A Familial Case of Pleuropulmonary Blastoma

Abstract

Purpose: 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. Patients and Methods: We present the case of two brothers diagnosed with PPB. Results: 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. Conclusion: 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.

Key words

pleuropulmonary blastoma - PPB - congenital cystic adenomatoid malformation - CCAM

References

• 1 Al-Backer N, Puligandla P S, Su W, Anselmo M, Laberge J M. Type I pleuropulmonary blastoma in a 3-year-old male with a cystic lung mass.  J Pediatr Surg. 2006;  41 E13-E15
• 2 Bal N, Kayaselcuk F, Polat A, Bolat F, Yilmaz Z, Tuncer I. Familial cystic nephroma in two siblings with pleuropulmonary blastoma.  Pathol Oncol Res. 2005;  11 53-56
• 3 Boman F, Hill D A, Williams G M, Chauvenet A, Fournet J C, Soglio D B, Messinger Y, Priest J R. Familial association of pleuropulmonary blastoma with cystic nephroma and other renal tumors: a report from the International Pleuropulmonary Blastoma Registry.  J Pediatr. 2006;  149 850-854
• 4 Federici S, Domenichelli V, Tani G, Sciutti R, Burnelli R, Zanetti G, Dòmini R. Pleuropulmonary blastoma in congenital cystic adenomatoid malformation: report of a case.  Eur J Pediatr Surg. 2001;  11 196-199
• 5 The International PPB Registry .http://www.ppbregistry.org/ 2005
• 6 Manivel J C, Priest J R, Watterson J, Steiner M, Woods W G, Wick M R, Dehner L P. Pleuropulmonary blastoma: the so-called pulmonary blastoma of childhood.  Cancer. 1988;  62 1516-1526
• 7 Naffaa L N, Donnelly L F. Imaging findings in pleuropulmonary blastoma.  Pediatr Radiol. 2005;  35 387-391
• 8 Priest J R, Hill D A, Williams G M, Moertel C L, Messinger Y, Finkelstein M J, Dehner L P. International Pleuropulmonary Blastoma Registry. Type I pleuropulmonary blastoma: a report from the International Pleuropulmonary Blastoma Registry.  J Clin Oncol. 2006;  24 4492-4498
• 9 Priest J R, McDermott M B, Bhatia S, Watterson J, Manivel J C, Dehner L P. Pleuropulmonary blastoma: a clinicopathologic study of 50 cases.  Cancer. 1997;  80 147-161
• 10 Priest J R, Watterson J, Strong L, Huff V, Woods W G, Byrd R L, Friend S H, Newsham I, Amylon M D, Pappo A, Mahoney D H, Langston C, Heyn R, Kohut G, Freyer D R, Bostrom B, Richardson M S, Barredo J, Dehner L P. Pleuropulmonary blastoma: a marker for familial disease.  J Pediatr. 1996;  128 220-224
• 11 Vargas S O, Korpershoek E, Kozakewich H P, de Krijger R R, Fletcher J A, Perez-Atayde A R. Cytogenetic and p 53 profiles in congenital cystic adenomatoid malformation: insights into its relationship with pleuropulmonary blastoma.  Pediatr Dev Pathol. 2006;  9 190-195