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6. NUP98 is rearranged in 3.8% of pediatric AML forming a clinical and molecular homogenous group with a poor prognosis

Author

Struski, S, Lagarde, S, Bories, P, Puiseux, C, Prade, N, Cuccuini, W, Pages, M-P, Bidet, A, Gervais, C, Lafage-Pochitaloff, M, Roche-Lestienne, C, Barin, C, Penther, D, Nadal, N, Radford-Weiss, I, Collonge-Rame, M-A, Gaillard, B, Mugneret, F, Lefebvre, C, Bart-Delabesse, E, Petit, A, Leverger, G, Broccardo, C, Luquet, I, Pasquet, M, and Delabesse, E

Published
2017
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7. The CADM1 tumor suppressor gene is a major candidate gene in MDS with deletion of the long arm of chromosome 11

Author

Lafage-Pochitaloff, M., Gerby, B., Baccini, V., Largeaud, L., Fregona, V., Prade, N., Juvin, P.Y., Jamrog, L.A., Bories, P., Hébrard, S., Lagarde, S., Mansat-De Mas, V., Dovey, O.M., Yusa, K., Vassiliou, G.S., Jansen, J.H., Tekath, T., Rombaut, D., Ameye, G., Barin, C., Bidet, A., Boudjarane, J., Collonge-Rame, M.A., Gervais, C., Ittel, A., Lefebvre, C., Luquet, I., Michaux, L., Nadal, N., Antoine-Poirel, H., Radford-Weiss, I., Ribourtout, B., Richebourg, S., Struski, S., Terré, C., Tigaud, I., Penther, D., Eclache, V., Fontenay, M., Broccardo, C., Delabesse, E., Lafage-Pochitaloff, M., Gerby, B., Baccini, V., Largeaud, L., Fregona, V., Prade, N., Juvin, P.Y., Jamrog, L.A., Bories, P., Hébrard, S., Lagarde, S., Mansat-De Mas, V., Dovey, O.M., Yusa, K., Vassiliou, G.S., Jansen, J.H., Tekath, T., Rombaut, D., Ameye, G., Barin, C., Bidet, A., Boudjarane, J., Collonge-Rame, M.A., Gervais, C., Ittel, A., Lefebvre, C., Luquet, I., Michaux, L., Nadal, N., Antoine-Poirel, H., Radford-Weiss, I., Ribourtout, B., Richebourg, S., Struski, S., Terré, C., Tigaud, I., Penther, D., Eclache, V., Fontenay, M., Broccardo, C., and Delabesse, E.

Abstract

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Published
2022

8. Role of primary care in the follow-up of patients with obstructive sleep apnoea undergoing CPAP treatment: a randomised controlled trial

Author

Sánchez-de-la-Torre, M, Nadal, N, Cortijo, A, Masa, JF, Duran-Cantolla, J, Valls, J, Serra, S, Sánchez-de-la-Torre, A, Gracia, M, Ferrer, F, Lorente, I, Urgeles, M C, Alonso, T, Fuentes, A, Armengol, F, Lumbierres, M, Vázquez-Polo, F J, Barbé, F, Paredes, Eugeni, Roquet, Núria, Lavega, Mercè, Sangrá, Josep, Tribó, Núria, Malla, Belen, Obis, Eugenia, Juni, Carme, Regany, Marisa, Minguez, Olga, Pasual, Lydia, Gómez, Silvia, Castro, Anabel, Tarraubella, Nuria, Turino, Cecilia, and Negrín, Miguel A

Published
2015
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11. Acute myeloid leukaemia with 8p11 (MYST3) rearrangement: an integrated cytologic, cytogenetic and molecular study by the groupe francophone de cytogénétique hématologique

