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Title of Journal: Hum Genet

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Abbravation: Human Genetics

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Springer Berlin Heidelberg

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DOI

10.1007/978-3-540-85451-7_84

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ISSN

1432-1203

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Juvenile myelomonocytic leukemia due to a germline

Authors: Anand Pathak Alexander Pemov Mary L McMaster Ramita Dewan Sarangan Ravichandran Evgenia Pak Amalia Dutra Hyo Jung Lee Aurelie Vogt Xijun Zhang Meredith Yeager Stacie Anderson Martha Kirby NCI DCEG Cancer Genomics Research Laboratory NCI DCEG Cancer Sequencing Working Group Neil Caporaso Mark H Greene Lynn R Goldin Douglas R Stewart
Publish Date: 2015/05/05
Volume: 134, Issue: 7, Pages: 775-787
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Abstract

Juvenile myelomonocytic leukemia JMML is a pediatric myeloproliferative neoplasm that arises from malignant transformation of the stem cell compartment and results in increased production of myeloid cells Somatic and germline variants in CBL Casitas Blineage lymphoma protooncogene have been associated with JMML We report an incompletely penetrant CBL Y371C mutation discovered by wholeexome sequencing in three individuals with JMML in a large pedigree with 35 years of followup The Y371 residue is highly evolutionarily conserved among CBL orthologs and paralogs In silico bioinformatics prediction programs suggested that the Y371C mutation is highly deleterious Protein structural modeling revealed that the Y371C mutation abrogated the ability of the CBL protein to adopt a conformation that is required for ubiquitination Clinically the three mutationpositive JMML individuals exhibited variable clinical courses in two out of three primary hematologic abnormalities persisted into adulthood with minimal clinical symptoms The penetrance of the CBL Y371C mutation was 30  for JMML and 40  for all leukemia Of the 8 mutation carriers in the family with available photographs only one had significant dysmorphic features we found no evidence of a clinical phenotype consistent with a “CBL syndrome” Although CBL Y371C has been previously reported in familial JMML we are the first group to follow a complete pedigree harboring this mutation for an extended period revealing additional information about this variant’s penetrance function and natural historyAll procedures performed in studies involving human participants were in accordance with ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standardsNCI DCEG Cancer Genomics Research Laboratory Sara Bass Joseph Boland Laurie Burdette Salma Chowdhury Michael Cullen Casey Dagnall Herbert Higson Amy A Hutchinson Kristine Jones Sally Larson Kerrie Lashley Hyo Jung Lee Wen Luo Michael Malasky Michelle Manning Jason Mitchell David Roberson Aurelie Vogt Mingyi Wang Meredith Yeager Xijun ZhangNCI DCEG Cancer Sequencing Working Group Bari Ballew Stephen J Chanock Alisa M Goldstein Allan Hildesheim Nan Hu Maria Teresa Landi Jennifer Loud Phuong L Mai Lisa Mirabello Lindsay Morton Dilys Parry Melissa Rotunno Sharon A Savage Philip R Taylor Geoffrey S Tobias Margaret A Tucker Jeannette Wong Xiaohong R Yang Guoqin Yu

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