Abstract
| Original language | English |
|---|---|
| Pages (from-to) | 729-737 |
| Number of pages | 9 |
| Journal | Haematologica |
| Volume | 104 |
| Issue number | 4 |
| DOIs | |
| Publication status | Published - 2019 |
Keywords
- azacitidine
- decitabine
- romidepsin
- transcriptome
- adult
- animal experiment
- animal model
- animal tissue
- Article
- CAL-1 [Human melanoma] cell line
- chromatin immunoprecipitation
- clinical article
- controlled study
- dendritic cell sarcoma
- epigenetics
- female
- gene mutation
- hematopoietic stem cell transplantation
- histone methylation
- human
- immune dysregulation
- immunohistochemistry
- male
- middle aged
- mouse
- nonhuman
- plasmacytoid dendritic cell
- protein expression
- RNA sequence
- Sanger sequencing
- single nucleotide polymorphism
- somatic mutation
- upregulation
- whole exome sequencing
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Blastic plasmacytoid dendritic cell neoplasm: Genomics mark epigenetic dysregulation as a primary therapeutic target. / Sapienza, M.R.; Abate, F.; Melle, F.; Orecchioni, S.; Fuligni, F.; Etebari, M.; Tabanelli, V.; Laginestra, M.A.; Pileri, A.; Motta, G.; Rossi, M.; Agostinelli, C.; Sabattini, E.; Pimpinelli, N.; Truni, M.; Falini, B.; Cerroni, L.; Talarico, G.; Piccioni, R.; Amente, S.; Indio, V.; Tarantino, G.; Brundu, F.; Paulli, M.; Berti, E.; Facchetti, F.; Dellino, G.I.; Bertolini, F.; Tripodo, C.; Rabadan, R.; Pileri, S.A.
In: Haematologica, Vol. 104, No. 4, 2019, p. 729-737.Research output: Contribution to journal › Article › peer-review
}
TY - JOUR
T1 - Blastic plasmacytoid dendritic cell neoplasm: Genomics mark epigenetic dysregulation as a primary therapeutic target
AU - Sapienza, M.R.
AU - Abate, F.
AU - Melle, F.
AU - Orecchioni, S.
AU - Fuligni, F.
AU - Etebari, M.
AU - Tabanelli, V.
AU - Laginestra, M.A.
AU - Pileri, A.
AU - Motta, G.
AU - Rossi, M.
AU - Agostinelli, C.
AU - Sabattini, E.
AU - Pimpinelli, N.
AU - Truni, M.
AU - Falini, B.
AU - Cerroni, L.
AU - Talarico, G.
AU - Piccioni, R.
AU - Amente, S.
AU - Indio, V.
AU - Tarantino, G.
AU - Brundu, F.
AU - Paulli, M.
AU - Berti, E.
AU - Facchetti, F.
AU - Dellino, G.I.
AU - Bertolini, F.
AU - Tripodo, C.
AU - Rabadan, R.
AU - Pileri, S.A.