Author

Gervais, C, Murati, A, Helias, C, Struski, S, Eischen, A, Lippert, E, Tigaud, I, Penther, D, Bastard, C, Mugneret, F, Poppe, B, Speleman, F, Talmant, P, Akker, J VanDen, Baranger, L, Barin, C, Luquet, I, Nadal, N, Nguyen-Khac, F, Maarek, O, Herens, C, Sainty, D, Flandrin, G, Birnbaum, D, Mozziconacci, M-J, and Lessard, M

Published
2008
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12. Hyperdiploid karyotypes in acute myeloid leukemia define a novel entity: a study of 38 patients from the Groupe Francophone de Cytogenetique Hematologique (GFCH)

Author

Luquet, I, Laï, J L, Barin, C, Baranger, L, Bilhou-Nabera, C, Lippert, E, Gervais, C, Talmant, P, Cornillet-Lefebvre, P, Perot, C, Nadal, N, Mozziconacci, M J, Lafage-Pochitaloff, M, Eclache, V, Mugneret, F, Lefebvre, C, Herens, C, Speleman, F, Poirel, H, Tigaud, I, Cabrol, C, Rousselot, P, Daliphard, S, Imbert, M, Garand, R, Geneviève, F, Berger, R, and Terre, C

Published
2008
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13. NUP98 rearrangements in hematopoietic malignancies: a study of the Groupe Francophone de Cytogénétique Hématologique

Author

Romana, S P, Radford-Weiss, I, Ben Abdelali, R, Schluth, C, Petit, A, Dastugue, N, Talmant, P, Bilhou-Nabera, C, Mugneret, F, Lafage-Pochitaloff, M, Mozziconacci, M-J, Andrieu, J, Lai, J-L, Terre, C, Rack, K, Cornillet-Lefebvre, P, Luquet, I, Nadal, N, Nguyen-Khac, F, Perot, C, Van den Akker, J, Fert-Ferrer, S, Cabrol, C, Charrin, C, Tigaud, I, Poirel, H, Vekemans, M, Bernard, O A, and Berger, R

Published
2006
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17. B-Cell Acute Lymphoblastic Leukemia (B-ALL) with T (5;14)(Q31;Q32);IGH-IL3 Rearrangement and Eosinophilia: A Peculiar IGH-Rearranged B-ALL

Author

Fournier, B., Balducci, E., Duployez, N., Clappier, E., Cuccuini, W., Cavé, H., Colomb, E. Bottollier-Lemallaz, Nebral, K., Derrieux, C., Cabannes-Hamy, A., Etancelin, P., Fenneteau, O., Gourmel, A., Loosveld, Marie, Gerard, M., Nadal, N., Reismueller, B., Attarbaschi, A., Lafage-Pochitaloff, M., Baruchel, A., Génétique des maladies multifactorielles (GMM), Université de Lille, Droit et Santé-Centre National de la Recherche Scientifique (CNRS), Centre d'Immunologie de Marseille - Luminy (CIML), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut de minéralogie, de physique des matériaux et de cosmochimie (IMPMC), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de recherche pour le développement [IRD] : UR206-Muséum national d'Histoire naturelle (MNHN)-Centre National de la Recherche Scientifique (CNRS), St. Anna Children's Hospital, AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Muséum national d'Histoire naturelle (MNHN)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de recherche pour le développement [IRD] : UR206-Centre National de la Recherche Scientifique (CNRS), and Saint Anna Children's Hospital [Vienne] = St Anna Kinderspital (St. Anna Children's Hospital)

Subjects
[SDV.IMM]Life Sciences [q-bio]/Immunology
Published
2019

18. PB1868 B-CELL PROLYMPHOCYTIC LEUKEMIA (B-PLL) AND PROLYMPHOCYTOID MANTLE CELL LYMPHOMA (PMCL) (MORE THAN 55% OF PROLYMPHOCYTES) ARE CLOSED BUT DISTINCT ENTITIES. ON BEHALF GFCH AND FILO GROUPS

