Genomes and Genes
Experts and Doctors on neuroblastoma in Paris, Île de France, France
Locale: Paris, Île de France, France
- Cazes A, Louis Brennetot C, Mazot P, Dingli F, Lombard B, Boeva V, et al. Characterization of rearrangements involving the ALK gene reveals a novel truncated form associated with tumor aggressiveness in neuroblastoma. Cancer Res. 2013;73:195-204 pubmed publisher..These results indicate that genomic rearrangements constitute an alternative mechanism to ALK point mutations resulting in receptor activation. ..
- Bielle F, Freneaux P, Jeanne Pasquier C, Maran Gonzalez A, Rousseau A, Lamant L, et al. PHOX2B immunolabeling: a novel tool for the diagnosis of undifferentiated neuroblastomas among childhood small round blue-cell tumors. Am J Surg Pathol. 2012;36:1141-9 pubmed publisher..Finally, we showed that PHOX2B immunohistochemical analysis improves the diagnosis of undifferentiated neuroblastoma with high specificity and sensitivity. ..
- Bourdeaut F, Ferrand S, Brugieres L, Hilbert M, Ribeiro A, Lacroix L, et al. ALK germline mutations in patients with neuroblastoma: a rare and weakly penetrant syndrome. Eur J Hum Genet. 2012;20:291-7 pubmed publisher..Finally, no PHOX2B germline mutation was found in this series. In conclusion, ALK deleterious mutations are rare events in patients with a high probability of predisposition. Other predisposing genes remain to be discovered. ..
- Babajko S, Grellier P, De Galle B, Menouny M, Binoux M. IGFBPs are involved in xenograft development in nude mice. Med Pediatr Oncol. 2001;36:154-6 pubmed..Although the mechanisms of action of IGFBP-2 and IGFBP-6 remain to be elucidated, an inverse relationship appears to exist between the two binding proteins, IGFBP-2 being involved in proliferation and IGFBP-6 in its arrest. ..
- Bourdeaut F, Janoueix Lerosey I, Lucchesi C, Paris R, Ribeiro A, de Pontual L, et al. Cholinergic switch associated with morphological differentiation in neuroblastoma. J Pathol. 2009;219:463-72 pubmed publisher..This switch is associated with a down regulation of DBH that is apparently not strictly dependent upon PHOX2B. Conversely, GATA2 and TFAP2B may play critical roles in maintaining adrenergic features in poorly differentiated tumours. ..
- Samy M, Gattolliat C, Pendino F, Hillion J, Nguyen E, Bombard S, et al. Loss of the malignant phenotype of human neuroblastoma cells by a catalytically inactive dominant-negative hTERT mutant. Mol Cancer Ther. 2012;11:2384-93 pubmed publisher..Therefore, our results envision new therapeutic strategies for metastatic neuroblastoma therapeutic management. ..
- Janoueix Lerosey I, Hupe P, Maciorowski Z, La Rosa P, Schleiermacher G, Pierron G, et al. Preferential occurrence of chromosome breakpoints within early replicating regions in neuroblastoma. Cell Cycle. 2005;4:1842-6 pubmed..These results unambiguously establish a link between unbalanced translocations, whose most likely mechanism of occurrence relies on break-induced replication, and early replication of the genome. ..
- Ladenstein R, Potschger U, Pearson A, Brock P, Luksch R, Castel V, et al. Busulfan and melphalan versus carboplatin, etoposide, and melphalan as high-dose chemotherapy for high-risk neuroblastoma (HR-NBL1/SIOPEN): an international, randomised, multi-arm, open-label, phase 3 trial. Lancet Oncol. 2017;18:500-514 pubmed publisher..European Commission 5th Framework Grant and the St Anna Kinderkrebsforschung. ..
- Bernard D, Prasanth K, Tripathi V, Colasse S, Nakamura T, Xuan Z, et al. A long nuclear-retained non-coding RNA regulates synaptogenesis by modulating gene expression. EMBO J. 2010;29:3082-93 pubmed publisher..Our results suggest that Malat1 regulates synapse formation by modulating the expression of genes involved in synapse formation and/or maintenance. ..
