Translational Genomic and Functional Studies of Leukemia

2024

How to manage patients with germline DDX41 variants: Recommendations from the Nordic working group on germline predisposition for myeloid neoplasms

Baliakas, P., Tesi, B., Cammenga, J., Stray-Pedersen, A., Jahnukainen, K., Andersen, M. K., Ågerstam, H., Creignou, M., Dybedal, I., Raaschou-Jensen, K., Grønbæk, K., Kilpivaara, O., Lindberg, E. H. & Wartiovaara-Kautto, U., 2024 Aug, In: HemaSphere. 8, 8, e145.

Research output: Contribution to journal › Article › peer-review

Open Access

TLE3 Is a Novel Fusion Partner of JAK2 in Myeloid/Lymphoid Neoplasm With Eosinophilia Responding to JAK2 Inhibition

Lazarevic, V., Lilljebjörn, H., Olsson-Arvidsson, L., Orsmark-Pietras, C. & Ågerstam, H., 2024 Aug, In: Genes Chromosomes and Cancer. 63, 8, p. 1-8 e23261.

Research output: Contribution to journal › Article › peer-review

Open Access

Precision Diagnostics in Myeloid Malignancies: Development and Validation of a National Capture-Based Gene Panel

the SciLifeLab Clinical Genomics Platform and Genomic Medicine Sweden, 2024 Jul, In: Genes Chromosomes and Cancer. 63, 7, e23257.

Research output: Contribution to journal › Article › peer-review

Open Access

Distinct Infiltration of T Cell Populations in Bladder Cancer Molecular Subtypes

Sincic, V., Arlenhold, K. F., Richtmann, S., Lilljebjörn, H., Eriksson, P., Sjödahl, G., Wokander, M., Hägerbrand, K., Ellmark, P., Fioretos, T., Borrebaeck, C. A. K., Liedberg, F. & Lundberg, K., 2024 Jun, In: Cells. 13, 11, 926.

Research output: Contribution to journal › Article › peer-review

Open Access

Antibodies targeting the shared cytokine receptor IL-1 receptor accessory protein invoke distinct mechanisms to block all cytokine signaling

Fields, J. K., Gyllenbäck, E. J., Bogacz, M., Obi, J., Birkedal, G. S., Sjöström, K., Maravillas, K., Grönberg, C., Rattik, S., Kihn, K., Flowers, M., Smith, A. K., Hansen, N., Fioretos, T., Huyhn, C., Liberg, D., Deredge, D. & Sundberg, E. J., 2024, (E-pub ahead of print) In: Cell Reports. 114099.

Research output: Contribution to journal › Article › peer-review

Open Access

Constitutional and acquired genetic variants in ARID5B in pediatric B-cell precursor acute lymphoblastic leukemia

Ragnarsson, C., Yang, M., Moura-Castro, L. H., Aydın, E., Gunnarsson, R., Olsson-Arvidsson, L., Lilljebjörn, H., Fioretos, T., Duployez, N., Zaliova, M., Zuna, J., Castor, A., Johansson, B. & Paulsson, K., 2024, In: Genes Chromosomes and Cancer. 63, 5, e23242.

Research output: Contribution to journal › Article › peer-review

Open Access

Current and emerging sequencing-based tools for precision cancer medicine

Edsjö, A., Gisselsson, D., Staaf, J., Holmquist, L., Fioretos, T., Cavelier, L. & Rosenquist, R., 2024, In: Molecular Aspects of Medicine. 96, 101250.

Research output: Contribution to journal › Review article › peer-review

Sub-Nanomolar Detection of Oligonucleotides Using Molecular Beacons Immobilized on Lightguiding Nanowires

Johansson, T. B., Davtyan, R., Valderas-Gutiérrez, J., Gonzalez Rodriguez, A., Agnarsson, B., Munita, R., Fioretos, T., Lilljebjörn, H., Linke, H., Höök, F. & Prinz, C. N., 2024, In: Nanomaterials. 14, 5, 453.