Author

Chapiro, E., primary, Diop, K., additional, Dessen, P., additional, Roos-Weil, D., additional, Gabillaud, C., additional, Pramil, E., additional, Maloum, K., additional, Settegrana, C., additional, Baseggio, L., additional, Davi, F., additional, Le Garff-Tavernier, M., additional, Droin, N., additional, Algrin, C., additional, Leblond, V., additional, Eclache, V., additional, Gaillard, B., additional, Callet-Bauchu, E., additional, Muller, M., additional, Lefebvre, C., additional, Nadal, N., additional, Ittel, A., additional, Struski, S., additional, Collonge-Rame, M.-A., additional, Quilichini, B., additional, Fert-Ferrer, S., additional, Auger, N., additional, Radford-Weiss, I., additional, Susin, S., additional, Bernard, O., additional, and Nguyen-Khac, F., additional

Published
2019
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19. French multi-centric study of 2000 amniotic fluid interphase FISH analyses from high-risk pregnancies and review of the literature

Author

Luquet, I, Mugneret, F, Athis, P.D, Nadal, N, Favre, B, Abel, C, Chelloug, N, Lespinasse, J, Portnoi, M.F, Joyé, N, Dupont, J.M, Lebbar, A, Bresson, J.L, Fellmann, F, Siffroi, J.P, Chantot-Bastaraud, S, Chiesa, J, Amblard, F, Devillard, F, Jeandidier, E, Boceno, M, Rival, J.M, Bellec, V, Lallaoui, H, Delobel, B, Croquette, M.F, and Benzacken, B

Published
2002
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22. NUP98 is rearranged in 3.8% of pediatric AML forming a clinical and molecular homogenous group with a poor prognosis

Author

Struski, S, primary, Lagarde, S, additional, Bories, P, additional, Puiseux, C, additional, Prade, N, additional, Cuccuini, W, additional, Pages, M-P, additional, Bidet, A, additional, Gervais, C, additional, Lafage-Pochitaloff, M, additional, Roche-Lestienne, C, additional, Barin, C, additional, Penther, D, additional, Nadal, N, additional, Radford-Weiss, I, additional, Collonge-Rame, M-A, additional, Gaillard, B, additional, Mugneret, F, additional, Lefebvre, C, additional, Bart-Delabesse, E, additional, Petit, A, additional, Leverger, G, additional, Broccardo, C, additional, Luquet, I, additional, Pasquet, M, additional, and Delabesse, E, additional

Published
2016
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27. A 71 years old patient with bone pain: review of one case

Author

Garzón Garzón, T., Riera Nadal, N., and Sequeira Aymar, E.

Subjects
Bone pain, SPA elevation, Dolor óseo, Metástasis óseas, Elevación del PSA, Bone methatasis
Abstract

Se trata de un paciente de 71 años que consulta por coxalgia mecánica izquierda de un mes de evolución. Se solicita una radiografía de pelvis que es informada como aumento difuso de la densidad ósea sugestivo de enfermedad de Paget. El cambio de dolor a inflamatorio nos llevó a ampliar el estudio y a plantearnos posibles diagnósticos diferenciales. Se evidencia así una analítica alterada con anemia normocítica normocrómica, aumento de la VSG, de la fosfatasa alcalina y del PSA. La gammagrafía ósea confirma la presencia de metástasis óseas. Con este caso queremos destacar la importancia de describir imágenes radiológicas pero no dar diagnósticos y en segundo lugar profundizar en el diagnóstico diferencial de los signos y síntomas de los dolores óseos. Case about a 71 years old patient consulting for mechanical left hip pain of one month evolution. We ask for a pelvis X-ray because there is a diffuculty for adduction in the phisical exploration. This is written by the radiologist like diffuse elevation of the bone suggesting Paget disease. The change of the pain to inflamatory induces us to investigate further and think about differential diagnosis. We got in the blood test normocromic normocitic anemia, ESR elevation, AF elevation and a high SPA. The bone gammagraphy shows bone methastasis. With this case we want to show the importance of describing radiology findings without giving diagnostics and in the other hand go through the differential diagnosis of the bone pain.

