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

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.

FIGURE 1

(A) Skin lesion of Merkel cell carcinoma (MCC). (B) Skin biopsy (hematoxylin and eosin staining, ×100) with diffusely infiltrative MCC, (C) with pure neuroendocrine morphology (×200), and (D) mature neuroendocrine carcinoma with salt and pepper nuclear chromatin pattern and indistinct nucleoli (×400). The neoplastic cells were (E) CK20‐positive with a dot‐like paranuclear pattern (×400) and (F) synaptophysin–positive with a diffuse cytoplasmic pattern (×200). Scale bars are 100 μm.

FIGURE 2

Bone marrow (BM) aspiration and biopsy. Increased leukemic blasts were observed in (A) BM aspiration (Wright–Giemsa stain, ×400) and (B) biopsy (hematoxylin and eosin staining, ×100). Leukemic blasts were (C) CD34–positive and (D) MPO–positive (×200). Scale bars are 100 μm.