Triple-Negative Primary Myelofibrosis: A Bone Marrow Pathology Group Study
Primary myelofibrosis (PMF) is a clonal myeloproliferative neoplasm driven by canonical gene mutations in JAK2, CALR, or MPL in >80% of the cases. PMF that lacks these canonical alterations is termed triple-negative PMF (TN-PMF). The pathologic and genetic characteristics of TN-PMF compared with...
Gespeichert in:
| Veröffentlicht in: | Modern pathology 2023-03, Vol.36 (3), p.100016-100016, Article 100016 |
|---|---|
| Hauptverfasser: | , , , , , , , , , , , , , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 100016 |
|---|---|
| container_issue | 3 |
| container_start_page | 100016 |
| container_title | Modern pathology |
| container_volume | 36 |
| creator | Al-Ghamdi, Yahya A. Lake, Jonathan Bagg, Adam Thakral, Beenu Wang, Sa A. Bueso-Ramos, Carlos Masarova, Lucia Verstovsek, Srdan Rogers, Heesun J. Hsi, Eric D. Gralewski, Jonathon H. Chabot-Richards, Devon George, Tracy I. Rets, Anton Hasserjian, Robert P. Weinberg, Olga K. Parilla, Megan Arber, Daniel A. Padilla, Osvaldo Orazi, Attilio Tam, Wayne |
| description | Primary myelofibrosis (PMF) is a clonal myeloproliferative neoplasm driven by canonical gene mutations in JAK2, CALR, or MPL in >80% of the cases. PMF that lacks these canonical alterations is termed triple-negative PMF (TN-PMF). The pathologic and genetic characteristics of TN-PMF compared with those of conventional PMF with canonical driver mutations (DM-PMF) have not been well studied. We aimed to identify clinicopathologic and molecular genetic differences between patients with TN-PMF (n = 56) and DM-PMF (n = 89), all of whom fulfilled the 2016 World Health Organization diagnostic criteria for PMF. Compared with the control group, patients in the TN-PMF group were more likely to have thrombocytopenia and less likely to have organomegaly. The bone marrow in patients with TN-PMF showed fewer granulocytic elements and more frequent dyserythropoiesis. Cytogenetic analysis showed a higher incidence of trisomy 8. Targeted next-generation sequencing revealed a lower frequency of ASXL1 mutations but enrichment of ASXL1/SRSF2 comutations. Our findings demonstrated several clinicopathologic and molecular differences between TN-PMF and DM-PMF. These findings, particularly the observed mutation profile characterized by a higher frequency of ASXL1 and SRSF2 comutation, suggest that at least a subset of TN-PMF may be pathogenetically different from DM-PMF, with potential prognostic implications. |
| doi_str_mv | 10.1016/j.modpat.2022.100016 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_2777010172</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><els_id>S0893395222000163</els_id><sourcerecordid>2777010172</sourcerecordid><originalsourceid>FETCH-LOGICAL-c408t-288c23cec02016941e40fe168b10ea8f2fc098950603333c2e23ca7541ba69c13</originalsourceid><addsrcrecordid>eNp9kE1LxDAQhoMo7vrxD0R69NJ1kn6lHoR18ZNdFdRzSNOpZmk3NWmV_nsjVY_OJTA8M5P3IeSIwowCTU_Xs8aUrexmDBjzLfDNLTKlSQQhMJ5skynwPAqjPGETsufc2hNxwtkumURpxjnk0ZTcPVvd1hje46vs9AcGj1Y30g7BasDaVLqwxml3FsyDC7PBYCWtNZ_Bo-zeTG1eh-Damr4Nnrq-HA7ITiVrh4c_7z55ubp8XtyEy4fr28V8GaoYeBcyzhWLFCpg_sd5TDGGCmnKCwooecUqBTnPE0gh8qUYelpmSUwLmeaKRvvkZNzbWvPeo-tEo53CupYbNL0TLMsy8Ioy5tF4RJWP4SxWoh3jCQri26JYi9Gi-LYoRot-7PjnQl80WP4N_WrzwPkIoM_5odEKpzRuFJbaoupEafT_F74AW9eDew</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2777010172</pqid></control><display><type>article</type><title>Triple-Negative Primary Myelofibrosis: A Bone Marrow Pathology Group Study</title><source>MEDLINE</source><source>Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals</source><source>Alma/SFX