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1. SALL4 and NFATC2: two major actors of interstitial 20q13.2 duplication.: Genotype-phenotype relevance in 20q13.2 gain

Author

Bassim Tou, J. Bachir, Christine Francannet, Lucie Tosca, Audrey Briand-Suleau, Joris Vermeesch, Irina Giurgea, Michel Goossens, Sophie Brisset, Alexandra Benachi, Philippe Vago, Valérie Delattre, Jérôme Bouligand, Corinne Metay, P. Folliot, Anne Guiochon-Mantel, Carole Goumy, Jelena Martinovic, Gérard Tachdjian, Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service de Biochimie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Plateforme de Génétique Constitutionnelle, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor, Unité fonctionnelle de Fœtopathologie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Antoine Béclère [Clamart], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Modèles de Cellules Souches Malignes et Thérapeutiques, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Sud - Paris 11 (UP11), Service d'Histologie, Embryologie et Cytogénétique, Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Antoine Béclère [Clamart], Service de génétique moléculaire, pharmacogénétique et hormonologie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, Récepteurs stéroïdiens : physiopathologie endocrinienne et métabolique, Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR93-Université Paris-Sud - Paris 11 (UP11), Cytogénétique Médicale, CHU Clermont-Ferrand-Université d'Auvergne - Clermont-Ferrand I (UdA)-CHU Estaing [Clermont-Ferrand], CHU Clermont-Ferrand, Equipe de recherche sur les traitements individualisés des cancers (ERTICa), Université d'Auvergne - Clermont-Ferrand I (UdA), Génétique, Reproduction et Développement (GReD), Centre National de la Recherche Scientifique (CNRS)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Institut National de la Santé et de la Recherche Médicale (INSERM), Génétique Médicale, CHU Clermont-Ferrand-CHU Estaing [Clermont-Ferrand], Service de Gynécologie Obstétrique, Centre for Human Genetics, Grants from the French Ministry (DHOS)., Université Paris-Sud - Paris 11 (UP11)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris-Sud - Paris 11 (UP11)-IFR93-Institut National de la Santé et de la Recherche Médicale (INSERM), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Centre National de la Recherche Scientifique (CNRS)

Subjects
Heart Defects, Congenital, Male, Chromosomes, Human, Pair 22, Developmental Disabilities, Karyotype, dysmorphism, Biology, Craniofacial Abnormalities, Young Adult, 03 medical and health sciences, SALL4, Gene Duplication, Gene duplication, Genetics, cardiac malformation, Humans, 20q13.2 microduplication, Abnormalities, Multiple, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Gene, In Situ Hybridization, Fluorescence, Genetics (clinical), 030304 developmental biology, Chromosome Aberrations, Comparative Genomic Hybridization, 0303 health sciences, NFATC Transcription Factors, 030305 genetics & heredity, Breakpoint, Chromosome, NFATC2, General Medicine, developmental delay, Fetal Diseases, Child, Preschool, NFATC2 Gene, Female, Chromosome 20, Abnormality, Transcription Factors
Abstract

International audience; Interstitial duplication within the long arm of chromosome 20 is an uncommon chromosome structural abnormality. We report here the clinical and molecular characterization associated with pure 20q13.2 duplication in three unrelated patients. The most frequent clinical features were developmental delay, facial dysmorphism, cardiac malformation and skeletal anomalies. All DNA gains occurred de novo, ranging from 1.1 Mb to 11.5 Mb. Compared with previously reported conventional cytogenetic analyses, oligonucleotides array CGH allowed us to refine breakpoints and determine the genes of interest in the region. Involvement of SALL4 in cardiac malformations and NFATC2 gene disruption in both cardiac and skeletal anomalies are discussed.