N1 - Cited By :5 Export Date: 2 March 2020 CODEN: HAEMA Correspondence Address: Sapienza, M.R.; Hematopathology Unit, Department of Experimental, Diagnostic, and Specialty Medicine, S. Orsola-Malpighi Hospital, University of BolognaItaly; email: mariarosaria.sapienza@gmail.com Chemicals/CAS: azacitidine, 320-67-2, 52934-49-3; decitabine, 2353-33-5; romidepsin, 128517-07-7 Funding details: Hospital for Sick Children Funding details: Università di Bologna Funding details: Università degli Studi di Brescia Funding details: Fondazione IRCCS Policlinico San Matteo Funding details: Università degli Studi di Napoli Federico II Funding details: Royal College of Physicians and Surgeons of Canada Funding details: Department of Surgery Funding details: Associazione Italiana per la Ricerca sul Cancro, 5x1000 10007, IG 15762 Funding text 1: 1Hematopathology Unit, Department of Experimental, Diagnostic, and Specialty Medicine, S. Orsola-Malpighi Hospital, University of Bologna, Italy; 2Department of Systems Biology, Columbia University College of Physicians and Surgeons, New York, NY, USA; 3Department of Biomedical Informatics, Columbia University College of Physicians and Surgeons, New York, NY, USA; 4Division of Haematopathology, European Institute of Oncology, Milan, Italy; 5Laboratory of Hematology-Oncology, European Institute of Oncology, Milan, Italy; 6Department of Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada: 7Dermatology Unit, Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Italy; 8Division of Dermatology, Department of Surgery and Translational Medicine, University of Florence, Italy; 9Pathological Anatomy Histology & Cytogenetics, Niguarda Cancer Center, Niguarda-Ca' Granda Hospital, Milan, Italy; 10Institute of Hematology and Center for Hemato-Oncology Research (CREO), University and Hospital of Perugia, Italy; 11Universitätsklinik für Dermatologie und Venerologie, LKH-Universitatsklinikum Graz, Austria; 12Department of Experimental Oncology, European Institute of Oncology, Milan, Italy; 13Department of Molecular Medicine and Medical Biotechnologies, University of Naples ‘Federico II’, Italy; 14"Giorgio Prodi" Cancer Research Center, University of Bologna, Italy; 15Unit of Anatomic Pathology, Department of Molecular Medicine, University of Pavia and Fondazione IRCCS San Matteo Policlinic, Pavia, Italy; 16Department of Dermatology, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinic and Milan University, Milan, Italy; 17Pathology Section, Department of Molecular and Translational Medicine, University of Brescia, Italy; 18Department of Oncology and Hemato-Oncology, University of Milan, Italy and19Tumor Immunology Unit, Department of Health Science, Human Pathology Section, University of Palermo School of Medicine, Italy Funding text 2: The present work was supported by the AIRC grants IG 15762 and 5x1000 10007 “Genetics-driven targeted management of lymphoid malignancies” and the Grant “Innovative approaches to the diagnosis and pharmacogenetic-based therapies of primary hepatic tumours, peripheral B and T-cell lymphomas and lymphoblastic leukaemias” Strategic Programme 2010-2012 Regione Emilia Romagna - Università (all to SAP). References: Chaperot, L., Bendriss, N., Manches, O., Identification of a leukemic counterpart of the plasmacytoid dendritic cells (2001) Blood, 97 (10), pp. 3210-3217; Swerdlow, S.H., Campo, E., Hazzis, N.L., Facchetti F, Jones D, Petrella T. Blastic plasmacytoid dendritic cell neoplasm (2008) Swerdlow SH, pp. 145-147. , Campo E, Hazzis NL, et al., eds. WHO Classification of Tumors of Haematopoietic and Lymphoid Tissues. Lyon: IARC Press; Facchetti, F., Cigognetti, M., Fisogni, S., Rossi, G., Lonardi, S., Vermi, W., Neoplasms