Pleuropulmonary Blastoma (PPB)

Overview

Pleuropulmonary blastoma (PPB) is the most common primary malignant lung tumor of childhood, arising in the lung parenchyma and pleura in young children (typically <6 years). It is strongly associated with germline or somatic DICER1 mutations. PPB is classified into three types: Type I (cystic, favorable), Type II (mixed cystic/solid), and Type III (solid, aggressive). DICER1 syndrome encompasses PPB, cystic nephroma, ovarian Sertoli-Leydig cell tumor, thyroid tumors, and other rare neoplasms.

Cohorts in the corpus

  • mixed_pipseq_2017 — PIPseq pediatric pan-cancer cohort (Columbia University Medical Center), which includes a PPB case among 101 high-risk pediatric patients PMID:28007021.

Recurrent alterations

  • PIPseq cohort: DICER1 E1813G mutation identified in a PPB patient as a health-maintenance flag for DICER1 syndrome — prompting screening of family members for DICER1-syndrome-associated tumors (particularly Sertoli-Leydig cell tumors of the ovary) PMID:28007021.

Subtypes

  • Type I (purely cystic): favorable; risk of progression to Type II/III if not resected.
  • Type II (mixed cystic and solid): intermediate.
  • Type III (purely solid): aggressive; poor prognosis.

Therapeutic landscape

  • Surgical resection is primary treatment; chemotherapy (IVADo or similar regimens) for Type II and III; no standard targeted therapy based on DICER1 status.

Sources

  • PMID:28007021 — Oberg et al. PIPseq pediatric pan-cancer sequencing program (n=101).

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