Non-invasive Diagnostics and Monitoring of MRD and Clonal Evolution in Waldenström's Macroglobulinemia and in IgM-MGUS

Conditions

Waldenstrom Macroglobulinemia

Keywords

IgM monoclonal gammopathy, Waldenström's Macroglobulinemia, Minimal residual disease, Clonal evolution

Brief summary

Multicenter retrospective and prospective observational study including patients with WM or IgM-MGUS evaluated at the time of diagnosis and during the disease course using highly sensitive techniques.

Detailed description

Multicenter retrospective and prospective observational study including patients with WM or IgM-MGUS evaluated at the time of diagnosis and during the disease course using highly sensitive techniques such as flow cytometry, real time quantitative PCR (RT-qPCR), digital droplet PCR (dd-PCR) and NGS, in order to: evaluate the mutational status on genomic DNA or cell-free DNA and compare the results to assess the most reliable source for mutation studies; perform and compare molecular and flow cytometry analyses on bone marrow, peripheral blood (both analyses), plasma and urine samples (only molecular analysis) to assess the best source for diagnosis and MRD monitoring.

Marzia Varettoni, Silvia Zibellini, Daniela Drandi, Chiara Varraso, Emilia Cappello et al. (27 authors)

Blood2025-11-03

10.1182/blood-2025-5318

Prospective Evaluation of Minimal Residual Disease in Waldenström Macroglobulinemia across Different Tissues and Treatments: Results of the “BIO-WM” Trial of the Fondazione Italiana Linfomi (FIL)

Martina Ferrante, Daniela Drandi, Silvia Zibellini, Luigi Marcheselli, Chiara Varraso et al. (30 authors)

Blood2023-11-022 citations

10.1182/blood-2023-181731

Characterization of B-Cell and Plasma Cell Compartment By Eight-Color Multiparameter Flow Cytometry in Patients with Waldenstrom Macroglobulinemia Prospectively Enrolled in the Fondazione Italiana Linfomi (FIL) BIO-WM Trial

Marzia Varettoni, Simone Ferrero, Cristina Picone, Milena Gilestro, Noemí Puig et al. (29 authors)

Blood2020-11-04

10.1182/blood-2020-137119

Interventions

OTHERMRD and clonal evolution

Patient evaluation at the time of diagnosis and during the disease course using highly sensitive techniques

Study design

Observational model

COHORT

Time perspective

OTHER

Eligibility

Sex/Gender

ALL

Age

18 Years to No maximum

Healthy volunteers

No

Inclusion criteria

* Diagnosis of IgM monoclonal gammopathy of undetermined significance (Ig-MGUS) or Waldenström's Macroglobulinemia (WM) according to criteria established at the second International Workshop on Waldenström's Macroglobulinemia \[1\] * Age ≥ 18 years * Previously untreated patients (only for the prospective cohort) * Symptomatic or asymptomatic disease * Subject understands and voluntarily signs an informed consent form approved by an Independent Ethics Committee (IEC)/Institutional Review Board (IRB)

Exclusion criteria

* Active HBV, HCV or HIV infection (antiHBc+ patients with undetectable HBV-DNA are eligible to the study)

Design outcomes

Primary

Measure	Time frame	Description
Rate of mutation	22 months	To demonstrate that the rate of mutations of MYD88 (L265P) and/or CXCR4 (S338X) detected in peripheral blood and/or urine show a negligible difference with the rate of mutations detected in bone marrow samples (BM, gold standard)

Countries

Italy, Spain

Contacts

PRINCIPAL_INVESTIGATORMarzia Varettoni

Pavia - IRCCS Policlinico S. Matteo di Pavia - Div. di Ematologia

Outcome results

None listed