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Research at Mass General
AffiliationsAnat Stemmer-Rachamimov, MD
Associate Professor of Pathology, Harvard Medical School
Associate Neuropathologist, Massachusetts General Hospital
Molecular Pathology Unit
Massachusetts General Hospital
149 13th Street, 6th Floor
Charlestown, MA 02129
Our lab’s research focuses on identifying the underlying molecular changes in lesions and malformations associated with hereditary brain tumor syndromes (neurofibromatosis 1, neurofibromatosis 2, schwannomatosis and tuberous sclerosis, von Hipple Lindau), and the identification of activated pathways or events that lead to tumor progression. Although hereditary brain tumor syndromes are relatively uncommon, the same molecular events and pathways are often involved in tumorigenesis and progression of similar sporadic tumors that are much more frequent in the general population.
For example, Schwannomas are benign nerve sheath tumors that may arise in people with no underlying genetic syndrome (solitary, sporadic schwannomas) or in the context of two hereditary tumor syndromes: neurofibromatosis 2 and schwannomatosis. Although all schwannomas share the loss of function of the NF2 gene, our hypothesis is that additional microenvironmental factors or epigenetic events are responsible for the clinical manifestations associated with these tumors, such as pain, hearing loss or rapid tumor growth. The identification of these events and of the pathways involved may aid in the diagnosis of the different subclinical types of schwannomas as well as in the development of targeted therapies. Our recent work in collaboration with researchers and clinicians in MGH has unraveled molecular pathways of angiogenesis in schwannomas, leading to targeted antiangiogenesis therapy with clinical improvement in a small series of patients with NF2-associated schwannomas.
Finally, in collaboration with multiple groups, we perform extensive pathological analyses of new mouse models of neurofibromatoses and new diagnostic and therapeutic modalities.
James Kim, Lab ManagerFrances Chaves, Research Technician IIAnna Levitz, Research Technician IMaia Livneh, Research Technician I
Bibliography of Anat Stemmer-Rachamimov via PubMed
Gao X, Zhao Y, Stemmer-Rachamimov AO, Liu H, Huang P, Chin S, Selig MK, Plotkin SR, Jain RK, Xu L. Anti-VEGF treatment improves neurological function and augments radiation response in NF2 schwannoma model. Proc Natl Acad Sci U S A. 2015; 112(47):14676-81.
Stivaros SM, Stemmer-Rachamimov AO, Alston R, Plotkin SR, Nadol JB, Quesnel A, O'Malley J, Whitfield GA, McCabe MG, Freeman SR, Lloyd SK, Wright NB, Kilday JP, Kamaly-Asl ID, Mills SJ, Rutherford SA, King AT, Evans DG. Multiple synchronous sites of origin of vestibular schwannomas in neurofibromatosis Type 2. J Med Genet. 2015; 52(8):557-62.
Mayes DA, Rizvi TA, Titus-Mitchell H, Oberst R, Ciraolo GM, Vorhees CV, Robinson AP, Miller SD, Cancelas JA, Stemmer-Rachamimov AO, Ratner N. Nf1 loss and Ras hyperactivation in oligodendrocytes induce NOS-driven defects in myelin and vasculature. Cell Rep. 2013; 4(6):1197-212.
Brastianos PK, Horowitz PM, Santagata S, Jones RT, McKenna A, Getz G, Ligon KL, Palescandolo E, Van Hummelen P, Ducar MD, Raza A, Sunkavalli A, Macconaill LE, Stemmer-Rachamimov AO, Louis DN, Hahn WC, Dunn IF, Beroukhim R. Genomic sequencing of meningiomas identifies oncogenic SMO and AKT1 mutations. Nat Genet. 2013; 45(3):285-9.
Kalamarides M, Stemmer-Rachamimov AO, Niwa-Kawakita M, Chareyre F, Taranchon E, Han ZY, Martinelli C, Lusis EA, Hegedus B, Gutmann DH, Giovannini M. Identification of a progenitor cell of origin capable of generating diverse meningioma histological subtypes. Oncogene. 2011; 30(20):2333-44.
Plotkin SR, Stemmer-Rachamimov AO, Barker FG 2nd, Halpin C, Padera TP, Tyrrell A, Sorensen AG, Jain RK, di Tomaso E. Hearing improvement after bevacizumab in patients with neurofibromatosis type 2. N Engl J Med. 2009; 23;361(4):358-67.
Stankovic KM, Mrugala MM, Martuza RL, Silver M, Betensky RA, Nadol JB Jr, Stemmer-Rachamimov AO. Genetic determinants of hearing loss associated with vestibular schwannomas. Otol Neurotol. 2009; 30(5):661-7.
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