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Article ; Online: Clonal heterogeneity and genomic evolution in intrachromosomal amplification of chromosome 21: A case report.

Hidalgo-Gómez, Gloria / Minguela, Alfredo / Tazón-Vega, Bárbara / Ribera, Jordi / Galián, José Antonio / Martínez-Banaclocha, Helios / García-Garay, María / Velasco, Pablo / Fuster-Soler, José Luis / Armengol, Gemma / Ortega, Margarita

British journal of haematology

2024

Language	English
Publishing date	2024-04-26
Publishing country	England
Document type	Letter
ZDB-ID	80077-6
ISSN	1365-2141 ; 0007-1048
ISSN (online)	1365-2141
ISSN	0007-1048
DOI	10.1111/bjh.19485
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Article ; Online: DNMT3A/TET2/ASXL1 Mutations are an Age-independent Thrombotic Risk Factor in Polycythemia Vera Patients: An Observational Study.

Segura-Díaz, Adrián / Stuckey, Ruth / Florido, Yanira / Sobas, Marta / Álvarez-Larrán, Alberto / Ferrer-Marín, Francisca / Pérez-Encinas, Manuel / Carreño-Tarragona, Gonzalo / Fox, María L / Tazón Vega, Barbara / Cuevas, Beatriz / López Rodríguez, Juan F / Sánchez-Farías, Nuria / González-Martín, Jesús M / Gómez-Casares, María T / Bilbao-Sieyro, Cristina

Thrombosis and haemostasis

2024

Abstract: Background: Polycythemia vera (PV) patients are classified as high or low thrombotic risk based on age and prior history of thrombosis. Despite adherence to treatment recommendations, vascular events remain frequent, leading us to question whether ... ...

Abstract	Background: Polycythemia vera (PV) patients are classified as high or low thrombotic risk based on age and prior history of thrombosis. Despite adherence to treatment recommendations, vascular events remain frequent, leading us to question whether thrombotic risk stratification could be improved. We previously reported an association between thrombotic events and mutations in DTA genes ( Methods: PV patients with a minimum follow-up of 3 years were recruited from 8 European centers. Medical history was searched for thrombotic event recorded at any time and next-generation sequencing carried out with a myeloid panel. Multivariable logistic regression evaluated the impact of variables on thrombotic risk. Kaplan-Meier thrombosis-free survival curves were compared by the log rank test. Associations in the total cohort were confirmed in a case-control study to exclude selection bias. Results: Of the 136 patients recruited, 74 (56.1%) had a thrombotic event, with an incidence density of 2.83/100 person-years. In multivariable analysis, DTA mutation was a risk factor for thrombotic event, being predictive for shorter thrombosis-free survival in the whole cohort ( Conclusion: Our results support the use of molecular testing at diagnosis to help predict which PV patients are at higher risk of developing thrombosis.
Language	English
Publishing date	2024-01-30
Publishing country	Germany
Document type	Journal Article
ZDB-ID	518294-3
ISSN	2567-689X ; 0340-6245
ISSN (online)	2567-689X
ISSN	0340-6245
DOI	10.1055/a-2239-9265
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Article ; Online: Germline assessment for alloHSCT candidates over 50 years: A 'Fast-Track' screening in myeloid neoplasms.

British journal of haematology

2024

Abstract: Patients aged 50 or above diagnosed with myeloid neoplasms (MNs) are typically not candidates for germline testing. However, approximately 8% carry pathogenic germline variants. Allogeneic haematopoietic stem cell transplantation (alloHSCT) remains an ... ...

Abstract	Patients aged 50 or above diagnosed with myeloid neoplasms (MNs) are typically not candidates for germline testing. However, approximately 8% carry pathogenic germline variants. Allogeneic haematopoietic stem cell transplantation (alloHSCT) remains an option for those aged over 50; neglecting germline testing could mask the risk for relative donor cell-derived MN. We propose a germline-augmented somatic panel (GASP), combining MN predisposition genes with a myeloid somatic panel for timely germline variant identification when initial testing is not indicated. Out of our 133 whole-exome-sequenced MN cases aged over 50 years, 9% had pathogenic/likely variants. GASP detected 92%, compared to 50% with somatic-only panel. Our study highlights the relevance of germline screening in MN, particularly for alloHSCT candidates without established germline-testing recommendations.
Language	English
Publishing date	2024-04-19
Publishing country	England
Document type	Journal Article
ZDB-ID	80077-6
ISSN	1365-2141 ; 0007-1048
ISSN (online)	1365-2141
ISSN	0007-1048
DOI	10.1111/bjh.19460
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Article ; Online: A gene expression assay based on chronic lymphocytic leukemia activation in the microenvironment to predict progression.

