Panagiotis Baliakas – Molecular genetics of hematological malignancies
Our research focuses on genetic characterisation of the cancer forms chronic lymphocytic leukemia and myeloid neoplasms. The goal is to identify strategies to evaluate prognosis, disease course and risk for treatment resistance, which can form the basis for choice of therapy.
Hematological malignancies (HMs) are cancers in the blood, bone marrow or lymph tissues. They occur in several forms such as leukemia and lymphoma and belong to the most common deadly cancer types.
HMs are a typical example where the understanding of the biological mechanisms responsible for disease development and evolution has been translated into development of highly effective targeted therapies, already incorporated in every clinical practice. Nevertheless, the majority of hematological malignancies demonstrate remarkable clinicobiological heterogeneity which makes the task of applying the right treatment to the right patient extremely challenging.
The main goal of our research program is to genetically characterize HMs with the aim to:
- unravel the most relevant biological pathways for the growth and survival of the malignant cells.
- optimize the classification of HMs in an effort to identify subgroups of patients with distinct clinicobiological profiles, setting the grounds for precision medicine.
Our research focuses on chronic lymphocytic leukemia (CLL) and myeloid neoplasms (MNs).
CLL patients can be classified in subgroups
CLL is the most common hematological malignancy amongst elderly in the west. In contrast to the majority of HMs, up to 85 % of newly diagnosed CLL patients do not require immediate treatment. However, 60 % of the patients will need treatment at some point during the disease course.
Over the years, a great number of host- and tumour-related features with prognostic and/or predictive value have been identified. Our group has been pivotal in evaluating the clinical significance of these markers, assisting in the stratification of patients into subgroups with distinct clinical course and response to treatment.
Genetic characterisation of myeloid neoplasms
MNs are a large number of entities where the somatic genomic background is of vital importance not only for diagnosis but also for stratification, treatment choice and follow-up policy.
We focus on genomic characterization of MNs, with the attempt to provide robust prognostic and predictive algorithms and to understand the mechanisms associated with refractoriness to standard treatment. One of our main interests is to elucidate the genomic landscape of MNs with germline predisposition.
Publications
Part of Scientific Reports, 2024
ERIC recommendations for TP53 mutation analysis in chronic lymphocytic leukemia-2024 update
Part of Leukemia, p. 1455-1468, 2024
Part of HemaSphere, 2024
- DOI for How to manage patients with germline DDX41 variants: Recommendations from the Nordic working group on germline predisposition for myeloid neoplasms
- Download full text (pdf) of How to manage patients with germline DDX41 variants: Recommendations from the Nordic working group on germline predisposition for myeloid neoplasms
Part of Journal of Medical Genetics, p. 150-154, 2024
Part of British Journal of Haematology, p. 724-729, 2024
BTK and PLCG2 remain unmutated in one-third of patients with CLL relapsing on ibrutinib
Part of Blood Advances, p. 2794-2806, 2023
Part of Leukemia, p. 339-347, 2023
- DOI for Different prognostic impact of recurrent gene mutations in chronic lymphocytic leukemia depending on IGHV gene somatic hypermutation status: a study by ERIC in HARMONY
- Download full text (pdf) of Different prognostic impact of recurrent gene mutations in chronic lymphocytic leukemia depending on IGHV gene somatic hypermutation status: a study by ERIC in HARMONY
Early response evaluation by single cell signaling profiling in acute myeloid leukemia
Part of Nature Communications, 2023
Part of Human Molecular Genetics, p. 2901-2912, 2023
