RESUMO
We present three cases of pleuropulmonary blastoma (PPB) in Australian children. Each had a family history of childhood tumors which collectively included PPB, infant lung cyst, cystic nephroma, medullo-epithelioma and a Sertoli-Leydig ovarian tumor. Two of the patients also had additional malignancies: a concurrent bladder rhabdomyosarcoma and a post therapy non-PPB malignant lung tumor. In two cases, the family histories were elicited years after the PPB diagnosis. Archived pathology material allowed revision of pathologic diagnoses from decades earlier. These cases illustrate the importance of detailed inquiry into family medical history and the pleiotropy of the PPB-related familial cancer predisposition syndrome, which appears to result from heterozygous DICER1 mutations.
Assuntos
Neoplasias Pulmonares/genética , Neoplasias Primárias Múltiplas/genética , Neoplasias Pleurais/genética , Blastoma Pulmonar/genética , Austrália , Pré-Escolar , Feminino , Humanos , Lactente , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/patologia , Masculino , Neoplasias Primárias Múltiplas/diagnóstico , Neoplasias Primárias Múltiplas/patologia , Neoplasias Pleurais/diagnóstico , Neoplasias Pleurais/patologia , Blastoma Pulmonar/diagnóstico , Blastoma Pulmonar/patologiaRESUMO
A 6-year-old male diagnosed with extensive neuroblastoma was treated with chemotherapy, surgery, autotransplantation, and radiotherapy. He was then enrolled on a study to assess the monoclonal antibody Ch14.18 (anti-GD2) with 13 cis-retinoic acid. 13-cis-retinoic acid therapy caused severe bone pain and hypercalcemia. Bone scans showed multiple osteoblastic lesions suggesting recurrent disease however MIBG scans were negative. Serum markers of bone turnover were increased and the patient required pamidronate therapy to treat persistent hypercalcemia. Retinoic acid toxicity needs to be considered in the differential of painful osteoblastic lesions and/or hypercalcemia. MIBG scans can assist in differentiating from recurrent disease.