Abrisqueta, Pau / Medina, Daniel / Villacampa, Guillermo / Lu, Junyan / Alcoceba, Miguel / Carabia, Julia / Boix, Joan / Tazón-Vega, Barbara / Iacoboni, Gloria / Bobillo, Sabela / Marín-Niebla, Ana / González, Marcos / Zenz, Thorsten / Crespo, Marta / Bosch, Francesc

Blood advances

2022 Volume 6, Issue 21, Page(s) 5763–5773

Abstract: Several gene expression profiles with a strong correlation with patient outcomes have been previously described in chronic lymphocytic leukemia (CLL), although their applicability as biomarkers in clinical practice has been particularly limited. Here we ... ...

Abstract	Several gene expression profiles with a strong correlation with patient outcomes have been previously described in chronic lymphocytic leukemia (CLL), although their applicability as biomarkers in clinical practice has been particularly limited. Here we describe the training and validation of a gene expression signature for predicting early progression in patients with CLL based on the analysis of 200 genes related to microenvironment signaling on the NanoString platform. In the training cohort (n = 154), the CLL15 assay containing a 15-gene signature was associated with the time to first treatment (TtFT) (hazard ratio [HR], 2.83; 95% CI, 2.17-3.68; P < .001). The prognostic value of the CLL15 score (HR, 1.71; 95% CI, 1.15-2.52; P = .007) was further confirmed in an external independent validation cohort (n = 112). Notably, the CLL15 score improved the prognostic capacity over IGHV mutational status and the International Prognostic Score for asymptomatic early-stage (IPS-E) CLL. In multivariate analysis, the CLL15 score (HR, 1.83; 95% CI, 1.32-2.56; P < .001) and the IPS-E CLL (HR, 2.23; 95% CI, 1.59-3.12; P < .001) were independently associated with TtFT. The newly developed and validated CLL15 assay successfully translated previous gene signatures such as the microenvironment signaling into a new gene expression-based assay with prognostic implications in CLL.
MeSH term(s)	Humans ; Leukemia, Lymphocytic, Chronic, B-Cell/diagnosis ; Leukemia, Lymphocytic, Chronic, B-Cell/genetics ; Leukemia, Lymphocytic, Chronic, B-Cell/therapy ; Prognosis ; Mutation ; Proportional Hazards Models ; Transcriptome ; Tumor Microenvironment/genetics
Language	English
Publishing date	2022-08-13
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2915908-8
ISSN	2473-9537 ; 2473-9529
ISSN (online)	2473-9537
ISSN	2473-9529
DOI	10.1182/bloodadvances.2022007508
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Article ; Online: Is acute lymphoblastic leukemia with mature B-cell phenotype and

Hidalgo-Gómez, Gloria / Palacio-Garcia, Carlos / Gallur, Laura / Blanco, Adoración / Tazón-Vega, Bárbara / Saumell, Silvia / Martínez, Noemí / Murillo, Laura / Murciano, Thais / Velasco, Pablo / Bosch, Francesc / Diaz-Heredia, Cristina / Ortega, Margarita

Leukemia & lymphoma

2021 Volume 62, Issue 9, Page(s) 2202–2210

Abstract: The association between mature B-cell phenotype ... ...

Abstract	The association between mature B-cell phenotype and
MeSH term(s)	B-Lymphocytes ; Humans ; Infant ; Phenotype ; Precursor Cell Lymphoblastic Leukemia-Lymphoma
Language	English
Publishing date	2021-04-07
Publishing country	United States
Document type	Journal Article ; Meta-Analysis ; Research Support, Non-U.S. Gov't ; Systematic Review
ZDB-ID	1042374-6
ISSN	1029-2403 ; 1042-8194
ISSN (online)	1029-2403
ISSN	1042-8194
DOI	10.1080/10428194.2021.1907375
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Article ; Online: Variant t(11;22)(q13;q11.2) with

Cabirta, Alba / Hidalgo-Gómez, Gloria / Marín-Niebla, Ana / Gallur, Laura / Saumell, Silvia / Castellví, Josep / Catalá, Eva / Blanco, Adoración / López-Andreoni, Laura / Montoro, María Julia / Navarrete, Mayda / Palacio-García, Carlos / Tazón-Vega, Bárbara / Bobillo, Sabela / Bosch, Francesc / Ortega, Margarita

Leukemia & lymphoma

2022 Volume 63, Issue 7, Page(s) 1746–1749

MeSH term(s)	Adult ; Chromosomes, Human, Pair 14/genetics ; Humans ; In Situ Hybridization, Fluorescence ; Lymphoma, Mantle-Cell/diagnosis ; Lymphoma, Mantle-Cell/genetics ; Lymphoma, Mantle-Cell/pathology ; Translocation, Genetic
Language	English
Publishing date	2022-02-07
Publishing country	United States
Document type	Letter
ZDB-ID	1042374-6
ISSN	1029-2403 ; 1042-8194
ISSN (online)	1029-2403
ISSN	1042-8194
DOI	10.1080/10428194.2022.2034158
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Article: DNMT3A/TET2/ASXL1 Mutations are an Age-independent Thrombotic Risk Factor in Polycythemia Vera Patients: An Observational Study

