title: Merkel cell carcinoma in a patient with GATA2 deficiency: a novel association with primary immunodeficiency.
abstract: A 55-year-old woman with GATA2 deficiency and neurofibromatosis 1 was diagnosed with Merkel cell carcinoma (MCC). This polyomavirus-associated cutaneous malignancy has previously been associated with immunosuppression and acquired immunodeficiencies such as HIV/AIDS. However, MCC has not been previously reported in the setting of underlying primary or inherited immunodeficiency.
authors.affiliation: Harvard Medical School, Boston, MA, U.S.A.
authors.forename: C
authors.initials: C
authors.lastname: Crall
authors.affiliation: Harvard Combined Dermatology Program, Boston, MA, U.S.A.
authors.forename: K W
authors.initials: KW
authors.lastname: Morley
authors.affiliation: Department of Medical Oncology, Dana-Farber Cancer Institute and Brigham and Women's Hospital, Boston, MA, U.S.A.
authors.forename: G
authors.initials: G
authors.lastname: Rabinowits
authors.affiliation: Department of Pathology, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA 02115, U.S.A.
authors.forename: B
authors.initials: B
authors.lastname: Schmidt
authors.affiliation: Division of Allergy/Immunology, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA 02115, U.S.A.
authors.forename: A
authors.initials: A
authors.lastname: Dioun  Broyles
authors.affiliation: Dermatology Program, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA 02115, U.S.A.
authors.forename: J T
authors.initials: JT
authors.lastname: Huang
mesh_terms: D015266:Carcinoma, Merkel Cell / Q000276:immunology* / Q000473:pathology; D005260:Female; D050989:GATA2 Transcription Factor / Q000172:deficiency*; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000276:immunology* / Q000473:pathology; D008875:Middle Aged; D012878:Skin Neoplasms / Q000276:immunology* / Q000473:pathology
chemical_list: D050989:GATA2 Transcription Factor; C494711:GATA2 protein, human