Publications

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Selected publications

Selected publications:

  1. Nousiainen S, Kuismin O, Reinikka S, Manninen R, Khamaiseh S, Kuivalainen M, Terho A, Koivurova S, Niinimaki M, Salokas K, Varjosalo M, Ahtikoski A, Butzow R, Lindgren O, Uimari O. & Vahteristo P. Whole-exome sequencing reveals candidate high-risk susceptibility genes for endometriosis. Human Genomics 17(1):10, 2023.
  2. Jokinen V, Mehine M, Reinikka S, Khamaiseh S, Ahvenainen T, Äyräväinen A, Härkki P, Butzow R, Pasanen A. & Vahteristo P. 3 ' RNA and whole-genome sequencing of archival uterine leiomyomas reveal a tumor subtype with chromosomal rearrangements affecting either HMGA2, HMGA1, or PLAG1. Genes, Chromosomes and Cancer, 62(1):27-38, 2023.
  3. Mehine M, Ahvenainen T, Khamaiseh S, Härkönen J, Reinikka S, Heikkinen T, Äyräväinen A, Pakarinen P, Härkki P, Pasanen A, Levonen A-L, Bützow R. & Vahteristo P. A novel uterine leiomyoma subtype exhibits NRF2 activation and mutations in genes associated with neddylation of the Cullin 3-RING E3 ligase. Oncogenesis 11(1):10, 2022.
  4. Ahvenainen T, Khamaiseh S, Alkodsi A, Mehine M, Nevala R, Äyräväinen A, Bützow R. & Vahteristo P. Lung metastases and subsequent malignant transformation of a fumarate hydratase-deficient uterine leiomyoma. Experimental and Molecular Pathology, 126:6, 2022. 
  5. Ahvenainen T, Kaukomaa J, Kämpjärvi K, Uimari O, Ahtikoski A, Mäkinen N, Heikinheimo O, Aaltonen LA, Karhu A, Bützow R & Vahteristo, P. Comparison of 2SC, AKR1B10, and FH Antibodies as Potential Biomarkers for FH-deficient Uterine Leiomyomas. American Journal of Surgical Pathology, 46(4): 537-546, 2022.
  6. Similä-Maarala J, Soovares P, Pasanen A, Ahvenainen T, Vahteristo P, Bützow R. & Lassus H. TCGA molecular classification in endometriosis-associated ovarian carcinomas: Novel data on clear cell carcinoma. Gynecologic oncology, 165(3):577-584, 2022.
  7. Mehine M, Khamaiseh S, Ahvenainen T, Heikkinen T, Äyräväinen A, Pakarinen P, Härkki P, Pasanen A, Bützow R, Vahteristo P. 3'RNA Sequencing Accurately Classifies Formalin-Fixed Paraffin-Embedded Uterine Leiomyomas. Cancers 12(12):3839, 2020.
  8. Äyräväinen A,  Pasanen A,  Ahvenainen T,  Heikkinen T,  Pakarinen P,  Härkki P, Vahteristo P. Systematic molecular and clinical analysis of uterine leiomyomas from fertile-aged women undergoing myomectomy. Hum Reprod  35(10):2237-2244, 2020.
  9. Heikkinen T, Äyräväinen A, Hänninen J, Ahvenainen T, Bützow R, Pasanen A, Vahteristo P. MED12 mutations and fumarase hydratase inactivation in uterine adenomyomas. Hum Reprod Open 1:1-8, 2018.
  10. Ahvenainen T, Mäkinen N, von Nandelstadh P, Vahteristo M, Pasanen A, Bützow R, Vahteristo P. Loss of ATRX/DAXX expression and alternative lengthening of telomeres in uterine leiomyomas. Cancer 124: 4650-6, 2018.
  11. Mäkinen N, Kämpjärvi K, Frizzell N, Bützow R, Vahteristo P. Characterization of MED12, HMGA2, and FH alterations reveals molecular variability in uterine smooth muscle tumors. Mol Cancer 16:101, 2017.
  12. Heikkinen T, Kämpjärvi K, Keskitalo S, von Nandelstadh P, Liu X, Rantanen V, Pitkänen E, Kinnunen M, Kuusanmäki H, Kontro M, Turunen M, Mäkinen N, Taipale J, Heckman C, Lehti K, Mustjoki S, Varjosalo M, Vahteristo P. Somatic MED12 nonsense mutation escapes mRNA decay and reveals a motif required for nuclear entry. Hum Mut 38:269-274, 2017.
