Severe therapy-related toxicities after treatment for Hodgkin lymphoma due to a pathogenic TERT variant and shortened telomeres

Pediatr Blood Cancer. 2019 Aug;66(8):e27779. doi: 10.1002/pbc.27779. Epub 2019 May 2.


Telomere biology disorders predispose affected individuals to specific malignancies and organ fibrosis in tissues sensitive to telomere length (TL) shortening, especially after exposure to chemotherapy and radiation. We report a case of a 17-year-old female with Hodgkin lymphoma who developed severe chemotherapy-related toxicities. She was subsequently found to have peripheral blood lymphocyte TL < 1st percentile and a pathogenic variant in TERT inherited from her father. This case demonstrates that early genetic evaluation of patients who experience greater than expected therapy-related toxicities may be warranted to help guide further decisions regarding therapy, imaging modalities, and lifelong cancer prevention surveillance.

Keywords: Hodgkin disease; MDS; late effects of cancer treatment; lymphoma; molecular genetics; telomerase.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • Adolescent
  • Adult
  • Antineoplastic Combined Chemotherapy Protocols / adverse effects*
  • Female
  • Hodgkin Disease / drug therapy*
  • Hodgkin Disease / genetics
  • Hodgkin Disease / pathology
  • Humans
  • Male
  • Mutation*
  • Neutropenia / chemically induced
  • Neutropenia / genetics
  • Neutropenia / pathology*
  • Peripheral Nervous System Diseases / chemically induced
  • Peripheral Nervous System Diseases / genetics
  • Peripheral Nervous System Diseases / pathology*
  • Prognosis
  • Severity of Illness Index
  • Telomerase / genetics*
  • Telomere Shortening / genetics*


  • TERT protein, human
  • Telomerase