Indeterminate measurable residual disease by multiparameter flow cytometry is associated with an intermediate risk of clinical relapse in adult patients with acute leukaemia.

Measurable residual disease (MRD) is useful for prognostication and for monitoring response to treatment in patients with acute leukaemia. MRD by multiparametric flow cytometry (MFC-MRD) utilises the leukaemia-associated immunophenotype (LAIP) and difference from normal (DfN) strategies to identify the leukaemic clone. Difficulties arise when the LAIP overlaps with normal regeneration, there is clonal evolution, or when the abnormal clone population is exceptionally small e.

Measurable Residual Disease (MRD) by Flow Cytometry in Adult B-Acute Lymphoblastic Leukaemia (B-ALL) and Acute Myeloid Leukaemia (AML): Correlation with Molecular MRD Testing and Clinical Outcome at One Year.

Measurable residual disease (MRD) detected by flow cytometry (FC) is well established in paediatric B- lymphoblastic leukaemia (B-ALL) and adult chronic lymphocytic leukaemia (CLL), but its utility in adult B-ALL and adult acute myeloid leukaemia (AML) is less clear. In this prospective MRD study, one of the largest in Australia to date, we examined consecutive bone marrow aspirates from adult participants with B-ALL ( = 47) and AML ( = 87) sent for FC-MRD testing at a quaternary referral hospital in Sydney. FC-MRD results were correlated to corresponding Mol-MRD testing where available and clinical outcomes at three-month intervals over 1 year.

Measurable residual disease in adult acute myeloid leukaemia: evaluation of a multidimensional 'radar' flow cytometric plot analysis method.

Measurable residual disease (MRD) monitoring in acute myeloid leukaemia (AML) is becoming increasingly important and is predominantly performed by multiparameter flow cytometry (MFC) or quantitative polymerase chain reactions (RT-qPCR). We investigated the use of multidimensional plots (MD-MFC) for AML MRD monitoring in an adult cohort. AML MRD was determined using a novel MD-MFC method for 115 MRD samples.

Rapid FISH results within one hour.

This study evaluated a rapid fluorescence in-situ hybridization (FISH) method with a novel 10 min hybridization time to identify the presence of recurrent gene re-arrangements in patients with Haematological malignancies (HMs). A method comparison experimental approach was used to compare this rapid method to the standard method. Hybridization results using the rapid method were comparable to standard methods in terms of result, signal strength and hybridization quality.

Ultra-Sensitive Droplet Digital PCR for the Assessment of Microchimerism in Cellular Therapies.

Current techniques to assess chimerism after hematopoietic stem cell transplantation (HSCT) are limited in both sensitivity and precision. These drawbacks are problematic in the context of cellular therapies that frequently result in microchimerism (donor chimerism <1%). We have developed a highly sensitive droplet digital PCR (ddPCR) assay using commercially available regents with good performance throughout the range of clinically relevant chimerism measurements, including microchimerism.

A retrospective examination of mean relative telomere length in the Tasmanian Familial Hematological Malignancies Study.

Telomere length has a biological link to cancer, with excessive telomere shortening leading to genetic instability and resultant malignant transformation. Telomere length is heritable and genetic variants determining telomere length have been identified. Telomere biology has been implicated in the development of hematological malignancies (HMs), therefore, closer examination of telomere length in HMs may provide further insight into genetic etiology of disease development and support for telomere length as a prognostic factor in HMs.

The Familial Tasmanian Haematological Malignancies Study (FaTHMS): its origins, its history and the phenomenon of anticipation.

We began epidemiological studies of haematological malignancies (lymphomas, leukaemias and related diseases) in Tasmania, the island state of Australia, in 1972. Our work has identified a number of families each containing several cases. In contrast to reports from elsewhere, we recognised familial cases incorporating the range of haematological malignancies, that is, not confined to a single diagnosis.

Anticipation in familial hematologic malignancies.

We describe a collection of 11 families with ≥ 2 generations of family members whose condition has been diagnosed as a hematologic malignancy. In 9 of these families there was a significant decrease in age at diagnosis in each subsequent generation (anticipation). The mean age at diagnosis in the first generation was 67.

Evidence for a common genetic aetiology in high-risk families with multiple haematological malignancy subtypes.

A family history of a haematological malignancy (HM) is known to be a risk factor for HMs. However, collections of large families with multiple cases of varied disease types are relatively rare. We describe a collection of 12 families with dense aggregations of multiple HM subtypes.

Cytogenetic investigations of chronic lymphocytic leukemia.

This study aimed to determine which culture method would yield the highest culture success rate, mitotic index, banding resolution, and abnormality rate in investigation of patients with chronic lymphocytic leukemia (CLL). A range of culture techniques for conventional cytogenetic (CC) analyses was compared: 24-hour unstimulated, 72 hours incubation with additional fetal calf serum, 72 hours stimulation with interleukin 4, 72 hours stimulation with lipopolysaccharide (LPS), 72 hours stimulation with TPA (12-O-tetradecanoylphorbol 13-acetate), and 72 hours stimulation with CpG-oligonucleotide DSP30 + Interleukin-2 (IL-2). CC abnormality rates were also compared to fluorescence in situ hybridization (FISH) results using probes for CLL (LSI D13S319/13q34/CEP 12: LSI ATM/p53).