- Taga M, Mouton Liger F, Paquet C, Hugon J. Modulation of oxidative stress and tau phosphorylation by the mTOR activator phosphatidic acid in SH-SY5Y cells. FEBS Lett. 2011;585:1801-6 pubmed publisher..These findings reveal that PA, via the mTOR kinase, can trigger tau phosphorylation on a site known to reduce paired helical filament (PHF) formation. ..
- Brisse H, McCarville M, Granata C, Krug K, Wootton Gorges S, Kanegawa K, et al. Guidelines for imaging and staging of neuroblastic tumors: consensus report from the International Neuroblastoma Risk Group Project. Radiology. 2011;261:243-57 pubmed publisher..It is anticipated that the use of standardized nomenclature will contribute substantially to more uniform staging and thereby facilitate comparisons of clinical trials conducted in different parts of the world. ..
- Klijanienko J, Couturier J, Brisse H, Pierron G, Freneaux P, Berger F, et al. Diagnostic and prognostic information obtained on fine-needle aspirates of primary neuroblastic tumors: Proposal for a cytology prognostic score. Cancer Cytopathol. 2011;119:411-23 pubmed publisher..The use of cytological material for diagnosis and prognosis in patients with neuroblastic tumors is poorly described in the literature...
- Monnet C, Marthiens V, Enslen H, Frobert Y, Sobel A, Mège R. Heterogeneity and regulation of cellular prion protein glycoforms in neuronal cell lines. Eur J Neurosci. 2003;18:542-8 pubmed
- Boeva V, Louis Brennetot C, Peltier A, Durand S, Pierre Eugène C, Raynal V, et al. Heterogeneity of neuroblastoma cell identity defined by transcriptional circuitries. Nat Genet. 2017;49:1408-1413 pubmed publisher..Most neuroblastoma primary tumors express TFs from the noradrenergic and NCC-like modules. Our data demonstrate a previously unknown aspect of tumor heterogeneity relevant for neuroblastoma treatment strategies. ..
- Bourdeaut F, de Carli E, Timsit S, Coze C, Chastagner P, Sarnacki S, et al. VIP hypersecretion as primary or secondary syndrome in neuroblastoma: A retrospective study by the Société Française des Cancers de l'Enfant (SFCE). Pediatr Blood Cancer. 2009;52:585-90 pubmed publisher..Twenty children are alive and 13 are disease-free. VIP secreting NTs are usually associated with differentiation; they can also secondarily arise from a high-risk tumor upon treatment. Primary surgery constitutes first-line treatment. ..
- Mathivet T, Mazot P, Vigny M. In contrast to agonist monoclonal antibodies, both C-terminal truncated form and full length form of Pleiotrophin failed to activate vertebrate ALK (anaplastic lymphoma kinase)?. Cell Signal. 2007;19:2434-43 pubmed..15 and Pleiotrophin.18 failed to activate ALK in neuroblastoma and glioblastoma cells expressing this receptor. Thus, for our point of view, ALK is still an orphan receptor in vertebrates. ..
- Ivanova E, Mau Them F, Riazuddin S, Kahrizi K, Laugel V, Schaefer E, et al. Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development. Am J Hum Genet. 2017;101:428-440 pubmed publisher..We propose that mutations in TBC1D23 are responsible for a form of PCH with small, normally proportioned cerebellum and should be screened in individuals with syndromic pontocereballar hypoplasia. ..
- Djabali K, Portier M, Gros F, Blobel G, Georgatos S. Network antibodies identify nuclear lamin B as a physiological attachment site for peripherin intermediate filaments. Cell. 1991;64:109-21 pubmed..These data provide essentially in vivo evidence that lamin B represents a constitutive nuclear "receptor" site for the tail domains of peripherin intermediate filaments. ..