Exploring the genetic and epigenetic origins of juvenile myelomonocytic leukemia using newborn screening samples

Astrid Behnert^#¹, Julia Meyer^#¹, Jahan-Yar Parsa², Aaron Hechmer³, Mignon L Loh^{1

4}, Adam Olshen^{3

4}, Adam J de Smith⁵, Elliot Stieglitz^{6

7}

Affiliations

¹ Department of Pediatrics, Benioff Children's Hospital, University of California, San Francisco, San Francisco, CA, USA.
² Tecan Genomics Inc, Redwood City, CA, USA.
³ Department of Epidemiology and Biostatistics, University of California, San Francisco, San Francisco, CA, USA.
⁴ Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, CA, USA.
⁵ Center for Genetic Epidemiology, University of Southern California, Los Angeles, CA, USA.
⁶ Department of Pediatrics, Benioff Children's Hospital, University of California, San Francisco, San Francisco, CA, USA. elliot.stieglitz@ucsf.edu.
⁷ Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, CA, USA. elliot.stieglitz@ucsf.edu.

^# Contributed equally.

PMID: 34183765
PMCID: PMC8720242
DOI: 10.1038/s41375-021-01331-0

Exploring the genetic and epigenetic origins of juvenile myelomonocytic leukemia using newborn screening samples

Astrid Behnert et al. Leukemia. 2022 Jan.

. 2022 Jan;36(1):279-282.

doi: 10.1038/s41375-021-01331-0. Epub 2021 Jun 28.

Authors

Astrid Behnert^#¹, Julia Meyer^#¹, Jahan-Yar Parsa², Aaron Hechmer³, Mignon L Loh^{1

4}, Adam Olshen^{3

4}, Adam J de Smith⁵, Elliot Stieglitz^{6

7}

Affiliations

¹ Department of Pediatrics, Benioff Children's Hospital, University of California, San Francisco, San Francisco, CA, USA.
² Tecan Genomics Inc, Redwood City, CA, USA.
³ Department of Epidemiology and Biostatistics, University of California, San Francisco, San Francisco, CA, USA.
⁴ Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, CA, USA.
⁵ Center for Genetic Epidemiology, University of Southern California, Los Angeles, CA, USA.
⁶ Department of Pediatrics, Benioff Children's Hospital, University of California, San Francisco, San Francisco, CA, USA. elliot.stieglitz@ucsf.edu.
⁷ Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, CA, USA. elliot.stieglitz@ucsf.edu.

^# Contributed equally.

PMID: 34183765
PMCID: PMC8720242
DOI: 10.1038/s41375-021-01331-0

No abstract available

PubMed Disclaimer

Conflict of interest statement

Jahan-Yar Parsa is an employee of Tecan Genomics, Inc.

Figures

**Fig. 1. Newborn blood spot cards display a low DNA methylation signature.**
A JMML NBS or control NBS samples profiled by MethylSeq classified according to the international JMML methylation consensus signature [12]. B Methylation status at diagnosis of patients (n = 16) reported in this study. *Panel A and B* Heatmaps show the beta values of 1386 CpG loci used for methylation classification.

**Fig. 2. Genetic mutations precede changes in DNA methylation.**
Genetic and methylation profiling of paired NBS and diagnostic samples from JMML patients are displayed. The star indicates the NBS sample of the pair.

See this image and copyright information in PMC

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References

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Exploring the genetic and epigenetic origins of juvenile myelomonocytic leukemia using newborn screening samples

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Exploring the genetic and epigenetic origins of juvenile myelomonocytic leukemia using newborn screening samples

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