000008:administration & dosage
chemical_list: D003609:Dactinomycin; D014750:Vincristine; D004317:Doxorubicin; C408087:DICER1 protein, human; D043244:Ribonuclease III; D053487:DEAD-box RNA Helicases; D007069:Ifosfamide
keywords: DICER1; pleuropulmonary blastoma; pulmonary cysts