Janos Sumegi, MD, PhD

Professor, UC Department of Pediatrics

Phone 513-636-5976

Fax 513-636-3549

Email janos.sumegi@cchmc.org

Lymphoproliferative disease; hemophagocytic lymphohistiocytosis; usher syndrome

MD: University Medical School of Debrecen, Hungary, 1968.

PhD: Research Center of the Hungarian Academy of Science, Budapest, Hungary, 1974.

Docent (DMSc): Karolinska Institute Stockhom, Sweden, 1982.

Sumegi J, Barnes MG, Nestheide SV, Molleran-Lee S, Villanueva J, Zhang K, Risma KA, Grom AA, Filipovich AH. Gene expression profiling of peripheral blood mononuclear cells from children with active hemophagocytic lymphohistiocytosis. Blood. 2011 Apr 14;117(15):e151-60.

Sumegi J, Nishio J, Nelson M, Frayer RW, Perry D, Bridge JA. A novel t(4;22)(q31;q12) produces an EWSR1-SMARCA5 fusion in extraskeletal Ewing sarcoma/primitive neuroectodermal tumor. Mod Pathol. 2011 Mar;24(3):333-42.

Huang D, Sumegi J, Dal Cin P, Reith JD, Yasuda T, Nelson M, Muirhead D, Bridge JA. C11orf95-MKL2 is the resulting fusion oncogene of t(11;16)(q13;p13) in chondroid lipoma. Genes Chromosomes Cancer. 2010 Sep;49(9):810-8.

Sumegi J, Streblow R, Frayer RW, Dal Cin P, Rosenberg A, Meloni-Ehrig A, Bridge JA. Recurrent t(2;2) and t(2;8) translocations in rhabdomyosarcoma without the canonical PAX-FOXO1 fuse PAX3 to members of the nuclear receptor transcriptional coactivator family. Genes Chromosomes Cancer. 2010 Mar;49(3):224-36.

Sumegi J, Johnson J, Filipovich A, Zhang K, Marsh R. Lymphoproliferative Disease, X-Linked. In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993- 2004 Feb 27 [updated 2009 Jun 18].

Trizzino A, zur Stadt U, Ueda I, Risma K, Janka G, Ishii E, Beutel K, Sumegi J, Cannella S, Pende D, Mian A, Henter JI, Griffiths G, Santoro A, Filipovich A, Aricò M; Histiocyte Society HLH Study group. Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations. J Med Genet. 2008 Jan;45(1):15-21.

Erdos M, Alapi K, Balogh I, Oroszlán G, Rákóczi E, Sümegi J, Maródi L. Severe Shwachman-Diamond syndrome phenotype caused by compound heterozygous missense mutations in the SBDS gene. Exp Hematol. 2006 Nov;34(11):1517-21.

Lee SM, Sumegi J, Villanueva J, Tabata Y, Zhang K, Chakraborty R, Sheng X, Clementi R, de Saint Basile G, Filipovich AH. Patients of African ancestry with hemophagocytic lymphohistiocytosis share a common haplotype of PRF1 with a 50delT mutation. J Pediatr. 2006 Jul;149(1):134-7.

Risma KA, Frayer RW, Filipovich AH, Sumegi J. Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lymphohistiocytosis. J Clin Invest. 2006 Jan;116(1):182-92.

Tabata Y, Villanueva J, Lee SM, Zhang K, Kanegane H, Miyawaki T, Sumegi J, Filipovich AH. Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members. Blood. 2005 Apr 15;105(8):3066-71.

Gene-Expression Profiling of Peripheral Blood Mononuclear Cells in Hemophagocytic Lymphohistiocytosis. Histiocytosis Association of America. Dec 2010 - Nov 2011.