Research output: Contribution to journal › Article › peer-review

Open Access

2023

Multimodal classification of molecular subtypes in pediatric acute lymphoblastic leukemia

Krali, O., Marincevic-Zuniga, Y., Arvidsson, G., Enblad, A. P., Lundmark, A., Sayyab, S., Zachariadis, V., Heinäniemi, M., Suhonen, J., Oksa, L., Vepsäläinen, K., Öfverholm, I., Barbany, G., Nordgren, A., Lilljebjörn, H., Fioretos, T., Madsen, H. O., Marquart, H. V., Flaegstad, T., Forestier, E., & 10 othersJónsson, Ó. G., Kanerva, J., Lohi, O., Norén-Nyström, U., Schmiegelow, K., Harila, A., Heyman, M., Lönnerholm, G., Syvänen, A. C. & Nordlund, J., 2023 Dec, In: NPJ precision oncology. 7, 1, 131.

Research output: Contribution to journal › Article › peer-review

Open Access

Combined GLUT1 and OXPHOS inhibition eliminates acute myeloid leukemia cells by restraining their metabolic plasticity

Rodriguez-Zabala, M., Ramakrishnan, R., Reinbach, K., Ghosh, S., Oburoglu, L., Falqués-Costa, A., Bellamkonda, K., Ehinger, M., Peña-Martínez, P., Puente-Moncada, N., Lilljebjörn, H., Cammenga, J., Pronk, C. J., Lazarevic, V., Fioretos, T., Hagström-Andersson, A. K., Woods, N. B. & Järås, M., 2023 Sept 26, In: Blood Advances. 7, 18, p. 5382-5395

Research output: Contribution to journal › Article › peer-review

Open Access

Diagnostic Yield From a Nationwide Implementation of Precision Medicine for all Children With Cancer

Wadensten, E., Wessman, S., Abel, F., Diaz De Ståhl, T., Tesi, B., Orsmark Pietras, C., Arvidsson, L., Taylan, F., Fransson, S., Vogt, H., Poluha, A., Pradhananga, S., Hellberg, M., Lagerstedt-Robinson, K., Raj Somarajan, P., Samuelsson, S., Orrsjö, S., Maqbool, K., Henning, K., Strid, T., & 20 othersEk, T., Fagman, H., Olsson Bontell, T., Martinsson, T., Puls, F., Kogner, P., Wirta, V., Pronk, C. J., Wille, J., Rosenquist, R., Nistér, M., Mertens, F., Sabel, M., Norén-Nyström, U., Grillner, P., Nordgren, A., Ljungman, G., Sandgren, J., Gisselsson, D. & Genomic Medicine Sweden Childhood Cancer Working Group, 2023 Jun, In: JCO Precision Oncology. 7, p. 1-11 e2300039.

Research output: Contribution to journal › Article › peer-review

Open Access

IL1RAP is expressed in several subtypes of pediatric acute lymphoblastic leukemia and can be used as a target to eliminate ETV6::RUNX1-positive leukemia cells in preclinical models.

Ågerstam, H., Lilljebjörn, H., Rissler, M., Sandén, C. & Fioretos, T., 2023 Feb 1, In: Haematologica. 108, 2, p. 599-604

Research output: Contribution to journal › Article › peer-review

Open Access

Building a precision medicine infrastructure at a national level: The Swedish experience

Edsjö, A., Lindstrand, A., Gisselsson Nord, D., Orvelid-Mölling, P., Friedman, M., Cavelier, L., Johansson, M., Ehrencrona, H., Fagerqvist, T., Strid, T., Lovmar, L., Jacobsson, B., Johansson, Å., Engstrand, L., Wheelock, C. E., Sikora, P., Wirta, V., Fioretos, T. & Rosenquist, R., 2023, In: Cambridge Prisms: Precision Medicine. 1

Research output: Contribution to journal › Review article › peer-review

Open Access

CRISPR Screens Identify Candidate Therapeutic Targets in Leukemia

Rodriguez Zabala, M., 2023, Lund: Lund University, Faculty of Medicine. 138 p.

