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To progress or not to progress: new insights into the evolution of pleuropulmonary blastomas come from studying lung cysts in adolescents and adults with DICER1-related tumour predisposition
  1. Eric Santoni-Rugiu1,2
  1. 1Department of Pathology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark
  2. 2Department of Clinical Medicine, University of Copenhagen, Faculty of Health and Medical Sciences, Copenhagen, Denmark
  1. Correspondence to Dr Eric Santoni-Rugiu, Department of Pathology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark; eric.santoni-rugiu.02{at}regionh.dk

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Almost all cases of pleuropulmonary blastoma (PPB), the most common lung malignancy in childhood, are related to biallelic pathogenic variants in DICER1, a gene encoding an RNase III involved in the biogenesis of micro-RNAs, organogenesis and tumor suppression.1 2 Over 70% of patients with PPB are affected by the pleiotropic DICER1-related tumour susceptibility syndrome caused by heterozygous germline DICER1 loss-of-function variants. After a second somatic DICER1 missense mutation has occurred, these individuals may develop PPB, other tumours and non-neoplastic conditions in the thyroid gland, genitourinary system, and several other extrapulmonary sites.2–4

During the first 7 years of life, PPB can progress through age-related, increasingly more aggressive, pathological types.2 5 6 Type I PPB is a peripheral, multilocular, cystic lesion with epithelium-covered stromal septa containing variable subepithelial aggregates of primitive malignant mesenchymal (blastemal) cells.2 It is diagnosed at a median age of 7 months and has a favourable postoperative 5-year overall survival (OS) of 98%, according to the International PPB/DICER1 Registry (IPPB/D1R).5 Instead, type II PPB is diagnosed at a median age of 35 months, has a 5-year OS of ≈70% and consists of a mixture of cystic areas and solid, grossly visible parts with sarcomatous elements and more numerous blastemal cells.1 2 6 Type III PPB, diagnosed at a median age of 39 months, has the worst outcome (5-year OS of 53%) being an entirely solid mass that, besides undifferentiated blastemal cells, may contain various sarcomatous tissues and sometimes clusters of anaplastic giant cells.1 2 6

Importantly, type I PPBs do not always progress but may remain as such or as multilocular or unilocular cystic lesion, named type Ir (regressed or non-progressed) PPB that is very similar …

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Footnotes

  • Twitter @ESantoniRugiu

  • Contributors I am the only author of the Editorial and wrote it. I was invited to write it by the Thorax Editorial Office.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests ES-R has received honoraria for lectures and advisory boards unrelated to the subject of the Editorial from Amgen, AstraZeneca, Bayer, Bristol-Myers Squibb, Roche and Takeda as well as research grants unrelated to the subject of the Editorial from Sanofi and Takeda. No research funding has been used for this Editorial.

  • Provenance and peer review Commissioned; internally peer-reviewed.

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