Circulating tumor DNA in diffuse large B-cell lymphoma: analysis of response assessment, correlation with PET/CT and clone evolution.

Introduction: Circulating tumor DNA (ctDNA) can be obtained from cell-free DNA (cfDNA) andis a new technique for genotyping, response assessment and prognosis in lymphoma.

Methods: Eighteen patients with samples at diagnosis (ctDNA1), after treatment (ctDNA2) and extracted from diagnostic tissue (FFPE) were evaluated.

Results: In all patients, at least one mutation in cfDNA was detected at diagnosis.

When karyotype is decisive for myelodysplastic syndromes diagnosis.

Introduction: The myelodysplastic syndromes (MDS) are a group of heterogeneous clonal hematopoietic stem cell disorders that results in peripheral blood (PB) cytopenias and bone marrow (BM) dysplasia. Dysplasia is the hallmark of the disorder, and must exceed the threshold of 10%. Conventional karyotype (KT) has a role in the classification and prognostication of subtypes.

Molecular genetic tests for JAK2V617F, Exon12_JAK2 and MPLW515K/L are highly informative in the evaluation of patients suspected to have BCR-ABL1-negative myeloproliferative neoplasms.

Polycythaemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (MF), are the most common myeloproliferative neoplasms (MPN) in patients without the BCR-ABL1 gene rearrangement. They are caused by clonal expansion of haematopoietic stem cells and share, as a diagnostic criterion, the identification of JAK2V617F mutation. Classically, when other clinical criteria are present, a JAK2V617F negative case requires the analysis of Exon12_JAK2 for the diagnosis of PV, and of MPL515K/L mutations for the diagnosis of ET and MF.