Local Collection</source><creator>Al-Ghamdi, Yahya A. ; Lake, Jonathan ; Bagg, Adam ; Thakral, Beenu ; Wang, Sa A. ; Bueso-Ramos, Carlos ; Masarova, Lucia ; Verstovsek, Srdan ; Rogers, Heesun J. ; Hsi, Eric D. ; Gralewski, Jonathon H. ; Chabot-Richards, Devon ; George, Tracy I. ; Rets, Anton ; Hasserjian, Robert P. ; Weinberg, Olga K. ; Parilla, Megan ; Arber, Daniel A. ; Padilla, Osvaldo ; Orazi, Attilio ; Tam, Wayne</creator><creatorcontrib>Al-Ghamdi, Yahya A. ; Lake, Jonathan ; Bagg, Adam ; Thakral, Beenu ; Wang, Sa A. ; Bueso-Ramos, Carlos ; Masarova, Lucia ; Verstovsek, Srdan ; Rogers, Heesun J. ; Hsi, Eric D. ; Gralewski, Jonathon H. ; Chabot-Richards, Devon ; George, Tracy I. ; Rets, Anton ; Hasserjian, Robert P. ; Weinberg, Olga K. ; Parilla, Megan ; Arber, Daniel A. ; Padilla, Osvaldo ; Orazi, Attilio ; Tam, Wayne</creatorcontrib><description>Primary myelofibrosis (PMF) is a clonal myeloproliferative neoplasm driven by canonical gene mutations in JAK2, CALR, or MPL in >80% of the cases. PMF that lacks these canonical alterations is termed triple-negative PMF (TN-PMF). The pathologic and genetic characteristics of TN-PMF compared with those of conventional PMF with canonical driver mutations (DM-PMF) have not been well studied. We aimed to identify clinicopathologic and molecular genetic differences between patients with TN-PMF (n = 56) and DM-PMF (n = 89), all of whom fulfilled the 2016 World Health Organization diagnostic criteria for PMF. Compared with the control group, patients in the TN-PMF group were more likely to have thrombocytopenia and less likely to have organomegaly. The bone marrow in patients with TN-PMF showed fewer granulocytic elements and more frequent dyserythropoiesis. Cytogenetic analysis showed a higher incidence of trisomy 8. Targeted next-generation sequencing revealed a lower frequency of ASXL1 mutations but enrichment of ASXL1/SRSF2 comutations. Our findings demonstrated several clinicopathologic and molecular differences between TN-PMF and DM-PMF. These findings, particularly the observed mutation profile characterized by a higher frequency of ASXL1 and SRSF2 comutation, suggest that at least a subset of TN-PMF may be pathogenetically different from DM-PMF, with potential prognostic implications.</description><identifier>ISSN: 0893-3952</identifier><identifier>EISSN: 1530-0285</identifier><identifier>DOI: 10.1016/j.modpat.2022.100016</identifier><identifier>PMID: 36788093</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Bone Marrow - pathology ; Humans ; Janus Kinase 2 - genetics ; Mutation ; myeloid neoplasms ; Myeloproliferative Disorders - genetics ; myeloproliferative neoplasms ; primary myelofibrosis ; Primary Myelofibrosis - genetics ; Primary Myelofibrosis - pathology ; Prognosis ; Transcription Factors - genetics ; triple-negative primary myelofibrosis</subject><ispartof>Modern pathology, 2023-03, Vol.36 (3), p.100016-100016, Article 100016</ispartof><rights>2022 United States & Canadian Academy of Pathology</rights><rights>Copyright © 2022 United States & Canadian Academy of Pathology. Published by Elsevier Inc. All rights reserved.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c408t-288c23cec02016941e40fe168b10ea8f2fc098950603333c2e23ca7541ba69c13</citedby><cites>FETCH-LOGICAL-c408t-288c23cec02016941e40fe168b10ea8f2fc098950603333c2e23ca7541ba69c13</cites><orcidid>0000-0002-0647-9521</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/36788093$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Al-Ghamdi, Yahya A.