  13. Kämpjärvi K, Mäkinen N, Mehine M, Välipakka S, Uimari O, Pitkänen E, Heinonen HR, Heikkinen T, Tolvanen J, Ahtikoski A, Frizzell N, Sarvilinna N, Sjöberg J, Bützow R, Aaltonen LA, Vahteristo P. MED12 mutations and FH inactivation are mutually exclusive in uterine leiomyomas. Br J Cancer 114:1405-1411, 2016.
  14. Mäkinen N, Aavikko M, Heikkinen T, Taipale M, Taipale J, Koivisto-Korander R, Bützow R, Vahteristo P. Exome sequencing of uterine leiomyosarcomas identifies frequent mutations in TP53, ATRX, and MED12. PLoS Genet 12:e1005850, 2016.
  15. Kämpjärvi K, Kim NH, Keskitalo S, Clark AD, von Nandelstadh P, Turunen M, Heikkinen T, Park MJ, Mäkinen N, Kivinummi K, Lintula S, Hotakainen K, Nevanlinna H, Hokland P, Böhling T, Bützow R, Böhm J, Mecklin JP, Järvinen H, Kontro M, Visakorpi T, Taipale J, Varjosalo M, Boyer TG, Vahteristo P.  Somatic MED12 mutations in prostate cancer and uterine leiomyomas promote tumorigenesis through distinct mechanisms. Prostate 76:22-31, 2016.
  16. Kämpjärvi K, Järvinen TM, Heikkinen T, Ruppert AS, Senter L, Hoag KW, Dufva O, Kontro M, Rassenti L, Hertlein E, Kipps TJ, Porkka K, Byrd JC, de la Chapelle A, Vahteristo P. Somatic MED12 mutations are associated with poor prognosis markers in chronic lymphocytic leukemia. Oncotarget 6:1884-1888, 2015.  
  17. Kämpjärvi K, Park MJ, Mehine M, Kim NH, Clark AD, Bützow R, Böhling T, Böhm J, Mecklin JP, Järvinen H, Tomlinson IPM, van der Spuy ZM, Sjöberg J, Boyer  TG, Vahteristo P. Mutations in exon 1 highlight the role of MED12 in uterine leiomyomas. Hum Mut 35:1136-1141, 2014.
  18. Mehine M, Mäkinen N, Heinonen HR, Aaltonen LA, Vahteristo P. Genomics of uterine leiomyomas: insights from high-throughput sequencing. Fertil Steril 102:621-629, 2014. Review.
  19. Mehine M, Kaasinen E, Mäkinen N, Katainen R, Kämpjärvi K, Pitkänen, E, Heinonen HR, Bützow R, Kilpivaara O, Kuosmanen A, Ristolainen H, Gentile M, Sjöberg J, Vahteristo P, Aaltonen LA. Characterization of uterine leiomyomas by whole-genome sequencing. N Engl J Med 369:43-53, 2013.
  20. Kämpjärvi K, Mäkinen N, Kilpivaara O, Arola J, Heinonen HR, Böhm J, Abdel-Wahab O, Lehtonen HJ, Pelttari LM, Mehine M, Schrewe H, Nevanlinna H, Levine RL, Hokland P, Böhling T, Mecklin JP, Bützow R, Aaltonen LA, Vahteristo P. Somatic MED12 mutations in uterine leiomyosarcoma and colorectal cancer. Br J Cancer 107:1761-1765, 2012.
  21. Aavikko M, Li SP, Saarinen S, Alhopuro P, Kaasinen E, Morgunova E, Li Y, Vesanen K, Smith MJ, Evans GR, Pöyhönen M, Kiuru A, Auvinen A, Aaltonen L, Taipale J, Vahteristo P. Loss of SUFU function in familial multiple meningioma. Am J Hum Genet 91:520-526, 2012.
  22. Mäkinen N, Mehine M, Tolvanen J, Kaasinen E, Li Y, Lehtonen HJ, Gentile M, Yan J, Enge M, Taipale M, Aavikko M, Katainen R, Virolainen E, Böhling T, Koski T, Launonen V, Sjöberg J, Taipale J, Vahteristo P, Aaltonen LA. MED12, the mediator complex subunit12 gene, is mutated at high frequency in uterine leiomyomas. Science 334:252-255, 2011.

 
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