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J M e d A l l i e d S c i 2 0 1 7 ; 7 ( 1 ) : 67- 71 Journal of www.jmas.in M edical & Print ISSN: 2 2 3 1 1 6 9 6 Online ISSN: 2 2 3 1 1 7 0 X Allied Sciences

Case report Bilateral pleuropulmonary (PPB) in a 2- year-old girl: A case report with review of literature Pradosh Kumar Sarangi, H. S. Sagar, Sanjay Kumar Nahak, Jayashree Mohanty, Sasmita Parida Department of Radiodiagnosis, S. C. B. Medical College & Hospital, Manglabag, Cuttack-753007, Odisha, India. Article history: Abstract Received 12 December 2016 (PPB) is a rare aggressive malignant tumor of Revised 18 January 2017 infancy and early childhood accounting for 0.25-0.5% of primary tu- Accepted 24 January 2017 Early online 28 January 2017 mors. PPB is a dysontogenic tumor composed of immature malignant epi- Print 31 January 2017 thelial and/or mesenchymal tissues whose features may resemble early embryological lung tissues. It is the pulmonary analog of other tumors of Corresponding author childhood including Wilms' tumor, neuroblastoma, , Pradosh Kumar Sarangi and retinoblastoma. Morphologically, PPB has three

Junior Resident, types (I, II, and III). A fourth type (Ir) was added in 2006 by PPB registry. Department of Radiodiagnosis, Type II and III are very aggressive with metastatic potential. S. C. B. Medical College & Hospital, Manglabag, Cuttack-753007, Bilateral PPB is very rare. To the best of our knowledge, only two cases of Odisha, India. bilateral PPB have been reported. No cases of bilateral PPB have been Phone: +91-7735860824 reported from India. Herein, we are reporting a case of bilateral PPB (type Email: [email protected] II) in a 2-year-old girl who presented with , dyspnea and mild fever for past 4 months. She died few days after admission. Key words: Bilateral pleuropulmonary blastoma, Bronchogenic , Congenital pulmonary airway malformations, Dysontogenic tumor, PPB registry, Primitive neuroectodermal tumors DOI: 10.5455/jmas.252500 © 2017 Deccan College of Medical Sciences. All rights reserved.

leuropulmonary blastoma (PPB) is a rare tal muscle, cartilage, fibrous tissue, sometimes fat intrathoracic tumor accounting for 15% of all and most often includes epithelium. The P primary pediatric pulmonary tumors1. Other mesenchymal elements are regarded as malignant3. primary pediatric pulmonary tumors include bron- They usually occur exclusively in children younger chogenic and bronchial adenoma. About than 5 years and there is no gender predilection and 25% of PPB cases occur in familial settings showing the tumor occurs more commonly on the right side1. association with other malignant This constitutes a distinct entity different (, synovial , thyroid car- from pulmonary blastoma in adults which is charac- cinoma, ovarian sertoli leydig cell tumors, gonadal terized by immature blastema, stroma and epitheli- germ cell tumors) and benign (thyroid nodule, cystic um; all of neoplastic nature5.There are few reports of nephroma, colonic polyps, neurofibromatosis) tu- bilateral PPB6,7. No cases of bilateral PPB have mors in first and second degree relatives1-4. PPB is been reported from India to the best of our a dysontogenetic intrathoracic neoplasm and ac- knowledge. cording to World Health Organization (WHO) classi- Case report fication of lung tumors they are classified as mesenchymal . It is composed of imma- A 2-year-old girl presented with the complaint of ture mesenchyme, often differentiating toward skele- right sided , mild fever and shortness of

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Sarangi PK et al Bilateral pleuropulmonary blastoma (PPB)

