Rare Case of Germline GATA2-Deficiency With Merkel Cell Carcinoma and Acute Myeloid Leukemia

Cancer Rep (Hoboken). 2024 Dec;7(12):e70068. doi: 10.1002/cnr2.70068.

Abstract

Background: Germline GATA2-deficiency usually manifests as immunodeficiencies and myeloid neoplasms and sometimes with dermatological diseases, including warts, panniculitis, and skin cancers.

Case: We report a 36-year-old woman with germline GATA2-deficiency who developed Merkel cell carcinoma followed by acute myeloid leukemia. Molecular analysis revealed a germline GATA2 S447R variant, not reported from the previous reported case, suggesting a potential association with Merkel cell carcinoma.

Conclusion: This case broadens the spectrum of solid cancers linked to GATA2-deficiency, emphasizing the need for considering primary immunodeficiency in young patients with myeloid neoplasms or rare skin cancers, facilitating early detection and treatments.

Keywords: GATA2‐defieciency; Merkel cell carcinoma; acute myeloid leukemia.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Carcinoma, Merkel Cell* / diagnosis
  • Carcinoma, Merkel Cell* / genetics
  • Carcinoma, Merkel Cell* / pathology
  • Female
  • GATA2 Deficiency* / complications
  • GATA2 Deficiency* / diagnosis
  • GATA2 Deficiency* / genetics
  • GATA2 Deficiency* / pathology
  • GATA2 Transcription Factor* / deficiency
  • GATA2 Transcription Factor* / genetics
  • Germ-Line Mutation*
  • Humans
  • Leukemia, Myeloid, Acute* / complications
  • Leukemia, Myeloid, Acute* / diagnosis
  • Leukemia, Myeloid, Acute* / genetics
  • Leukemia, Myeloid, Acute* / pathology
  • Skin Neoplasms* / diagnosis
  • Skin Neoplasms* / genetics
  • Skin Neoplasms* / pathology

Substances

  • GATA2 protein, human
  • GATA2 Transcription Factor