derived from plasmacytoid dendritic cells (2016) Mod Pathol, 29 (2), pp. 98-111; Garnache-Ottou, F., Feuillard, J., Ferrand, C., Extended diagnostic criteria for plasmacytoid dendritic cell leukaemia (2009) Br J Haematol, 145 (5), pp. 624-636; Pagano, L., Valentini, C.G., Pulsoni, A., Blastic plasmacytoid dendritic cell neoplasm with leukemic presentation: An Italian multicenter study (2013) Haematologica, 98 (2), pp. 239-246; Roos-Weil, D., Dietrich, S., Boumendil, A., Stem cell transplantation can provide durable disease control in blastic plasmacytoid dendritic cell neoplasm: A retrospective study from the European Group for Blood and Marrow Transplantation (2013) Blood, 121 (3), pp. 440-446; Pemmaraju, N., Blastic plasmacytoid dendritic cell neoplasm (2016) Clin Adv Hematol Oncol, 14 (4), pp. 220-222; Petrella, T., Dalac, S., Maynadie, M., CD4+ CD56+ cutaneous neoplasms: A distinct hematological entity? Groupe Francais d'Etude des Lymphomes Cutanes (GFELC) (1999) Am J Surg Pathol, 23 (2), pp. 137-146; Leroux, D., Mugneret, F., Callanan, M., CD4(+), CD56(+) DC2 acute leukemia is characterized by recurrent clonal chromosomal changes affecting 6 major targets: A study of 21 cases by the Groupe Francais de Cytogenetique Hematologique (2002) Blood, 99 (11), pp. 4154-4159; Reichard, K.K., Burks, E.J., Foucar, M.K., CD4(+) CD56(+) lineage-negative malignancies are rare tumors of plasmacytoid dendritic cells (2005) Am J Surg Pathol, 29 (10), pp. 1274-1283; Dijkman, R., van Doorn, R., Szuhai, K., Willemze, R., Vermeer, M.H., Tensen, C.P., Gene-expression profiling and array-based CGH classify CD4+CD56+ hematodermic neoplasm and cutaneous myelomonocytic leukemia as distinct disease entities (2007) Blood, 109 (4), pp. 1720-1727; Wiesner, T., Obenauf, A.C., Cota, C., Fried, I., Speicher, M.R., Cerroni, L., Alterations of the cell-cycle inhibitors p27(KIP1) and p16(INK4a) are frequent in blastic plasmacytoid dendritic cell neoplasms (2010) J Invest Dermatol, 130 (4), pp. 1152-1157; Agliano, A., Martin-Padura, I., Marighetti, P., Therapeutic effect of lenalidomide in a novel xenograft mouse model of human blastic NK cell lymphoma/blastic plasmacytoid dendritic cell neoplasm (2011) Clin Cancer Res, 17 (19), pp. 6163-6173; Jardin, F., Ruminy, P., Parmentier, F., TET2 and TP53 mutations are frequently observed in blastic plasmacytoid dendritic cell neoplasm (2011) Br J Haematol, 153 (3), pp. 413-416; Lucioni, M., Novara, F., Fiandrino, G., Twenty-one cases of blastic plasmacytoid dendritic cell neoplasm: Focus on biallelic locus 9p21.3 deletion (2011) Blood, 118 (17), pp. 4591-4594; Alayed, K., Patel, K.P., Konoplev, S., TET2 mutations, myelodysplastic features, and a distinct immunoprofile characterize blastic plasmacytoid dendritic cell neoplasm in the bone marrow (2013) Am J Hematol, 88 (12), pp. 1055-1061; Sapienza, M.R., Fuligni, F., Agostinelli, C., Molecular profiling of blastic plasmacytoid dendritic cell neoplasm reveals a unique pattern and suggests selective sensitivity to NF-kB pathway inhibition (2014) Leukemia, 28 (8), pp. 1606-1616; Philippe, L., Ceroi, A., Bole-Richard, E., Bortezomib as a new therapeutic approach for blastic plasmacytoid dendritic cell neoplasm (2017) Haematologica, 102 (11), pp. 1861-1868; Menezes, J., Acquadro, F., Wiseman, M., Exome sequencing reveals novel and recurrent mutations with clinical impact in blastic plasmacytoid dendritic cell neoplasm (2014) Leukemia, 28 (4), pp. 823-829; Stenzinger, A., Endris, V., Pfarr, N., Targeted ultra-deep sequencing reveals recurrent and mutually exclusive mutations of cancer genes in blastic plasmacytoid dendritic