Pleuropulmonary blastoma: case report in a child 8 years old

Cover Page

Cite item

Full Text

Open Access Open Access
Restricted Access Access granted
Restricted Access Subscription or Fee Access


Pleuropulmonary blastoma is a very rare primary fetal tumor of the lung and pleura in young children and is associated with a mutation in the DICER1 gene. Based on the histological picture, three types of this tumor are distinguished: cystic (type I), solid cystic (II), solid (type III). Treatment is surgical followed by polychemotherapy. The prognosis is unfavorable.

The authors bring to the attention of colleagues a description of a clinical case of pleuropulmonary blastoma in an 8-year-old child, diagnosed against the background of an acute respiratory viral infection. He fell ill acutely with a rise in temperature and an unproductive cough. The condition was regarded as a course of an acute respiratory viral infection, symptomatic therapy was carried out. After 8 days from the onset of respiratory viral infection, there is a sharp deterioration in the condition in the form of shortness of breath, refusal to eat and drink, and weakness. The child is hospitalized in a Central District Hospital, differential diagnosis with pneumonia is carried out. According to the examination (plain radiograph and CT scan of the chest), a large volumetric formation with even contours is visualized in the right lung. The patient is transferred to a specialized hospital in St. Petersburg. After an MRI of the chest organs with contrast, taking a biopsy material and performing a histological examination, the patient was diagnosed with a tumor of the right lung — pleuropulmonary blastoma type II.

This clinical case of a rare malignant tumor in an 8-year-old child with congenital heart disease and cerebral palsy may demonstrate a severe variant of systemic connective tissue dysplasia and gene mutation.

Full Text

Restricted Access

About the authors

Yuliya R. Zaripova

Petrozavodsk State University

Author for correspondence.
ORCID iD: 0000-0002-6907-2382

MD, PhD, Dr. Sci. (Med.), Head of the Department of Pediatrics and Pediatric Surgery, School of Medicine

