Cell-free DNA from nail clippings as source of normal control for genomic studies in hematologic malignancies
Haematologica. 2024 Mar 7. doi: 10.3324/haematol.2024.285054. Online ahead of print.ABSTRACTComprehensive genomic sequencing is becoming a critical component in the assessment of hematologic malignancies, with broad implications for patient management. In this context, unequivocally discriminating somatic from germline events is challenging but greatly facilitated by matched analysis of tumor:normal pairs. In contrast to solid tumors, conventional sources of normal control (peripheral blood, buccal swabs, saliva) could be highly involved by the neoplastic process, rendering them unsuitable. In this work we describe our real-world experience using cell free DNA (cfDNA) isolated from nail clippings as an alternate source of normal control, through the dedicated review of 2,610 tumor:nail pairs comprehensively sequenced by MSK-IMPACT-heme. Overall, we find nail cfDNA is a robust source of germline control for paired genomic studies. In a subset of patients, nail DNA may have tumor DNA contamination, reflecting unique attributes of the hematologic disease and transplant history. Contamination is generally low level, but significantly more common among patients with myeloid neoplasms (20.5%; 304/1482) compared to lymphoid diseases (5.4%; 61/1128) and particularly enriched in myeloproliferative neoplasms with marked myelofibrosis. When identified in patients with lymphoid and plasma-cell neoplasms, mutations commonly reflected a myeloid profile and correlated with a concurrent/evol...
Source: Haematologica - Category: Hematology Authors: Melissa Krystel-Whittemore Kseniya Petrova-Drus Ryan N Ptashkin Mark D Ewalt JinJuan Yao Ying Liu Menglei Zhu Jamal Benhamida Benjamin Durham Jyoti Kumar Khedoudja Nafa Iwona Kiecka Anita S Bowman Erika Gedvilaite Jacklyn Casanova Yun-Te Lin Abhinita S Mo Source Type: research
More News: Cancer & Oncology | Hematology | Men | Myeloproliferative Disorders | Stem Cell Therapy | Stem Cells | Study | Transplants