- DOI for Novel pathological variants of NHP2 affect N-terminal domain flexibility, protein stability, H/ACA Ribonucleoprotein (RNP) complex formation and telomerase activity
- Download full text (pdf) of Novel pathological variants of NHP2 affect N-terminal domain flexibility, protein stability, H/ACA Ribonucleoprotein (RNP) complex formation and telomerase activity
Part of Clinical Cancer Research, p. 2826-2834, 2023
Part of Frontiers in Oncology, 2023
- DOI for T cell receptor gene repertoire profiles in subgroups of patients with chronic lymphocytic leukemia bearing distinct genomic aberrations
- Download full text (pdf) of T cell receptor gene repertoire profiles in subgroups of patients with chronic lymphocytic leukemia bearing distinct genomic aberrations
Part of Genes, Chromosomes and Cancer, p. 672-677, 2023
Part of British Journal of Haematology, p. 103-113, 2022
Cytogenetics in Chronic Lymphocytic Leukemia: ERIC Perspectives and Recommendations
Part of HemaSphere, 2022
Part of Leukemia and Lymphoma, p. 2311-2320, 2022
- DOI for Familial platelet disorder due to germline exonic deletions in RUNX1: a diagnostic challenge with distinct alterations of the transcript isoform equilibrium
- Download full text (pdf) of Familial platelet disorder due to germline exonic deletions in RUNX1: a diagnostic challenge with distinct alterations of the transcript isoform equilibrium
Part of HemaSphere, 2022
- DOI for Five Percent Variant Allele Frequency Is a Reliable Reporting Threshold for TP53 Variants Detected by Next Generation Sequencing in Chronic Lymphocytic Leukemia in the Clinical Setting
- Download full text (pdf) of Five Percent Variant Allele Frequency Is a Reliable Reporting Threshold for TP53 Variants Detected by Next Generation Sequencing in Chronic Lymphocytic Leukemia in the Clinical Setting
Part of British Journal of Haematology, p. 431-441, 2022
Landscape of TP53 Alterations in Chronic Lymphocytic Leukemia via Data Mining Mutation Databases
Part of Frontiers in Oncology, 2022
Loss of Y and clonal hematopoiesis in blood: two sides of the same coin?
Part of Leukemia, p. 889-891, 2022
Biology and Treatment of High-Risk CLL: Significance of Complex Karyotype
Part of Frontiers in Oncology, 2021
Chromosome Y loss and drivers of clonal hematopoiesis in myelodysplastic syndrome
Part of Haematologica, p. 329-331, 2021
Part of Leukemia, p. 3444-3454, 2021
Part of Haematologica, p. 87-97, 2021
Part of Blood, p. 1365-1376, 2021
Part of Blood, p. 1895-1904, 2021
Prognostic and Predictive Implications of Cytogenetics and Genomics
Part of Hematology/Oncology Clinics of North America, p. 703-713, 2021
Clonal hematopoiesis in patients with high-grade B-cell lymphoma is associated with inferior outcome
Part of American Journal of Hematology, 2020
ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants
Part of Blood Advances, p. 2962-2979, 2019
Part of Blood, p. 1205-1216, 2019
Part of Leukemia, p. 1801-1805, 2019
Part of HemaSphere, 2019
- DOI for Nordic Guidelines for Germline Predisposition to Myeloid Neoplasms in Adults: Recommendations for Genetic Diagnosis, Clinical Management and Follow-up
- Download full text (pdf) of Nordic Guidelines for Germline Predisposition to Myeloid Neoplasms in Adults: Recommendations for Genetic Diagnosis, Clinical Management and Follow-up
Part of Haematologica, p. 360-369, 2019
Part of Haematologica, 2018
Novel variants in Nordic patients referred for genetic testing of telomere-related disorders
Part of European Journal of Human Genetics, p. 858-867, 2018
Refractory chronic "ITP": When platelet size matters
Part of Clinical Case Reports, p. 1779-1780, 2018
Part of Clinical Cancer Research, p. 5292-5301, 2017
Part of Leukemia and Lymphoma, p. 65-66, 2017
Part of Haematologica, p. 170-170, 2017
EGR2 mutations define a new clinically aggressive subgroup of chronic lymphocytic leukemia
Part of Leukemia, p. 1547-1554, 2017
Immunoglobulin gene sequence analysis in chronic lymphocytic leukemia: updated ERIC recommendations
Part of Leukemia, p. 1477-1481, 2017
Part of Haematologica, p. 968-971, 2017
Is FCR the treatment of choice for IGHV mutated CLL without poor FISH cytogenetics?