</creatorcontrib><creatorcontrib>Lake, Jonathan</creatorcontrib><creatorcontrib>Bagg, Adam</creatorcontrib><creatorcontrib>Thakral, Beenu</creatorcontrib><creatorcontrib>Wang, Sa A.</creatorcontrib><creatorcontrib>Bueso-Ramos, Carlos</creatorcontrib><creatorcontrib>Masarova, Lucia</creatorcontrib><creatorcontrib>Verstovsek, Srdan</creatorcontrib><creatorcontrib>Rogers, Heesun J.</creatorcontrib><creatorcontrib>Hsi, Eric D.</creatorcontrib><creatorcontrib>Gralewski, Jonathon H.</creatorcontrib><creatorcontrib>Chabot-Richards, Devon</creatorcontrib><creatorcontrib>George, Tracy I.</creatorcontrib><creatorcontrib>Rets, Anton</creatorcontrib><creatorcontrib>Hasserjian, Robert P.</creatorcontrib><creatorcontrib>Weinberg, Olga K.</creatorcontrib><creatorcontrib>Parilla, Megan</creatorcontrib><creatorcontrib>Arber, Daniel A.</creatorcontrib><creatorcontrib>Padilla, Osvaldo</creatorcontrib><creatorcontrib>Orazi, Attilio</creatorcontrib><creatorcontrib>Tam, Wayne</creatorcontrib><title>Triple-Negative Primary Myelofibrosis: A Bone Marrow Pathology Group Study</title><title>Modern pathology</title><addtitle>Mod Pathol</addtitle><description>Primary myelofibrosis (PMF) is a clonal myeloproliferative neoplasm driven by canonical gene mutations in JAK2, CALR, or MPL in >80% of the cases. PMF that lacks these canonical alterations is termed triple-negative PMF (TN-PMF). The pathologic and genetic characteristics of TN-PMF compared with those of conventional PMF with canonical driver mutations (DM-PMF) have not been well studied. We aimed to identify clinicopathologic and molecular genetic differences between patients with TN-PMF (n = 56) and DM-PMF (n = 89), all of whom fulfilled the 2016 World Health Organization diagnostic criteria for PMF. Compared with the control group, patients in the TN-PMF group were more likely to have thrombocytopenia and less likely to have organomegaly. The bone marrow in patients with TN-PMF showed fewer granulocytic elements and more frequent dyserythropoiesis. Cytogenetic analysis showed a higher incidence of trisomy 8. Targeted next-generation sequencing revealed a lower frequency of ASXL1 mutations but enrichment of ASXL1/SRSF2 comutations. Our findings demonstrated several clinicopathologic and molecular differences between TN-PMF and DM-PMF. These findings, particularly the observed mutation profile characterized by a higher frequency of ASXL1 and SRSF2 comutation, suggest that at least a subset of TN-PMF may be pathogenetically different from DM-PMF, with potential prognostic implications.</description><subject>Bone Marrow - pathology</subject><subject>Humans</subject><subject>Janus Kinase 2 - genetics</subject><subject>Mutation</subject><subject>myeloid neoplasms</subject><subject>Myeloproliferative Disorders - genetics</subject><subject>myeloproliferative neoplasms</subject><subject>primary myelofibrosis</subject><subject>Primary Myelofibrosis - genetics</subject><subject>Primary Myelofibrosis - pathology</subject><subject>Prognosis</subject><subject>Transcription Factors - genetics</subject><subject>triple-negative primary myelofibrosis</subject><issn>0893-3952</issn><issn>1530-0285</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2023</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kE1LxDAQhoMo7vrxD0R69NJ1kn6lHoR18ZNdFdRzSNOpZmk3NWmV_nsjVY_OJTA8M5P3IeSIwowCTU_Xs8aUrexmDBjzLfDNLTKlSQQhMJ5skynwPAqjPGETsufc2hNxwtkumURpxjnk0ZTcPVvd1hje46vs9AcGj1Y30g7BasDaVLqwxml3FsyDC7PBYCWtNZ_Bo-zeTG1eh-Damr4Nnrq-HA7ITiVrh4c_7z55ubp8XtyEy4fr28V8GaoYeBcyzhWLFCpg_sd5TDGGCmnKCwooecUqBTnPE0gh8qUYelpmSUwLmeaKRvvkZNzbWvPeo-tEo53CupYbNL0TLMsy8Ioy5tF4RJWP4SxWoh3jCQri26JYi9Gi-LYoRot-7PjnQl80WP4N_WrzwPkIoM_5odEKpzRuFJbaoupEafT_F74AW9eDew</recordid><startdate>202303</startdate><enddate>202303</enddate><creator>Al-Ghamdi, Yahya A.