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Pediatric Germline Predisposition to Myeloid Neoplasms
Purpose of Review Advances in the understanding of germline predisposition to pediatric cancers, particularly myeloid neoplasms, have increased rapidly over the last 20 years. Here, we highlight the most up-to-date knowledge regarding known pathogenic germline variants that contribute to the develop...
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Published in: | Current hematologic malignancy reports 2022-12, Vol.17 (6), p.266-274 |
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creator | Thompson, Christineil Ariagno, Sydney Kohorst, Mira A. |
description | Purpose of Review
Advances in the understanding of germline predisposition to pediatric cancers, particularly myeloid neoplasms, have increased rapidly over the last 20 years. Here, we highlight the most up-to-date knowledge regarding known pathogenic germline variants that contribute to the development of myeloid neoplasms in children.
Recent Findings
This discussion enumerates the most notable myeloid neoplasm-causing germline mutations. These mutations may be organized based on their molecular underpinnings—transcriptional control, splicing and signal transduction control, and a group of heterogeneous bone marrow failure syndromes. We review recent findings related to the biochemical mechanisms that predispose to malignant transformation in each condition. Key genetic discoveries such as novel mutations, degrees of penetrance, principles of the two-hit hypothesis, and co-occurrence of multiple mutations are shared. Clinical pearls, such as information regarding epidemiology, natural history, or prognosis, are also discussed.
Summary
Germline mutations predisposing to pediatric myeloid neoplasms are frequent, but underrecognized. They hold major clinical implications regarding prognosis, treatment strategies, and screening for other malignancies. Further research is warranted to better characterize each of these conditions, as well as identify additional novel germline pathogenic variants of interest. |
doi_str_mv | 10.1007/s11899-022-00681-5 |
format | article |
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Advances in the understanding of germline predisposition to pediatric cancers, particularly myeloid neoplasms, have increased rapidly over the last 20 years. Here, we highlight the most up-to-date knowledge regarding known pathogenic germline variants that contribute to the development of myeloid neoplasms in children.
Recent Findings
This discussion enumerates the most notable myeloid neoplasm-causing germline mutations. These mutations may be organized based on their molecular underpinnings—transcriptional control, splicing and signal transduction control, and a group of heterogeneous bone marrow failure syndromes. We review recent findings related to the biochemical mechanisms that predispose to malignant transformation in each condition. Key genetic discoveries such as novel mutations, degrees of penetrance, principles of the two-hit hypothesis, and co-occurrence of multiple mutations are shared. Clinical pearls, such as information regarding epidemiology, natural history, or prognosis, are also discussed.
Summary
Germline mutations predisposing to pediatric myeloid neoplasms are frequent, but underrecognized. They hold major clinical implications regarding prognosis, treatment strategies, and screening for other malignancies. Further research is warranted to better characterize each of these conditions, as well as identify additional novel germline pathogenic variants of interest.</description><identifier>ISSN: 1558-8211</identifier><identifier>EISSN: 1558-822X</identifier><identifier>DOI: 10.1007/s11899-022-00681-5</identifier><identifier>PMID: 36117229</identifier><language>eng</language><publisher>New York: Springer US</publisher><subject>Child ; Genetic Predisposition to Disease ; Geriatrics/Gerontology ; Germ Cells - pathology ; Germ-Line Mutation ; Germline Predisposition to Myeloid Neoplasms (M Patnaik ; Hematologic Neoplasms - diagnosis ; Hematologic Neoplasms - genetics ; Hematologic Neoplasms - pathology ; Hematology ; Humans ; Medicine ; Medicine & Public Health ; Myeloproliferative Disorders - diagnosis ; Myeloproliferative Disorders - genetics ; Neoplasms ; Oncology ; Section Editor ; Topical Collection on Germline Predisposition to Myeloid Neoplasm</subject><ispartof>Current hematologic malignancy reports, 2022-12, Vol.17 (6), p.266-274</ispartof><rights>The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature 2022. Springer Nature or its licensor holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.</rights><rights>2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c277t-58722ced123247d1aef80f1a19a98f76fe23ef267b2834f9e7d3e352543acdd23</citedby><cites>FETCH-LOGICAL-c277t-58722ced123247d1aef80f1a19a98f76fe23ef267b2834f9e7d3e352543acdd23</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/36117229$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Thompson, Christineil</creatorcontrib><creatorcontrib>Ariagno, Sydney</creatorcontrib><creatorcontrib>Kohorst, Mira A.</creatorcontrib><title>Pediatric Germline Predisposition to Myeloid Neoplasms</title><title>Current hematologic malignancy reports</title><addtitle>Curr Hematol Malig Rep</addtitle><addtitle>Curr Hematol Malig Rep</addtitle><description>Purpose of Review
Advances in the understanding of germline predisposition to pediatric cancers, particularly myeloid neoplasms, have increased rapidly over the last 20 years. Here, we highlight the most up-to-date knowledge regarding known pathogenic germline variants that contribute to the development of myeloid neoplasms in children.
