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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Cancers 2021-11, Vol.13 (23), p.5888
Hauptverfasser: 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.
Format: Artikel
Sprache:eng
Schlagworte:
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
container_end_page
container_issue 23
container_start_page 5888
container_title Cancers
container_volume 13
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
format Article
fullrecord <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8656770</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2608532888</sourcerecordid><originalsourceid>FETCH-LOGICAL-c398t-28e3ba42eb34af97d8f222049dcf63f11054454b876c35e8c6969ac042832ac73</originalsourceid><addsrcrecordid>eNpdkctLJDEQxsPisorr2WuDFy-t6VQ6j4ug7RNk18N6Dpl0tRPpScYkI8x_b48O4lqX-qj68VEPQg4begKg6amzwWHKDTBolVI_yB6jktVCaL7zRe-Sg5yf6RQAjRTyF9kFrhTXWu6R4S4UfEq2YF91ow_e2bG6wRDLeon1w3yrqm5uk3UFk8_Fu1zFoboY7UZXD1NeWLcu0ffVJYY--U25w3Gs_mBcbtq_yc_BjhkPtnmfPF5f_etu6_u_N3fd-X3tQKtSM4Uws5zhDLgdtOzVwBijXPduEDA0DW05b_lMSeGgReWEFto6ypkCZp2EfXL24btczRbYOwwl2dEsk1_YtDbRevN_J_i5eYqvRolWSEkng-OtQYovK8zFLHx20yo2YFxlwwRVLbDp3BN69A19jqsUpvXeKSobLmGiTj8ol2LOCYfPYRpqNm80394Ib5sRkXk</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2608071473</pqid></control><display><type>article</type><title>Integrated Clinical Genotype-Phenotype Characteristics of Blastic Plasmacytoid Dendritic Cell Neoplasm</title><source>PubMed Central Open Access</source><source>MDPI - Multidisciplinary Digital Publishing Institute</source><source>EZB-FREE-00999 freely available EZB journals</source><source>PubMed Central</source><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.</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. Cameron</creator><creator>Pemmaraju, Naveen</creator><creator>You, M. James</creator><creator>Li, Shaoying</creator><creator>Xu, Jie</creator><creator>Wang, Wei</creator><creator>Tang, Zhenya</creator><creator>Alswailmi, Omar</creator><creator>Bhalla, Kapil N.</creator><creator>Qazilbash, Muzaffar H.</creator><creator>Konopleva, Marina</creator><creator>Khoury, Joseph D.</creator><general>MDPI AG</general><general>MDPI</general><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7T5</scope><scope>7TO</scope><scope>7XB</scope><scope>8FE</scope><scope>8FH</scope><scope>8FK</scope><scope>8G5</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>H94</scope><scope>HCIFZ</scope><scope>LK8</scope><scope>M2O</scope><scope>M7P</scope><scope>MBDVC</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>Q9U</scope><scope>7X8</scope><scope>5PM</scope><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></search><sort><creationdate>20211123</creationdate><title>Integrated Clinical Genotype-Phenotype Characteristics of Blastic Plasmacytoid Dendritic Cell Neoplasm</title><author>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.</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. 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><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Immunology Abstracts</collection><collection>Oncogenes and Growth Factors Abstracts</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Research Library (Alumni Edition)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>ProQuest Central Student</collection><collection>Research Library Prep</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Biological Science Collection</collection><collection>Research Library</collection><collection>Biological Science Database</collection><collection>Research Library (Corporate)</collection><collection>Publicly Available Content Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Cancers</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Yin, C. 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>
fulltext fulltext
identifier ISSN: 2072-6694
ispartof Cancers, 2021-11, Vol.13 (23), p.5888
issn 2072-6694
2072-6694
language eng
recordid cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8656770
source PubMed Central Open Access; MDPI - Multidisciplinary Digital Publishing Institute; EZB-FREE-00999 freely available EZB journals; PubMed Central
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
url https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-20T19%3A50%3A30IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Integrated%20Clinical%20Genotype-Phenotype%20Characteristics%20of%20Blastic%20Plasmacytoid%20Dendritic%20Cell%20Neoplasm&rft.jtitle=Cancers&rft.au=Yin,%20C.%20Cameron&rft.date=2021-11-23&rft.volume=13&rft.issue=23&rft.spage=5888&rft.pages=5888-&rft.issn=2072-6694&rft.eissn=2072-6694&rft_id=info:doi/10.3390/cancers13235888&rft_dat=%3Cproquest_pubme%3E2608532888%3C/proquest_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2608071473&rft_id=info:pmid/34884997&rfr_iscdi=true