Published
2002

29. Two cases of terminal deletion of chromosome 13: clinical features, conventional and molecular cytogenetic analysis

Author

Luquet I, Favre B, Nadal N, Madinier N, Philippe KHAU VAN KIEN, Huet F, Nivelon-Chevallier A, and Mugneret F

Subjects
Craniofacial Abnormalities, Male, Chromosomes, Human, Pair 13, Child, Preschool, Intellectual Disability, Karyotyping, Humans, Female, Gene Deletion, In Situ Hybridization, Fluorescence, Chromosome Banding
Abstract

We report the cases of two unrelated patients with psychomotor retardation and craniofacial abnormalities, in whom cytogenetic studies have revealed a terminal deletion of chromosome 13 confirmed by fluorescence in situ hybridization (FISH). This del(13)(q33.2) is the smallest terminal deletion of the 13q reported so far. Interestingly enough, the serum level of coagulation factors VII and X, whose genes are located in 13q34, were reduced in both patients. These cases illustrate the difficulties in identifying precisely chromosome deletions and demonstrate that FISH techniques allow to obtain a more precise correlation between clinical phenotype and cytogenetic abnormalities.

Published
1999

30. Heterogeneous patterns of amplification of the NUP214-ABL1 fusion gene in T-cell acute lymphoblastic leukemia

Author

UCL - (MGD) Service d'hématologie, UCL - MD/MINT - Département de médecine interne, Graux, Carlos, Stevens-Kroef, M., Lafage, M., Dastugue, N., Harrison, C.J., Mugneret, F., Bahloula, Khadija, Struski, S., Grégoire, M.J., Nadal, N., Lippert, E., Taviaux, S., Simons, A., Kuiper, R.P., Moorman, A.V., Barber, K., Bosly, André, Michaux, Lucienne, Vandenberghe, Pierre, Lahortiga, I., De Keersmaecker, K., Wlodarska, I., Cools, J., Hagemeijer, A., Antoine-Poirel, Mathilde, UCL - (MGD) Service d'hématologie, UCL - MD/MINT - Département de médecine interne, Graux, Carlos, Stevens-Kroef, M., Lafage, M., Dastugue, N., Harrison, C.J., Mugneret, F., Bahloula, Khadija, Struski, S., Grégoire, M.J., Nadal, N., Lippert, E., Taviaux, S., Simons, A., Kuiper, R.P., Moorman, A.V., Barber, K., Bosly, André, Michaux, Lucienne, Vandenberghe, Pierre, Lahortiga, I., De Keersmaecker, K., Wlodarska, I., Cools, J., Hagemeijer, A., and Antoine-Poirel, Mathilde

Abstract

Episomes with the NUP214-ABL1 fusion gene have been observed in 6% of T-ALL. In this multicentric study we collected 27 cases of NUP214-ABL1-positive T-ALL. Median age was 15 years with male predominance. Outcome was poor in 12 patients. An associated abnormality involving TLX1 or TLX3 was found in all investigated cases. Fluorescent in situ hybridization revealed a heterogeneous pattern of NUP214-ABL1 amplification. Multiple episomes carrying the fusion were detected in 24 patients. Episomes were observed in a significant number of nuclei in 18 cases, but in only 1-5% of nuclei in 6. In addition, intrachromosomal amplification (small hsr) was identified either as the only change or in association with episomes in four cases and two T-ALL cell lines (PEER and ALL-SIL). One case showed insertion of apparently non-amplified NUP214-ABL1 sequences at 14q12. The amplified sequences were analyzed using array-based CGH.These findings confirm that the NUP214-ABL1 gene requires amplification for oncogenicity; it is part of a multistep process of leukemogenesis; and it can be a late event present only in subpopulations. Data also provide in vivo evidence for a model of episome formation, amplification and optional reintegration into the genome. Implications for the use of kinase inhibitors are discussed.