Research output: Thesis › Doctoral Thesis (compilation)

Open Access

File

258 Downloads (Pure)

Feasibility to use whole-genome sequencing as a sole diagnostic method to detect genomic aberrations in pediatric B-cell acute lymphoblastic leukemia

Rezayee, F., Eisfeldt, J., Skaftason, A., Öfverholm, I., Sayyab, S., Syvänen, A. C., Maqbool, K., Lilljebjörn, H., Johansson, B., Olsson-Arvidsson, L., Pietras, C. O., Staffas, A., Palmqvist, L., Fioretos, T., Cavelier, L., Fogelstrand, L., Nordlund, J., Wirta, V., Rosenquist, R. & Barbany, G., 2023, In: Frontiers in Oncology. 13, 1217712.

Research output: Contribution to journal › Article › peer-review

Open Access

Genome-wide analysis of KMT2A-rearranged leukemia

Pilheden, M., 2023, Lund: Lund University, Faculty of Medicine. 40 p.

Research output: Thesis › Doctoral Thesis (compilation)

1 Downloads (Pure)

Novel precision medicine approaches and treatment strategies in hematological malignancies

Rosenquist, R., Bernard, E., Erkers, T., Scott, D. W., Itzykson, R., Rousselot, P., Soulier, J., Hutchings, M., Östling, P., Cavelier, L., Fioretos, T. & Smedby, K. E., 2023, In: Journal of Internal Medicine. 294, 4, p. 413-436 24 p.

Research output: Contribution to journal › Review article › peer-review

Open Access

The complement receptor C3AR constitutes a novel therapeutic target in NPM1-mutated AML

von Palffy, S., Thorsson, H., Peña-Martínez, P., Puente-Moncada, N., Sandén, C., Blom, A. M., Henningsson, R., Juliusson, G., King, B., Landberg, N., Lazarevic, V. L., Orsmark-Pietras, C., Rissler, M., Rissler, V., Ågerstam, H., Järås, M., Lilljebjörn, H. & Fioretos, T., 2023, In: Blood Advances. 7, 7, p. 1204-1218

Research output: Contribution to journal › Article › peer-review

2022

Duplex Sequencing Uncovers Recurrent Low-frequency Cancer-associated Mutations in Infant and Childhood KMT2A-rearranged Acute Leukemia

Pilheden, M., Ahlgren, L., Hyrenius-Wittsten, A., Gonzalez-Pena, V., Sturesson, H., Hansen Marquart, H. V., Lausen, B., Castor, A., Pronk, C. J., Barbany, G., Pokrovskaja Tamm, K., Fogelstrand, L., Lohi, O., Norén-Nyström, U., Asklin, J., Chen, Y., Song, G., Walsh, M., Ma, J., Zhang, J., & 3 othersSaal, L. H., Gawad, C. & Hagström-Andersson, A. K., 2022 Oct, In: HemaSphere. 6, 10, p. 1-8 e785.

Research output: Contribution to journal › Article › peer-review

Open Access

Implementing precision medicine in a regionally organized healthcare system in Sweden

Fioretos, T., Wirta, V., Cavelier, L., Berglund, E., Friedman, M., Akhras, M., Botling, J., Ehrencrona, H., Engstrand, L., Helenius, G., Fagerqvist, T., Gisselsson, D., Gruvberger-Saal, S., Gyllensten, U., Heidenblad, M., Höglund, K., Jacobsson, B., Johansson, M., Johansson, Å., Soller, M. J., & 23 othersLandström, M., Larsson, P., Levin, L-Å., Lindstrand, A., Lovmar, L., Lyander, A., Melin, M., Nordgren, A., Nordmark, G., Mölling, P., Palmqvist, L., Palmqvist, R., Repsilber, D., Sikora, P., Stenmark, B., Söderkvist, P., Stranneheim, H., Strid, T., Wheelock, C. E., Wadelius, M., Wedell, A., Edsjö, A. & Rosenquist, R., 2022 Oct, In: Nature Medicine. 28, 10, p. 1980-1982

Research output: Contribution to journal › Letter › peer-review

Application of precision medicine in clinical routine in haematology—Challenges and opportunities

Wästerlid, T., Cavelier, L., Haferlach, C., Konopleva, M., Fröhling, S., Östling, P., Bullinger, L., Fioretos, T. & Smedby, K. E., 2022 Aug, In: Journal of Internal Medicine. 292, 2, p. 243-261 19 p.

