Jorge R. Toro, M.D. Tenure Track Investigator Location: Executive Plaza South, Room 7012 Phone: 301-496-4375 Fax: 301-402-4489 E-mail: torojo@exchange.nih.gov Biography Research Selected Publications (citations) All Publications(texts and abstracts from our publications database)

Biography

Dr. Toro received an M.D. with honors from the State University of New York School of Medicine at Buffalo, and completed his internship in internal medicine at Stanford University. He trained in Dermatology at University of California San Francisco and Southern Illinois University School of Medicine. Dr. Toro joined the Dermatology Branch of NCI during the third year of his residency, and became a Tenure track investigator in the Genetic Epidemiology Branch in 2001. His research focuses on the role of genetic basis of genodermatoses with an increased risk of internal neoplasia and skin cancer.

Research

Genodermatosis Studies

General Goals: We are focusing on the clinical, epidemiologic, genetic, and laboratory investigations of individuals affected with genodermatosis and skin cancer to elucidate the mechanisms that contribute to benign and malignant diseases. We recruit and examine individuals and collect samples obtained from affected individuals and their relatives for cytogenetic, haplotype, sequencing and other molecular methods. The genomic localization of single and complex gene traits that predispose to genodermatosis and skin cancer is determined using various analytic and statistical genetic methods.

-Genodermatosis- To describe and characterize new inherited skin disorders associated with internal neoplasia. To use skin diseases as markers to map and identify novel cancer associated susceptibility genes.

-Cutaneous Lymphomas- To understand the biology and pathogenesis of primary cutaneous lymphomas by defining and characterizing new clinicopathological entities based on clinical, microscopic, immunophenotypic and molecular methods. We have been interested in unique types of T-cell lymphomas such as cutaneous gamma delta T-cell lymphoma.

-Hermansky-Pudlak syndrome (HPS)- To characterize disorders of pigment dilution and to identify new HPS genes that will allow us to understand the vesicular trafficking of melanosome, platelets and lysosomes.

Keywords:
Skin cancer, cutaneous lymphoma, Birt-Hogg-Dube, hereditary leiomyomatosis and renal cancer (HLRCC), albinism, LOH, DNA repair, family studies

Selected Publications

• Anikster Y, Huizing M, White J, Shevcehnko YO, Fitzpatrick, Touchman JW, Compton JG, Bale SJ, Swank RT, Gahl WA, Toro JR. Mutation of a novel gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. Nature Genetics 2001;28:376-380.
• Schmidt LS, Warren MB, Nickerson ML, Weirich G, Matrosova V, Toro JR, Turner ML, Duray P, Merino M, Hewitt S, Pavlovitch CP, Glenn G, Greenberg CR, Linehan WM, Zbar B. Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2. Am J Hum Genet 2001;69:876-882.
• Toro JR, I Aksentijevich, J Dean, DL Kastner. Tumor necrosis factor receptor associated periodic fever syndromes: A novel entity with cutaneous manifestations. Arch Dermatol. 2000;136:1487-94.
• Toro JR, Beaty M, Sorbara L, Raffeld M, Jaffe E. Cutaneous gamma-delta T-cell lymphoma. Arch Dermatol. 2000;136:1024-1031.
• Toro JR, Duray P, Linehan M, Turner M. Birt-Hogg-Dube syndrome: A novel marker of kidney neoplasia. Arch Dermatol. 1999;135: 1195-1202.
• Beaty MW, Toro JR, Sorbara L, Stern JB, Pittaluga S Raffeld M, Wilson WH, Jaffe ES. Cutaneous lymphomatoid granulomatosis: correlation of clinical and biologic features. Am J Surg Pathol 2001;25:1111-1120.
• Huizing M, Anikster Y, Fitzpatrick DL, Jeong AB, D'Souza M, Rausche M, Toro JR, Kaiser-Kupfer MI, White JG, Gahl WA,. Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency. Am J Hum Genet 2001;69:1022-1032.
• Toro JR, Shevchenko YO, Compton JG, Bale SJ. Exclusion of PTEN, CTNNB1 and PTCH as candidate genes for Birt-Hogg-Dube Syndrome. J Med Genet 2002;39:1-5
• Zbar B, Alvord WG, Glenn G, Turner M, Pavlovich CP, Schmidt L, Walther M, Choyke P, Weirich G, Hewitt SM, Duray P, Gabril F, Greenberg C, Merino MJ, Toro J, Linehan WM. Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt- Hogg-Dube Syndrome. Cancer Epidemiol Biomark Prev 2002;11:393-400.
• Nickerson M, Warren M, Toro J, Matrosova V, Glenn G, Turner M, Duray P, Merino M, Choyke P, Pavlovich C, Sharma N, Walther M, Maher E, Greenberg C, Lerman M, Linehan WM, Zbar B, Schmidt L. Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome. Cancer cell 2002;2:157-164.
• Toro JR, Liewehr D, Pabby N, Sorbara L, Raffeld M, Steinberg SM, Jaffe ES. Gamma delta T-cell phenotype is associated with significantly decreased survival in cutaneousT-cell lymphoma. Blood 2003;101:1-6.
• Toro JR, Nickerson ML, Wei MH, Warren MB, Glenn GM, Turner ML, Stewart L, Duray P, Tourre O, Sharma N, Choyke P, Stratton P, Merino M, Walther MM, Linehan WM, Schmidt LS, Zbar B. Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. Am J Hum Genet 2003;73:95-106.