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Type III pleuropulmonary blastoma in a dicer1 germline mutation carrier: The management of residual lung cystic lesions
Author(s) -
Fita Ana M.,
LlinaresRiestra Esther,
DoménechAbellán Ernesto,
BermúdezCortés Mar,
GaleraMiñarro Ana M.,
BasBernal Agueda,
FusterSoler José L.
Publication year - 2017
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.26438
Subject(s) - medicine , germline mutation , germline , pulmonary blastoma , ifosfamide , lung , malignancy , mutation , vincristine , chemotherapy , pathology , oncology , cyclophosphamide , genetics , gene , etoposide , biology
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.