Segura-Díaz, Adrián / Stuckey, Ruth / Florido, Yanira / Sobas, Marta / Álvarez-Larrán, Alberto / Ferrer-Marín, Francisca / Pérez-Encinas, Manuel / Carreño-Tarragona, Gonzalo / Fox, María L. / Tazón Vega, Barbara / Cuevas, Beatriz / López Rodríguez, Juan F. / Sánchez-Farías, Nuria / González-Martín, Jesús M. / Gómez-Casares, María T. / Bilbao-Sieyro, Cristina

Thrombosis and Haemostasis

2024

Abstract	Background: Polycythemia vera (PV) patients are classified as high or low thrombotic risk based on age and prior history of thrombosis. Despite adherence to treatment recommendations, vascular events remain frequent, leading us to question whether thrombotic risk stratification could be improved. We previously reported an association between thrombotic events and mutations in DTA genes ( DNMT3A, TET2, and ASXL1 ). The objective of this study was to confirm this observation in a larger series of PV patients. Methods: PV patients with a minimum follow-up of 3 years were recruited from 8 European centers. Medical history was searched for thrombotic event recorded at any time and next-generation sequencing carried out with a myeloid panel. Multivariable logistic regression evaluated the impact of variables on thrombotic risk. Kaplan–Meier thrombosis-free survival curves were compared by the log rank test. Associations in the total cohort were confirmed in a case–control study to exclude selection bias. Results: Of the 136 patients recruited, 74 (56.1%) had a thrombotic event, with an incidence density of 2.83/100 person-years. In multivariable analysis, DTA mutation was a risk factor for thrombotic event, being predictive for shorter thrombosis-free survival in the whole cohort ( p = 0.007), as well as in low-risk patients ( p = 0.039) and older patients ( p = 0.009), but not for patients with a prediagnostic event. A gender- and age-matched case–control study confirmed the increased risk of thrombotic event for PV patients with a DTA mutation. Conclusion: Our results support the use of molecular testing at diagnosis to help predict which PV patients are at higher risk of developing thrombosis.
Keywords	myeloproliferative neoplasm ; cardiovascular event ; next-generation sequencing ; prognosis ; CHIP
Language	English
Publishing date	2024-01-08
Publisher	Georg Thieme Verlag KG
Publishing place	Stuttgart ; New York
Document type	Article
ZDB-ID	518294-3
ISSN	2567-689X ; 0340-6245
ISSN (online)	2567-689X
ISSN	0340-6245
DOI	10.1055/a-2239-9265
Database	Thieme publisher's database

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Article: Immunological and genetic kinetics from diagnosis to clinical progression in chronic lymphocytic leukemia.

Jiménez, Isabel / Tazón-Vega, Bárbara / Abrisqueta, Pau / Nieto, Juan C / Bobillo, Sabela / Palacio-García, Carles / Carabia, Júlia / Valdés-Mas, Rafael / Munuera, Magdalena / Puigdefàbregas, Lluís / Parra, Genís / Esteve-Codina, Anna / Franco-Jarava, Clara / Iacoboni, Gloria / Terol, María José / García-Marco, José Antonio / Crespo, Marta / Bosch, Francesc

Biomarker research

2021 Volume 9, Issue 1, Page(s) 37

Abstract: Background: Mechanisms driving the progression of chronic lymphocytic leukemia (CLL) from its early stages are not fully understood. The acquisition of molecular changes at the time of progression has been observed in a small fraction of patients, ... ...

Abstract	Background: Mechanisms driving the progression of chronic lymphocytic leukemia (CLL) from its early stages are not fully understood. The acquisition of molecular changes at the time of progression has been observed in a small fraction of patients, suggesting that CLL progression is not mainly driven by dynamic clonal evolution. In order to shed light on mechanisms that lead to CLL progression, we investigated longitudinal changes in both the genetic and immunological scenarios. Methods: We performed genetic and immunological longitudinal analysis using paired primary samples from untreated CLL patients that underwent clinical progression (sampling at diagnosis and progression) and from patients with stable disease (sampling at diagnosis and at long-term asymptomatic follow-up). Results: Molecular analysis showed limited and non-recurrent molecular changes at progression, indicating that clonal evolution is not the main driver of clinical progression. Our analysis of the immune kinetics found an increasingly dysfunctional CD8 Conclusions: Altogether, we demonstrate that the interaction with the immune microenvironment plays a key role in clinical progression in CLL, thereby providing a rationale for the use of early immunotherapeutic intervention.
Language	English
Publishing date	2021-05-20
Publishing country	England
Document type	Journal Article
ZDB-ID	2699926-2
ISSN	2050-7771
ISSN	2050-7771
DOI	10.1186/s40364-021-00290-z
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Article: Usefulness of NGS for Diagnosis of Dominant Beta-Thalassemia and Unstable Hemoglobinopathies in Five Clinical Cases.

