Pleuropulmonary blastoma


A malignant sarcomatous tumour of infancy/early childhood arising in the lung or rarely from the parietal pleura2,7. This tumour is the pulmonary equivalent of other tumours that arise during organ development, such as Wilm's tumour, neuroblastoma, hepatoblastoma and retinoblastoma17.


Pleuropulmonary blastoma


arising in

congenital cystic adenomatoid malformation2,4,5


mesenchymal cystic hamartoma

Pulmonary sarcoma

congenital bronchogenic cyst2

Embryonal sarcoma


Pulmonary blastoma of childhood



About 100 cases are recorded by the pleuropulmonary blastoma registry. Pleuropulmonary blastoma occurs in children up to 12 years of age21, usually by the age of 4 years, with a median age of 2 years3,4,5,15. Type I tumours occur in the youngest children, type III in the oldest17. 25% of cases are associated with a familial cancer syndrome and children may also develop lung "cysts", cystic nephroma6, ovarian teratoma8, rhabdomyosarcoma or intestinal polyps10. Prophylactic resection of congenital lung cysts is recommended20, despite which pleuropulmonary blastoma may develop14. Children related to a proband may develop lung cysts25.

Clinical features

In infancy, presentation is often with respiratory distress4,17. Children develop fever17, chest pain and cough18.


There are unilateral, often multiple25, less often bilateral10,12,25, pulmonary cysts17. Intracystic masses or septal thickening militate against a diagnosis of congenital adenomatoid malformation. There may be a pneumothorax. Cysts may be apparent in utero by ultrasound25.

Macroscopic appearances

There are three subtypes, with evidence that progression occurs from type I to type II to type III:





epithelial component lining cysts or entrapped within solid areas0



positive in mesenchymal component0,23

Muscle-specific actin

rhabdomyosarcomatous component, less often in the small cell cambium layer0


rhabdomyosarcomatous component, less often in the small cell cambium layer0, positive in scattered primitive mesenchymal cells, in the cambium layer and in cells with overt skeletal muscle differentiation25.


cartilaginous nodules0,23



Myogenin and MyoD1

scattered positive cells25

Ki-67 shows a variable proliferation index, up to 90% within the cambium layer25



There are several reports of gains in chromosome 81,13,19, specifically within the mesenchymal elements21. p53 mutations are common9.

Differential diagnosis


Radical surgery combined with chemoradiotherapy4,25.


Pleural and mediastinal involvement are associated with a worse prognosis17. The tumour recurs locally4 and metastasis to the central nervous system16 and bone: pancreatic22 and ocular4 metastases occur. Children may develop a second pleuropulmonary blastoma.


0Tumours of the Lung, Pleura, Thymus and Heart. WHO Classification of Tumours. IARC Press 2004.

1 Barnard M, Bayani J, Grant R, et al. Use of multicolor spectral karyotyping in genetic analysis of pleuropulmonary blastoma. Pediatr Dev Pathol 2000; 3:479-86

2 Dehner LP Pleuropulmonary blastoma is THE pulmonary blastoma of childhood. Semin Diagn Pathol 1994; 11:144-51

3 Baez-Giangreco A, Afzal M, Hamdy MG, et al. Pleuropulmonary blastoma of the lung presenting as posterior mediastinal mass: a case report. Pediatr Hematol Oncol 1997; 14:475-81

4 Indolfi P, Casale F, Carli M, et al. Pleuropulmonary blastoma: management and prognosis of 11 cases. Cancer 2000; 89:1396-401

5 Federici S, Domenichelli V, Tani G, et al. Pleuropulmonary blastoma in congenital cystic adenomatoid malformation: report of a case. Eur J Pediatr Surg 2001; 11:196-9

6 Ishida Y, Kato K, Kigasawa H, et al. Synchronous occurrence of pleuropulmonary blastoma and cystic nephroma: possible genetic link in cystic lesions of the lung and the kidney. Med Pediatr Oncol 2000; 35:85-7

