Integrated Clinical Genotype-Phenotype Characteristics of Blastic Plasmacytoid Dendritic Cell Neoplasm
Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare, aggressive neoplasm derived from plasmacytoid dendritic cells. While advances in understanding the pathophysiology of the disease have been made, integrated systematic analyses of the spectrum of immunophenotypic and molecular alteratio...
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creator | Yin, C. Cameron Pemmaraju, Naveen You, M. James Li, Shaoying Xu, Jie Wang, Wei Tang, Zhenya Alswailmi, Omar Bhalla, Kapil N. Qazilbash, Muzaffar H. Konopleva, Marina Khoury, Joseph D. |
description | Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare, aggressive neoplasm derived from plasmacytoid dendritic cells. While advances in understanding the pathophysiology of the disease have been made, integrated systematic analyses of the spectrum of immunophenotypic and molecular alterations in real-world clinical cases remain limited. We performed mutation profiling of 50 BPDCN cases and assessed our findings in the context of disease immunophenotype, cytogenetics, and clinical characteristics. Patients included 42 men and 8 women, with a median age of 68 years (range, 14–84) at diagnosis. Forty-two (84%) patients had at least one mutation, and 23 (46%) patients had ≥3 mutations. The most common mutations involved TET2 and ASXL1, detected in 28 (56%) and 23 (46%) patients, respectively. Co-existing TET2 and ASXL1 mutations were present in 17 (34%) patients. Other recurrent mutations included ZRSR2 (16%), ETV6 (13%), DNMT3A (10%), NRAS (10%), IKZF1 (9%), SRSF2 (9%), IDH2 (8%), JAK2 (6%), KRAS (4%), NOTCH1 (4%), and TP53 (4%). We also identified mutations that have not been reported previously, including ETNK1, HNRNPK, HRAS, KDM6A, RAD21, SF3A1, and SH2B3. All patients received chemotherapy, and 20 patients additionally received stem cell transplantation. With a median follow-up of 10.5 months (range, 1–71), 21 patients achieved complete remission, 4 had persistent disease, and 24 died. Patients younger than 65 years had longer overall survival compared to those who were ≥65 years (p = 0.0022). Patients who had ≥3 mutations or mutations in the DNA methylation pathway genes had shorter overall survival (p = 0.0119 and p = 0.0126, respectively). Stem cell transplantation significantly prolonged overall survival regardless of mutation status. In conclusion, the majority of patients with BPDCN have somatic mutations involving epigenetic regulators and RNA splicing factors, in addition to ETV6 and IKZF1, which are also frequently mutated. Older age, multiple mutations, and mutations in the DNA methylation pathway are poor prognostic factors. |
doi_str_mv | 10.3390/cancers13235888 |
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Cameron ; Pemmaraju, Naveen ; You, M. James ; Li, Shaoying ; Xu, Jie ; Wang, Wei ; Tang, Zhenya ; Alswailmi, Omar ; Bhalla, Kapil N. ; Qazilbash, Muzaffar H. ; Konopleva, Marina ; Khoury, Joseph D.</creator><creatorcontrib>Yin, C. Cameron ; Pemmaraju, Naveen ; You, M. James ; Li, Shaoying ; Xu, Jie ; Wang, Wei ; Tang, Zhenya ; Alswailmi, Omar ; Bhalla, Kapil N. ; Qazilbash, Muzaffar H. ; Konopleva, Marina ; Khoury, Joseph D.</creatorcontrib><description>Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare, aggressive neoplasm derived from plasmacytoid dendritic cells. While advances in understanding the pathophysiology of the disease have been made, integrated systematic analyses of the spectrum of immunophenotypic and molecular alterations in real-world clinical cases remain limited. We performed mutation profiling of 50 BPDCN cases and assessed our findings in the context of disease immunophenotype, cytogenetics, and clinical characteristics. Patients included 42 men and 8 women, with a median age of 68 years (range, 14–84) at diagnosis. Forty-two (84%) patients had at least one mutation, and 23 (46%) patients had ≥3 mutations. The most common mutations involved TET2 and ASXL1, detected in 28 (56%) and 23 (46%) patients, respectively. Co-existing TET2 and ASXL1 mutations were present in 17 (34%) patients. Other recurrent mutations included ZRSR2 (16%), ETV6 (13%), DNMT3A (10%), NRAS (10%), IKZF1 (9%), SRSF2 (9%), IDH2 (8%), JAK2 (6%), KRAS (4%), NOTCH1 (4%), and TP53 (4%). We also identified mutations that have not been reported previously, including ETNK1, HNRNPK, HRAS, KDM6A, RAD21, SF3A1, and SH2B3. All patients received chemotherapy, and 20 patients additionally received stem cell transplantation. With a median follow-up of 10.5 months (range, 1–71), 21 patients achieved complete remission, 4 had persistent disease, and 24 died. Patients younger than 65 years had longer overall survival compared to those who were ≥65 years (p = 0.0022). Patients who had ≥3 mutations or mutations in the DNA methylation pathway genes had shorter overall survival (p = 0.0119 and p = 0.0126, respectively). Stem cell transplantation significantly prolonged overall survival regardless of mutation status. In conclusion, the majority of patients with BPDCN have somatic mutations involving epigenetic regulators and RNA splicing factors, in addition to ETV6 and IKZF1, which are also frequently mutated. Older age, multiple mutations, and mutations in the DNA methylation pathway are poor prognostic factors.</description><identifier>ISSN: 2072-6694</identifier><identifier>EISSN: 2072-6694</identifier><identifier>DOI: 10.3390/cancers13235888</identifier><identifier>PMID: 34884997</identifier><language>eng</language><publisher>Basel: MDPI AG</publisher><subject>Bone marrow ; Chemotherapy ; Cloning ; Cytogenetics ; Dendritic cells ; Deoxyribonucleic acid ; DNA ; DNA methylation ; Epigenetics ; Flow cytometry ; Genes ; Genotypes ; Histones ; Janus kinase 2 ; Leukemia ; Lymphatic system ; Mutation ; Notch1 protein ; p53 Protein ; Pathogenesis ; Pathophysiology ; Patients ; Phenotypes ; Remission ; Signal transduction ; Splicing factors ; Statistical analysis ; Stem cell transplantation ; Transcription factors ; Tumors</subject><ispartof>Cancers, 2021-11, Vol.13 (23), p.5888</ispartof><rights>2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2021 by the authors. 2021</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c398t-28e3ba42eb34af97d8f222049dcf63f11054454b876c35e8c6969ac042832ac73</citedby><cites>FETCH-LOGICAL-c398t-28e3ba42eb34af97d8f222049dcf63f11054454b876c35e8c6969ac042832ac73</cites><orcidid>0000-0002-1670-6513 ; 0000-0003-2621-3584 ; 0000-0002-8079-9945</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC8656770/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC8656770/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,724,777,781,882,27905,27906,53772,53774</link.rule.ids></links><search><creatorcontrib>Yin, C. Cameron</creatorcontrib><creatorcontrib>Pemmaraju, Naveen</creatorcontrib><creatorcontrib>You, M. James</creatorcontrib><creatorcontrib>Li, Shaoying</creatorcontrib><creatorcontrib>Xu, Jie</creatorcontrib><creatorcontrib>Wang, Wei</creatorcontrib><creatorcontrib>Tang, Zhenya</creatorcontrib><creatorcontrib>Alswailmi, Omar</creatorcontrib><creatorcontrib>Bhalla, Kapil N.</creatorcontrib><creatorcontrib>Qazilbash, Muzaffar H.</creatorcontrib><creatorcontrib>Konopleva, Marina</creatorcontrib><creatorcontrib>Khoury, Joseph D.</creatorcontrib><title>Integrated Clinical Genotype-Phenotype Characteristics of Blastic Plasmacytoid Dendritic Cell Neoplasm</title><title>Cancers</title><description>Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare, aggressive neoplasm derived from plasmacytoid dendritic cells. While advances in understanding the pathophysiology of the disease have been made, integrated systematic analyses of the spectrum of immunophenotypic and molecular alterations in real-world clinical cases remain limited. We performed mutation profiling of 50 BPDCN cases and assessed our findings in the context of disease immunophenotype, cytogenetics, and clinical characteristics. Patients included 42 men and 8 women, with a median age of 68 years (range, 14–84) at diagnosis. Forty-two (84%) patients had at least one mutation, and 23 (46%) patients had ≥3 mutations. The most common mutations involved TET2 and ASXL1, detected in 28 (56%) and 23 (46%) patients, respectively. Co-existing TET2 and ASXL1 mutations were present in 17 (34%) patients. Other recurrent mutations included ZRSR2 (16%), ETV6 (13%), DNMT3A (10%), NRAS (10%), IKZF1 (9%), SRSF2 (9%), IDH2 (8%), JAK2 (6%), KRAS (4%), NOTCH1 (4%), and TP53 (4%). We also identified mutations that have not been reported previously, including ETNK1, HNRNPK, HRAS, KDM6A, RAD21, SF3A1, and SH2B3. All patients received chemotherapy, and 20 patients additionally received stem cell transplantation. With a median follow-up of 10.5 months (range, 1–71), 21 patients achieved complete remission, 4 had persistent disease, and 24 died. Patients younger than 65 years had longer overall survival compared to those who were ≥65 years (p = 0.0022). Patients who had ≥3 mutations or mutations in the DNA methylation pathway genes had shorter overall survival (p = 0.0119 and p = 0.0126, respectively). Stem cell transplantation significantly prolonged overall survival regardless of mutation status. In conclusion, the majority of patients with BPDCN have somatic mutations involving epigenetic regulators and RNA splicing factors, in addition to ETV6 and IKZF1, which are also frequently mutated. Older age, multiple mutations, and mutations in the DNA methylation pathway are poor prognostic factors.</description><subject>Bone marrow</subject><subject>Chemotherapy</subject><subject>Cloning</subject><subject>Cytogenetics</subject><subject>Dendritic cells</subject><subject>Deoxyribonucleic acid</subject><subject>DNA</subject><subject>DNA methylation</subject><subject>Epigenetics</subject><subject>Flow cytometry</subject><subject>Genes</subject><subject>Genotypes</subject><subject>Histones</subject><subject>Janus kinase 2</subject><subject>Leukemia</subject><subject>Lymphatic system</subject><subject>Mutation</subject><subject>Notch1 protein</subject><subject>p53 Protein</subject><subject>Pathogenesis</subject><subject>Pathophysiology</subject><subject>Patients</subject><subject>Phenotypes</subject><subject>Remission</subject><subject>Signal transduction</subject><subject>Splicing factors</subject><subject>Statistical analysis</subject><subject>Stem cell transplantation</subject><subject>Transcription factors</subject><subject>Tumors</subject><issn>2072-6694</issn><issn>2072-6694</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><sourceid>8G5</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNpdkctLJDEQxsPisorr2WuDFy-t6VQ6j4ug7RNk18N6Dpl0tRPpScYkI8x_b48O4lqX-qj68VEPQg4begKg6amzwWHKDTBolVI_yB6jktVCaL7zRe-Sg5yf6RQAjRTyF9kFrhTXWu6R4S4UfEq2YF91ow_e2bG6wRDLeon1w3yrqm5uk3UFk8_Fu1zFoboY7UZXD1NeWLcu0ffVJYY--U25w3Gs_mBcbtq_yc_BjhkPtnmfPF5f_etu6_u_N3fd-X3tQKtSM4Uws5zhDLgdtOzVwBijXPduEDA0DW05b_lMSeGgReWEFto6ypkCZp2EfXL24btczRbYOwwl2dEsk1_YtDbRevN_J_i5eYqvRolWSEkng-OtQYovK8zFLHx20yo2YFxlwwRVLbDp3BN69A19jqsUpvXeKSobLmGiTj8ol2LOCYfPYRpqNm80394Ib5sRkXk</recordid><startdate>20211123</startdate><enddate>20211123</enddate><creator>Yin, C. 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Cameron ; Pemmaraju, Naveen ; You, M. James ; Li, Shaoying ; Xu, Jie ; Wang, Wei ; Tang, Zhenya ; Alswailmi, Omar ; Bhalla, Kapil N. ; Qazilbash, Muzaffar H. ; Konopleva, Marina ; Khoury, Joseph D.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c398t-28e3ba42eb34af97d8f222049dcf63f11054454b876c35e8c6969ac042832ac73</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>Bone marrow</topic><topic>Chemotherapy</topic><topic>Cloning</topic><topic>Cytogenetics</topic><topic>Dendritic cells</topic><topic>Deoxyribonucleic acid</topic><topic>DNA</topic><topic>DNA methylation</topic><topic>Epigenetics</topic><topic>Flow cytometry</topic><topic>Genes</topic><topic>Genotypes</topic><topic>Histones</topic><topic>Janus kinase 2</topic><topic>Leukemia</topic><topic>Lymphatic system</topic><topic>Mutation</topic><topic>Notch1 protein</topic><topic>p53 Protein</topic><topic>Pathogenesis</topic><topic>Pathophysiology</topic><topic>Patients</topic><topic>Phenotypes</topic><topic>Remission</topic><topic>Signal transduction</topic><topic>Splicing factors</topic><topic>Statistical analysis</topic><topic>Stem cell transplantation</topic><topic>Transcription factors</topic><topic>Tumors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Yin, C. 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Cameron</au><au>Pemmaraju, Naveen</au><au>You, M. James</au><au>Li, Shaoying</au><au>Xu, Jie</au><au>Wang, Wei</au><au>Tang, Zhenya</au><au>Alswailmi, Omar</au><au>Bhalla, Kapil N.</au><au>Qazilbash, Muzaffar H.</au><au>Konopleva, Marina</au><au>Khoury, Joseph D.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Integrated Clinical Genotype-Phenotype Characteristics of Blastic Plasmacytoid Dendritic Cell Neoplasm</atitle><jtitle>Cancers</jtitle><date>2021-11-23</date><risdate>2021</risdate><volume>13</volume><issue>23</issue><spage>5888</spage><pages>5888-</pages><issn>2072-6694</issn><eissn>2072-6694</eissn><abstract>Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare, aggressive neoplasm derived from plasmacytoid dendritic cells. While advances in understanding the pathophysiology of the disease have been made, integrated systematic analyses of the spectrum of immunophenotypic and molecular alterations in real-world clinical cases remain limited. We performed mutation profiling of 50 BPDCN cases and assessed our findings in the context of disease immunophenotype, cytogenetics, and clinical characteristics. Patients included 42 men and 8 women, with a median age of 68 years (range, 14–84) at diagnosis. Forty-two (84%) patients had at least one mutation, and 23 (46%) patients had ≥3 mutations. The most common mutations involved TET2 and ASXL1, detected in 28 (56%) and 23 (46%) patients, respectively. Co-existing TET2 and ASXL1 mutations were present in 17 (34%) patients. Other recurrent mutations included ZRSR2 (16%), ETV6 (13%), DNMT3A (10%), NRAS (10%), IKZF1 (9%), SRSF2 (9%), IDH2 (8%), JAK2 (6%), KRAS (4%), NOTCH1 (4%), and TP53 (4%). We also identified mutations that have not been reported previously, including ETNK1, HNRNPK, HRAS, KDM6A, RAD21, SF3A1, and SH2B3. All patients received chemotherapy, and 20 patients additionally received stem cell transplantation. With a median follow-up of 10.5 months (range, 1–71), 21 patients achieved complete remission, 4 had persistent disease, and 24 died. Patients younger than 65 years had longer overall survival compared to those who were ≥65 years (p = 0.0022). Patients who had ≥3 mutations or mutations in the DNA methylation pathway genes had shorter overall survival (p = 0.0119 and p = 0.0126, respectively). Stem cell transplantation significantly prolonged overall survival regardless of mutation status. In conclusion, the majority of patients with BPDCN have somatic mutations involving epigenetic regulators and RNA splicing factors, in addition to ETV6 and IKZF1, which are also frequently mutated. Older age, multiple mutations, and mutations in the DNA methylation pathway are poor prognostic factors.</abstract><cop>Basel</cop><pub>MDPI AG</pub><pmid>34884997</pmid><doi>10.3390/cancers13235888</doi><orcidid>https://orcid.org/0000-0002-1670-6513</orcidid><orcidid>https://orcid.org/0000-0003-2621-3584</orcidid><orcidid>https://orcid.org/0000-0002-8079-9945</orcidid><oa>free_for_read</oa></addata></record> |
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subjects | Bone marrow Chemotherapy Cloning Cytogenetics Dendritic cells Deoxyribonucleic acid DNA DNA methylation Epigenetics Flow cytometry Genes Genotypes Histones Janus kinase 2 Leukemia Lymphatic system Mutation Notch1 protein p53 Protein Pathogenesis Pathophysiology Patients Phenotypes Remission Signal transduction Splicing factors Statistical analysis Stem cell transplantation Transcription factors Tumors |
title | Integrated Clinical Genotype-Phenotype Characteristics of Blastic Plasmacytoid Dendritic Cell Neoplasm |
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