Published
2009

31. Heterogeneous patterns of amplification of the NUP214-ABL1 fusion gene in T-cell acute lymphoblastic leukemia.

Author

Graux, C., Stevens-Kroef, M.J.P.L., Lafage, M., Dastugue, N., Harrison, C.J., Mugneret, F., Bahloula, K., Struski, S., Gregoire, M.J., Nadal, N., Lippert, E., Taviaux, S., Simons, A., Kuiper, R.P., Moorman, A.V., Barber, K., Bosly, A., Michaux, L., Vandenberghe, P., Lahortiga, I., Keersmaecker, K. De, Wlodarska, I., Cools, J., Hagemeijer, A., Poirel, H.A., Graux, C., Stevens-Kroef, M.J.P.L., Lafage, M., Dastugue, N., Harrison, C.J., Mugneret, F., Bahloula, K., Struski, S., Gregoire, M.J., Nadal, N., Lippert, E., Taviaux, S., Simons, A., Kuiper, R.P., Moorman, A.V., Barber, K., Bosly, A., Michaux, L., Vandenberghe, P., Lahortiga, I., Keersmaecker, K. De, Wlodarska, I., Cools, J., Hagemeijer, A., and Poirel, H.A.

Abstract

Contains fulltext : 80509.pdf (publisher's version ) (Closed access), Episomes with the NUP214-ABL1 fusion gene have been observed in 6% of T-ALL. In this multicentric study we collected 27 cases of NUP214-ABL1-positive T-ALL. Median age was 15 years with male predominance. Outcome was poor in 12 patients. An associated abnormality involving TLX1 or TLX3 was found in all investigated cases. Fluorescent in situ hybridization revealed a heterogeneous pattern of NUP214-ABL1 amplification. Multiple episomes carrying the fusion were detected in 24 patients. Episomes were observed in a significant number of nuclei in 18 cases, but in only 1-5% of nuclei in 6. In addition, intrachromosomal amplification (small hsr) was identified either as the only change or in association with episomes in four cases and two T-ALL cell lines (PEER and ALL-SIL). One case showed insertion of apparently non-amplified NUP214-ABL1 sequences at 14q12. The amplified sequences were analyzed using array-based CGH.These findings confirm that the NUP214-ABL1 gene requires amplification for oncogenicity; it is part of a multistep process of leukemogenesis; and it can be a late event present only in subpopulations. Data also provide in vivo evidence for a model of episome formation, amplification and optional reintegration into the genome. Implications for the use of kinase inhibitors are discussed.

Published
2009

32. Characterization of Nup214-abl1 Positive T-cell Acute Lymphoblastic Leukemia Reveals Genomic Heterogeneity of the Fusion Gene Presentation

Author

UCL - Cliniques universitaires Saint-Luc, UCL - MD/MINT - Département de médecine interne, UCL - MD/BICL - Département de biochimie et de biologie cellulaire, UCL - (MGD) Service d'hématologie, Graux, Carlos, Michaux, Lucienne, Poirel, Hélène, Dastugue, N., Lafage, M., Mugneret, Francine, Struski, S., Gregoire, Michel, Nadal, N., Lippert, E., Stevens-Kroef, M., Vandenberghe, Peter, Bosly, André, Wlodarska, Iwona, Lahortiga, Idoya, De Keersmaecker, Kim, Cools, Jan, Hagemeijer, Anne, UCL - Cliniques universitaires Saint-Luc, UCL - MD/MINT - Département de médecine interne, UCL - MD/BICL - Département de biochimie et de biologie cellulaire, UCL - (MGD) Service d'hématologie, Graux, Carlos, Michaux, Lucienne, Poirel, Hélène, Dastugue, N., Lafage, M., Mugneret, Francine, Struski, S., Gregoire, Michel, Nadal, N., Lippert, E., Stevens-Kroef, M., Vandenberghe, Peter, Bosly, André, Wlodarska, Iwona, Lahortiga, Idoya, De Keersmaecker, Kim, Cools, Jan, and Hagemeijer, Anne