Recent Findings
This discussion enumerates the most notable myeloid neoplasm-causing germline mutations. These mutations may be organized based on their molecular underpinnings—transcriptional control, splicing and signal transduction control, and a group of heterogeneous bone marrow failure syndromes. We review recent findings related to the biochemical mechanisms that predispose to malignant transformation in each condition. Key genetic discoveries such as novel mutations, degrees of penetrance, principles of the two-hit hypothesis, and co-occurrence of multiple mutations are shared. Clinical pearls, such as information regarding epidemiology, natural history, or prognosis, are also discussed.
Summary
Germline mutations predisposing to pediatric myeloid neoplasms are frequent, but underrecognized. They hold major clinical implications regarding prognosis, treatment strategies, and screening for other malignancies. Further research is warranted to better characterize each of these conditions, as well as identify additional novel germline pathogenic variants of interest.</description><subject>Child</subject><subject>Genetic Predisposition to Disease</subject><subject>Geriatrics/Gerontology</subject><subject>Germ Cells - pathology</subject><subject>Germ-Line Mutation</subject><subject>Germline Predisposition to Myeloid Neoplasms (M Patnaik</subject><subject>Hematologic Neoplasms - diagnosis</subject><subject>Hematologic Neoplasms - genetics</subject><subject>Hematologic Neoplasms - pathology</subject><subject>Hematology</subject><subject>Humans</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Myeloproliferative Disorders - diagnosis</subject><subject>Myeloproliferative Disorders - genetics</subject><subject>Neoplasms</subject><subject>Oncology</subject><subject>Section Editor</subject><subject>Topical Collection on Germline Predisposition to Myeloid Neoplasm</subject><issn>1558-8211</issn><issn>1558-822X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2022</creationdate><recordtype>article</recordtype><recordid>eNp9kDFPwzAQhS0EoqXwBxhQRpaAz45jZ0QVFKQCHUBis9z4jFIlcbGTof-elBRGpjvdvfdO9xFyCfQGKJW3EUAVRUoZSynNFaTiiExBCJUqxj6O_3qACTmLcUNplgHlp2TCcwDJWDEl-QptZbpQlckCQ1NXLSarMMzi1seqq3ybdD553mHtK5u8oN_WJjbxnJw4U0e8ONQZeX-4f5s_psvXxdP8bpmWTMouFWq4UqIFxlkmLRh0ijowUJhCOZk7ZBwdy-WaKZ65AqXlyAUTGTeltYzPyPWYuw3-q8fY6aaKJda1adH3UTMJQhZAhRikbJSWwccY0OltqBoTdhqo3vPSIy898NI_vPTedHXI79cN2j_LL6BBwEdBHFbtJwa98X1oh5__i_0GxId1TQ</recordid><startdate>20221201</startdate><enddate>20221201</enddate><creator>Thompson, Christineil</creator><creator>Ariagno, Sydney</creator><creator>Kohorst, Mira A.</creator><general>Springer US</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></search><sort><creationdate>20221201</creationdate><title>Pediatric Germline Predisposition to Myeloid Neoplasms</title><author>Thompson, Christineil ; Ariagno, Sydney ; Kohorst, Mira A.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c277t-58722ced123247d1aef80f1a19a98f76fe23ef267b2834f9e7d3e352543acdd23</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2022</creationdate><topic>Child</topic><topic>Genetic Predisposition to Disease</topic><topic>Geriatrics/Gerontology</topic><topic>Germ Cells - pathology</topic><topic>Germ-Line Mutation</topic><topic>Germline Predisposition to Myeloid Neoplasms (M Patnaik</topic><topic>Hematologic Neoplasms - diagnosis</topic><topic>Hematologic Neoplasms - genetics</topic><topic>Hematologic Neoplasms - pathology</topic><topic>Hematology</topic><topic>Humans</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Myeloproliferative Disorders - diagnosis</topic><topic>Myeloproliferative Disorders - genetics</topic><topic>Neoplasms</topic><topic>Oncology</topic><topic>Section Editor</topic><topic>Topical Collection on Germline Predisposition to Myeloid Neoplasm</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Thompson, Christineil</creatorcontrib><creatorcontrib>Ariagno, Sydney</creatorcontrib><creatorcontrib>Kohorst, Mira A.</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>Current hematologic malignancy reports</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Thompson, Christineil</au><au>Ariagno, Sydney</au><au>Kohorst, Mira A.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Pediatric Germline Predisposition to Myeloid Neoplasms</atitle><jtitle>Current hematologic malignancy reports</jtitle><stitle>Curr Hematol Malig Rep</stitle><addtitle>Curr Hematol Malig Rep</addtitle><date>2022-12-01</date><risdate>2022</risdate><volume>17</volume><issue>6</issue><spage>266</spage><epage>274</epage><pages>266-274</pages><issn>1558-8211</issn><eissn>1558-822X</eissn><abstract>Purpose of Review
Advances in the understanding of germline predisposition to pediatric cancers, particularly myeloid neoplasms, have increased rapidly over the last 20 years. Here, we highlight the most up-to-date knowledge regarding known pathogenic germline variants that contribute to the development of myeloid neoplasms in children.
Recent Findings
This discussion enumerates the most notable myeloid neoplasm-causing germline mutations. These mutations may be organized based on their molecular underpinnings—transcriptional control, splicing and signal transduction control, and a group of heterogeneous bone marrow failure syndromes. We review recent findings related to the biochemical mechanisms that predispose to malignant transformation in each condition. Key genetic discoveries such as novel mutations, degrees of penetrance, principles of the two-hit hypothesis, and co-occurrence of multiple mutations are shared. Clinical pearls, such as information regarding epidemiology, natural history, or prognosis, are also discussed.
Summary
Germline mutations predisposing to pediatric myeloid neoplasms are frequent, but underrecognized. They hold major clinical implications regarding prognosis, treatment strategies, and screening for other malignancies. Further research is warranted to better characterize each of these conditions, as well as identify additional novel germline pathogenic variants of interest.</abstract><cop>New York</cop><pub>Springer US</pub><pmid>36117229</pmid><doi>10.1007/s11899-022-00681-5</doi><tpages>9</tpages></addata></record> |
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subjects | Child Genetic Predisposition to Disease Geriatrics/Gerontology Germ Cells - pathology Germ-Line Mutation Germline Predisposition to Myeloid Neoplasms (M Patnaik Hematologic Neoplasms - diagnosis Hematologic Neoplasms - genetics Hematologic Neoplasms - pathology Hematology Humans Medicine Medicine & Public Health Myeloproliferative Disorders - diagnosis Myeloproliferative Disorders - genetics Neoplasms Oncology Section Editor Topical Collection on Germline Predisposition to Myeloid Neoplasm |
title | Pediatric Germline Predisposition to Myeloid Neoplasms |
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