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 carcino...
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| Format: | Article |
| Language: | English |
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Wiley
2024-12-01
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| Series: | Cancer Reports |
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| Online Access: | https://doi.org/10.1002/cnr2.70068 |
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| author | SooHo Yu Min‐Seung Park Gyu Yeong Kim Junhun Cho Chul Won Jung Hee‐Jin Kim Hyun‐Young Kim |
| author_facet | SooHo Yu Min‐Seung Park Gyu Yeong Kim Junhun Cho Chul Won Jung Hee‐Jin Kim Hyun‐Young Kim |
| author_sort | SooHo Yu |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-2bc9f729041d4b93908932bfec9a0a3c |
| institution | Kabale University |
| issn | 2573-8348 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Wiley |
| record_format | Article |
| series | Cancer Reports |
| spelling | doaj-art-2bc9f729041d4b93908932bfec9a0a3c2024-12-30T06:30:32ZengWileyCancer Reports2573-83482024-12-01712n/an/a10.1002/cnr2.70068Rare Case of Germline GATA2‐Deficiency With Merkel Cell Carcinoma and Acute Myeloid LeukemiaSooHo Yu0Min‐Seung Park1Gyu Yeong Kim2Junhun Cho3Chul Won Jung4Hee‐Jin Kim5Hyun‐Young Kim6Department of Laboratory Medicine and Genetics, Samsung Medical Center Sungkyunkwan University School of Medicine Seoul KoreaDepartment of Laboratory Medicine, Kangbuk Samsung Hospital Sungkyunkwan University School of Medicine Seoul KoreaDepartment of Pathology and Translational Genomics, Samsung Medical Center Sungkyunkwan University School of Medicine Seoul KoreaDepartment of Pathology and Translational Genomics, Samsung Medical Center Sungkyunkwan University School of Medicine Seoul KoreaDivision of Hematology‐Oncology, Department of Medicine, Samsung Medical Center Sungkyunkwan University School of Medicine Seoul KoreaDepartment of Laboratory Medicine and Genetics, Samsung Medical Center Sungkyunkwan University School of Medicine Seoul KoreaDepartment of Laboratory Medicine and Genetics, Samsung Medical Center Sungkyunkwan University School of Medicine Seoul KoreaABSTRACT 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.https://doi.org/10.1002/cnr2.70068acute myeloid leukemiaGATA2‐defieciencyMerkel cell carcinoma |
| spellingShingle | SooHo Yu Min‐Seung Park Gyu Yeong Kim Junhun Cho Chul Won Jung Hee‐Jin Kim Hyun‐Young Kim Rare Case of Germline GATA2‐Deficiency With Merkel Cell Carcinoma and Acute Myeloid Leukemia Cancer Reports acute myeloid leukemia GATA2‐defieciency Merkel cell carcinoma |
| title | Rare Case of Germline GATA2‐Deficiency With Merkel Cell Carcinoma and Acute Myeloid Leukemia |
| title_full | Rare Case of Germline GATA2‐Deficiency With Merkel Cell Carcinoma and Acute Myeloid Leukemia |
| title_fullStr | Rare Case of Germline GATA2‐Deficiency With Merkel Cell Carcinoma and Acute Myeloid Leukemia |
| title_full_unstemmed | Rare Case of Germline GATA2‐Deficiency With Merkel Cell Carcinoma and Acute Myeloid Leukemia |
| title_short | Rare Case of Germline GATA2‐Deficiency With Merkel Cell Carcinoma and Acute Myeloid Leukemia |
| title_sort | rare case of germline gata2 deficiency with merkel cell carcinoma and acute myeloid leukemia |
| topic | acute myeloid leukemia GATA2‐defieciency Merkel cell carcinoma |
| url | https://doi.org/10.1002/cnr2.70068 |
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