Published
2008

33. Report of 38 patients with hyperdiploid karyotype in acute myeloid leukemia: A groupe francais de cytogenetique hematologique study

Author

UCL - MD/MINT - Département de médecine interne, Terre, C., Luquet, I., Laie, J. L., Barin, C., Baranger, L., Bilhou-Nabera, C., Lippert, E., Gervais, C., Talmant, P., Cornillet-Lefebvre, P., Perot, C., Nadal, N., Mozziconacci, Marie-Joëlle, Lafage-Pochitaloff, M., Eclache, V., Mugneret, Francine, Lefebvre, Chantal, Herens, C., Speleman, F., Poirel, Hélène, Tigaud, I., Cabrol, C., Rousselot, P., Castaigne, S., Berger, R., 12th Congress of the European-Hematology-Association, UCL - MD/MINT - Département de médecine interne, Terre, C., Luquet, I., Laie, J. L., Barin, C., Baranger, L., Bilhou-Nabera, C., Lippert, E., Gervais, C., Talmant, P., Cornillet-Lefebvre, P., Perot, C., Nadal, N., Mozziconacci, Marie-Joëlle, Lafage-Pochitaloff, M., Eclache, V., Mugneret, Francine, Lefebvre, Chantal, Herens, C., Speleman, F., Poirel, Hélène, Tigaud, I., Cabrol, C., Rousselot, P., Castaigne, S., Berger, R., and 12th Congress of the European-Hematology-Association

Published
2007

35. NUP98is rearranged in 3.8% of pediatric AML forming a clinical and molecular homogenous group with a poor prognosis

Author

Struski, S, Lagarde, S, Bories, P, Puiseux, C, Prade, N, Cuccuini, W, Pages, M-P, Bidet, A, Gervais, C, Lafage-Pochitaloff, M, Roche-Lestienne, C, Barin, C, Penther, D, Nadal, N, Radford-Weiss, I, Collonge-Rame, M-A, Gaillard, B, Mugneret, F, Lefebvre, C, Bart-Delabesse, E, Petit, A, Leverger, G, Broccardo, C, Luquet, I, Pasquet, M, and Delabesse, E

Abstract

Pediatric acute myeloid leukemia (AML) is a rare disease whose prognosis is highly variable according to factors such as chromosomal abnormalities. Recurrent genomic rearrangements are detected in half of pediatric AML by karyotype. NUcleoPorin 98(NUP98) gene is rearranged with 31 different fusion partner genes. These rearrangements are frequently undetected by conventional cytogenetics, as the NUP98gene is located at the end of the chromosome 11 short arm (11p15). By screening a series of 574 pediatric AML, we detected a NUP98rearrangement in 22 cases (3.8%), a frequency similar to CBFB-MYH11fusion gene (4.0%). The most frequent NUP98fusion gene partner is NSD1. These cases are homogeneous regarding their biological and clinical characteristics, and associated with bad prognosis only improved by bone marrow transplantation. We detailed the biological characteristics of these AML by exome sequencing which demonstrated few recurrent mutations (FLT3ITD, WT1, CEBPA, NBPF14, BCRand ODF1). The analysis of the clonal structure in these cases suggests that the mutation order in the NUP98-rearranged pediatric AML begins with the NUP98rearrangement leading to epigenetic dysregulations then followed by mutations of critical hematopoietic transcription factors and finally, activation of the FLT3 signaling pathway.