Published
2014

2. PEDIATRICS CLINICAL RESEARCH

Author

R. Antony, M. Zagardo, M. Gujrati, J. Lin, M. Al-Rahawan, A. Broniscer, R. Bhardwaj, C. Hampton, V. Ozols, M. Chakravadhanula, E. Bouffet, C. Hawkins, K. Scheinemann, S. Zelcer, D. Johnston, L. Lafay-Cousin, V. Larouche, N. Jabado, A. S. Carret, J. Hukin, D. Eisenstat, G. Pond, K. Poskitt, B. Wilson, U. Bartels, U. Tabori, G. Dhall, K. Haley, J. Finlay, T. Rushing, R. Sposto, R. Seeger, J. Garvin, K. Rupani, E. Stark, R. Anderson, N. Feldstein, J. Grill, D. Hargrave, M. Massimino, T. Jaspan, P. Varlet, C. Jones, P. Morgan, M. C. Le Deley, A. Azizi, A. Canete, F. Saran, J. Bachir, L. Bubuteishvili-Pacaud, R. Rousseau, G. Vassal, S. Gupta, N. Robinson, N. Dhir, K. Wong, S. Zhou, T. Kumabe, T. Kawaguchi, R. Saito, M. Kanamori, Y. Yamashita, Y. Sonoda, T. Tominaga, T. Miyagawa, C. Nwachukwu, R. Youland, N. Laack, I. Filipek, M. Drogosiewicz, M. P.- Polnik, E. Swieszkowska, B. Dembowska-Baginska, E. Jurkiewicz, D. Perek, W. Grajkowska, M. Roszkowski, G. Sobol, K. Musiol, J. Wachowiak, B. Kazmierczak, J. P. - Pogorzelski, W. Mlynarski, B. Z.- Szewczyk, M. Wysocki, E. Niedzielska, J. Kowalczyk, H. W. - Slusarz, W. Balwierz, E. Z. - Czepko, A. Szolkiewicz, M. Perek-Polnik, M. Lastowska, M. Chojnacka, M. Tarasinska, S. Perreault, K. Chao, V. Ramaswamy, D. Shih, M. Remke, B. Luu, S. Schubert, P. Fisher, S. Partap, H. Vogel, M. Taylor, L. Goumnerova, Y.-J. Cho, N. Robison, R. Brown, T. Cloughesy, T. B. Davidson, M. Krieger, M. Berger, A. Perry, F. Gilles, J. L. Finlay, J. Khemani, B. Britt, J. Grimm, M. I. Ruge, T. Blau, V. Hafkemeyer, C. Hamisch, K. Klinger, T. Simon, Z. Sadighi, B. Ellezam, M. Guindani, J. Ater, Y. Shimizu, H. Arai, M. Miyajima, K. Shimoji, A. Kondo, E. Shinohara, S. Perkins, T. DeWees, I. Slavc, M. Chocholous, U. Leiss, C. Haberler, A. Peyrl, A. A. Azizi, K. Dieckmann, A. Woehrer, C. Dorfer, T. Czech, T. Spence, D. Picard, M. Barszczyk, S.-K. Kim, Y.-S. Ra, J. Fangusaro, H. Toledano, H. Nakamura, X. Fan, K. M. Muraszko, H.-K. Ng, W. Halliday, M. Shago, C. E. Hawkins, A. Huang, M. Suzuki, S. V. van Zanten, M. Jansen, D. van Vuurden, E. Hulleman, S. Idema, D. Noske, N. Wolf, H. Hendrikse, P. Vandertop, G. J. Kaspers, K. Muller, A. Schlamann, M. Warmuth-Metz, T. Pietsch, S. Pietschmann, R.-D. Kortmann, C. M. Kramm, A. O. von Bueren, S. Walston, T. Williams, D. Hamstra, K. Oh, C. Pelloski, N. Zhukova, J. Pole, M. Mistry, I. Fried, N. Lapperiere, P. Dirks, J. An, N. Alon, P. Nathan, M. Greenberg, and D. Malkin

Subjects
Cancer Research, medicine.medical_specialty, business.industry, 03 medical and health sciences, Abstracts, 0302 clinical medicine, Clinical research, Oncology, 030220 oncology & carcinogenesis, Family medicine, medicine, Neurology (clinical), business, 030217 neurology & neurosurgery
Published
2011

3. Integrated analysis of long-term growth and bone development in pediatric and adolescent patients receiving bevacizumab.

