Please use this identifier to cite or link to this item: https://doi.org/10.1186/s13045-017-0434-y
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dc.titleMutational profiling of acute lymphoblastic leukemia with testicular relapse
dc.contributor.authorDing, L.-W
dc.contributor.authorSun, Q.-Y
dc.contributor.authorMayakonda, A
dc.contributor.authorTan, K.-T
dc.contributor.authorChien, W
dc.contributor.authorLin, D.-C
dc.contributor.authorJiang, Y.-Y
dc.contributor.authorXu, L
dc.contributor.authorGarg, M
dc.contributor.authorLao, Z.-T
dc.contributor.authorLill, M.
dc.contributor.authorYang, H
dc.contributor.authorYeoh, A.E.J
dc.contributor.authorKoeffler, H.P
dc.date.accessioned2020-09-01T00:55:39Z
dc.date.available2020-09-01T00:55:39Z
dc.date.issued2017
dc.identifier.citationDing, L.-W, Sun, Q.-Y, Mayakonda, A, Tan, K.-T, Chien, W, Lin, D.-C, Jiang, Y.-Y, Xu, L, Garg, M, Lao, Z.-T, Lill, M., Yang, H, Yeoh, A.E.J, Koeffler, H.P (2017). Mutational profiling of acute lymphoblastic leukemia with testicular relapse. Journal of Hematology and Oncology 10 (1) : 65. ScholarBank@NUS Repository. https://doi.org/10.1186/s13045-017-0434-y
dc.identifier.issn17568722
dc.identifier.urihttps://scholarbank.nus.edu.sg/handle/10635/173793
dc.description.abstractRelapsed acute lymphoblastic leukemia (ALL) is the leading cause of deaths of childhood cancer. Although relapse usually happens in the bone marrow, extramedullary relapse occasionally occurs including either the central nervous system or testis (<1-2%). We selected two pediatric ALL patients who experienced testicular relapse and interrogated their leukemic cells with exome sequencing. The sequencing results and clonality analyses suggest that relapse of patient D483 directly evolved from the leukemic clone at diagnosis which survived chemotherapy. In contrast, relapse leukemia cells (both bone marrow and testis) of patient D727 were likely derived from a common ancestral clone, and testicular relapse likely arose independently from the bone marrow relapsed leukemia. Our findings decipher the mutational spectra and shed light on the clonal evolution of two cases of pediatric ALL with testicular relapse. Presence of CREBBP/NT5C2 mutations suggests that a personalized therapeutic approach should be applied to these two patients. © 2017 The Author(s).
dc.sourceUnpaywall 20200831
dc.subjectcyclic AMP responsive element binding protein binding protein
dc.subjectMADS box transcription enhancer factor 2
dc.subjectmembrane protein
dc.subjectmixed lineage leukemia protein
dc.subjectunclassified drug
dc.subjectacute lymphoblastic leukemia
dc.subjectAIM1 gene
dc.subjectALPK3 gene
dc.subjectArticle
dc.subjectbone marrow metastasis
dc.subjectcancer survival
dc.subjectcarcinogenesis
dc.subjectcase report
dc.subjectchild
dc.subjectclonal evolution
dc.subjectclonal variation
dc.subjectcopy number variation
dc.subjectCREBBP gene
dc.subjectDUSP13 gene
dc.subjectEVX1 gene
dc.subjectfusion gene
dc.subjectgene
dc.subjectgene deletion
dc.subjectgenetic association
dc.subjecthuman
dc.subjecthuman cell
dc.subjectKCNG1 gene
dc.subjectleukemia cell
dc.subjectleukemia relapse
dc.subjectleukemia remission
dc.subjectmale
dc.subjectMEF2B gene
dc.subjectmissense mutation
dc.subjectMLL AF9 fusion gene
dc.subjectmutational analysis
dc.subjectNT5C2 gene
dc.subjectoncogene K ras
dc.subjectOTUD5 gene
dc.subjectpersonalized medicine
dc.subjectPPP1R3B gene
dc.subjectpreschool child
dc.subjecttestis cancer
dc.subjectwhole exome sequencing
dc.subjectacute lymphoblastic leukemia
dc.subjectdna mutational analysis
dc.subjectgenetics
dc.subjectinfant
dc.subjectpathology
dc.subjectrecurrent disease
dc.subjectsecondary
dc.subjecttestis tumor
dc.subjectChild, Preschool
dc.subjectClonal Evolution
dc.subjectDNA Mutational Analysis
dc.subjectHumans
dc.subjectInfant
dc.subjectMale
dc.subjectPrecursor Cell Lymphoblastic Leukemia-Lymphoma
dc.subjectRecurrence
dc.subjectTesticular Neoplasms
dc.typeArticle
dc.contributor.departmentCANCER SCIENCE INSTITUTE OF SINGAPORE
dc.contributor.departmentDUKE-NUS MEDICAL SCHOOL
dc.contributor.departmentDEPT OF PAEDIATRICS
dc.contributor.departmentDEPT OF MEDICINE
dc.description.doi10.1186/s13045-017-0434-y
dc.description.sourcetitleJournal of Hematology and Oncology
dc.description.volume10
dc.description.issue1
dc.description.page65
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