pleuropulmonary blastoma

Pleuropulmonary blastoma (PPB) is a rare malignant mesenchymal tumor of lung parenchyma and/or pleura in young children.

Pleuropulmonary blastoma is an aggressive tumor characterized by mesenchymal elements (including undifferentiated blastema and often cartilaginous, rhabdomyoblastic, or fibroblastic differentiation) and epithelium-lined spaces.

Types

 type I PPB (purely cystic PPB)
 type II PPB (solid and cystic PPB)

Synopsis

 sporadic or familial (#8636815#)
 cystic or solid (#10870072#)
 unilateral or bilateral (#10839886#)
 epithelial pulmonary blastoma: low-grade adenocarcinoma of the fetal lung type (L-FLAC)/well-differentiated fetal adenocarcinoma (WDFA)

Cytogenetics

 trisomy 2 (#12660036#, #9236843#), 2q anomalies (#8063284#)
 trisomy 8 (#12660036#, #11910518#, #11779045#, #9050063#), confined to mesenchymal elements (#11779045#)
 dup(7), der(10) (#12660036#)
 t(8; 10)(q13; q22) (#12660036#)
 add(17) (#12660036#)
 double minutes (dmin) (#12660036#)
 loss of 17p

Molecular biology

 p53 mutations (2/3) (#11881786#, #9236836#, #9224760#, #8912818#)
 beta-catenin gene (CTNNB1) missense mutations in epithelial pulmonary blastoma (#15223963#, #12754743#)

Associations

Approximately 25% of children with PPB have other neoplasms or dysplasias in themselves or their close family members.

 congenital pulmonary cystic lesion

• congenital cystic adenomatoid malformation (#11475118#, #10968242#, #9343020#, #8917252#, #12883247#)

 cystic nephroma in CNPPB syndrome (#10881016#, #8382107#)

 intestinal hamartomatous polyp (#10442587#)
 ovarian teratoma (#10602867#)
 fatal hypercalcemia (#9154681#)
 carcinosarcoma (#7982680#)
 neurofibromatosis (#8432176#)

Familial associations (#8636815#)

 pulmonary cysts
 cystic nephroma in CNPPB syndrome (#10881016#, #8382107#)
 intestinal hamartomatous polyp in CNPPB syndrome (#10442587#)
 sarcomas
 medulloblastomas
 thyroid dysplasias and neoplasias
 malignant germ cell tumors
 Hodgkin disease
 leukemia
 Langerhans cell histiocytosis

CGH (#15104284#)

Gains	1q12-13	2q	3q23-qter	7	8pter-q24.1	9p13-q21 19q11-q13.3	17p12-p11 17q11-q22 17q23-q25	19pter-p11
Losses	5	6q13-qter	10pter-p13 10q22-qter	20p13

Target regions

8p11-p12

2q

Differential diagnosis

 blastomatoid variant of carcinosarcoma (BCS)

References

 Lallier M, Bouchard S, Di Lorenzo M, Youssef S, Blanchard H, Lapierre JG, Vischoff D, Tucci M, Brochu P. Pleuropulmonary blastoma: a rare pathology with an even rarer presentation. J Pediatr Surg. 1999 Jul;34(7):1057-9. PMID: #10442587#

 MacSweeney F, Papagiannopoulos K, Goldstraw P, Sheppard MN, Corrin B, Nicholson AG. An assessment of the expanded classification of congenital cystic adenomatoid malformations and their relationship to malignant transformation. Am J Surg Pathol. 2003 Aug;27(8):1139-46. PMID: #12883247#

 Yang P, Hasegawa T, Hirose T, Fukumoto T, Uyama T, Monden Y, Sano T. Pleuropulmonary blastoma: fluorescence in situ hybridization analysis indicating trisomy 2. Am J Surg Pathol. 1997 Jul;21(7):854-9. PMID: #9236843#

 Priest JR, McDermott MB, Bhatia S, Watterson J, Manivel JC, Dehner LP. Pleuropulmonary blastoma: a clinicopathologic study of 50 cases. Cancer. 1997 Jul 1;80(1):147-61. PMID: #9210721#

 Priest JR, Watterson J, Strong L, Huff V, Woods WG, Byrd RL, Friend SH, Newsham I, Amylon MD, Pappo A, Mahoney DH, Langston C, Heyn R, Kohut G, Freyer DR, Bostrom B, Richardson MS, Barredo J, Dehner LP. Pleuropulmonary blastoma: a marker for familial disease. J Pediatr. 1996 Feb;128(2):220-4. PMID: #8636815#

 Hachitanda Y, Aoyama C, Sato JK, Shimada H. Pleuropulmonary blastoma in childhood. A tumor of divergent differentiation. Am J Surg Pathol. 1993 Apr;17(4):382-91. PMID: #7684203#

 Manivel JC, Priest JR, Watterson J, Steiner M, Woods WG, Wick MR, Dehner LP. Pleuropulmonary blastoma. The so-called pulmonary blastoma of childhood. Cancer. 1988 Oct 15;62(8):1516-26. PMID: #3048630#