A familial case of pleuropulmonary blastoma

• Published in: European journal of pediatric surgery Vol. 18; no. 3; p. 192
• Main Authors: Gutweiler, J R, Labelle, J, Suh, M Y, Misra, M V, Ahmed, M, Lee, E Y, Vargas, S O, Kim, H B, Weldon, C B
• Format: Journal Article
• Language: English
• Published: United States 01.06.2008
• Subjects: Genetic Predisposition to Disease; Humans; Infant; Lung Neoplasms - diagnosis; Lung Neoplasms - surgery; Male; Pleural Neoplasms - diagnosis; Pleural Neoplasms - surgery; Pneumonectomy; Pulmonary Blastoma - diagnosis; Pulmonary Blastoma - surgery
• ISSN: 0939-7248
• DOI: 10.1055/s-2008-1038484

Pleuropulmonary blastoma (PPB) is a rare intrathoracic neoplasm of early childhood arising in the lung or visceral pleura. Approximately 150 cases have been reported in the literature, with only one previously documented case of PPB in siblings. We present the case of two brothers diagnosed with PPB. A two month-old boy with an abnormal breathing pattern was referred for evaluation of a cystic mass discovered on chest radiograph. Computed tomography (CT) of the chest was performed at our institution which revealed findings compatible with congenital cystic adenomatoid malformation (CCAM) of the right middle and lower lobes. The patient underwent urgent thoracic exploration one week later after developing severe respiratory distress. Histological examination revealed PPB type I (cystic). The patient's 15-month-old brother was presumed to have a CCAM noted radiographically months earlier during an asthma exacerbation. He underwent elective cyst resection and was also found to have type I PPB. The index patient was treated with adjuvant chemotherapy due to the large size of the PPB and intraoperative spillage of cystic fluid during the emergent surgery. In contrast, the brother is being followed without adjuvant chemotherapy, given the much smaller size of the PPB, wide margins of resection, and lack of spillage. Family history included an uncle diagnosed at age 11 with an unusual form of T cell acute lymphoblastic leukemia. Although PPB is known to have a familial association with other neoplasms, this case represents only the second report of PPB occurring in siblings. The importance of thoroughly investigating and resecting pulmonary cystic masses in the pediatric population is highlighted by these cases.