Predisposition to childhood acute lymphoblastic leukemia caused by a constitutional translocation disrupting ETV6

Autor: Tekla Järviaho, Benedicte Bang, Vasilios Zachariadis, Fulya Taylan, Jukka Moilanen, Merja Möttönen, C.I. Edvard Smith, Arja Harila-Saari, Riitta Niinimäki, Ann Nordgren

Publikováno v: Blood Advances, Vol 3, Iss 18, Pp 2722-2731 (2019)

Pathogenic germline variants in ETV6 have been associated with familial predisposition to thrombocytopenia and hematological malignancies, predominantly childhood B-cell precursor acute lymphoblastic leukemia (BCP-ALL). In addition, overrepresentatio

Externí odkaz: https://doaj.org/article/b83f8f0bce164e16b7b1d2a0966f7ea8

A somatic UBA2 variant preceded ETV6-RUNX1 in the concordant BCP-ALL of monozygotic twins

Autor: Benedicte, Bang, Jesper, Eisfeldt, Gisela, Barbany, Arja, Harila-Saari, Mats, Heyman, Vasilios, Zachariadis, Fulya, Taylan, Ann, Nordgren

Publikováno v: Blood advances. 6(7)

Genetic analysis of leukemic clones in monozygotic twins with concordant acute lymphoblastic leukemia (ALL) has proved a unique opportunity to gain insight into the molecular phylogenetics of leukemogenesis. Using whole-genome sequencing, we characte

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c17de224b5dabba5d28009bfac6d0ab8
https://pubmed.ncbi.nlm.nih.gov/34982829

Microdeletion of 7p12.1p13, including IKZF 1 , causes intellectual impairment, overgrowth, and susceptibility to leukaemia

Autor: Arja Harila-Saari, Ann Nordgren, Samuel C. C. Chiang, Vasilios Zachariadis, Merja Möttönen, Bianca Tesi, Johanna Uusimaa, Fulya Taylan, Tekla Järviaho, Yenan T. Bryceson, Benedicte Bang, Elisa Rahikkala, Riitta Niinimäki

Publikováno v: British Journal of Haematology. 185:354-357

Microdeletion of 7p12.1p13, including IKZF1, causes intellectual impairment, overgrowth, and susceptibility to leukaemia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::878a642cec88721a8c8c2c637ca78055
https://doi.org/10.1111/bjh.15494

Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D

Autor: Tore Stokland, Magnus Sabel, Benedicte Bang, Henrik Hasle, Steen Rosthøj, Miriam Entesarian, Edvard Nordenskjöld, Samuel C. C. Chiang, Magnus Nordenskjöld, Toivo T. Salmi, Caroline Björklund, Britt-Marie Holmqvist, Ljubica Rajić, Hans-Gustaf Ljunggren, Marie Meeths, Janez Jazbec, Jacek Winiarski, Yenan T. Bryceson, Susan Pfeifer, Bengt Fadeel, Stephanie M. Wood, Heinrich Schlums, Gordana Jakovljević, Jan-Inge Henter

Publikováno v: Meeths, M, Chiang, S C C, Wood, S M, Entesarian, M, Schlums, H, Bang, B, Nordenskjöld, E, Björklund, C, Jakovljevic, G, Jazbec, J, Hasle, H, Holmqvist, B-M, Rajic, L, Pfeifer, S, Rosthøj, S, Sabel, M, Salmi, T T, Stokland, T, Winiarski, J, Ljunggren, H-G, Fadeel, B, Nordenskjöld, M, Henter, J-I & Bryceson, Y T 2011, ' Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D ', Blood, vol. 118, no. 22, pp. 5783-93 . https://doi.org/10.1182/blood-2011-07-369090

Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal recessive, often-fatal hyperinflammatory disorder. Mutations in PRF1, UNC13D, STX11, and STXBP2 are causative of FHL2, 3, 4, and 5, respectively. In a majority of suspected FHL patient

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8deff69498b544057c93df23874e513d
https://doi.org/10.1182/blood-2011-07-369090