Non-invasive prenatal test identifies circulating cell-free DNA chromosomal abnormalities derived from clonal hematopoiesis in aggressive hematological malignancies.

Liquid biopsy is a minimally invasive diagnostic tool for identification of tumor-related mutations in circulating cell-free DNA (cfDNA). The aim of this study was to investigate feasibility, sensitivity, and specificity of non-invasive prenatal test (NIPT) for identification of chromosomal abnormalities in cfDNA from a total of 77 consecutive patients with non-Hodgkin B-cell lymphomas, Hodgkin lymphoma (HL), or plasma cell dyscrasia. In this case series, half of patients had at least one alteration, more frequently in chromosome 6 (23.1%), chromosome 9 (20.5%), and chromosomes 3 and 18 (16.7%), with losses of chromosome 6 and gains of chromosome 7 negatively impacting on overall survival (OS), with a 5-year OS of 26.9% and a median OS of 14.6 months, respectively (P = 0.0009 and P = 0.0004). Moreover, B-cell lymphomas had the highest NIPT positivity, especially those with aggressive lymphomas, while patients with plasma cell dyscrasia with extramedullary disease had a higher NIPT positivity compared to conventional cytogenetics analysis and a worse outcome. Therefore, we proposed a NIPT-based liquid biopsy a complementary minimally invasive tool for chromosomal abnormality detection in hematological malignancies. However, prospective studies on larger cohorts are needed to validate clinical utility of NIPT-based liquid biopsy in routinely clinical practice.

Do Distinct Functional Dyspepsia Subtypes Exist in Children?

BACKGROUND AND AIM: Two different subtypes of functional dyspepsia (FD) are recognized in adults: epigastric pain syndrome (EPS) and postprandial distress syndrome (PDS). The aim of the study was to assess the presence of FD subtypes in childhood at diagnosis and to observe changes at follow-up. METHODS: A total of 100 patients with a diagnosis of FD based on pediatric Rome III criteria were consecutively enrolled. FD subtypes were successively classified through adult Rome III classification. Children were revaluated after 6 months of follow-up (T1). RESULTS: At T0, 17 (17%) of 100 patients were classified as EPS, whereas 47 (47%) of 100 patients fulfilled criteria for PDS. In 36 (36%) of 100 children an overlap between the 2 subtypes was identified. Nausea was significantly higher in PDS and overlap groups when compared with EPS (χ = 21.7, P = 0.0001; χ = 20.7, P = 0.0001). Headache was significantly increased in PDS and overlap groups compared with patients with EPS (χ = 9.8, P = 0.001; χ = 13.1, P = 0.0001, respectively). At T1 among children belonging to PDS group at enrolment, 9 of 47 (19.1%) changed to EPS group, and 9 of 47 (19.1%) changed to the overlap group. Five (29.4%) of 17 patients and 2 (11.8%) of 17 children diagnosed as having EPS at T0 switched to PDS and overlap group, respectively. Of the 36 patients with overlap at enrollment, 11 (30.6%) satisfied criteria for PDS, and 7 (19.4%) switched to EPS group. CONCLUSIONS: Two distinct FD subtypes are identifiable in pediatric population. A high percentage of overlap and a variation of subtype over time were found, suggesting a common pathophysiologic mechanism.