Author

Müller HL, Merks JHM, Geoerger B, Grill J, Hargrave D, Glade Bender J, Gururangan S, Navid F, Johnston M, Bachir J, Elze MC, and Fürst-Recktenwald S

Subjects
Adolescent, Body Height drug effects, Body Weight drug effects, Child, Child, Preschool, Female, Humans, Infant, Male, Antineoplastic Agents, Immunological adverse effects, Bevacizumab adverse effects, Bone Development drug effects, Neoplasms drug therapy
Abstract

Background: We conducted an integrated analysis of clinical data to describe long-term effects of bevacizumab on growth and bone development in pediatric and adolescent patients with solid tumors., Procedure: Clinical data were pooled from five phase I/II trials of bevacizumab versus chemotherapy: BERNIE, HERBY, and AVF4117s enrolled newly diagnosed patients, AVF3842s and AVF2771s enrolled patients with relapsed/refractory disease. Height, weight, body mass index (BMI), and bone-age data were pooled by treatment group. Growth charts were used to track and monitor growth in relation to a reference population of healthy children. Bone age was measured based on X-ray of the left hand and wrist. Analyses were exploratory/descriptive., Results: Overall, 268 patients received bevacizumab ± chemotherapy and 135 received chemotherapy alone. Baseline characteristics were generally balanced. Median duration of long-term follow-up was 41.8 months (range, 2.4-75.1) with bevacizumab and 22.9 months (range, 2.8-69.2) with chemotherapy alone. Patients had age-appropriate baseline height and weight. Mean height and weight percentiles decreased over time in both treatment groups, but remained within the normal range (height: mean standard deviation score [SDS] range -2 to +3; weight: mean SDS range -2 to +1). Similar trends were seen in BMI. A tendency for reduced growth velocity relative to the reference population was observed at 6 months and 1 year in both groups, but there was no additional decrease for patients receiving bevacizumab., Conclusion: Bevacizumab did not appear to have additional negative effects on growth or development of pediatric and adolescent patients with solid tumors., (© 2018 Wiley Periodicals, Inc.)

Published
2019
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4. Open-label, multicentre, randomised, phase II study of the EpSSG and the ITCC evaluating the addition of bevacizumab to chemotherapy in childhood and adolescent patients with metastatic soft tissue sarcoma (the BERNIE study).

Author

Chisholm JC, Merks JHM, Casanova M, Bisogno G, Orbach D, Gentet JC, Thomassin-Defachelles AS, Chastagner P, Lowis S, Ronghe M, McHugh K, van Rijn RR, Hilton M, Bachir J, Fürst-Recktenwald S, Geoerger B, and Oberlin O

Subjects
Adolescent, Angiogenesis Inhibitors adverse effects, Bevacizumab adverse effects, Child, Child, Preschool, Disease-Free Survival, Female, Humans, Induction Chemotherapy methods, Infant, Maintenance Chemotherapy methods, Male, Soft Tissue Neoplasms pathology, Angiogenesis Inhibitors therapeutic use, Antineoplastic Combined Chemotherapy Protocols therapeutic use, Bevacizumab therapeutic use, Sarcoma drug therapy, Soft Tissue Neoplasms drug therapy
Abstract

