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Gastrointestinal stromal tumor, familial

MedGen UID:
436218
Concept ID:
C2674636
Disease or Syndrome
Synonym: GASTROINTESTINAL STROMAL TUMOR, FAMILIAL
 
OMIM®: 164920

Definition

An inherited condition caused by autosomal dominant mutation(s) in the KIT or PDGFRA genes, encoding mast/stem cell growth factor receptor Kit and platelet derived growth factor receptor alpha respectively. The condition is characterized by the occurrence of multiple gastrointestinal stromal tumors (GIST). [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGastrointestinal stromal tumor, familial

Professional guidelines

PubMed

Jahn A, Rump A, Widmann TJ, Heining C, Horak P, Hutter B, Paramasivam N, Uhrig S, Gieldon L, Drukewitz S, Kübler A, Bermudez M, Hackmann K, Porrmann J, Wagner J, Arlt M, Franke M, Fischer J, Kowalzyk Z, William D, Weth V, Oster S, Fröhlich M, Hüllein J, Valle González C, Kreutzfeldt S, Mock A, Heilig CE, Lipka DB, Möhrmann L, Hanf D, Oleś M, Teleanu V, Allgäuer M, Ruhnke L, Kutz O, Knurr A, Laßmann A, Endris V, Neumann O, Penzel R, Beck K, Richter D, Winter U, Wolf S, Pfütze K, Geörg C, Meißburger B, Buchhalter I, Augustin M, Aulitzky WE, Hohenberger P, Kroiss M, Schirmacher P, Schlenk RF, Keilholz U, Klauschen F, Folprecht G, Bauer S, Siveke JT, Brandts CH, Kindler T, Boerries M, Illert AL, von Bubnoff N, Jost PJ, Metzeler KH, Bitzer M, Schulze-Osthoff K, von Kalle C, Brors B, Stenzinger A, Weichert W, Hübschmann D, Fröhling S, Glimm H, Schröck E, Klink B
Ann Oncol 2022 Nov;33(11):1186-1199. Epub 2022 Aug 18 doi: 10.1016/j.annonc.2022.07.008. PMID: 35988656
Kelly CM, Gutierrez Sainz L, Chi P
J Hematol Oncol 2021 Jan 5;14(1):2. doi: 10.1186/s13045-020-01026-6. PMID: 33402214Free PMC Article
Miettinen M, Lasota J
Arch Pathol Lab Med 2006 Oct;130(10):1466-78. doi: 10.5858/2006-130-1466-GSTROM. PMID: 17090188

Curated

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Gastrointestinal Stromal Tumors, 2023

Recent clinical studies

Etiology

Ballinger ML, Pattnaik S, Mundra PA, Zaheed M, Rath E, Priestley P, Baber J, Ray-Coquard I, Isambert N, Causeret S, van der Graaf WTA, Puri A, Duffaud F, Le Cesne A, Seddon B, Chandrasekar C, Schiffman JD, Brohl AS, James PA, Kurtz JE, Penel N, Myklebost O, Meza-Zepeda LA, Pickett H, Kansara M, Waddell N, Kondrashova O, Pearson JV, Barbour AP, Li S, Nguyen TL, Fatkin D, Graham RM, Giannoulatou E, Green MJ, Kaplan W, Ravishankar S, Copty J, Powell JE, Cuppen E, van Eijk K, Veldink J, Ahn JH, Kim JE, Randall RL, Tucker K, Judson I, Sarin R, Ludwig T, Genin E, Deleuze JF; French Exome Project Consortium, Haber M, Marshall G, Cairns MJ, Blay JY; International Sarcoma Kindred Study, Thomas DM, Tattersall M, Neuhaus S, Lewis C, Tucker K, Carey-Smith R, Wood D, Porceddu S, Dickinson I, Thorne H, James P, Ray-Coquard I, Blay JY, Cassier P, Le Cesne A, Duffaud F, Penel N, Isambert N, Kurtz JE, Puri A, Sarin R, Ahn JH, Kim JE, Ward I, Judson I, van der Graaf W, Seddon B, Chandrasekar C, Rickar R, Hennig I, Schiffman J, Randall RL, Silvestri A, Zaratzian A, Tayao M, Walwyn K, Niedermayr E, Mang D, Clark R, Thorpe T, MacDonald J, Riddell K, Mar J, Fennelly V, Wicht A, Zielony B, Galligan E, Glavich G, Stoeckert J, Williams L, Djandjgava L, Buettner I, Osinki C, Stephens S, Rogasik M, Bouclier L, Girodet M, Charreton A, Fayet Y, Crasto S, Sandupatla B, Yoon Y, Je N, Thompson L, Fowler T, Johnson B, Petrikova G, Hambridge T, Hutchins A, Bottero D, Scanlon D, Stokes-Denson J, Génin E, Campion D, Dartigues JF, Deleuze JF, Lambert JC, Redon R, Ludwig T, Grenier-Boley B, Letort S, Lindenbaum P, Meyer V, Quenez O, Dina C, Bellenguez C, Le Clézio CC, Giemza J, Chatel S, Férec C, Le Marec H, Letenneur L, Nicolas G, Rouault K
Science 2023 Jan 20;379(6629):253-260. Epub 2023 Jan 19 doi: 10.1126/science.abj4784. PMID: 36656928
Jahn A, Rump A, Widmann TJ, Heining C, Horak P, Hutter B, Paramasivam N, Uhrig S, Gieldon L, Drukewitz S, Kübler A, Bermudez M, Hackmann K, Porrmann J, Wagner J, Arlt M, Franke M, Fischer J, Kowalzyk Z, William D, Weth V, Oster S, Fröhlich M, Hüllein J, Valle González C, Kreutzfeldt S, Mock A, Heilig CE, Lipka DB, Möhrmann L, Hanf D, Oleś M, Teleanu V, Allgäuer M, Ruhnke L, Kutz O, Knurr A, Laßmann A, Endris V, Neumann O, Penzel R, Beck K, Richter D, Winter U, Wolf S, Pfütze K, Geörg C, Meißburger B, Buchhalter I, Augustin M, Aulitzky WE, Hohenberger P, Kroiss M, Schirmacher P, Schlenk RF, Keilholz U, Klauschen F, Folprecht G, Bauer S, Siveke JT, Brandts CH, Kindler T, Boerries M, Illert AL, von Bubnoff N, Jost PJ, Metzeler KH, Bitzer M, Schulze-Osthoff K, von Kalle C, Brors B, Stenzinger A, Weichert W, Hübschmann D, Fröhling S, Glimm H, Schröck E, Klink B
Ann Oncol 2022 Nov;33(11):1186-1199. Epub 2022 Aug 18 doi: 10.1016/j.annonc.2022.07.008. PMID: 35988656
Rednam SP, Erez A, Druker H, Janeway KA, Kamihara J, Kohlmann WK, Nathanson KL, States LJ, Tomlinson GE, Villani A, Voss SD, Schiffman JD, Wasserman JD
Clin Cancer Res 2017 Jun 15;23(12):e68-e75. doi: 10.1158/1078-0432.CCR-17-0547. PMID: 28620007
Joensuu H, Hohenberger P, Corless CL
Lancet 2013 Sep 14;382(9896):973-83. Epub 2013 Apr 24 doi: 10.1016/S0140-6736(13)60106-3. PMID: 23623056
Raygada M, Pasini B, Stratakis CA
Adv Otorhinolaryngol 2011;70:99-106. Epub 2011 Feb 24 doi: 10.1159/000322484. PMID: 21358191Free PMC Article

Diagnosis

von Mehren M, Kane JM, Riedel RF, Sicklick JK, Pollack SM, Agulnik M, Bui MM, Carr-Ascher J, Choy E, Connelly M, Dry S, Ganjoo KN, Gonzalez RJ, Holder A, Homsi J, Keedy V, Kelly CM, Kim E, Liebner D, McCarter M, McGarry SV, Mesko NW, Meyer C, Pappo AS, Parkes AM, Petersen IA, Poppe M, Schuetze S, Shabason J, Spraker MB, Zimel M, Bergman MA, Sundar H, Hang LE
J Natl Compr Canc Netw 2022 Nov;20(11):1204-1214. doi: 10.6004/jnccn.2022.0058. PMID: 36351335Free PMC Article
Kelly CM, