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Volumn 232, Issue 3, 2014, Pages 300-307

Transactivating mutation of the MYOD1 gene is a frequent event in adult spindle cell rhabdomyosarcoma

Author keywords

bLHL; MYOD1; next generation sequencing; rhabdomyosarcoma; soft tissue tumour; spindle cell; transactivating mutation

Indexed keywords

DESMIN; MITOCHONDRIAL DNA; MYOD1 PROTEIN; MYOGENIC FACTOR; MYOGENIC FACTOR 5; MYOGENIC FACTOR 6; MYOGLOBIN; MYOSIN; NOTCH1 RECEPTOR; UNCLASSIFIED DRUG;

EID: 84892399017     PISSN: 00223417     EISSN: 10969896     Source Type: Journal    
DOI: 10.1002/path.4307     Document Type: Article
Times cited : (96)

References (20)
  • 1
    • 84889880454 scopus 로고    scopus 로고
    • Spindle cell/Sclerosing rhabdomyosarcoma
    • In, Fletcher C.D.M. Bridge J.A. Hogendoorn P.C.W. Mertens F. (eds). IARC: Lyons.
    • Nascimento AF, Barr FG,. Spindle cell/Sclerosing rhabdomyosarcoma. In WHO Classification of Tumours of Soft Tissue and Bone, Fletcher CDM, Bridge JA, Hogendoorn PCW, Mertens F, (eds). IARC: Lyons, 2013; 134-135.
    • (2013) WHO Classification of Tumours of Soft Tissue and Bone , pp. 134-135
    • Nascimento, A.F.1    Barr, F.G.2
  • 2
    • 0036605806 scopus 로고    scopus 로고
    • PAX3-FKHR and PAX7-FKHR gene fusions are prognostic indicators in alveolar rhabdomyosarcoma: A report from the children's oncology group
    • Sorensen PH, Lynch JC, Qualman SJ, et al., PAX3-FKHR and PAX7-FKHR gene fusions are prognostic indicators in alveolar rhabdomyosarcoma: a report from the children's oncology group. J Clin Oncol 2002; 20: 2672-2679.
    • (2002) J Clin Oncol , vol.20 , pp. 2672-2679
    • Sorensen, P.H.1    Lynch, J.C.2    Qualman, S.J.3
  • 3
    • 79957482304 scopus 로고    scopus 로고
    • Developmental origins of fusion-negative rhabdomyosarcomas
    • Kikuchi K, Rubin BP, Keller C,. Developmental origins of fusion-negative rhabdomyosarcomas. Curr Top Dev Biol 2011; 96: 33-56.
    • (2011) Curr Top Dev Biol , vol.96 , pp. 33-56
    • Kikuchi, K.1    Rubin, B.P.2    Keller, C.3
  • 4
    • 84889881617 scopus 로고    scopus 로고
    • Alveolar rhabdomyosarcoma
    • In, Fletcher C.D.M. Bridge J.A. Hogendoorn P.C.W. Mertens F. (eds). IARC: Lion.
    • Parham DM, Barr FG,. Alveolar rhabdomyosarcoma. In WHO Classification of Tumours of Soft Tissue and Bone, Fletcher CDM, Bridge JA, Hogendoorn PCW, Mertens F, (eds). IARC: Lion, 2013; 130-132.
    • (2013) WHO Classification of Tumours of Soft Tissue and Bone , pp. 130-132
    • Parham, D.M.1    Barr, F.G.2
  • 5
    • 77952299529 scopus 로고    scopus 로고
    • Fusion gene-negative alveolar rhabdomyosarcoma is clinically and molecularly indistinguishable from embryonal rhabdomyosarcoma
    • Williamson D, Missiaglia E, de Reynies A, et al., Fusion gene-negative alveolar rhabdomyosarcoma is clinically and molecularly indistinguishable from embryonal rhabdomyosarcoma. J Clin Oncol 2010; 28: 2151-2158.
    • (2010) J Clin Oncol , vol.28 , pp. 2151-2158
    • Williamson, D.1    Missiaglia, E.2    De Reynies, A.3
  • 6
    • 59649085853 scopus 로고    scopus 로고
    • Molecular classification of rhabdomyosarcoma - Genotypic and phenotypic determinants of diagnosis: A report from the Children's Oncology Group
