Clinical and molecular features of pleuropulmonary blastoma in children in Hong Kong: case reports

• Published in: Hong Kong medical journal = Xianggang yi xue za zhi 2022-08, Vol.28 (4), p.328
• Main Authors: Anthony PY Liu, Fung, Marcus KL, Lee, Mianne, Fung, Jasmine LF, Tsang, Mandy HY, Luk, C W, Chung, Brian HY, Chan, Godfrey CF
• Format: Article
• Language: English
• Subjects: Age; Cancer therapies; Chemotherapy; Dyspnea; Mutation; Ostomy; Patients; Pediatrics; Pleural effusion; Pneumothorax; Radiation therapy; Remission (Medicine); Surveillance; Thoracic surgery; Thorax; Tomography
• ISSN: 1024-2708; 2226-8707
• DOI: 10.12809/hkmj219503

The amino acid numbering used begins with the Kozak consensus sequence. *: stop codon Discussion Pleuropulmonary blastoma is a rare thoracic tumour that arises during infancy or young childhood.1Its aggressiveness and presenting features vary according to the histological subtype, ranging from the self-limiting cystic form (type I) with potential to undergo spontaneous regression (type Ir) or the mixed cystic/solid form (type II) that would benefit from adjuvant cytotoxic treatment, to a solid form (type III) that carries a considerable risk of disease relapse despite multimodal therapy. Because of its rarity, data on the presentation and molecular features of patients with PPB in Chinese are limited and that in Hong Kong have never been reported. Among those where resection has been performed, 90% will remain progression-free without the use of adjuvant chemotherapy.1 Type II and III PPB are differential diagnoses for young children (age [lesser than]6 years) who present with a space-occupying thoracic mass or apparent, persistent chest infection. In our series, novel heterozygous germline DICER1frameshift mutations were found in cases 2 and 3; while a heterozygous germline nonsense mutation, reported recently in another Chinese patient, was detected in Case 4 (Fig 4).4 The findings of our case series add to the spectrum of known DICER1mutations, especially to the very limited data from Asia.4 Diagnosing DICER1 syndrome facilitates surveillance of associated morbidities, familial testing and reproductive counselling for both probands and symptomatic carriers.5 Further studies and consideration of a prospective patient registry to define the prevalence of DICER1-associated conditions in both paediatric and adult populations in Hong Kong are warranted.