Purpose: We evaluated the role of bevacizumab as part of the multi-modality treatment of children and adolescents with metastatic rhabdomyosarcoma (RMS) or non-rhabdomyosarcoma soft tissue sarcoma (NRSTS)., Patients and Methods: Eligible patients aged ≥6 months to <18 years were randomised to receive induction chemotherapy (four cycles of IVADo + five cycles of IVA, ±bevacizumab), surgery and/or radiotherapy, followed by maintenance chemotherapy (12 cycles of low-dose cyclophosphamide + vinorelbine, ±bevacizumab). The primary objective was event-free survival (EFS) evaluated by an independent radiological review committee., Results: One hundred and fifty-four patients were randomised to receive chemotherapy alone (n = 80) or with bevacizumab (n = 74). At the data cut-off for the primary efficacy analysis, median EFS was 14.9 months (95% confidence interval [CI]: 10.8-35.9) with chemotherapy and 20.6 months (95% CI: 15.2-24.9) with bevacizumab plus chemotherapy (stratified hazard ratio [HR] = 0.93; 95% CI: 0.61-1.41; P = 0.72). The HR for EFS in patients with RMS (n = 103) was 1.24 (95% CI: 0.73-2.09) versus 0.64 (95% CI: 0.32-1.26) for those with NRSTS (n = 49). Objective response rate was 36.0% (95% CI: 25.2-47.9) with chemotherapy and 54.0% (95% CI: 40.9-66.6) with bevacizumab plus chemotherapy (difference of 18.0%; 95% CI: 0.6-35.3). There were no treatment-related deaths and no increased incidence of grade 3/4 toxicities with bevacizumab., Conclusion: The addition of bevacizumab to chemotherapy appeared tolerable in children and adolescents with metastatic RMS/NRSTS, but the primary end-point of EFS did not show statistically significant improvement., Trial Registration: ClinicalTrials.gov, NCT00643565., (Copyright © 2017 Elsevier Ltd. All rights reserved.)

Published
2017
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5. SALL4 and NFATC2: two major actors of interstitial 20q13.2 duplication.

Author

Briand-Suleau A, Martinovic J, Tosca L, Tou B, Brisset S, Bouligand J, Delattre V, Giurgea I, Bachir J, Folliot P, Goumy C, Francannet C, Guiochon-Mantel A, Benachi A, Vermeesch J, Tachdjian G, Vago P, Goossens M, and Métay C

Subjects
Child, Preschool, Chromosome Aberrations, Comparative Genomic Hybridization, Craniofacial Abnormalities genetics, Developmental Disabilities genetics, Female, Fetal Diseases genetics, Heart Defects, Congenital genetics, Humans, In Situ Hybridization, Fluorescence, Karyotype, Male, Young Adult, Abnormalities, Multiple genetics, Chromosomes, Human, Pair 22 genetics, Gene Duplication, NFATC Transcription Factors genetics, Transcription Factors genetics
Abstract

Interstitial duplication within the long arm of chromosome 20 is an uncommon chromosome structural abnormality. We report here the clinical and molecular characterization associated with pure 20q13.2 duplication in three unrelated patients. The most frequent clinical features were developmental delay, facial dysmorphism, cardiac malformation and skeletal anomalies. All DNA gains occurred de novo, ranging from 1.1 Mb to 11.5 Mb. Compared with previously reported conventional cytogenetic analyses, oligonucleotides array CGH allowed us to refine breakpoints and determine the genes of interest in the region. Involvement of SALL4 in cardiac malformations and NFATC2 gene disruption in both cardiac and skeletal anomalies are discussed., (Copyright © 2014 Elsevier Masson SAS. All rights reserved.)

Published
2014
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6. Northern Wisconsin married couple infected with blastomycosis.

Author

Bachir J and Fitch GL

Subjects
Antifungal Agents therapeutic use, Blastomycosis drug therapy, Blastomycosis transmission, Diagnosis, Differential, Female, Humans, Itraconazole therapeutic use, Male, Middle Aged, Wisconsin, Blastomycosis diagnosis, Spouses
Abstract

Blastomycosis is an uncommon, chronic, granulomatous disease caused by the dimorphic fungus Blastomycosis dermatitidis. The great majority of infections start with primary pulmonary involvement through inhalation of spores. Hematogenous dissemination to other sites occurs in 25% to 30% of cases. The most common secondary site is the skin, followed in order by bone, genitourinary system, and central venous system. We report 2 cases of blastomycosis originating in a husband and wife who were both symptomatic and diagnosed with blastomycosis within 4 months of each other. One presented with pulmonary symptoms, the other with cutaneous symptoms. These 2 cases of husband and wife are of interest not only because of their rarity but also because of the potential mode of transmission.

Published
2006

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