Research output: Contribution to journal › Review article › peer-review

Open Access

Why B(-)other? About the gap of unknowns in ALL

Fioretos, T., 2022 Jun 16, In: Blood. 139, 24, p. 3455-3457 3 p.

Research output: Contribution to journal › Debate/Note/Editorial

Open Access

A cis-acting structural variation at the ZNF558 locus controls a gene regulatory network in human brain development

Johansson, P. A., Brattås, P. L., Douse, C. H., Hsieh, P., Adami, A., Pontis, J., Grassi, D., Garza, R., Sozzi, E., Cataldo, R., Jönsson, M. E., Atacho, D. A. M., Pircs, K., Eren, F., Sharma, Y., Johansson, J., Fiorenzano, A., Parmar, M., Fex, M., Trono, D., & 2 othersEichler, E. E. & Jakobsson, J., 2022, In: Cell Stem Cell. 29, 1, p. 52-69.e8

Research output: Contribution to journal › Article › peer-review

Open Access

A Study Protocol for Validation and Implementation of Whole-Genome and -Transcriptome Sequencing as a Comprehensive Precision Diagnostic Test in Acute Leukemias

Berglund, E., Barbany, G., Orsmark-Pietras, C., Fogelstrand, L., Abrahamsson, J., Golovleva, I., Hallböök, H., Lazarevic, V., Levin, L. Å., Nordlund, J., Norèn-Nyström, U., Palle, J., Thangavelu, T., Palmqvist, L., Wirta, V., Cavelier, L., Fioretos, T., Rosenquist, R., the Clinical Genomics Platform at SciLifeLab & Genomic Medicine Sweden, 2022, In: Frontiers in Medicine. 9, p. 1-9 842507.

Research output: Contribution to journal › Article › peer-review

Open Access

High CD34 surface expression in BCP-ALL predicts poor induction therapy response and is associated with altered expression of genes related to cell migration and adhesion

Modvig, S., Wernersson, R., Øbro, N. F., Olsen, L. R., Christensen, C., Rosthøj, S., Degn, M., Jürgensen, G. W., Madsen, H. O., Albertsen, B. K., Wehner, P. S., Rosthøj, S., Lilljebjörn, H., Fioretos, T., Schmiegelow, K. & Marquart, H. V., 2022, In: Molecular Oncology. 16, 10, p. 2015-2030

Research output: Contribution to journal › Article › peer-review

Open Access

Inducing synthetic lethality for selective targeting of acute myeloid leukemia cells harboring STAG2 mutations

Subramaniam, A., Sandén, C., Moura-Castro, L., Žemaitis, K., Schmiderer, L., Baudet, A., Bäckström, A., Arvidsson, E., Hultmark, S., Miharada, N., Magnusson, M., Paulsson, K., Fioretos, T. & Larsson, J., 2022, In: Haematologica. 107, 9, p. 2271-2275

Research output: Contribution to journal › Letter › peer-review

Open Access

N-terminus DUX4-immunohistochemistry is a reliable methodology for the diagnosis of DUX4-fused B-lymphoblastic leukemia/lymphoma (N-terminus DUX4 IHC for DUX4-fused B-ALL)

Siegele, B. J., Stemmer-Rachamimov, A. O., Lilljebjorn, H., Fioretos, T., Winters, A. C., Dal Cin, P., Treece, A., Gaskell, A. & Nardi, V., 2022, In: Genes Chromosomes and Cancer. 61, 8, p. 449-458

Research output: Contribution to journal › Article › peer-review

Trailblazing precision medicine in Europe: A joint view by Genomic Medicine Sweden and the Centers for Personalized Medicine, ZPM, in Germany

GMS working groups and ZPM working groups, 2022, In: Seminars in Cancer Biology. 84, p. 242-254

Research output: Contribution to journal › Article › peer-review

Transcriptional profiling demonstrates altered characteristics of CD8 + cytotoxic T-cells and regulatory T-cells in TP53-mutated acute myeloid leukemia

