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https://doi.org/10.1186/s13045-017-0434-y
Title: | Mutational profiling of acute lymphoblastic leukemia with testicular relapse | Authors: | Ding, 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 |
Keywords: | cyclic AMP responsive element binding protein binding protein MADS box transcription enhancer factor 2 membrane protein mixed lineage leukemia protein unclassified drug acute lymphoblastic leukemia AIM1 gene ALPK3 gene Article bone marrow metastasis cancer survival carcinogenesis case report child clonal evolution clonal variation copy number variation CREBBP gene DUSP13 gene EVX1 gene fusion gene gene gene deletion genetic association human human cell KCNG1 gene leukemia cell leukemia relapse leukemia remission male MEF2B gene missense mutation MLL AF9 fusion gene mutational analysis NT5C2 gene oncogene K ras OTUD5 gene personalized medicine PPP1R3B gene preschool child testis cancer whole exome sequencing acute lymphoblastic leukemia dna mutational analysis genetics infant pathology recurrent disease secondary testis tumor Child, Preschool Clonal Evolution DNA Mutational Analysis Humans Infant Male Precursor Cell Lymphoblastic Leukemia-Lymphoma Recurrence Testicular Neoplasms |
Issue Date: | 2017 | Citation: | Ding, 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 | Abstract: | Relapsed 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). | Source Title: | Journal of Hematology and Oncology | URI: | https://scholarbank.nus.edu.sg/handle/10635/173793 | ISSN: | 17568722 | DOI: | 10.1186/s13045-017-0434-y |
Appears in Collections: | Staff Publications Elements |
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