breath for 4 months. She was diagnosed as pneu- monia based on chest X ray findings and started on antibiotics in an outside hospital. But, there was no improvement in patient’s condition. At admission to our hospital, she was dyspneic with respiratory rate of 60/min, BP: 120/70mm Hg, pulse rate: 120/min and oxygen saturation of 91% on room air. Subcos- tal, intercostal retractions and nasal flaring were present. There was no cyanosis or clubbing. She had no significant medical or surgical history. She had no significant family history. Chest examination revealed bilateral dullness on percussion, more on right side. Examination of other systems was unre- markable. Routine blood examination was normal. Chest radiograph showed opacity of the right hemithorax (Fig 1). Thoracic ultra sonography (USG) showed a large homogenous mass in right hemithorax without calcification (Fig 2). Computed tomography (CT) of thorax revealed a large, hypodense homogeneous round tumor with cystic Fig 2. USG Thorax showing a hypoechoic mass lesion. components occupying almost whole of the right hemithorax. Solid components showed moderate Discussion enhancement. Similar lesion of smaller size was PPB present as parenchymal and/or pleural based noted in left hemithorax. The mass lesion abuts mass lesion and divided into three types (I, II, and chest wall and pericardium. Mild right pleural effu- III) based on morphological characteristics by sion noted. There was no evidence of chest wall Dehner et al8. A fourth type (Ir) was added in 2006 invasion, rib erosion or calcification within mass (Fig by PPB registry9. Type Ir (type I-regressed) tumors 3). She underwent USG-guided fine-needle aspira- are cystic containing few spindle shaped cells in the tion cytology (FNAC) which was suggestive of PPB cyst wall with few foci of dystrophic calcification but (Fig 4). She was shifted to pediatric intensive care without subepithelial malignant cell condensation. It unit. Unfortunately, she died few days after admis- might represent a regressed or a genetically des- sion possibly due to respiratory compromise. Based tined but abortive type I tumor. on radiological and cytological findings, diagnosis of bilateral PPB type II was made. Certain genetic mutations are associated with pleuropulmonary blastomas including germ line DICER1 mutation (loss of function) in familial cases, gains of chromosome 8 (most consistent chromo- somal abnormality), trisomy 2, unbalanced translo- cation between chromosomes 1 and X, and p53 mu- tations or deletions2. Type I (14%) tumors are less aggressive ‘Purely Cystic’ tumors which presents at earlier age with median age of diagnosis 10 months8 and 5-year survival rate of 83%. They account for 15 to 20% of all PPB1. The cyst wall is lined by cuboidal or co- lumnar ciliated respiratory epithelium. Under the epi- thelium there is cambium-like areas with proliferation of primitive mesenchymal cells with foci of blastematous cells3,9-11. Type II (48%) tumors are ‘Solid and Cystic’ tumors where cystic lesion shows features of type I PPB and solid lesions shows feature of type III PPB and Fig 1. Chest radiograph PA view showing a pleural-based opacity median age of diagnosis 34 months. Type III (38%) occupying almost the whole of right hemithorax. There is loss of tumors are ‘Purely solid’ with the median age of di- right hemidiaphragmatic silhouette. Subtle opacity is also noted in 10 left middle zone. agnosis of 44 months . Both type II and type III tu- J Med Allied Sci 2017; 7(1) 68

Sarangi PK et al Bilateral pleuropulmonary blastoma (PPB)

mors are more aggressive with 5-year survival rate ing from brain . Metastasis to other areas of 42% despite and radiotherapy. The may lead to signs and symptoms associated with solid component seen in type II and III tumors are abnormalities in the affected organs and systems of similar and show blastematous and sarcomatous the body. Detail family history is needed to rule out characteristics8.The pathogenetic linkage among the familial association. Radiological features show var- cystic, cystic and solid, and solid PPB is supported ied appearance depending upon tumor type. Chest by the recurrence of a type I PPB as type II PPB, X ray shows partial or complete opacification of with both epithelial-lined and complex hemithorax with mediastinal shift to contralateral blastematous and sarcomatous features in the solid side. Transectional imaging shows unilocular cysts, component. These three tumor types form a contin- a multicystic structure, a cyst containing a polypoid uum with progression over time from type I to type III mass, and solid-cystic or entirely solid masses of tumor1. At times type II and III tumors show hemor- variable sizes located peripherally in the lung with or rhagic and necrotic areas may be seen. The histo- without involvement of the pleura or chest wall and logic components of type III PPB generally include may fill the entire hemithorax1,10. blastematous islands, cartilaginous nodules, 1 The diagnosis of PPB is often missed at first, be- rhabdomyoblasts, and anaplastic cells . cause the clinical and radiographic findings are Clinically, the patient presents with chest or upper thought to indicate other respiratory disorders such , fever, dyspnea, cough, hemoptysis, as pneumonia or a benign congenital cyst, particu- anorexia, malaise, or neurological symptoms result- larly a congenital cystic adenomatoid malformation.

