Introduction
Cytogenetic analysis is important for stratifying patients with various neoplasms. We explored the use of targeted next generation sequencing (NGS) in detecting chromosomal structural ...abnormalities or copy number variations (CNVs) in patients with myeloid neoplasms.
Methods
Plasma cell-free DNA (cfDNA) from 2821 myeloid or lymphoid neoplasm patients were collected. cfDNA was sequenced using a 275 gene panel. CNVkit software was used for analyzing and visualizing CNVs. Cytogenetic data from corresponding bone marrow (BM) samples was available on 89 myeloid samples.
Results
Of the 2821 samples, 1539 (54.5%) showed evidence of mutations consistent with the presence of neoplastic clones in circulation. Of these 1539 samples, 906 (59%) showed abnormalities associated with myeloid neoplasms and 633 (41%) with lymphoid neoplasms. Chromosomal structural abnormalities in cfDNA were detected in 146 (16%) myeloid samples and 76 (12%) lymphoid samples. Upon comparison of the myeloid samples with 89 BM patients, NGS testing was able to reliably detect chromosomal gain or loss, except for fusion abnormalities. When cytogenetic abnormalities were classified according to prognostic classes, there was a complete (100%) concordance between cfDNA NGS data and cytogenetic data.
Conclusions
This data shows that liquid biopsy using targeted NGS is reliable in detecting chromosomal structural abnormalities in myeloid neoplasms. In specific circumstances, targeted NGS may be reliable and efficient to provide adequate information without the need for BM biopsy considering broad mutation profiling can be obtained through adequate sequencing within the same test. Overall, this study supports the use of liquid biopsy for early diagnosis and monitoring of patients with myeloid neoplasms.
VIRAL MYOCARDITIS IN THE COVID-19 PANDEMIC Banbury, Zachary; Lofters, Jason; Simmonds, Ro-Kaye ...
Journal of the American College of Cardiology,
05/2021, Letnik:
77, Številka:
18
Journal Article
Introduction: Anal squamous cell carcinoma (ASCC) is an uncommon gastrointestinal cancer that is increasingly curable when diagnosed in early stages. Distant metastases are relatively uncommon. New ...technologies have been introduced for the early detection of disease recurrence across all solid tumors, but their role in ASCC has not been well described. We present a case of isolated metachronous metastasis to the lung from primary ASCC, without primary recurrence and the application of circulating tumor DNA (ctDNA) technology in management.
Case Report: The patient is a 63-year-old female who presented with altered bowel habits, rectal bleeding and was found to have a 3×2 cm mass fixed to the anal sphincter on colonoscopy. Biopsy showed moderately differentiated invasive squamous cell carcinoma. Imaging revealed inguinal lymphadenopathy but was negative for distant metastases. She underwent definitive chemoradiotherapy without complications. Post-treatment surveillance scans were negative for residual disease or distant metastasis. Two years later, positron emission tomography (PET)/computed tomography (CT) scans revealed a 0.5 cm sub-pleural nodule which when repeated three months later grew to 0.7 cm. The nodule was then surgically resected. Histology was positive for metastatic squamous cell carcinoma, similar to the primary tumor. Given the dearth of data related to treatment in the setting of resected isolated metastatic disease we pursued ctDNA testing which was negative. Given this finding along with the clinical presentation, time to metastasis (two years) and absence of other evidence of recurrence we opted to monitor expectantly rather than administer systemic chemotherapy.
Conclusion: Anal squamous cell carcinoma with metachronous distant metastasis is an unusual phenomenon. Treatment with chemotherapy in completely resected metastatic disease is controversial. Use of ctDNA technology may have a role in aiding in this complex decision making.
PDF