7 Kelsey AM, McNally K, Birch J, et al. Case of extra pulmonary, pleuro-pulmonary blastoma in a child: pathological and cytogenetic findings. Med Pediatr Oncol 1997; 29:61-4

8 Kiziltepe TT, Patrick E, Alvarado C, et al. Pleuropulmonary blastoma and ovarian teratoma. Pediatr Radiol 1999; 29:901-3

9 Kusafuka T, Kuroda S, Inoue M, et al. P53 gene mutations in pleuropulmonary blastomas. Pediatr Hematol Oncol 2002; 19:117-28

10 Lallier M, Bouchard S, Di Lorenzo M, et al. Pleuropulmonary blastoma: a rare pathology with an even rarer presentation. J Pediatr Surg 1999; 34:1057-9

11 Manivel JC, Priest JR, Watterson J, et al. Pleuropulmonary blastoma. The so-called pulmonary blastoma of childhood. Cancer 1988; 62:1516-26

12 Mott BD, Canver CC, Nazeer T, et al. Staged resection of bilateral pleuropulmonary blastoma in a two-month old girl. J Cardiovasc Surg (Torino) 2001; 42:135-7

13 Novak R, Dasu S, Agamanolis D, et al. Trisomy 8 is a characteristic finding in pleuropulmonary blastoma. Pediatr Pathol Lab Med 1997; 17:99-103

14 Papagiannopoulos KA, Sheppard M, Bush AP, et al. Pleuropulmonary blastoma: is prophylactic resection of congenital lung cysts effective? Ann Thorac Surg 2001; 72:604-5

15 Picaud JC, Levrey H, Bouvier R, et al. Bilateral cystic pleuropulmonary blastoma in early infancy. J Pediatr 2000; 136:834-6

16 Perdikogianni C, Stiakaki E, Danilatou V, et al. Pleuropulmonary blastoma: an aggressive intrathoracic neoplasm of childhood. Pediatr Hematol Oncol 2001; 18:259-66

17 Priest JR, McDermott MB, Bhatia S, et al. Pleuropulmonary blastoma: a clinicopathologic study of 50 cases. Cancer 1997; 80:147-61

18 Reix P, Levrey H, Parret M, et al. [Pulmonary cystic images as a presentation of a pleuropulmonary blastoma]. Arch Pediatr 2000; 7:287-9

19 Sebire NJ, Rampling D, Malone M, et al. Gains of chromosome 8 in pleuropulmonary blastomas of childhood. Pediatr Dev Pathol 2002; 5:221-2

20 Tagge EP, Mulvihill D, Chandler JC, et al. Childhood pleuropulmonary blastoma: caution against nonoperative management of congenital lung cysts. J Pediatr Surg 1996; 31:187-9; discussion 190

21 Vargas SO, Nose V, Fletcher JA, et al. Gains of chromosome 8 are confined to mesenchymal components in pleuropulmonary blastoma. Pediatr Dev Pathol 2001; 4:434-45

22 Walles T, Teebken OE, Bartels M, et al. Pancreatic metastasis of a pleuropulmonary blastoma in an adult. Ann Oncol 2000; 11:1609-11

|23 Yang P, Hasegawa T, Hirose T, et al. Pleuropulmonary blastoma: fluorescence in situ hybridization analysis indicating trisomy 2. Am J Surg Pathol 1997; 21:854-9

24 de Krijger RR, Claessen SM, van der Ham F, et al. Gain of chromosome 8q is a frequent finding in pleuropulmonary blastoma. Mod Pathol 2007; 20:1191-9

25 Hill DA, Jarzembowski JA, Priest JR, et al. Type I pleuropulmonary blastoma: pathology and biology study of 51 cases from the international pleuropulmonary blastoma registry. Am J Surg Pathol 2008; 32:282-95


This page last revised 23.3.2008.

©SMUHT/PW Bishop