Fig 3. (a) Axial Non-contrast computed tomography (CT) mediastinal and lung window showing bilateral homogenous hypodense mass in both hemithoraces, almost occupying whole of the right hemithorax. No evidence of calcification, chest wall invasion, rib erosion was noted. (b) Axial contrast enhanced CT showing few cystic areas within the mass. there is moderate enhancement of the mass. (c) Minimal right pleural effusion noted.

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Sarangi PK et al Bilateral pleuropulmonary blastoma (PPB)

Fig 4. Photomicrograph showing compact zones of primitive blastema-like small cells with hyperchromatic nuclei with high nuclear-to- cytoplasmic ratio and abundant mitoses; spindled and ovoid cells embedded in a myxoid stroma cells embedded in a loose myxoid stroma. Specific imaging findings to favor PPB are right- Due to the presence of the malignant spindle cell sided, pleural-based, peripherally located mass component, the differential diagnosis for type II and without chest wall invasion that causes almost com- type III tumors includes primary or secondary plete opacification of the hemithorax and mass ef- rhabdomyosarcoma, malignant teratoma, synovial fect, shows heterogeneously low attenuation with no sarcoma, other spindle cell/undifferentiated sarco- calcification. It may be associated with pleural effu- mas, or pulmonary blastoma, whereas due to the sion and pneumothorax12. presence of primitive blastema, the differential diag- nosis includes metastatic Wilm’s tumor. Location, USG could be preferred before CT or magnetic res- morphology, imaging studies, and immunohisto- onance imaging (MRI) scan because of its low cost, chemistry are helpful in making this differentia- lack of radiation, contrast injection or sedation. 1,3,4,9 tion . Desmin and muscle specific actin are usu- When both pulmonary and pleural lesions are pre- ally positive in the obvious rhabdomyoblasts. sent, distinction between these two lesions is not Immunohistochemical staining mirrors a range of always easy at chest radiographies, USG enables differentiation with vimentin, histiocytic markers or differentiation of pleural pathologies from pulmonary 2 myoid antigens being common . parenchymal lesions. Large consolidation without sonographic air bronchogram finding could also be a General imaging differential considerations include: clue for PPB cases13,14. intrathoracic sarcoma, primitive neuroectodermal tumours (PNET) of thorax, large FNAC may not give conclusive diagnosis always but bronchogenic cyst/lung cyst (for type I), fetal lung it has been used for diagnosis before histologic interstitial tumor (FLIT), types 1 and 4 congenital evaluation of the excised mass15. of multiple pulmonary airway malformations (CPAM's) for type areas of cystic and solid areas is required for accu- 3,4,9,11 1 PPB. . rate diagnosis. A metastatic workup with type II and type III PPB may include CT scans or MRI of the The recommended treatment for type I tumors con- brain as well as CT scans of the abdomen and pel- sists of surgical excision and adjuvant chemothera- vis and whole-body bone scan. Because solid PPB py followed by follow up to look for recurrence. For tumors can extend into the thoracic great vessels, the usual type II and type III tumors, the treatment preoperative echocardiography may be indicated16. consists of aggressive surgery and chemotherapy.

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Sarangi PK et al Bilateral pleuropulmonary blastoma (PPB)

