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dc.contributor.authorShah, V
dc.contributor.authorBoyd, KD
dc.contributor.authorHoulston, RS
dc.contributor.authorKaiser, MF
dc.date.accessioned2017-11-22T09:32:47Z
dc.date.issued2017-11-06
dc.identifier.citationBMC cancer, 2017, 17 (1), pp. 718 - ?
dc.identifier.issn1471-2407
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/914
dc.identifier.eissn1471-2407
dc.identifier.doi10.1186/s12885-017-3715-5
dc.description.abstractMultiple Myeloma is a cancer of plasma cells associated with significantly reduced survival. Long term survivorship from myeloma is very rare and despite advances in its treatment the disease is generally considered incurable. We report a patient diagnosed with myeloma carrying a germline mutation of a tumour suppressor gene who has effectively been cured.A 36-year-old woman was diagnosed with IgG lambda myeloma in 1985. She was treated with melphalan chemotherapy followed by high-dose melphalan and autologous stem cell rescue and since remained in complete remission despite not having received any additional therapy. After eliciting a prior history of multiple primary melanomas and breast cancer, she was tested for and shown to be a carrier for a germline mutation in CDKN2A.This is the second case report of germline mutation of CDKN2A being associated with myeloma. CDKN2A is a stabiliser of p53. Long term survivorship after high dose DNA damaging chemotherapy with melphalan in this patient is compatible with an increased chemo-sensitivity due to impairment of the DNA repair pathway.
dc.formatElectronic
dc.format.extent718 - ?
dc.languageeng
dc.language.isoeng
dc.rights.urihttps://creativecommons.org/licenses/by/4.0
dc.subjectHumans
dc.subjectMultiple Myeloma
dc.subjectMelphalan
dc.subjectStem Cell Transplantation
dc.subjectTransplantation, Autologous
dc.subjectPedigree
dc.subjectGerm-Line Mutation
dc.subjectAdult
dc.subjectFemale
dc.subjectCyclin-Dependent Kinase Inhibitor p18
dc.subjectSurvivorship
dc.titleConstitutional mutation in CDKN2A is associated with long term survivorship in multiple myeloma: a case report.
dc.typeJournal Article
dcterms.dateAccepted2017-10-30
rioxxterms.versionofrecord10.1186/s12885-017-3715-5
rioxxterms.licenseref.urihttps://creativecommons.org/licenses/by/4.0
rioxxterms.licenseref.startdate2017-11-06
rioxxterms.typeJournal Article/Review
dc.relation.isPartOfBMC cancer
pubs.issue1
pubs.notesNo embargo
pubs.organisational-group/ICR
pubs.organisational-group/ICR/Primary Group
pubs.organisational-group/ICR/Primary Group/ICR Divisions
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Cancer Genomics
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology/Myeloma Group
pubs.organisational-group/ICR/Primary Group/Royal Marsden Clinical Units
pubs.organisational-group/ICR/Students
pubs.organisational-group/ICR/Students/PhD and MPhil
pubs.organisational-group/ICR/Students/PhD and MPhil/16/17 Starting Cohort
pubs.organisational-group/ICR
pubs.organisational-group/ICR/Primary Group
pubs.organisational-group/ICR/Primary Group/ICR Divisions
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Cancer Genomics
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology/Myeloma Group
pubs.organisational-group/ICR/Primary Group/Royal Marsden Clinical Units
pubs.organisational-group/ICR/Students
pubs.organisational-group/ICR/Students/PhD and MPhil
pubs.organisational-group/ICR/Students/PhD and MPhil/16/17 Starting Cohort
pubs.publication-statusPublished
pubs.volume17
pubs.embargo.termsNo embargo
icr.researchteamCancer Genomicsen_US
icr.researchteamMyeloma Groupen_US
dc.contributor.icrauthorHoulston, Richarden
dc.contributor.icrauthorKaiser, Martinen
dc.contributor.icrauthorMarsden,en
dc.contributor.icrauthorShah, Vallarien


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