Please use this identifier to cite or link to this item: 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
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