For large type II and type III tumors, after initial con- Weissferdt A, Moran CA (Eds), New York, NY, USA: Spring- firmation by multiple needle core , 2 to 4 er, pp. 157–160, 2011. 4. Priest JP. Pleuropulmonary blastoma. In: Pediatric . courses of neoadjuvant chemotherapy are instituted Rare tumors in children and adolescents. Schneider DT, reducing the tumor size usually by more than 90%, Brecht IB, Oslon TA, Ferrari A (Eds). Berlin, Germany: followed by surgical resection4,9. Springer, pp.213–221, 2012. 5. Manivel JC, Priest JR, Watterson J, Steiner M, Woods WG, In the largest series of PPB published, 5-year sur- Wick MR, Dehner LP. Pleuropulmonary blastoma. The so- vival rates were 83% for type I PPB and 42% for called pulmonary blastoma of childhood. . 1988 Oct 13 15; 62(8):1516-26. type II and type III PPB . It has also been suggest- 6. Picaud JC, Levrey H, Bouvier R, Chappuis JP, Louis D, ed that “extrapulmonary” involvement in PPB, de- Frappaz D, Claris O, Bellon G. Bilateral cystic pleuropul- fined as involvement of “the pleura, diaphragm or monary blastoma in early infancy. J Pediatr. 2000 Jun; ,” indicates a less favorable progno- 136(6):834-6. 17 7. Mott BD, Canver CC, Nazeer T, Buchan A, Ilves R. Staged sis . Metastasis to brain, bone, lymph nodes, liver, resection of bilateral pleuropulmonary blastoma in a two , kidney and adrenal glands is also seen, month old girl. J Cardiovasc Surg (Torino). 2001 Feb; commonest to brain1 which occurs in aggressive 42(1):135-7. forms of PPB: Types II and III PPB. Cerebral metas- 8. Dehner LP. Pleuropulmonary blastoma is THE pulmonary blastoma of childhood. Semin Diagn Pathol. 1994 May; tases occur in 11% of type II and 54% of type III pa- 11(2):144-51. tients and may appear when thoracic disease is un- 9. Ppbregistry.org. The International Pleuropulmonary der control10,13,14. Blastoma Registry, Minnesota. c1988–2014, http://www.ppbregistry.org/. Conclusion 10. Priest JR, Magnuson J, Williams GM, Abromowitch M, Byrd R, Sprinz P, Finkelstein M, Moertel CL, Hill DA. Cerebral Pleuropulmonary blastoma is a rare aggressive ma- metastasis and other central nervous system complications lignant tumor of infancy and early childhood with of pleuropulmonary blastoma. Pediatr Blood Cancer 2007 poor prognosis. A high index of suspicion is needed Sep; 49(3):266-73. 11. Priest JR, McDermott MB, Bhatia S, Watterson J, Manivel to diagnose PPB because clinical and radiographic JC, Dehner LP. Pleuropulmonary blastoma: a findings may mimic other respiratory disorders such clinicopathologic study of 50 cases. Cancer. 1997 Jul; as pneumonia or a type 1 and 4 congenital cystic 80(1):147-61. adenomatoid malformation. Patients’ siblings and 12. Papaioannou G, Sebire NJ, McHugh K. Imaging of the un- usual pediatric ‘blastomas’. Cancer Imaging. 2009 Feb; 9:1- their first-degree relatives should be screened for 11. associated benign and malignant conditions. 13. Naffaa LN, Donnelly LF. Imaging findings in pleuropulmon- ary blastoma. Pediatr Radiol. 2005 Apr; 35(4):387-91. Acknowledgments: None 14. Cobanoglu N, Alicioglu B, Toker A, Galip N, Bassullu N, Dogusoy GB. Radiologic diagnosis of a type-III pleuropul- Source of funding: No funding sources monary blastoma. JBR-BTR 2014 Nov-Dec; 97(6):353–55. 15. Samanta S, Sharma SK. Pleuropulmonary blastoma in 12 Conflict of interest: None declared years old girl: FNAC diagnosis. J Cytol Histol. 2014; S4:011. References 16. Priest JR, Andic D, Arbuckle S, Gonzalez-Gomez I, Hill DA, Williams G. Great vessel/cardiac extension and tumor embo- 1. Stocker JT, Hussain AN, Dehner LP. Pediatric tumors. In: lism in pleuropulmonary blastoma: a report from the Interna- Dail and Hammar’s Pulmonary Pathology. Tomashefski JF, tional Pleuropulmonary Blastoma Registry. Pediatr Blood Cagle PT, Farver CF, Fraire AE (Eds), Vol. II, 3rd ed., New Cancer. 2011 Apr; 56(4):604-9. York, NY, USA: Springer, pp.542–57, 2008. 17. Indolfi P, Casale F, Carli M, Bisogno G, Ninfo V, Cecchetto 2. Yeh YA, Edelman MC. Lung: Pleuropulmonary blastoma. G, Bagnulo S, Santoro N, Giuliano M, Di Tullio MT. Atlas Genet Cytogenet Oncol Haematol. 2011; 15(4):374- Pleuropulmonary blastoma: management and prognosis of 377. 11 cases. Cancer. 2000 Sep 15; 89(6):1396-401. 3. Weissferdt A, Moran CA. Biphasic tumors of the . In: Diagnostic Pathology of Pleuropulmonary Neoplasia.

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