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10 results on '"Pinson, Stephane"'

1. Primary hyperparathyroidism as first manifestation in multiple endocrine neoplasia type 2A: an international multicenter study

Author

Larsen, Louise Vølund, primary, Mirebeau-Prunier, Delphine, additional, Imai, Tsuneo, additional, Alvarez-Escola, Cristina, additional, Hasse-Lazar, Kornelia, additional, Censi, Simona, additional, Castroneves, Luciana A, additional, Sakurai, Akihiro, additional, Kihara, Minoru, additional, Horiuchi, Kiyomi, additional, Barbu, Véronique Dorine, additional, Borson-Chazot, Francoise, additional, Gimenez-Roqueplo, Anne-Paule, additional, Pigny, Pascal, additional, Pinson, Stephane, additional, Wohllk, Nelson, additional, Eng, Charis, additional, Aydogan, Berna Imge, additional, Saranath, Dhananjaya, additional, Dvorakova, Sarka, additional, Castinetti, Frederic, additional, Patocs, Attila, additional, Bergant, Damijan, additional, Links, Thera P, additional, Peczkowska, Mariola, additional, Hoff, Ana O, additional, Mian, Caterina, additional, Dwight, Trisha, additional, Jarzab, Barbara, additional, Neumann, Hartmut P H, additional, Robledo, Mercedes, additional, Uchino, Shinya, additional, Barlier, Anne, additional, Godballe, Christian, additional, and Mathiesen, Jes Sloth, additional

Published
2020
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2. Primary hyperparathyroidism as first manifestation in MEN 2A: an international multicenter study

Author

Larsen, Louise Vølund, Mirebeau-Prunier, Delphine, Imai, Tsuneo, Alvarez-Escola, Cristina, Hasse-Lazar, Kornelia, Censi, Simona, Castroneves, Luciana A, Sakurai, Akihiro, Kihara, Minoru, Horiuchi, Kiyomi, Barbu, Véronique Dorine, Borson-Chazot, Françoise, Gimenez-Roqueplo, Anne-Paule, Pigny, Pascal, Pinson, Stephane, Wohllk, Nelson, Eng, Charis, Aydoğan, Berna İmge, Saranath, Dhananjaya, Dvorakova, Sarka, Castinetti, Frederic, Attila, Patocs, Bergant, Damijan, Links, Thera P, Peczkowska, Mariola, Hoff, Ana O, Mian, Caterina, Dwight, Trisha, Jarzab, Barbara, Neumann, Hartmut P H, Robledo, Mercedes, Uchino, Shinya, Barlier, Anne, Godballe, Christian, and Mathiesen, Jes Sloth

Subjects
multiple endocrine neoplasia type 2A, medullary thyroid carcinoma, primary hyperparathyroidism, multiple endocrine neoplasia type 2A, RET, medullary thyroid carcinoma, pheochromocytoma, primary hyperparathyroidism, RET, pheochromocytoma
Published
2020

3. Genome profiling of chronic myelomonocytic leukemia: frequent alterations of RAS and RUNX1 genes

Author

Olschwang Sylviane, Bentires-Alj Mohamed, Sainty Danielle, Arnoulet Christine, Pinson Stephane, Houdayer Claude, Aceto Nicola, Remy Virginie, Adélaïde José, Trouplin Virginie, Gelsi-Boyer Véronique, Vey Norbert, Mozziconacci Marie-Joëlle, Birnbaum Daniel, and Chaffanet Max

Subjects
Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Abstract

Abstract Background Chronic myelomonocytic leukemia (CMML) is a hematological disease close to, but separate from both myeloproliferative disorders (MPD) and myelodysplastic syndromes and may show either myeloproliferative (MP-CMML) or myelodysplastic (MD-CMML) features. Not much is known about the molecular biology of this disease. Methods We studied a series of 30 CMML samples (13 MP- and 11 MD-CMMLs, and 6 acutely transformed cases) from 29 patients by using Agilent high density array-comparative genomic hybridization (aCGH) and sequencing of 12 candidate genes. Results Two-thirds of samples did not show any obvious alteration of aCGH profiles. In one-third we observed chromosome abnormalities (e.g. trisomy 8, del20q) and gain or loss of genes (e.g. NF1, RB1 and CDK6). RAS mutations were detected in 4 cases (including an uncommon codon 146 mutation in KRAS) and PTPN11 mutations in 3 cases. We detected 11 RUNX1 alterations (9 mutations and 2 rearrangements). The rearrangements were a new, cryptic inversion of chromosomal region 21q21-22 leading to break and fusion of RUNX1 to USP16. RAS and RUNX1 alterations were not mutually exclusive. RAS pathway mutations occurred in MP-CMMLs (~46%) but not in MD-CMMLs. RUNX1 alterations (mutations and cryptic rearrangement) occurred in both MP and MD classes (~38%). Conclusion We detected RAS pathway mutations and RUNX1 alterations. The latter included a new cryptic USP16-RUNX1 fusion. In some samples, two alterations coexisted already at this early chronic stage.

Published
2008
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9. Genome profiling of chronic myelomonocytic leukemia: frequent alterations of RAS and RUNX1genes

Author

Gelsi-Boyer, Véronique, primary, Trouplin, Virginie, additional, Adélaïde, José, additional, Aceto, Nicola, additional, Remy, Virginie, additional, Pinson, Stephane, additional, Houdayer, Claude, additional, Arnoulet, Christine, additional, Sainty, Danielle, additional, Bentires-Alj, Mohamed, additional, Olschwang, Sylviane, additional, Vey, Norbert, additional, Mozziconacci, Marie-Joëlle, additional, Birnbaum, Daniel, additional, and Chaffanet, Max, additional

Published
2008
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