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June 20, 2019

Birth Defects and Cancer in Childhood—Dual Diseases of Development

Author Affiliations
  • 1Division of Epidemiology and Clinical Research, Department of Pediatrics, University of Minnesota Medical School, Minneapolis
  • 2Department of Epidemiology, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, Chapel Hill
JAMA Oncol. 2019;5(8):1105-1107. doi:10.1001/jamaoncol.2019.1207

Most forms of childhood cancer appear to have an initiating event in utero. Circumstantial evidence in support of this hypothesis include the young age at onset and histologic resemblance of some cancer cells to embryonic cells. Direct evidence comes from case reports of prenatal diagnosis of solid tumors1 and detection of translocations typical of leukemia in samples collected perinatally.2 Because of the importance of in utero genetic alterations and possibly environmental events, the association of birth defects with childhood cancer seems highly plausible. Indeed, well-known syndromes such as trisomy 21, WAGR (Wilms tumor, aniridia, genitourinary abnormalities or gonadoblastoma, and mental retardation), Beckwith-Wiedemann, and Rothmund-Thomson feature congenital anomalies and an elevated risk of cancer in childhood, often among a wider constellation of symptoms. In the current issue of JAMA Oncology, Lupo et al3 have further quantified known birth defect–childhood cancer associations and have identified potential new ones.