Abolhalaj, M., Sincic, V., Lilljebjörn, H., Sandén, C., Aab, A., Hägerbrand, K., Ellmark, P., Borrebaeck, C., Fioretos, T. & Lundberg, K., 2022, In: Cancer Medicine. 11, 15 , p. 3023-3032

Research output: Contribution to journal › Article › peer-review

Open Access

Transcriptomics paving the way for improved diagnostics and precision medicine of acute leukemia

Lilljebjörn, H., Orsmark-Pietras, C., Mitelman, F., Hagström-Andersson, A. & Fioretos, T., 2022, In: Seminars in Cancer Biology. 84, p. 40-49

Research output: Contribution to journal › Article › peer-review

Open Access

2021

Single-cell sequencing in translational cancer research and challenges to meet clinical diagnostic needs

Pfisterer, U., Bräunig, J., Brattås, P., Heidenblad, M., Karlsson, G. & Fioretos, T., 2021 Jul 1, In: Genes, Chromosomes and Cancer. 60, 7, p. 504-524 21 p.

Research output: Contribution to journal › Review article › peer-review

Open Access

Clinical and genomic characterization of patients diagnosed with the provisional entity Acute myeloid leukemia with BCR-ABL1, a Swedish population-based study

Orsmark-Pietras, C., Landberg, N., Lorenz, F., Uggla, B., Höglund, M., Lehmann, S., Derolf, Å., Deneberg, S., Antunovic, P., Cammenga, J., Möllgård, L., Wennström, L., Lilljebjörn, H., Rissler, M., Fioretos, T. & Lazarevic, V. L., 2021 Jun 1, In: Genes, Chromosomes and Cancer. 60, 6, p. 426-433 8 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Precisionsmedicin standard vid flera hematologiska sjukdomar

Translated title of the contribution: Precision diagnostics and therapy in hematological malignanciesHellström Lindberg, E., Cavelier, L., Cammenga, J., Andersson, P. O., Fioretos, T. & Rosenquist, R., 2021 May, In: Lakartidningen. 118

Research output: Contribution to journal › Article › peer-review

Evolution: lab-grown ‘mini brains’ suggest one mutation might have rewired the human mind

Jimenez Ferrer Carrillo, I. & Brattås, P., 2021 Feb 26, The Conversation.

Research output: Contribution to specialist publication or newspaper › Specialist publication article › Popular science

Open Access

Combinatorial molecule screening identifies a novel diterpene and the BET inhibitor CPI-203 as differentiation inducers of primary acute myeloid leukemia cells

Hultmark, S., Baudet, A., Schmiderer, L., Prabhala, P., Palma-Tortosa, S., Sandén, C., Fioretos, T., Sasidharan, R., Larsson, C., Lehmann, S., Juliusson, G., Ek, F. & Magnusson, M., 2021, In: Haematologica. 106, 10

Research output: Contribution to journal › Article › peer-review

Open Access

Potential immunoregulatory role of T and dendritic cells in cancer: Investigations based on transcriptional analysis

Abolhalaj, M., 2021, Lund: Department of Immunotechnology, Lund University. 72 p.

Research output: Thesis › Doctoral Thesis (compilation)

File

112 Downloads (Pure)

Receptors and Regulators of Myeloid Leukemia

von Palffy, S., 2021, Lund: Lund University, Faculty of Medicine. 73 p.

Research output: Thesis › Doctoral Thesis (compilation)

Targeting GLUT1 in acute myeloid leukemia to overcome cytarabine resistance

Åbacka, H., Hansen, J. S., Huang, P., Venskutonytė, R., Hyrenius-Wittsten, A., Poli, G., Tuccinardi, T., Granchi, C., Minutolo, F., Hagström-Andersson, A. K. & Lindkvist-Petersson, K., 2021, In: Haematologica. 106, 4, p. 1163-1166

Research output: Contribution to journal › Article › peer-review

Open Access

2020

A dynamic mutational landscape associated with an inter-regionally diverse immune response in malignant rhabdoid tumour

Yasui, H., Valind, A., Karlsson, J., Pietras, C., Jansson, C., Wille, J., Romerius, P., Backman, T. & Gisselsson, D., 2020 Sept, In: Journal of Pathology. 252, 1, p. 22-28 7 p., e5490.

Research output: Contribution to journal › Article › peer-review

Open Access

13q12.2 deletions in acute lymphoblastic leukemia lead to upregulation of FLT3 through enhancer hijacking

Yang, M., Safavi, S., Woodward, E. L., Duployez, N., Olsson-arvidsson, L., Ungerbäck, J., Sigvardsson, M., Zaliova, M., Zuna, J., Fioretos, T., Johansson, B., Nord, K. H. & Paulsson, K., 2020 Aug 20, In: Blood. 136, 8, p. 946-956 11 p.

Research output: Contribution to journal › Article › peer-review

CXCR4 Signaling Has a CXCL12-Independent Essential Role in Murine MLL-AF9-Driven Acute Myeloid Leukemia

Ramakrishnan, R., Peña-Martínez, P., Agarwal, P., Rodriguez-Zabala, M., Chapellier, M., Högberg, C., Eriksson, M., Yudovich, D., Shah, M., Ehinger, M., Nilsson, B., Larsson, J., Hagström-Andersson, A., Ebert, B. L., Bhatia, R. & Järås, M., 2020 May 26, In: Cell Reports. 31, 8, 107684.

Research output: Contribution to journal › Article › peer-review

Open Access

A high-content cytokine screen identifies myostatin propeptide as a positive regulator of primitive chronic myeloid leukemia cells

von Palffy, S., Landberg, N., Sandén, C., Zacharaki, D., Shah, M., Nakamichi, N., Hansen, N., Askmyr, M., Lilljebjörn, H., Rissler, M., Karlsson, C., Scheding, S., Richter, J., Eaves, C. J., Bhatia, R., Järås, M. & Fioretos, T., 2020, In: Haematologica. 105, 8, p. 2095-2104 10 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Cell Surface Markers as Therapeutic Targets in Myeloid Leukemia

Landberg, N., 2020, Lund: Lund University, Faculty of Medicine. 79 p.

Research output: Thesis › Doctoral Thesis (compilation)

Open Access

File

1240 Downloads (Pure)

Clonal competition within complex evolutionary hierarchies shapes AML over time

Sandén, C., Lilljebjörn, H., Orsmark Pietras, C., Henningsson, R., Saba, K. H., Landberg, N., Thorsson, H., von Palffy, S., Peña-Martinez, P., Högberg, C., Rissler, M., Gisselsson, D., Lazarevic, V., Juliusson, G., Ågerstam, H. & Fioretos, T., 2020, In: Nature Communications. 11, 1, 579.

Research output: Contribution to journal › Article › peer-review

Open Access

Functional Screens Identify Vulnerabilities in Acute Leukemia

Ramakrishnan, R., 2020, Lund: Lund University, Faculty of Medicine. 86 p.

Research output: Thesis › Doctoral Thesis (compilation)

Open Access

File

353 Downloads (Pure)

Transcriptomic profiling of T-cell populations in non-muscle invasive and muscle invasive bladder cancer.

Sincic, V., Abolhalaj, M., Lilljebjörn, H., Aab, A., Hägerbrand, K., Ellmark, P., Fioretos, T., Borrebaeck, C., Liedberg, F. & Lundberg, K., 2020, In: Journal for ImmunoTherapy of Cancer. 8, Suppl. 3

Research output: Contribution to journal › Published meeting abstract › peer-review

Open Access

2019

PAX5 is part of a functional transcription factor network targeted in lymphoid leukemia

Okuyama, K., Strid, T., Kuruvilla, J., Somasundaram, R., Cristobal, S., Smith, E., Prasad, M., Fioretos, T., Lilljebjörn, H., Soneji, S., Lang, S., Ungerbäck, J. & Sigvardsson, M., 2019 Aug 1, In: PLoS Genetics. 15, 8, e1008280.

Research output: Contribution to journal › Article › peer-review

Open Access