    • Davicioni E, Anderson MJ, Finckenstein FG, et al., Molecular classification of rhabdomyosarcoma-genotypic and phenotypic determinants of diagnosis: a report from the Children's Oncology Group. Am J Pathol 2009; 174: 550-564.
    • (2009) Am J Pathol , vol.174 , pp. 550-564
    • Davicioni, E.1    Anderson, M.J.2    Finckenstein, F.G.3
  • 7
    • 84889881617 scopus 로고    scopus 로고
    • Embryonal rhabdomyosarcoma
    • In, Fletcher C.D.M. Bridge J.A. Hogendoorn P.C.W. Mertens F. (eds). IARC: Lyons.
    • Parham DM, Barr FG,. Embryonal rhabdomyosarcoma. In WHO Classification of Tumours of Soft Tissue and Bone, Fletcher CDM, Bridge JA, Hogendoorn PCW, Mertens F, (eds). IARC: Lyons, 2013; 127-129.
    • (2013) WHO Classification of Tumours of Soft Tissue and Bone , pp. 127-129
    • Parham, D.M.1    Barr, F.G.2
  • 8
    • 84876453998 scopus 로고    scopus 로고
    • Recurrent NCOA2 gene rearrangements in congenital/infantile spindle cell rhabdomyosarcoma
    • Mosquera JM, Sboner A, Zhang L, et al., Recurrent NCOA2 gene rearrangements in congenital/infantile spindle cell rhabdomyosarcoma. Genes Chromosomes Cancer 2013; 52: 538-550.
    • (2013) Genes Chromosomes Cancer , vol.52 , pp. 538-550
    • Mosquera, J.M.1    Sboner, A.2    Zhang, L.3
  • 9
    • 78650793762 scopus 로고    scopus 로고
    • Opening the archives for state of the art tumour genetic research: Sample processing for array-CGH using decalcified, formalin-fixed, paraffin-embedded tissue-derived DNA samples
    • de Jong D, Verbeke SL, Meijer D, et al., Opening the archives for state of the art tumour genetic research: sample processing for array-CGH using decalcified, formalin-fixed, paraffin-embedded tissue-derived DNA samples. BMC Res Notes 2011; 4: 1.
    • (2011) BMC Res Notes , vol.4 , pp. 1
    • De Jong, D.1    Verbeke, S.L.2    Meijer, D.3
  • 10
    • 77955151784 scopus 로고    scopus 로고
    • MutationTaster evaluates disease-causing potential of sequence alterations
    • Schwarz JM, Rodelsperger C, Schuelke M, et al., MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods 2010; 7: 575-576.
    • (2010) Nat Methods , vol.7 , pp. 575-576
    • Schwarz, J.M.1    Rodelsperger, C.2    Schuelke, M.3
  • 11
    • 0026589131 scopus 로고
    • Spindle cell rhabdomyosarcoma. A prognostically favorable variant of rhabdomyosarcoma
    • Cavazzana AO, Schmidt D, Ninfo V, et al., Spindle cell rhabdomyosarcoma. A prognostically favorable variant of rhabdomyosarcoma. Am J Surg Pathol 1992; 16: 229-235.
    • (1992) Am J Surg Pathol , vol.16 , pp. 229-235
    • Cavazzana, A.O.1    Schmidt, D.2    Ninfo, V.3
  • 12
    • 0027478030 scopus 로고
    • Spindle cell variants of embryonal rhabdomyosarcoma in the paratesticular region. A report of the Intergroup Rhabdomyosarcoma Study
    • Leuschner I, Newton WA Jr, Schmidt D, et al., Spindle cell variants of embryonal rhabdomyosarcoma in the paratesticular region. A report of the Intergroup Rhabdomyosarcoma Study. Am J Surg Pathol 1993; 17: 221-230.
    • (1993) Am J Surg Pathol , vol.17 , pp. 221-230
    • Leuschner, I.1    Newton, Jr.W.A.2    Schmidt, D.3
