Bio

Clinical Focus


  • Pediatrics
  • Pediatric Hospital Medicine

Academic Appointments


Honors & Awards


  • Rotation of the Year Award for Inpatient General Pediatrics, Stanford University School of Medicine, Department of Pediatrics (2013)
  • Recognition of Service Excellence (R.O.S.E) Award, Lucile Packard Children's Hospital (2012)
  • Faculty Honor Roll with Letter of Distinction for Teaching, Stanford University School of Medicine (2011-2012)
  • Alpha Omega Alpha, Albert Einstein College of Medicine (2001)
  • American Medical Women's Association Janet M. Glasgow Memorial Achievement Citation, Albert Einstein College of Medicine (2001)
  • Edward Weinstein Award for Outstanding Scholarship and Human Commitment, Albert Einstein College of Medicine (2001)

Boards, Advisory Committees, Professional Organizations


  • Faculty, Educators-4-CARE (Compassion, Advocacy, Responsibility, Empathy), Stanford University School of Medicine (2013 - Present)
  • Faculty Coach, Pediatrics Residency Coaching Program, Stanford University School of Medicine, Department of Pediatrics (2013 - Present)
  • Co-Lead, Family Centered Rounds Operations Subcommittee, Lucile Packard Children's Hospital (2012 - Present)
  • Member, Acute Care Excellence Committee, Lucile Packard Children's Hospital (2012 - Present)
  • Faculty Small Group Leader, Pediatrics Residency Humanism and Professionalism Course, Stanford University School of Medicine, Department of Pediatrics (2011 - Present)
  • Co-Director, Inpatient General Pediatrics Resident Rotation, Stanford University School of Medicine, Department of Pediatrics (2010 - Present)
  • Faculty Advisor, Pediatrics Residency, Stanford University School of Medicine, Department of Pediatrics (2010 - Present)
  • Teaching Attending, Stanford Medical Students, Stanford University School of Medicine (2010 - 2012)
  • Member, Pediatric Code Committee, Lucile Packard Children's Hospital (2009 - Present)
  • Member, Professional Practice Evaluation Committee, Lucile Packard Children's Hospital (2009 - Present)

Professional Education


  • Fellowship:Univ of California San Francisco (06/2009) CA
  • Residency:Univ of California San Francisco (06/2004) CA
  • Board Certification: Pediatrics, American Board of Pediatrics (2004)
  • Board Certification: Pediatric Hematology-Oncology, American Board of Pediatrics (2009)
  • Medical Education:Albert Einstein College of Medicine (06/2001) NY

Publications

Journal Articles


  • Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia NATURE GENETICS Niemeyer, C. M., Kang, M. W., Shin, D. H., Furlan, I., Erlacher, M., Bunin, N. J., Bunda, S., Finklestein, J. Z., Sakamoto, K. M., Gorr, T. A., Mehta, P., Schmid, I., Kropshofer, G., Corbacioglu, S., Lang, P. J., Klein, C., Schlegel, P., Heinzmann, A., Schneider, M., Stary, J., van den Heuvel-Eibrink, M. M., Hasle, H., Locatelli, F., Sakai, D., Archambeault, S., Chen, L., Russell, R. C., Sybingco, S. S., Ohh, M., Braun, B. S., Flotho, C., Loh, M. L. 2010; 42 (9): 794-U93

    Abstract

    CBL encodes a member of the Cbl family of proteins, which functions as an E3 ubiquitin ligase. We describe a dominant developmental disorder resulting from germline missense CBL mutations, which is characterized by impaired growth, developmental delay, cryptorchidism and a predisposition to juvenile myelomonocytic leukemia (JMML). Some individuals experienced spontaneous regression of their JMML but developed vasculitis later in life. Importantly, JMML specimens from affected children show loss of the normal CBL allele through acquired isodisomy. Consistent with these genetic data, the common p.371Y>H altered Cbl protein induces cytokine-independent growth and constitutive phosphorylation of ERK, AKT and S6 only in hematopoietic cells in which normal Cbl expression is reduced by RNA interference. We conclude that germline CBL mutations have developmental, tumorigenic and functional consequences that resemble disorders that are caused by hyperactive Ras/Raf/MEK/ERK signaling and include neurofibromatosis type 1, Noonan syndrome, Costello syndrome, cardiofaciocutaneous syndrome and Legius syndrome.

    View details for DOI 10.1038/ng.641

    View details for Web of Science ID 000281388400018

    View details for PubMedID 20694012

  • Mutations in CBL occur frequently in juvenile myelomonocytic leukemia BLOOD Loh, M. L., Sakai, D. S., Flotho, C., Kang, M., Fliegauf, M., Archambeault, S., Mullighan, C. G., Chen, L., Bergstraesser, E., Bueso-Ramos, C. E., Emanuel, P. D., Hasle, H., Issa, J., van den Heuvel-Eibrink, M. M., Locatelli, F., Stary, J., Trebo, M., Wlodarski, M., Zecca, M., Shannon, K. M., Niemeyer, C. M. 2009; 114 (9): 1859-1863

    Abstract

    Juvenile myelomonocytic leukemia is an aggressive myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Seventy-five percent of patients harbor mutations in the NF1, NRAS, KRAS, or PTPN11 genes, which encode components of Ras signaling networks. Using single nucleotide polymorphism arrays, we identified a region of 11q isodisomy that contains the CBL gene in several JMML samples, and subsequently identified CBL mutations in 27 of 159 JMML samples. Thirteen of these mutations alter codon Y371. In this report, we also demonstrate that CBL and RAS/PTPN11 mutations were mutually exclusive in these patients. Moreover, the exclusivity of CBL mutations with respect to other Ras pathway-associated mutations indicates that CBL may have a role in deregulating this key pathway in JMML.

    View details for DOI 10.1182/blood-2009-01-198416

    View details for Web of Science ID 000269380600022

    View details for PubMedID 19571318

  • Single-cell profiling identifies aberrant STAT5 activation in myeloid malignancies with specific clinical and biologic correlates CANCER CELL Kotecha, N., Floress, N. J., Irish, J. M., Simonds, E. F., Sakai, D. S., Archambeault, S., Diaz-Flores, E., Coram, M., Shannon, K. M., Nolan, G. P., Loh, M. L. 2008; 14 (4): 335-343

    Abstract

    Progress in understanding the molecular pathogenesis of human myeloproliferative disorders (MPDs) has led to guidelines incorporating genetic assays with histopathology during diagnosis. Advances in flow cytometry have made it possible to simultaneously measure cell type and signaling abnormalities arising as a consequence of genetic pathologies. Using flow cytometry, we observed a specific evoked STAT5 signaling signature in a subset of samples from patients suspected of having juvenile myelomonocytic leukemia (JMML), an aggressive MPD with a challenging clinical presentation during active disease. This signature was a specific feature involving JAK-STAT signaling, suggesting a critical role of this pathway in the biological mechanism of this disorder and indicating potential targets for future therapies.

    View details for DOI 10.1016/j.ccr.2008.08.014

    View details for Web of Science ID 000259896500008

    View details for PubMedID 18835035

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