</creator><creator>Lake, Jonathan</creator><creator>Bagg, Adam</creator><creator>Thakral, Beenu</creator><creator>Wang, Sa A.</creator><creator>Bueso-Ramos, Carlos</creator><creator>Masarova, Lucia</creator><creator>Verstovsek, Srdan</creator><creator>Rogers, Heesun J.</creator><creator>Hsi, Eric D.</creator><creator>Gralewski, Jonathon H.</creator><creator>Chabot-Richards, Devon</creator><creator>George, Tracy I.</creator><creator>Rets, Anton</creator><creator>Hasserjian, Robert P.</creator><creator>Weinberg, Olga K.</creator><creator>Parilla, Megan</creator><creator>Arber, Daniel A.</creator><creator>Padilla, Osvaldo</creator><creator>Orazi, Attilio</creator><creator>Tam, Wayne</creator><general>Elsevier Inc</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0002-0647-9521</orcidid></search><sort><creationdate>202303</creationdate><title>Triple-Negative Primary Myelofibrosis: A Bone Marrow Pathology Group Study</title><author>Al-Ghamdi, Yahya A. ; Lake, Jonathan ; Bagg, Adam ; Thakral, Beenu ; Wang, Sa A. ; Bueso-Ramos, Carlos ; Masarova, Lucia ; Verstovsek, Srdan ; Rogers, Heesun J. ; Hsi, Eric D. ; Gralewski, Jonathon H. ; Chabot-Richards, Devon ; George, Tracy I. ; Rets, Anton ; Hasserjian, Robert P. ; Weinberg, Olga K. ; Parilla, Megan ; Arber, Daniel A. ; Padilla, Osvaldo ; Orazi, Attilio ; Tam, Wayne</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c408t-288c23cec02016941e40fe168b10ea8f2fc098950603333c2e23ca7541ba69c13</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2023</creationdate><topic>Bone Marrow - pathology</topic><topic>Humans</topic><topic>Janus Kinase 2 - genetics</topic><topic>Mutation</topic><topic>myeloid neoplasms</topic><topic>Myeloproliferative Disorders - genetics</topic><topic>myeloproliferative neoplasms</topic><topic>primary myelofibrosis</topic><topic>Primary Myelofibrosis - genetics</topic><topic>Primary Myelofibrosis - pathology</topic><topic>Prognosis</topic><topic>Transcription Factors - genetics</topic><topic>triple-negative primary myelofibrosis</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Al-Ghamdi, Yahya A.</creatorcontrib><creatorcontrib>Lake, Jonathan</creatorcontrib><creatorcontrib>Bagg, Adam</creatorcontrib><creatorcontrib>Thakral, Beenu</creatorcontrib><creatorcontrib>Wang, Sa A.</creatorcontrib><creatorcontrib>Bueso-Ramos, Carlos</creatorcontrib><creatorcontrib>Masarova, Lucia</creatorcontrib><creatorcontrib>Verstovsek, Srdan</creatorcontrib><creatorcontrib>Rogers, Heesun J.</creatorcontrib><creatorcontrib>Hsi, Eric D.</creatorcontrib><creatorcontrib>Gralewski, Jonathon H.</creatorcontrib><creatorcontrib>Chabot-Richards, Devon</creatorcontrib><creatorcontrib>George, Tracy I.</creatorcontrib><creatorcontrib>Rets, Anton</creatorcontrib><creatorcontrib>Hasserjian, Robert P.</creatorcontrib><creatorcontrib>Weinberg, Olga K.</creatorcontrib><creatorcontrib>Parilla, Megan</creatorcontrib><creatorcontrib>Arber, Daniel A.</creatorcontrib><creatorcontrib>Padilla, Osvaldo</creatorcontrib><creatorcontrib>Orazi, Attilio</creatorcontrib><creatorcontrib>Tam, Wayne</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Modern pathology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Al-Ghamdi, Yahya A.</au><au>Lake, Jonathan</au><au>Bagg, Adam</au><au>Thakral, Beenu</au><au>Wang, Sa A.</au><au>Bueso-Ramos, Carlos</au><au>Masarova, Lucia</au><au>Verstovsek, Srdan</au><au>Rogers, Heesun J.</au><au>Hsi, Eric D.</au><au>Gralewski, Jonathon H.</au><au>Chabot-Richards, Devon</au><au>George, Tracy I.