cell neoplasm (2014) Oncotarget, 5 (15), pp. 6404-6413; Emadali, A., Hoghoughi, N., Duley, S., Haploinsufficiency for NR3C1, the gene encoding the glucocorticoid receptor, in blastic plasmacytoid dendritic cell neoplasms (2016) Blood, 127 (24), pp. 3040-3053; Montero, J., Stephansky, J., Cai, T., Blastic Plasmacytoid Dendritic Cell Neoplasm Is Dependent on BCL2 and Sensitive to Venetoclax (2017) Cancer Discov, 7 (2), pp. 156-164; Ceroi, A., Masson, D., Roggy, A., LXR agonist treatment of blastic plasmacytoid dendritic cell neoplasm restores cholesterol efflux and triggers apoptosis (2016) Blood, 128 (23), pp. 2694-2707; Ceribelli, M., Hou, Z.E., Kelly, P.N., A Druggable TCF4-and BRD4-Dependent Transcriptional Network Sustains Malignancy in Blastic Plasmacytoid Dendritic Cell Neoplasm (2016) Cancer Cell, 30 (5), pp. 764-778; Angelot-Delettre, F., Roggy, A., Frankel, A.E., In vivo and in vitro sensitivity of blastic plasmacytoid dendritic cell neoplasm to SL-401, an interleukin-3 receptor targeted biologic agent (2015) Haematologica, 100 (2), pp. 223-230; Fanelli, M., Amatori, S., Barozzi, I., Pathology tissue-chromatin immunoprecipitation, coupled with high-throughput sequencing, allows the epigenetic profiling of patient samples (2010) Proc Natl Acad Sci U S A, 107 (50), pp. 21535-21540; Maeda, T., Murata, K., Fukushima, T., A novel plasmacytoid dendritic cell line, CAL-1, established from a patient with blastic natural killer cell lymphoma (2005) Int J Hematol, 81 (2), pp. 148-154; Ashburner, M., Ball, C.A., Blake, J.A., Gene ontology: Tool for the unification of biology. The Gene Ontology Consortium (2000) Nat Genet, 25 (1), pp. 25-29; Ward, A.F., Braun, B.S., Shannon, K.M., Targeting oncogenic Ras signaling in hematologic malignancies (2012) Blood, 120 (17), pp. 3397-3406; Guarini, A., Marinelli, M., Tavolaro, S., ATM gene alterations in chronic lymphocytic leukemia patients induce a distinct gene expression profile and predict disease progression (2012) Haematologica, 97 (1), pp. 47-55; Simon, M., Grandage, V.L., Linch, D.C., Khwaja, A., Constitutive activation of the Wnt/beta-catenin signalling pathway in acute myeloid leukaemia (2005) Oncogene, 24 (14), pp. 2410-2420; Kuo, Y.H., Zaidi, S.K., Gornostaeva, S., Komori, T., Stein, G.S., Castilla, L.H., Runx2 induces acute myeloid leukemia in cooperation with Cbfbeta-SMMHC in mice (2009) Blood, 113 (14), pp. 3323-3332; Togami, K., Madan, V., Li, J., Blastic Plasmacytoid Dendritic Cell Neoplasm (BPDCN) Harbors Frequent Splicesosome Mutations That Cause Aberrant RNA Splicing Affecting Genes Critical in pDC Differentiation and Function (2016) Blood, 128 (22), p. 738; Scibetta, A.G., Santangelo, S., Coleman, J., Functional analysis of the transcription repressor PLU-1/JARID1B (2007) Mol Cell Biol, 27 (20), pp. 7220-7235; Pal, S., Vishwanath, S.N., Erdjument-Bromage, H., Tempst, P., Sif, S., Human SWI/SNF-associ-ated PRMT5 methylates histone H3 arginine 8 and negatively regulates expression of ST7 and NM23 tumor suppressor genes (2004) Mol Cell Biol, 24 (21), pp. 9630-9645; Missiaglia, E., Donadelli, M., Palmieri, M., Crnogorac-Jurcevic, T., Scarpa, A., Lemoine, N.R., Growth delay of human pancreatic cancer cells by methylase inhibitor 5-aza-2'-deoxycytidine treatment is associated with activation of the interferon signalling pathway (2005) Oncogene, 24 (1), pp. 199-211; Lee, K.H., Park, J.W., Sung, H.S., PHF2 histone demethylase acts as a tumor suppressor in association with p53 in cancer (2015) Oncogene, 34 (22), pp. 2897-2909; Subtil-Rodriguez, A., Vazquez-Chavez, E., Ceballos-Chavez, M., The chromatin remodeller CHD8 is required for E2F-depen-dent transcription activation of S-phase genes (2014) Nucleic Acids Res, 42 (4), pp. 2185-2196; Rotili, D., Mai, A., Targeting Histone Demethylases: A New Avenue for the Fight against Cancer (2011) Genes Cancer, 2 (6), pp. 663-679; Jin, Y., Zhou, J., Xu, F., Targeting methyl-transferase PRMT5 eliminates leukemia stem cells in chronic myelogenous leukemia (2016) J Clin Invest, 126 (10), pp. 3961-3980; Yamane, K., Tateishi, K., Klose, R.J., PLU-1 is an H3K4 demethylase involved in transcriptional repression and breast cancer cell proliferation (2007) Mol Cell, 25 (6), pp. 801-812; Tang, B., Qi, G., Tang, F., JARID1B promotes metastasis and epithelial-mesenchy-mal transition via PTEN/AKT signaling in hepatocellular carcinoma cells (2015) Oncotarget, 6 (14), pp. 12723-12739; Zhang, T., Cooper, S., Brockdorff, N., The interplay of histone modifications-writers that read (2015) EMBO Rep, 16 (11), pp. 1467-1481; Quintas-Cardama, A., Santos, F.P., Garcia-Manero, G., Therapy with azanucleosides for myelodysplastic syndromes (2010) Nat Rev Clin Oncol, 7 (8), pp. 433-444; Jabbour, E., Short, N.J., Montalban-Bravo, G., Randomized phase 2 study of low-dose decitabine vs low-dose azacitidine in lower-risk MDS and MDS/MPN (2017) Blood, 130 (13), pp. 1514-1522; Kalac, M., Scotto, L., Marchi, E., HDAC inhibitors and decitabine are highly synergistic and associated with unique gene-expression and epigenetic profiles in models of DLBCL (2011) Blood, 118 (20), pp. 5506-5516; Laribi, K., Denizon, N., Ghnaya, H., Blastic plasmacytoid dendritic cell neoplasm: The first report of two cases treated by 5-azacytidine (2014) Eur J Haematol, 93 (1), pp. 81-85; Khwaja, R., Daly, A., Wong, M., Mahe, E., Cerquozzi, S., Owen, C., Azacitidine in the treatment of blastic plasmacytoid dendritic cell neoplasm: A report of 3 cases (2016) Leuk Lymphoma, 57 (11), pp. 2720-2722
PY - 2019
Y1 - 2019
N2 - Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare and aggressive hematologic malignancy for which there is still no effective B therapy. In order to identify genetic alterations useful for a new treatment design, we used whole-exome sequencing to analyze 14 BPDCN patients and the patient-derived CAL-1 cell line. The functional enrichment analysis of mutational data reported the epigenetic regulatory program to be the most significantly undermined (P
AB - Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare and aggressive hematologic malignancy for which there is still no effective B therapy. In order to identify genetic alterations useful for a new treatment design, we used whole-exome sequencing to analyze 14 BPDCN patients and the patient-derived CAL-1 cell line. The functional enrichment analysis of mutational data reported the epigenetic regulatory program to be the most significantly undermined (P
KW - azacitidine
KW - decitabine
KW - romidepsin
KW - transcriptome
KW - adult
KW - animal experiment
KW - animal model
KW - animal tissue
KW - Article
KW - CAL-1 [Human melanoma] cell line
KW - chromatin immunoprecipitation
KW - clinical article
KW - controlled study
KW - dendritic cell sarcoma
KW - epigenetics
KW - female
KW - gene mutation
KW - hematopoietic stem cell transplantation
KW - histone methylation
KW - human
KW - immune dysregulation
KW - immunohistochemistry
KW - male
KW - middle aged
KW - mouse
KW - nonhuman
KW - plasmacytoid dendritic cell
KW - protein expression
KW - RNA sequence
KW - Sanger sequencing
KW - single nucleotide polymorphism
KW - somatic mutation
KW - upregulation
KW - whole exome sequencing
U2 - 10.3324/haematol.2018.202093
DO - 10.3324/haematol.2018.202093
M3 - Article
VL - 104
SP - 729
EP - 737
JO - Haematologica
JF - Haematologica
SN - 0390-6078
IS - 4
ER -