Published
2017
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37. Hyperdiploid karyotypes in acute myeloid leukemia define a novel entity: a study of 38 patients from the Groupe Francophone de Cytogenetique Hematologique (GFCH)

Author

Luquet, I, primary, Laï, J L, additional, Barin, C, additional, Baranger, L, additional, Bilhou-Nabera, C, additional, Lippert, E, additional, Gervais, C, additional, Talmant, P, additional, Cornillet-Lefebvre, P, additional, Perot, C, additional, Nadal, N, additional, Mozziconacci, M J, additional, Lafage-Pochitaloff, M, additional, Eclache, V, additional, Mugneret, F, additional, Lefebvre, C, additional, Herens, C, additional, Speleman, F, additional, Poirel, H, additional, Tigaud, I, additional, Cabrol, C, additional, Rousselot, P, additional, Daliphard, S, additional, Imbert, M, additional, Garand, R, additional, Geneviève, F, additional, Berger, R, additional, and Terre, C, additional

Published
2007
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43. Giant axonal neuropathy: clinical study and genetic mapping

Author

Hamida, C. Ben, primary, Cavalier, L., additional, Belal, S., additional, Sanhaji, H., additional, Nadal, N., additional, Barhoumi, C., additional, Mrissa, N., additional, Maarzouki, N., additional, Mandel, J.-L., additional, Hamida, M. Ben, additional, Koenig, M., additional, and Hentati, F., additional

Published
1997
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44. Flood susceptibility assessment in a highly urbanized alluvial fan: the case study of Sala Consilina (southern Italy).

Author

Santangelo, N., Santo, A., Di Crescenzo, G., Foscari, G., Liuzza, V., Sciarrotta, S., Scorpio, V., Luino, F., and Nadal, N.

Subjects
ALLUVIAL fans, RISK assessment, DEBRIS avalanches, HOLOCENE Epoch, CITIES & towns, HAZARD mitigation
Abstract

This paper deals with the risk assessment to alluvial fan flooding at the piedmont zone of carbonatemassifs of the southern Apennines chain (southern Italy). These areas are prime spots for urban development and are generally con sidered to be safer than the valley floors. As a result, villages and towns have been built on alluvial fans which, during in tense storms, may be affected by flooding and/or debris flow processes. The study area is located at the foothills of the Maddalena mountains, an elongated NW-SE trending ridge which bounds to the east the wide intermontane basin of Vallo di Diano. The area comprises a wide detrital talus (bajada) made up by coalescent alluvial fans, ranging in age from the Middle Pleistocene to the Holocene. Historical analysis was carried out to ascertain the state of activity of the fans and to identify and map the zones most hit by past flooding. According to the information gathered, the Sala Consilina fans would appear prone to debris flows; in the past these processes have produced extensive damage and loss of life in the urban area. The watershed basins feeding the fans have very low response times and may produce debris flow events with high magnitudes. Taking into account the historical damage, the fan surface morphology, and the present urban development (street orientation and hydraulic network), the piedmont area was zoned and various susceptibility classes were detected. These results may represent a useful tool for studies aiming at territorial hazard mapping and civil protection interventions. [ABSTRACT FROM AUTHOR]

Published
2011
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45. Multiparametric analysis of normal and postchemotherapy bone marrow: Implication for the detection of leukemia-associated immunophenotypes

Author

Olaru, D., Campos, L., Flandrin, P., Nadal, N., Duval, A., Chautard, S., and Guyotat, D.

Abstract

The knowledge of normal marrow is mandatory to assess the malignant counterpart of normal cells and define leukemia‐associated immunophenotypes (LAIPs). In this study, the expression of a variety of antigens expressed in normal and postchemotherapy bone marrow (BM) was analyzed to provide a frame of reference for the identification of myeloid LAIPs.Multiparameter four‐ and six‐color flow cytometry was used to define antigen combinations totally absent or present at very minimal levels in marrow cells of normal individuals (n = 20) and patients receiving chemotherapy for acute lymphoblastic leukemia (n = 20). Immature (blast) cells were gated according to CD45/SSC properties. Fifty‐three acute myeloid leukemia (AML) samples were studied in six‐color combinations.In six‐color flow cytometry, 47 phenotypes were totally absent from blast gate in all normal samples. Forty‐one other phenotypes were identified in less than 0.05% of blast cells. There was no difference between normal and postchemotherapy BMs. The four‐color panel allowed to identify only 30 phenotypes present at a frequency <0.05%. Using the six‐color panel, 58% of the absent or infrequent phenotypes in normal BM were found in at least one of 53 AML samples. All AML cases exhibited at least one LAIP.Our results show that the ability to distinguish leukemic from healthy cells is considerably increased by a six‐color approach. Furthermore, these absent or infrequent phenotypes in normal BM are identified in AML and can be utilized for minimal residual disease study. © 2007 Clinical Cytometry Society

