Inherited Thrombocytopenia Caused by Germline ANKRD26 Mutation Should Be Considered in Young Patients With Suspected Myelodysplastic Syndrome
Thrombocytopenia 2 (THC2) is an autosomal dominant disorder characterized by ankyrin repeat domain 26 mutation and moderate thrombocytopenia. THC2 exposes patients to a low risk of bleeding and an increased likelihood of myelodysplastic syndrome/acute myeloid leukemia. Germline evaluation for a gene...
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| creator | Kewan, Tariq Noss, Ryan Godley, Lucy A. Rogers, Heesun J. Carraway, Hetty E. |
| description | Thrombocytopenia 2 (THC2) is an autosomal dominant disorder characterized by ankyrin repeat domain 26 mutation and moderate thrombocytopenia. THC2 exposes patients to a low risk of bleeding and an increased likelihood of myelodysplastic syndrome/acute myeloid leukemia. Germline evaluation for a genetic disorder should be considered when a patient presents with isolated thrombocytopenia and associated dysmegakaryopoiesis. In this case report, we present a male patient who presented with isolated thrombocytopenia but was ultimately confirmed to have an inherited THC2 thrombocytopenia/myelodysplastic syndrome. Given the rarity of the disease, no clear guidelines on how to follow THC2 patients over the long term have been established. We recommend a monthly complete blood count and clinical visits every 3 months at a minimum. |
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THC2 exposes patients to a low risk of bleeding and an increased likelihood of myelodysplastic syndrome/acute myeloid leukemia. Germline evaluation for a genetic disorder should be considered when a patient presents with isolated thrombocytopenia and associated dysmegakaryopoiesis. In this case report, we present a male patient who presented with isolated thrombocytopenia but was ultimately confirmed to have an inherited THC2 thrombocytopenia/myelodysplastic syndrome. Given the rarity of the disease, no clear guidelines on how to follow THC2 patients over the long term have been established. 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This work is licensed under the Creative Commons Attribution – Non-Commercial License https://creativecommons.org/licenses/by-nc/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2020 American Federation for Medical Research 2020 American Federation for Medical Research</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c462t-efe32db1b28a6612351694ff0811a663a4dfff8ac2fa1f568d8e3daf8219b6033</citedby><cites>FETCH-LOGICAL-c462t-efe32db1b28a6612351694ff0811a663a4dfff8ac2fa1f568d8e3daf8219b6033</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7493274/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7493274/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,860,881,4010,21945,27830,27900,27901,27902,44921,45309,53766,53768</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/32618208$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Kewan, Tariq</creatorcontrib><creatorcontrib>Noss, Ryan</creatorcontrib><creatorcontrib>Godley, Lucy A.</creatorcontrib><creatorcontrib>Rogers, Heesun J.</creatorcontrib><creatorcontrib>Carraway, Hetty E.</creatorcontrib><title>Inherited Thrombocytopenia Caused by Germline ANKRD26 Mutation Should Be Considered in Young Patients With Suspected Myelodysplastic Syndrome</title><title>JIM - high impact case reports</title><addtitle>J Investig Med High Impact Case Rep</addtitle><description>Thrombocytopenia 2 (THC2) is an autosomal dominant disorder characterized by ankyrin repeat domain 26 mutation and moderate thrombocytopenia. THC2 exposes patients to a low risk of bleeding and an increased likelihood of myelodysplastic syndrome/acute myeloid leukemia. Germline evaluation for a genetic disorder should be considered when a patient presents with isolated thrombocytopenia and associated dysmegakaryopoiesis. In this case report, we present a male patient who presented with isolated thrombocytopenia but was ultimately confirmed to have an inherited THC2 thrombocytopenia/myelodysplastic syndrome. Given the rarity of the disease, no clear guidelines on how to follow THC2 patients over the long term have been established. We recommend a monthly complete blood count and clinical visits every 3 months at a minimum.</description><subject>Case Report</subject><subject>Case reports</subject><subject>Chromosome Breakage</subject><subject>Chromosome Disorders - genetics</subject><subject>Chromosome Disorders - pathology</subject><subject>Erythrocytes</subject><subject>Genetic Predisposition to Disease</subject><subject>Germ-Line Mutation</subject><subject>Humans</subject><subject>Intercellular Signaling Peptides and Proteins - genetics</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Myelodysplastic syndromes</subject><subject>Myelodysplastic Syndromes - diagnosis</subject><subject>Patients</subject><subject>Thrombocytopenia</subject><subject>Thrombocytopenia - congenital</subject><subject>Thrombocytopenia - genetics</subject><subject>Thrombocytopenia - pathology</subject><issn>2324-7096</issn><issn>2324-7096</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><sourceid>AFRWT</sourceid><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNp1kU1v1DAQhi1ERatt75yQJS5cAv7IJs4FqSxQKlpasUWIU-TE442rxE7tuFJ-RP8zXm0ppRK-jPXOM-_MaBB6SclbSsvyHeMsL0lVMFJxUeX0GTrYStlWe_7ov4-OQrgm6Yklo2X1Au1zVlDBiDhAd6e2A28mUPiq825oXDtPbgRrJF7JGJLezPgE_NAbC_j429fvH1mBz-MkJ-MsXncu9gp_ALxyNhgFPlUYi3-5aDf4MkFgp4B_mqnD6xhGaLetzmfonZrD2MswmRavZ6tSczhEe1r2AY7u4wL9-PzpavUlO7s4OV0dn2VtXrApAw2cqYY2TMiioIwvaVHlWhNBaRK4zJXWWsiWaUn1shBKAFdSC0arpiCcL9D7ne8YmwFUm2b0sq9Hbwbp59pJU_-bsaarN-62LvOKszJPBm_uDby7iRCmejChhb6XFlwMNcsZoTyNViX09RP02kVv03qJKnnJmEhhgciOar0LwYN-GIaSenvu-um5U8mrx0s8FPw5bgKyHRDkBv52_a_hb-JqtDw</recordid><startdate>2020</startdate><enddate>2020</enddate><creator>Kewan, Tariq</creator><creator>Noss, Ryan</creator><creator>Godley, Lucy A.</creator><creator>Rogers, Heesun J.</creator><creator>Carraway, Hetty E.</creator><general>SAGE Publications</general><general>Sage Publications Ltd</general><scope>AFRWT</scope><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>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>2020</creationdate><title>Inherited Thrombocytopenia Caused by Germline ANKRD26 Mutation Should Be Considered in Young Patients With Suspected Myelodysplastic Syndrome</title><author>Kewan, Tariq ; Noss, Ryan ; Godley, Lucy A. ; Rogers, Heesun J. ; Carraway, Hetty E.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c462t-efe32db1b28a6612351694ff0811a663a4dfff8ac2fa1f568d8e3daf8219b6033</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Case Report</topic><topic>Case reports</topic><topic>Chromosome Breakage</topic><topic>Chromosome Disorders - genetics</topic><topic>Chromosome Disorders - pathology</topic><topic>Erythrocytes</topic><topic>Genetic Predisposition to Disease</topic><topic>Germ-Line Mutation</topic><topic>Humans</topic><topic>Intercellular Signaling Peptides and Proteins - genetics</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Mutation</topic><topic>Myelodysplastic syndromes</topic><topic>Myelodysplastic Syndromes - diagnosis</topic><topic>Patients</topic><topic>Thrombocytopenia</topic><topic>Thrombocytopenia - congenital</topic><topic>Thrombocytopenia - genetics</topic><topic>Thrombocytopenia - pathology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Kewan, Tariq</creatorcontrib><creatorcontrib>Noss, Ryan</creatorcontrib><creatorcontrib>Godley, Lucy A.</creatorcontrib><creatorcontrib>Rogers, Heesun J.</creatorcontrib><creatorcontrib>Carraway, Hetty E.</creatorcontrib><collection>Sage Journals GOLD Open Access 2024</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</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>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>JIM - high impact case reports</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Kewan, Tariq</au><au>Noss, Ryan</au><au>Godley, Lucy A.</au><au>Rogers, Heesun J.</au><au>Carraway, Hetty E.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Inherited Thrombocytopenia Caused by Germline ANKRD26 Mutation Should Be Considered in Young Patients With Suspected Myelodysplastic Syndrome</atitle><jtitle>JIM - high impact case reports</jtitle><addtitle>J Investig Med High Impact Case Rep</addtitle><date>2020</date><risdate>2020</risdate><volume>8</volume><spage>2324709620938941</spage><epage>2324709620938941</epage><pages>2324709620938941-2324709620938941</pages><issn>2324-7096</issn><eissn>2324-7096</eissn><abstract>Thrombocytopenia 2 (THC2) is an autosomal dominant disorder characterized by ankyrin repeat domain 26 mutation and moderate thrombocytopenia. THC2 exposes patients to a low risk of bleeding and an increased likelihood of myelodysplastic syndrome/acute myeloid leukemia. Germline evaluation for a genetic disorder should be considered when a patient presents with isolated thrombocytopenia and associated dysmegakaryopoiesis. In this case report, we present a male patient who presented with isolated thrombocytopenia but was ultimately confirmed to have an inherited THC2 thrombocytopenia/myelodysplastic syndrome. Given the rarity of the disease, no clear guidelines on how to follow THC2 patients over the long term have been established. We recommend a monthly complete blood count and clinical visits every 3 months at a minimum.</abstract><cop>Los Angeles, CA</cop><pub>SAGE Publications</pub><pmid>32618208</pmid><doi>10.1177/2324709620938941</doi><oa>free_for_read</oa></addata></record> |
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| subjects | Case Report Case reports Chromosome Breakage Chromosome Disorders - genetics Chromosome Disorders - pathology Erythrocytes Genetic Predisposition to Disease Germ-Line Mutation Humans Intercellular Signaling Peptides and Proteins - genetics Male Middle Aged Mutation Myelodysplastic syndromes Myelodysplastic Syndromes - diagnosis Patients Thrombocytopenia Thrombocytopenia - congenital Thrombocytopenia - genetics Thrombocytopenia - pathology |
| title | Inherited Thrombocytopenia Caused by Germline ANKRD26 Mutation Should Be Considered in Young Patients With Suspected Myelodysplastic Syndrome |
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