Rizzuto, Valeria / Koopmann, Tamara T / Blanco-Álvarez, Adoración / Tazón-Vega, Barbara / Idrizovic, Amira / Díaz de Heredia, Cristina / Del Orbe, Rafael / Pampliega, Miriam Vara / Velasco, Pablo / Beneitez, David / Santen, Gijs W E / Waisfisz, Quinten / Elting, Mariet / Smiers, Frans J W / de Pagter, Anne J / Kerkhoffs, Jean-Louis H / Harteveld, Cornelis L / Mañú-Pereira, Maria Del Mar

Frontiers in physiology

2021 Volume 12, Page(s) 628236

Abstract: Unstable hemoglobinopathies (UHs) are rare anemia disorders (RADs) characterized by abnormal hemoglobin (Hb) variants with decreased stability. UHs are therefore easily precipitating, causing hemolysis and, in some cases, leading to dominant beta- ... ...

Abstract	Unstable hemoglobinopathies (UHs) are rare anemia disorders (RADs) characterized by abnormal hemoglobin (Hb) variants with decreased stability. UHs are therefore easily precipitating, causing hemolysis and, in some cases, leading to dominant beta-thalassemia (dBTHAL). The clinical picture of UHs is highly heterogeneous, inheritance pattern is dominant, instead of recessive as in more prevalent major Hb syndromes, and may occur
Language	English
Publishing date	2021-02-05
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2564217-0
ISSN	1664-042X
ISSN	1664-042X
DOI	10.3389/fphys.2021.628236
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Article ; Online: Cell free circulating tumor DNA in cerebrospinal fluid detects and monitors central nervous system involvement of B-cell lymphomas.

Haematologica

2021 Volume 106, Issue 2, Page(s) 513–521

Abstract: The levels of cell free circulating tumor DNA (ctDNA) in plasma correlated with treatment response and outcome in systemic lymphomas. Notably, in brain tumors, the levels of ctDNA in the cerebrospinal fluid (CSF) are higher than in plasma. Nevertheless, ... ...

Abstract	The levels of cell free circulating tumor DNA (ctDNA) in plasma correlated with treatment response and outcome in systemic lymphomas. Notably, in brain tumors, the levels of ctDNA in the cerebrospinal fluid (CSF) are higher than in plasma. Nevertheless, their role in central nervous system (CNS) lymphomas remains elusive. We evaluated the CSF and plasma from 19 patients: 6 restricted CNS lymphomas, 1 systemic and CNS lymphoma, and 12 systemic lymphomas. We performed whole exome sequencing or targeted sequencing to identify somatic mutations of the primary tumor, then variant-specific droplet digital PCR was designed for each mutation. At time of enrolment, we found ctDNA in the CSF of all patients with restricted CNS lymphoma but not in patients with systemic lymphoma without CNS involvement. Conversely, plasma ctDNA was detected in only 2/6 patients with restricted CNS lymphoma with lower variant allele frequencies than CSF ctDNA. Moreover, we detected CSF ctDNA in 1 patient with CNS lymphoma in complete remission and in 1 patient with systemic lymphoma, 3 and 8 months before CNS relapse was confirmed; indicating CSF ctDNA might detect CNS relapse earlier than conventional methods. Finally, in 2 cases with CNS lymphoma, CSF ctDNA was still detected after treatment even though a complete decrease in CSF tumor cells was observed by flow cytometry (FC), indicating CSF ctDNA better detected residual disease than FC. In conclusion, CSF ctDNA can better detect CNS lesions than plasma ctDNA and FC. In addition, CSF ctDNA predicted CNS relapse in CNS and systemic lymphomas.
MeSH term(s)	Biomarkers, Tumor/genetics ; Central Nervous System ; Circulating Tumor DNA/genetics ; Humans ; Lymphoma, B-Cell ; Neoplasm Recurrence, Local
Chemical Substances	Biomarkers, Tumor ; Circulating Tumor DNA
Language	English
Publishing date	2021-02-01
Publishing country	Italy
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2333-4
ISSN	1592-8721 ; 0017-6567 ; 0390-6078
ISSN (online)	1592-8721
ISSN	0017-6567 ; 0390-6078
DOI	10.3324/haematol.2019.241208
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