Published
2008
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49. Molecular landscape of mature B-cell lymphoproliferative disorders with BCL3-translocation: A Groupe Francophone de Cytogénétique Hématologique (GFCH)/French Innovative Leukemia Organization (FILO) study.

Author

Véronèse L, Bensaber H, Dannus LT, Giannone G, Choiset C, Grimpret C, Abermil N, Balducci E, Bidet A, Chapiro E, Couronné L, Daudignon A, Douet-Gilbert N, Eclache V, Gaillard B, Gaillard JB, Hsoumi F, Lefebvre C, Nadal N, Mozziconacci MJ, Penther D, Ribourtout B, Richebourg S, Rigollet L, Terre C, Soler G, Tournilhac O, Guièze R, Nguyen-Khac F, and Tchirkov A

Subjects
Humans, Male, Female, Middle Aged, Lymphoproliferative Disorders genetics, Lymphoproliferative Disorders diagnosis, Aged, B-Lymphocytes metabolism, B-Lymphocytes pathology, Adult, France, B-Cell Lymphoma 3 Protein, Translocation, Genetic
Published
2024
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50. Cytogenetics in the management of mature T-cell and NK-cell neoplasms: Guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH).

Author

Gaillard JB, Chapiro E, Daudignon A, Nadal N, Penther D, Chauzeix J, Nguyen-Khac F, Veronese L, and Lefebvre C

Subjects
Humans, Cytogenetic Analysis methods, Killer Cells, Natural, T-Lymphocytes, Hematology, Lymphoma
Abstract

Mature T-cell and natural killer (NK)-cell neoplasms (MTNKNs) are a highly heterogeneous group of lymphomas that represent 10-15 % of lymphoid neoplasms and have usually an aggressive behavior. Diagnosis can be challenging due to their overlapping clinical, histological and immunophenotypic features. Genetic data are not a routine component of the diagnostic algorithm for most MTNKNs. Indeed, unlike B-cell lymphomas, the genomic landscape of MTNKNs is not fully understood. Only few characteristic rearrangements can be easily identified with conventional cytogenetic methods and are an integral part of the diagnostic criteria, for instance the t(14;14)/inv(14) or t(X;14) abnormality harbored by 95 % of patients with T-cell prolymphocytic leukemia, or the ALK gene translocation observed in some forms of anaplastic large cell lymphoma. However, advances in molecular and cytogenetic techniques have brought new insights into MTNKN pathogenesis. Several recurrent genetic alterations have been identified, such as chromosomal losses involving tumor suppressor genes (SETD2, CDKN2A, TP53) and gains involving oncogenes (MYC), activating mutations in signaling pathways (JAK-STAT, RAS), and epigenetic dysregulation, that have improved our understanding of these pathologies. This work provides an overview of the cytogenetics knowledge in MTNKNs in the context of the new World Health Organization classification and the International Consensus Classification of hematolymphoid tumors. It describes key genetic alterations and their clinical implications. It also proposes recommendations on cytogenetic methods for MTNKN diagnosis., Competing Interests: Declaration of Competing Interest The authors declare that they have no conflict of interest., (Copyright © 2023 Elsevier Masson SAS. All rights reserved.)

Published
2023
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