Russian Federation, Petrozavodsk, Republic of Karelia

Elena A. Muss

Sortavala Central District Hospital

ORCID iD: 0000-0003-1804-0820

Head of the Pediatric Department. Sortavala Central District Hospital

Russian Federation, Sortavala, Republic of Karelia

Vadim G. Arsentev

Kirov Military Medical Academy

ORCID iD: 0000-0002-3135-0412

MD, PhD, Dr. Sci. (Med.), Head of the Department of Children's Diseases

Russian Federation, Saint Petersburg


  1. Babinskaya SA, Kalinchenko NYu, Ilyin AA, et al. A clinical case of hereditary papillary thyroid carcinoma associated with a germline DICER1 gene mutation. Problems of Endocrinology. 2017;63(5):320–324. (In Russ.) doi: 10.14341/probl2017635320-324
  2. Davydov MI, Aksel’ EM, editors. Statistika zlokachestvennykh obrazovanii v Rossii i stranakh SNG v 2012 g. Moscow: Izdatel’skaya gruppa RONTS, 2014. 226 p. (In Russ.)
  3. Petrikova NI, Efremenkov AM, Ignatiev EM, Snitkin NA. Pleuropulmonary blastoma: literature review and proper clinical supervision. Onkopediatriya. 2014;(4):52–55. (In Russ.)
  4. Stashuk GA, Pykhteev DA, Kazantseva IA, et al. A rare lung malignancy in a 3-year-old child. Almanac of Clinical Medicine. 2015;(43): 120–126. (In Russ.)
  5. Chernekhovskaya NE, Fedchenko GG, Andreev VG, Povalyaev AV. Rentgeno-ehndoskopicheskaya diagnostika zabolevanii organov dykhaniya. Moscow: MEDpress-inform, 2007. 241 p. (In Russ.)
  6. Schultz KAP, Williams GM, Kachanov DYu, et al. DICER1 syndrome and pleuropulmonary blastoma: a report from the International Pleuropulmonary Blastoma Registry. Russian Journal of Pediatric Hematology and Oncology. 2017;4(4):9–19. (In Russ.) doi: 10.17650/2311-1267-2017-4-4-13-19
  7. Barnard WG. Embryoma of lungs. Thorax. 1952;7(4): 299–301. doi: 10.1136/thx.7.4.299
  8. Bisogno G, Sarnacki S, Stachowicz-Stencel T, et al. Pleuropulmonary blastoma in children and adolescents: TheEXPeRT/PARTNER diagnostic and therapeutic recommendations. Pediatr Blood Cancer. 2021;68(S4): e29045. doi: 10.1002/pbc.29045
  9. Cutler CS, Michel RP, Yassa M, Langleben A. Pulmonary blastoma: case report of a patient with a 7-year remission and review of chemotherapy experience in the world literature. Cancer. 1998;82(3):462–467. doi: 10.1002/(SICI)1097-0142(19980201)82:3<462:: AID-CNCR6>3.0.CO;2-R
  10. Dehner LP, Messinger YH, Schultz KA, et al. Pleuropulmonary blastoma: evolution of an entity as an entry into a familial tumor predisposition syndrome. Pediatr Dev Pathol. 2015;18(6):504–511. doi: 10.2350/15-10-1732-OA.1
  11. Dehner LP, Schultz KA, Hill DA. Pleuropulmonary blastoma: more than a lung neoplasm of childhood. Mo Med. 2019;116(3):206–210.
  12. Faure A, Atkinson J, Bouty A, et al. DICER1 pleu-ropulmonary blastoma familial tumour predisposition syndrome. J Pediatr Urol. 2016;12(1):5–10. doi: 10.1016/j.jpurol.2015.08.012
  13. González IA, Stewart DR, Schultz KAP, et al. DICER1 tumor predisposition syndrome: an evolving story initiated with the pleuropulmonary blastoma. Mod Pathol. 2022;35(1):4–22. doi: 10.1038/s41379-021-00905-8
  14. Gutbrod MJ, Roche B, Steinberg JI, et al. Dicer promotes genome stability via the bromodomain transcriptional co-activator BRD4. Nat Commun. 2022;13:1001. doi: 10.1038/s41467-022-28554-8
  15. Haider F, Al Saad K, Al-Hashimi F, Al-Hashimi H. It’s rare so be aware: pleuropulmonary blastoma mimicking congenital pulmonary airway malformation. Thorac Cardiovasc Surg Rep. 2017;6(1):e10–e14. doi: 10.1055/s-0037-1598625
  16. Hamad SG, Al-Naimi A, Abu-Hasan M. Pleuropulmonary blastoma (PPB) in child with DICER1 mutation: the first case report in the state of qatar. Case Rep Pulmonol. 2021;2021:1983864. doi: 10.1155/2021/1983864
  17. Al Absi HS, Konstantinopoulou S, Al Junaibi AA, et al. Type I regressed pleuropulmonary blastoma in a 10-year-old boy. Indian J Thorac Cardiovasc Surg. 2019;35(4): 579–583. doi: 10.1007/s12055-019-00814-1
  18. 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(2):282–295. doi: 10.1097/PAS.0b013e3181484165
  19. Hill DA, Ivanovich J, Priest JR, et al. DICER1 mutations in familial pleuropulmonary blastoma. Science. 2009;325(5943):965. doi: 10.1126/sci-ence.1174334
  20. Hill DA, Doros L, Schultz KA, et al. DICER1-related disorders. R.A. Pagon, editor. GeneReviews™. Seattle: University of Washington, 2014.
  21. Lee RC, Feinbaum RL, Ambros V. The C elegans heterochronic gene lin-4 encodes small RNAs with antisense complementarity to lin-14. Cell. 1993;75(5):843–854. doi: 10.1016/0092-8674(93)90529-Y
  22. Manivel JC, Priest JR, Watterson J, et al. Pleuropulmonary blastoma. The so-called pulmonary blastoma of childhood. Cancer. 1988;62(8):1516–1526. doi: 10.1002/1097-0142(19881015)62:8<1516:: AID-CNCR2820620812>3.0.CO;2-3
  23. Messinger YH, Stewart DR, Priest JR, et al. Pleuropulmonary blastoma: a report on 350 central pathology-confirmed pleuropulmonary blastoma cases by the International Pleuropulmonary Blastoma Registry. Cancer. 2015;121(2):276–285. doi: 10.1002/cncr.29032
  24. Miniati DN, Chintagumpala M, Langston C, et al. Prenatal presentation and outcome of children with pleuropulmonary blastoma. J Pediatr Surg. 2006;41(1): 66–71. doi: 10.1016/j.jpedsurg.2005.10.074
  25. Priest JR, Watterson J, Strong L, et al. Pleuropulmonary blastoma: a marker for familial disease. J Pediatr. 1996;128(2):220–224. doi: 10.1016/S0022-3476(96)70393-1
  26. Priest JR, McDermott MB, Bhatia S, et al. Pleuropulmonary blastoma: a clinicopathologic study of 50 cases. Cancer. 1997;80(1):147–161. doi: 10.1002/(SICI)1097-0142(19970701)80:1<147::AID-CNCR20>3.0.CO;2-X
  27. Priest JR, Andic D, Arbuckle S, et al. Great vessel/cardiac extension and tumor embolism in pleuropulmonary blastoma: a report from the International Pleuropulmonary Blastoma Registry. Pediatr Blood Cancer. 2011;56(4):604–609. doi: 10.1002/pbc.22583
  28. Spahiu L, Baruti-Gafurri Z, Grajçevci-Uka V, et al. Type II pleuropulmonary blastoma in a 4 month old infant with negative dicer1 mutation on next generation sequencing. Case Rep Med Arch. 2021;75(1):61–65. doi: 10.5455/medarh.2021.75.61-65
  29. Spencer H. Pulmonary blastoma. J Pathol Bacteriol. 1961;82(1):161–165. doi: 10.1002/path.1700820119
  30. Steliarova-Foucher E, Stiller C, Lacour B, Kaatsch P. International Classification of Childhood Cancer, 3rd edition. Cancer. 2005;103(7):1457–1467. doi: 10.1002/cncr.20910
  31. Stocker JT, Hussain AN, Dehner LP. Pediatric tumors. Dail and Hammar’s Pulmonary Pathology. 3rd edition. Vol. II. J.F. Tomashefski, P.T. Cagle, С.F. Farver, A.E. Fraire, editors. New York: Springer, 2008. 542–557 p.
  32. Zhang N, Zeng Q, Ma X, et al. Diagnosis and treatment of pleuropulmonary blastoma in children: A single-center report of 41 cases. J Pediatr Surg. 2020;55(7): 1351–1355. doi: 10.1016/j.jpedsurg.2019.06.009

Supplementary files

Supplementary Files
1. Fig. 1. Patient 8-year-old. Chest radiograph [direct (a) and right lateral (b) chest X-ray] — in the S6 projection, a huge mass with even and clear contours, a dense picture, not accompanied by a violation of bronchial patency

Download (181KB)
2. Fig. 2. Patient 8-year-old. Axial CECT chest images — giant solid mass in the 6th segment of the right lower

Download (123KB)

Copyright (c) 2022 Eco-Vector

СМИ зарегистрировано Федеральной службой по надзору в сфере связи, информационных технологий и массовых коммуникаций (Роскомнадзор).
Регистрационный номер и дата принятия решения о регистрации СМИ: серия ПИ № ФС 77 - 69634 от 15.03.2021 г.

This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies