Correction: Corrigendum: The genomic landscape of juvenile myelomonocytic leukemia

Stieglitz, Elliot; Taylor-Weiner, Amaro; Chang, Tiffany; Gelston, Laura C.; Wang, Yong Dong; Mazor, Tali; Esquivel, Emilio; Yu, Ariel; Seepo, Sara; Olsen, Scott R.; Rosenberg, Mara; Archambeault, Sophie; Abusin, Ghada; Beckman, Kyle; Brown, Patrick; Briones, Michael; Carcamo, Benjamin; Cooper, Todd M.; Dahl, Gary V.; Emanuel, Peter D.; Fluchel, Mark; Goyal, Rakesh; Hayashi, Robert J.; Hugge, Christopher; Liu, Y. Lucy; Messinger, Yoav; Mahoney, Donald H.; Monteleone, Philip; Nemecek, Eneida R.; Roehrs, Philip; Schore, Reuven J.; Stine, Kimo C.; Takemoto, Clifford M.; Toretsky, Jeffrey A.; Costello, J; Olshen, Adam B.; Stewart, Chip; Li, Yongjin; Ma, Jing; Gerbing, Robert B.; Alonzo, Todd A.; Getz, Gad; Grüber, Tanja A.; Golub, Todd R.; Stegmaier, Kimberly; Loh, Mignon L.

doi:10.1038/ng0116-101a

Cited by 5 publications

(3 citation statements)

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“…Disease recurrence was confirmed to be the major cause of treatment failure also in our cohort of children with JMML given HSCT. So far, older age [13,15,18], female sex [13], abnormal karyotype or monosomy 7 [15,16,18], greater number of HLA disparities [14,15], AML-type gene expression signature [32], somatic mutation in PTPN11 [18], secondary mutation [33], and DNA hypermethylation [34] have been reported as risk factors for relapse or EFS after HSCT. Also in our study, older age, abnormal karyotype, or greater number of HLA disparities were correlated with worse outcome after HSCT, but female sex was not.…”

Section: Discussionmentioning

confidence: 99%

Clinical Outcomes after Allogeneic Hematopoietic Stem Cell Transplantation in Children with Juvenile Myelomonocytic Leukemia: A Report from the Japan Society for Hematopoietic Cell Transplantation

Yoshida¹,

Sakaguchi²,

Yabe

et al. 2020

Biology of Blood and Marrow Transplantation

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Hematopoietic stem cell transplantation (HSCT) is the only curative treatment for juvenile myelomonocytic leukemia (JMML), but few large studies of HSCT for JMML exist. Using data from the Japan Society for Hematopoietic Cell Transplantation registry, we analyzed the outcomes of 129 children with JMML who underwent HSCT between 2000 and 2011. The 5-year overall survival (OS) rate and cumulative incidence of relapse were 64% and 34%, respectively. A regimen of busulfan/fludarabine/melphalan was the most commonly used (59 patients) and provided the best outcomes; the 5-year OS rate reached 73%, and the cumulative incidences of relapse and transplantation-related mortality were 26% and 9%, respectively. In contrast, the use of the irradiation-based myeloablative regimen was the most significant risk factor for OS (hazard ratio [HR], 2.92; P = .004) in the multivariate model. In addition, chronic graft-versus-host disease (GVHD) was strongly associated with lower relapse (HR, 0.37; P = .029) and favorable survival (HR, 0.22; P = .006). The current study has shown that a significant proportion of children with JMML can be cured with HSCT, especially those receiving the busulfan/fludarabine/melphalan regimen. Based on the lower relapse and better survival observed in patients with chronic GVHD, additional treatment strategies that focus on enhancing graft-versus-leukemia effects may further improve survival.

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Section: Discussionmentioning

confidence: 99%

Clinical Outcomes after Allogeneic Hematopoietic Stem Cell Transplantation in Children with Juvenile Myelomonocytic Leukemia: A Report from the Japan Society for Hematopoietic Cell Transplantation

Yoshida¹,

Sakaguchi²,

Yabe

et al. 2020

Biology of Blood and Marrow Transplantation

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“…The most common germline mutations in familial leukemia are CEBPA, RUNX1, and GATA2 57 , so far there has been no attempt of reprogramming cells with these mutations. However, iPS cells have been generated from leukemia-causing somatic mutations.…”

Section: Using Ips Cells As a Treatment Option And Model For Childhoomentioning

confidence: 99%

Modeling cancer using patient-derived induced pluripotent stem cells to understand development of childhood malignancies

Navarro

Susanto

Falk

et al. 2018

Cell Death Discovery

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In vitro modeling of complex diseases is now a possibility with the use of patient-derived induced pluripotent stem (iPS) cells. Their stem cell properties, including self-renewal and their potential to virtually differentiate into any cell type, emphasize their importance as a translational tool for modeling disorders that so far have been limited by the unavailability of primary cell lines, animal models, or inaccessible human materials. Around 100 genes with germline mutations have been described to be responsible for cancer predisposition. Familial cancers are usually diagnosed earlier in life since these patients already carry the first transforming hit. Deriving iPS cells from patients suffering from familial cancers provides a valuable tool for understanding the mechanisms underlying pediatric cancer onset and progression since they require less mutation recurrence than adult cancers to develop. At the same time, some familial mutations are found in sporadic cases and are a valuable prognostic tool. Patient-derived iPS cells from germline malignancies can also create new tools in developing specific drugs with more personalized-therapy strategies.

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“…Some mutations in the RAS-MAPK pathway genes can occur in the germline and these patients are at risk for JMML-like myeloproliferations. JMML patients without RAS mutations may have mutations in ASXL1, SETBP1, RUNX1, JAK3 , and SH2B3 ( 46 , 47 ), all of which have also been observed as secondary mutations in RAS-mediated JMML ( 46 ). In the 2016 WHO classification, the RAS-pathway mutations are among the diagnostic criteria for JMML ( 25 ).…”

Section: Clinical Utility Of Genomic Analysis In Leukemiamentioning

confidence: 99%

Clinical Impact of Genomic Information in Pediatric Leukemia

Lalonde

Wertheim

2017

Front. Pediatr.

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Pediatric leukemia remains a significant contributor to childhood lethality rates. However, recent development of new technologies including next-generation sequencing (NGS) has increased our understanding of the biological and genetic underpinnings of leukemia, resulting in novel diagnostic and treatment paradigms. The most prevalent pediatric leukemias include B-cell acute lymphoblastic leukemia (B-ALL) and acute myeloid leukemia (AML). These leukemias are highly heterogeneous, both clinically and genetically. There are multiple genetic subgroups defined by the World Health Organization, each with distinct clinical management. Clinical laboratories have started adopting genomic testing strategies to include high-throughput sequencing assays which, together with conventional cytogenetic techniques, enable optimal patient care. This review summarizes genetic and genomic techniques used in clinical laboratories to support management of pediatric leukemia, highlighting technical, biological, and clinical advances. We illustrate clinical utilities of comprehensive genomic evaluation of leukemia genomes through clinical case examples, which includes the interrogations of hundreds of genes and multiple mutation mechanisms using NGS technologies. Finally, we provide a future perspective on clinical genomics and precision medicine.

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Correction: Corrigendum: The genomic landscape of juvenile myelomonocytic leukemia

Cited by 5 publications

References 1 publication

Clinical Outcomes after Allogeneic Hematopoietic Stem Cell Transplantation in Children with Juvenile Myelomonocytic Leukemia: A Report from the Japan Society for Hematopoietic Cell Transplantation

Clinical Outcomes after Allogeneic Hematopoietic Stem Cell Transplantation in Children with Juvenile Myelomonocytic Leukemia: A Report from the Japan Society for Hematopoietic Cell Transplantation

Modeling cancer using patient-derived induced pluripotent stem cells to understand development of childhood malignancies

Clinical Impact of Genomic Information in Pediatric Leukemia

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