Part of Leukemia and Lymphoma, p. 170-171, 2017
Part of Leukemia and Lymphoma, p. 726-728, 2017
Part of Haematologica, p. 299-302, 2016
Part of Clinical Cancer Research, p. 2032-2040, 2016
Part of Haematologica, 2016
Part of Haematologica, p. 229-230, 2016
Part of Haematologica, p. 959-967, 2016
Part of Haematologica, p. 196-197, 2016
Hypogammaglobulinemia In Chronic Lymphocytic Leukemia: Clinicobiological Associations
Part of Haematologica, p. 438-438, 2016
Part of Oncotarget, p. 80916-80924, 2016
- DOI for Karyotypic complexity rather than chromosome 8 abnormalities aggravates the outcome of chronic lymphocytic leukemia patients with TP53 aberrations
- Download full text (pdf) of Karyotypic complexity rather than chromosome 8 abnormalities aggravates the outcome of chronic lymphocytic leukemia patients with TP53 aberrations
Part of Haematologica, p. 231-231, 2016
Part of Epigenetics, p. 449-455, 2016
Prognostic indices in chronic lymphocytic leukaemia: where do we stand how do we proceed?
Part of Journal of Internal Medicine, p. 347-357, 2016
Part of Oncotarget, p. 35946-35959, 2016
UGT2B17 expression: a novel prognostic marker within IGHV-mutated chronic lymphocytic leukemia?
Part of Haematologica, 2016
Part of Blood, p. 1007-1016, 2016
Part of Haematologica, p. 224-224, 2015
Part of Bioinformatics, p. 3844-3846, 2015
Part of Blood, 2015
Part of Blood, 2015
EGR2 Mutations in Chronic Lymphocytic Leukemia: A New Bad Player
Part of Blood, 2015
EGR2 mutations in chronic lymphocytic leukemiam - a new bad player?
Part of Leukemia and Lymphoma, p. 83-85, 2015
Part of Haematologica, p. 47-48, 2015
Part of Immunogenetics, p. 61-66, 2015
Not all IGHV3-21 chronic lymphocytic leukemias are equal: prognostic considerations
Part of Blood, p. 856-859, 2015
Part of Blood, 2015
Part of Blood, 2015
Prognostic relevance of MYD88 mutations in CLL: the jury is still out
Part of Blood, p. 1043-1044, 2015
Recurrent mutations refine prognosis in chronic lymphocytic leukemia
Part of Leukemia, p. 329-336, 2015
Part of Haematologica, p. 52-52, 2015
Splenic marginal-zone lymphoma: ontogeny and genetics
Part of Leukemia and Lymphoma, p. 301-310, 2015
Part of American Journal of Hematology, p. 249-255, 2014
Part of LANCET HAEMATOLOGY, 2014
Part of Blood, p. 1199-1206, 2014
Cytogenetic Evolution Patterns in Chronic Lymphocytic Leukemia
Part of Haematologica, p. 314-314, 2014
Part of Haematologica, p. 49-49, 2014
Part of Haematologica, p. 48-49, 2014
Stereotyped B-cell receptors in chronic lymphocytic leukemia
Part of Leukemia and Lymphoma, p. 2252-2261, 2014
Part of Blood, 2014
Part of Human Gene Therapy Methods, p. 317-327, 2014
Part of British Journal of Haematology, p. 621-625, 2014
Part of Cancer Genetics, p. 281-283, 2014
Part of Leukemia, p. 2196-2199, 2013
Clonal evolution patterns in high-risk chronic lymphocytic leukemia treated with ibrutinib