Brain abscesses, neutropenia, and B-ALL: Multiple testing modalities required to confirm PDCD10 and ETV6 dual diagnoses

Recognition of patients with multiple diagnoses, and the unique challenges they pose to clinicians and laboratorians, is increasing rapidly as genome-wide genetic testing grows in prevalence. We describe a unique patient with dual diagnoses of PDCD10-related cerebral cavernous malformations and ETV6...

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Published inCancer genetics Vol. 288-289; pp. 5 - 9
Main Authors Kumar, Runjun D., Vossaert, Liesbeth, Bi, Weimin, Owen, Nichole, Rau, Rachel E., Helber, Hannah L., Sasa, Ghadir, Reuther, Jacquelyn, Roy, Angshumoy, Fisher, Kevin E.
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 01.11.2024
Subjects
Cytopenia
Genetics
Genome
Germline
Lymphoma
Somatic
Genetics
Somatic
Genome
Lymphoma
Cytopenia
Germline
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Summary:Recognition of patients with multiple diagnoses, and the unique challenges they pose to clinicians and laboratorians, is increasing rapidly as genome-wide genetic testing grows in prevalence. We describe a unique patient with dual diagnoses of PDCD10-related cerebral cavernous malformations and ETV6-related thrombocytopenia with associated neutropenia. She presented with brain abscesses as an infant, which is highly atypical for these disorders in isolation. Confirming her diagnoses depended on thorough phenotyping both during and after her acute illness. Furthermore, the causative variant in ETV6 is a novel single-exon deletion that required multiple modalities with manual review to confirm, including unique use of polymorphic nucleotides in trio exome data. She illustrates the special challenges of patients with multiple diagnoses, and the multiple tools clinicians and laboratorians must use to treat them.
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ISSN:2210-7762
DOI:10.1016/j.cancergen.2024.08.001