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Poster Display - 171
Unusual presentation of pleuropulmonary blastoma: the importance of differential diagnosis and the role of DICER-1 mutation
Perla Bonifazi 1, Anna Morandi 1, Martina Ichino 1, Antonio Di Cesare 1, Giulia del Re 1, Francesco Macchini 2, Ernesto Leva 1
1 Department of pediatric surgery, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy
2 Department of Paediatric Surgery, ASST Grande Hospital Metropolitano Niguarda, Milan
Introduction:
Management of congenital lung malformations (CLM) remains controversial. While 75% of CLM are asymptomatic, infections, pneumothorax and malignancy risk demand surgery. Moreover, distinguishing between CLM and neoplasms at imaging can be challenging, with the final diagnosis usually reached on histological samples. Pleuropulmonary blastoma (PPB) can present DICER-1 mutation, whose diagnosis can guide therapeutic decisions. We present two cases of pulmonary lesions with unusual presentation and histological diagnosis of PPB.
Clinical Cases:
Case 1- A three-year-old male was referred to our centre following back trauma. At the emergency department he presented hemothorax. CT showed active bleeding from an anomalous artery (embolized) and a pulmonary lesion in the medio-inferior area of right hemithorax (8.5x9 x7.3 cm). Thoracotomic biopsy diagnosed PPB, requiring neoadjuvant chemotherapy (4 IVADO cycles). Thoracotomic atypical resection of the medium lobe, partial homolateral diaphragm, and subtotal pleurectomy were performed. Histology reported PPB type II on a pulmonary sequestration, with somatic and germinal mutation of DICER-1 gene. No recurrence at five years follow-up.
Case 2- A three-year-old female presented at the emergency department with fever and coughing. X-ray showed a cystic lesion in the superior left hemithorax. CT confirmed a 4.9x7.6x5.1cm lesion in the apico-dorsal segment of left upper lobe (LUL), and 3 bullous lesions (diameter:1 cm) in the right inferior lobe (RIL). Thoracoscopic wedge resection of LUL lesion was performed. Histology reported PPB type Ir, with somatic and germinal DICER-1 mutation. At 3 months follow-up recurrence in LUL was found, with unchanged RIL lesions. A relook-thoracoscopic resection of LUL lesion was completed.
Conclusions:
Despite PPB being rare, its high morbidity and mortality compel us to consider PPB in differential diagnosis of lung lesions. DICER-1 mutation can guide therapeutic decision. A multidisciplinary follow-up is mandatory to prevent subsequent neoplasms in DICER-1 syndrome.