pleuropulmonary blastoma

Definition: 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.

Images

 Pleuropulmonary blastoma (PPB)

• https://twitter.com/amy_treece13/status/875049771341418496
• https://twitter.com/AngelPathology/status/875140925978181632

Digital cases

 HPC:47 : PPB type 1 and 2.
 HPC:66 : PPB NOS.
 HPC:11 : PPB type 1.
 HPC:163 : PPB type 2.
 HPC:164 : PPB type 2.
 HPC:195 : Fetal PPB type 1.
 JRC:6115 : Pleuropulmonary blastoma (PPB).

Types

 type 1 pleuropulmonary blastoma (purely cystic PPB)
 type 2 Pleuropulmonary blastoma (solid and cystic PPB)

Epidemiology

 sporadic pleuropulmonary blastoma
 familial pleuropulmonary blastoma (8636815)

Macroscopy

 cystic or solid (10870072)
 unilateral or bilateral (10839886)

Variants

 epithelial pulmonary blastoma: low-grade adenocarcinoma of the fetal lung type (L-FLAC)/well-differentiated fetal adenocarcinoma (WDFA)

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 (CCAM) (11475118, 10968242, 9343020, 8917252, 12883247)

 renal cystic lesions

• cystic nephroma in CNPPB syndrome (16808637, 10881016, 8382107)

 tumors

• medulloblastoma
• thyroid tumors
• sarcomas
• intestinal hamartomatous polyp (10442587)
• ovarian teratoma (10602867)
• carcinosarcoma (7982680)
• neurofibromatosis (8432176)
• hematological proliferations
• colonic hamartomatous polyp
• nasal chondroid hamartoma (nasal chondromesenchymal hamartoma) (17091268)

 other conditions

• fatal hypercalcemia (9154681)

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

Cytogenetics

 trisomy 2 (12660036, 9236843), 2q anomalies (8063284)
 trisomy 8 (12660036, 11910518, 11779045, 9050063, 10890933, 17163790), 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

CGH (15104284)

Molecular biology

 p53 mutations (2/3) (11881786, 9236836, 9224760, 8912818)
 beta-catenin gene (CTNNB1) missense mutations in epithelial pulmonary blastoma (15223963, 12754743)
 DICER1 mutations in familial forms

Target regions

Differential diagnosis

 congenital pumonary airways malformations (pulmonary cystic adenomatoid malformations - PCAMs)
 blastomatoid variant of carcinosarcoma (BCS)

Links

 The International Pleuropulmonary Blastoma Registry
 Pleuropulmonary blastoma website at Washington University in St.Louis, MI

References

 Boman F, Hill DA, Williams GM, Chauvenet A, Fournet JC, Soglio DB, Messinger Y, Priest JR. Familial association of pleuropulmonary blastoma with cystic nephroma and other renal tumors: a report from the International Pleuropulmonary Blastoma Registry. J Pediatr. 2006 Dec;149(6):850-854. PMID: 17137906

 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

 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

 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