  • 13
    • 0031980570 scopus 로고    scopus 로고
    • Spindle cell rhabdomyosarcoma (so-called) in adults: Report of two cases with emphasis on differential diagnosis
    • Rubin BP, Hasserjian RP, Singer S, et al., Spindle cell rhabdomyosarcoma (so-called) in adults: report of two cases with emphasis on differential diagnosis. Am J Surg Pathol 1998; 22: 459-464.
    • (1998) Am J Surg Pathol , vol.22 , pp. 459-464
    • Rubin, B.P.1    Hasserjian, R.P.2    Singer, S.3
  • 14
  • 15
    • 33750887305 scopus 로고    scopus 로고
    • Spindle cell rhabdomyosarcoma in adults: Clinicopathological and immunohistochemical analysis of seven new cases
    • Mentzel T, Kuhnen C,. Spindle cell rhabdomyosarcoma in adults: clinicopathological and immunohistochemical analysis of seven new cases. Virchows Arch 2006; 449: 554-560.
    • (2006) Virchows Arch , vol.449 , pp. 554-560
    • Mentzel, T.1    Kuhnen, C.2
  • 16
    • 73349096624 scopus 로고    scopus 로고
    • Adult-type rhabdomyosarcoma: Analysis of 57 cases with clinicopathologic description, identification of three morphologic patterns and prognosis
    • Stock N, Chibon F, Binh MB, et al., Adult-type rhabdomyosarcoma: analysis of 57 cases with clinicopathologic description, identification of three morphologic patterns and prognosis. Am J Surg Pathol 2009; 33: 1850-1859.
    • (2009) Am J Surg Pathol , vol.33 , pp. 1850-1859
    • Stock, N.1    Chibon, F.2    Binh, M.B.3
  • 17
    • 0026667715 scopus 로고
    • A point mutation in the MyoD basic domain imparts c-Myc-like properties
    • Van Antwerp ME, Chen DG, Chang C, et al., A point mutation in the MyoD basic domain imparts c-Myc-like properties. Proc Natl Acad Sci USA 1992; 89: 9010-9014.
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 9010-9014
    • Van Antwerp, M.E.1    Chen, D.G.2    Chang, C.3
  • 18
    • 0027972411 scopus 로고
    • Rhabdomyosarcomas do not contain mutations in the DNA binding domains of myogenic transcription factors
    • Anand G, Shapiro DN, Dickman PS, et al., Rhabdomyosarcomas do not contain mutations in the DNA binding domains of myogenic transcription factors. J Clin Invest 1994; 93: 5-9.
    • (1994) J Clin Invest , vol.93 , pp. 5-9
    • Anand, G.1    Shapiro, D.N.2    Dickman, P.S.3
  • 19
    • 0033548489 scopus 로고    scopus 로고
    • Delta-induced Notch signaling mediated by RBP-J inhibits MyoD expression and myogenesis
    • Kuroda K, Tani S, Tamura K, et al., Delta-induced Notch signaling mediated by RBP-J inhibits MyoD expression and myogenesis. J Biol Chem 1999; 274: 7238-7244.
    • (1999) J Biol Chem , vol.274 , pp. 7238-7244
    • Kuroda, K.1    Tani, S.2    Tamura, K.3
  • 20
    • 63049120997 scopus 로고    scopus 로고
    • MyoD and E-protein heterodimers switch rhabdomyosarcoma cells from an arrested myoblast phase to a differentiated state
    • Yang Z, MacQuarrie KL, Analau E, et al., MyoD and E-protein heterodimers switch rhabdomyosarcoma cells from an arrested myoblast phase to a differentiated state. Genes Dev 2009; 23: 694-707.
    • (2009) Genes Dev , vol.23 , pp. 694-707
    • Yang, Z.1    Macquarrie, K.L.2    Analau, E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.