“Molecular characterization of human tumors to identify markers of response to targeted therapeutics…”

Dora Dias-Santagata, PhD, FACMG

Assistant Professor of Pathology, Harvard Medical School
Assistant Molecular Pathologist and Co-Director, Translational Research Laboratory, Massachusetts General Hospital

Center for Integrated Diagnostics
Molecular Pathology Unit
Massachusetts General Hospital
55 Fruit Street (GRJ-10)
Boston, MA 02114
Phone: 617-724-1261
Email: ddiassantagata@mgh.harvard.edu

Targeted cancer therapies require the rapid and accurate identification of genetic abnormalities predictive of therapeutic response. Our lab developed the first high-throughput clinical genotyping platform designed to detect specific mutations in a broad range of human malignancies and enable prospective patient selection to the most appropriate targeted treatments. To obtain a more complete tumor genetic fingerprint and expand the scope of therapeutic options available to each patient, we improved upon our original platform by the development of next generation sequencing technologies. Our clinical molecular panels identify somatic mutations, genetic rearrangements and copy number alterations in a wide range of solid tumors and hematopoietic malignancies.

Our research efforts have focused on the molecular characterization of rare tumor types and   led to the identification of clinically relevant genetic alterations in Merkel cell carcinoma, pleomorphic xanthoastrocytoma and salivary duct carcinoma. We have developed research collaborations with the MGH Thoracic Oncology, the Endocrine Unit and the Gastrointestinal Cancer teams, to uncover novel genetic drivers of malignancy, monitor disease progression, and identify mechanism of acquired resistance to therapy.

Selected Publications

Bibliography of Dora Dias-Santagata via PubMed

Dias-Santagata D, Selim MA, Su Y, Peng Y, Vollmer R, Chłopik A, Tell-Marti G, Paral KM, Shalin SC, Shea CR, Puig S, Fernandez-Figueras MT, Biernat W, Ryś J, Marszalek A, Hoang MP. KIT mutations and CD117 overexpression are markers of better progression-free survival in vulvar melanomas. Br J Der- matol. 2017;177(5):1376-1384.

Identification of oncogenic mutations and gene fusions in the follicular variant of papillary thyroid carcinoma. McFadden DG, Dias-Santagata D, Sadow PM, Lynch KD, Lubitz C, Donovan SE, Zheng Z, Le L, Iafrate AJ, Daniels GH. J Clin Endocrinol Metab. 2014 Nov;99(11):E2457-62.

Detection of novel actionable genetic changes in salivary duct carcinoma helps direct patient treatment. Nardi V, Sadow PM, Juric D, Zhao D, Cosper AK, Bergethon K, Scialabba VL, Batten JM, Borger DR, Iafrate AJ, Heist RS, Lawrence DP, Flaherty KT, Bendell JC, Deschler D, Li Y, Wirth LJ, Dias-Santagata D. Clin Cancer Res. 2013 Jan 15;19(2):480-90.

Activation of PI3K signaling in Merkel cell carcinoma. Nardi V, Song Y, Santamaria-Barria JA, Cosper AK, Lam Q, Faber AC, Boland GM, Yeap BY, Bergethon K, Scialabba VL, Tsao H, Settleman J, Ryan DP, Borger DR, Bhan AK, Hoang MP, Iafrate AJ, Cusack JC, Engelman JA, Dias-Santagata D. Clin Cancer Res. 2012 Mar 1;18(5):1227-36.

Rapid targeted mutational analysis of human tumours: a clinical platform to guide personalized cancer medicine. Dias-Santagata D, Akhavanfard S, David SS, Vernovsky K, Kuhlmann G, Boisvert SL, Stubbs H, McDermott U, Settleman J, Kwak EL, Clark JW, Isakoff SJ, Sequist LV, Engelman JA, Lynch TJ, Haber DA, Louis DN, Ellisen LW, Borger DR, Iafrate AJ. EMBO Mol Med. 2010 May;2(5):146-58.

 

 

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