Kiuru Research Lab

Maija Kiuru, M.D., Ph.D.
Professor of Clinical Dermatology
Vice Chair of Academic Affairs
Maija Kiuru's research centers on the genetics of skin tumors and hereditary diseases involving the skin, hair and nails. Her prior works include the discovery of fumarate hydratase mutations in hereditary leiomyomatosis and renal cell cancer (HLRCC or Reed syndrome), PLCD1 mutations in hereditary white nail syndrome, and NF1 mutations in desmoplastic melanoma.
As a practicing dermatopathologist/dermatologist, her research also aims to define molecular alterations in melanocytic nevi (moles) to understand their development, establish markers to improve diagnosis, and identify molecular targets for prevention and treatment.
Kiuru is a recipient of the NIH-NCI funded Paul Calabresi Clinical Oncology K12 Career Development Award as well as the Dermatology Foundation Dermatopathology Career Development Award. She has published numerous peer-reviewed articles, review articles and book chapters, and has lectured at many national and international meetings.
Besides her medical education, Kiuru received her doctorate degree in cancer genetics. She continued to pursue her research interests in genetic medicine as a postdoctoral research fellow at Weill Cornell Medical College and Columbia University, where she studied hereditary skin blistering and hair and nail disorders. She completed her general surgery internship and dermatology training at New York Presbyterian Hospital – Weill Cornell Medical Center. Following her residency training, she completed a fellowship in dermatopathology at Memorial Sloan Kettering Cancer Center and Weill Cornell Medical College.
Education
Medical Education: University of Helsinki, Helsinki, Finland, M.D., Ph.D.
Internships: New York Presbyterian Hospital – Weill Cornell Medical Center, General Surgery
Residency: New York Presbyterian Hospital – Weill Cornell Medical Center, Dermatology
Fellowships: Memorial Sloan Kettering Cancer Center and Weill Cornell Medical College, Dermatopathology
Board Certifications: Dermatology and Dermatopathology
Selected Research Publications
See a complete list of publications »
Love NR, Williams C, Killingbeck EE, Merleev A, Saffari Doost M, Yu L, McPherson JD, Mori H, Borowsky AD, Maverakis E, Kiuru M. Melanoma progression and prognostic models drawn from single-cell, spatial maps of benign and malignant tumors. Sci Adv. 2024 Jul 12;10(28):eadm8206. doi: 10.1126/sciadv.adm8206. Epub 2024 Jul 12. PubMed PMID: 38996022; PubMed Central PMCID: PMC11244543.
Kiuru M, Kriner MA, Wong S, Zhu G, Terrell JR, Li Q, Hoang M, Beechem J, McPherson JD. High-Plex Spatial RNA Profiling Reveals Cell Type‒Specific Biomarker Expression during Melanoma Development. J Invest Dermatol. 2022 May;142(5):1401-1412.e20. doi: 10.1016/j.jid.2021.06.041. Epub 2021 Oct 23. PubMed PMID: 34699906; PubMed Central PMCID: PMC9714472.
Ellis SR, Vierra AT, Millsop JW, Lacouture ME, Kiuru M. Dermatologic toxicities to immune checkpoint inhibitor therapy: A review of histopathologic features. J Am Acad Dermatol. 2020 Oct;83(4):1130-1143. doi: 10.1016/j.jaad.2020.04.105. Epub 2020 Apr 29.
Toussi A, Mans N, Welborn J, Kiuru M. Germline mutations predisposing to melanoma. J Cutan Pathol. 2020 Jul;47(7):606-616. doi: 10.1111/cup.13689.
Toussi A, Barton VR, Le ST, Agbai ON, Kiuru M. Psychosocial and psychiatric comorbidities and health-related quality of life in alopecia areata: A systematic review. J Am Acad Dermatol. 2021 Jul;85(1):162-175. doi: 10.1016/j.jaad.2020.06.047. Epub 2020 Jun 17. PubMed PMID: 32561373; PubMed Central PMCID: PMC8260215.
Kiuru M, Busam KJ. The NF1 gene in tumor syndromes and melanoma. Lab Invest. 2017 2017 Feb;97(2):146-157. Kiuru M, Jungbluth A, Kutzner H, Wiesner T, Busam KJ. Spitz Tumors - Comparison of Histologic Features In Relationship to Immunohistochemical Staining for ALK and NTRK1. Int J Surg Pathol. 2016 May;24(3):200-6.
Wiesner T, Kiuru M, Scott SN, Arcila M, Halpern AC, Hollmann T, Berger MF, Busam KJ. NF1 Mutations Are Common in Desmoplastic Melanoma. Am J Surg Pathol. 2015 Oct;39(10):1357-62.
Kiuru M, Kurban M, Itoh M, Petukhova L, Shimomura Y, Wajid M, Christiano AM. Hereditary leukonychia, or porcelain nails, resulting from mutations in PLCD1. Am J Hum Genet. 2011 Jun 10;88(6):839-44.
Itoh M,Kiuru M, Cairo MS, Christiano AM. Generation of keratinocytes from normal and recessive dystrophic epidermolysis bullosa-induced pluripotent stem cells. Proc Natl Acad Sci U S A. 2011 May 24;108(21):8797-802.
Eng C, Kiuru M, Fernandez MJ, Aaltonen LA. A role for mitochondrial enzymes in inherited neoplasia and beyond. Nat Rev Cancer. 2003 Mar; 3(3): 193-202.
The Multiple Leiomyoma Consortium: Group 1: Tomlinson IP, et al., Group 2: Bevan S, et al., Group 3: Kiuru M, et al. Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat Genet. 2002, Apr; 30(4):406-410.
Kiuru M, Launonen V, Hietala M, Aittomaki K, Vierimaa O, Salovaara R, Arola J, Pukkala E, Sistonen P, Herva R, Aaltonen LA. Familial cutaneous leiomyomatosis is a two-hit condition associated with renal cell cancer of characteristic histopathology. Am J Pathol. 2001, Sep; 159(3):825-829.
Launonen V, Vierimaa O,Kiuru M, Isola J, Roth S, Pukkala E, Sistonen P, Herva R, Aaltonen LA. Inherited susceptibility to uterine leiomyomas and renal cell cancer. Proc Natl Acad Sci U S A. 2001, Mar; 98(6):3387-3392.