</au><au>Rets, Anton</au><au>Hasserjian, Robert P.</au><au>Weinberg, Olga K.</au><au>Parilla, Megan</au><au>Arber, Daniel A.</au><au>Padilla, Osvaldo</au><au>Orazi, Attilio</au><au>Tam, Wayne</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Triple-Negative Primary Myelofibrosis: A Bone Marrow Pathology Group Study</atitle><jtitle>Modern pathology</jtitle><addtitle>Mod Pathol</addtitle><date>2023-03</date><risdate>2023</risdate><volume>36</volume><issue>3</issue><spage>100016</spage><epage>100016</epage><pages>100016-100016</pages><artnum>100016</artnum><issn>0893-3952</issn><eissn>1530-0285</eissn><abstract>Primary myelofibrosis (PMF) is a clonal myeloproliferative neoplasm driven by canonical gene mutations in JAK2, CALR, or MPL in >80% of the cases. PMF that lacks these canonical alterations is termed triple-negative PMF (TN-PMF). The pathologic and genetic characteristics of TN-PMF compared with those of conventional PMF with canonical driver mutations (DM-PMF) have not been well studied. We aimed to identify clinicopathologic and molecular genetic differences between patients with TN-PMF (n = 56) and DM-PMF (n = 89), all of whom fulfilled the 2016 World Health Organization diagnostic criteria for PMF. Compared with the control group, patients in the TN-PMF group were more likely to have thrombocytopenia and less likely to have organomegaly. The bone marrow in patients with TN-PMF showed fewer granulocytic elements and more frequent dyserythropoiesis. Cytogenetic analysis showed a higher incidence of trisomy 8. Targeted next-generation sequencing revealed a lower frequency of ASXL1 mutations but enrichment of ASXL1/SRSF2 comutations. Our findings demonstrated several clinicopathologic and molecular differences between TN-PMF and DM-PMF. These findings, particularly the observed mutation profile characterized by a higher frequency of ASXL1 and SRSF2 comutation, suggest that at least a subset of TN-PMF may be pathogenetically different from DM-PMF, with potential prognostic implications.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>36788093</pmid><doi>10.1016/j.modpat.2022.100016</doi><tpages>1</tpages><orcidid>https://orcid.org/0000-0002-0647-9521</orcidid><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0893-3952 |
| ispartof | Modern pathology, 2023-03, Vol.36 (3), p.100016-100016, Article 100016 |
| issn | 0893-3952 1530-0285 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_2777010172 |
| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Alma/SFX Local Collection |
| subjects | Bone Marrow - pathology Humans Janus Kinase 2 - genetics Mutation myeloid neoplasms Myeloproliferative Disorders - genetics myeloproliferative neoplasms primary myelofibrosis Primary Myelofibrosis - genetics Primary Myelofibrosis - pathology Prognosis Transcription Factors - genetics triple-negative primary myelofibrosis |
| title | Triple-Negative Primary Myelofibrosis: A Bone Marrow Pathology Group Study |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-02T07%3A48%3A14IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Triple-Negative%20Primary%20Myelofibrosis:%20A%20Bone%20Marrow%20Pathology%20Group%20Study&rft.jtitle=Modern%20pathology&rft.au=Al-Ghamdi,%20Yahya%20A.&rft.date=2023-03&rft.volume=36&rft.issue=3&rft.spage=100016&rft.epage=100016&rft.pages=100016-100016&rft.artnum=100016&rft.issn=0893-3952&rft.eissn=1530-0285&rft_id=info:doi/10.1016/j.modpat.2022.100016&rft_dat=%3Cproquest_cross%3E2777010172%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2777010172&rft_id=info:pmid/36788093&rft_els_id=S0893395222000163&rfr_iscdi=true |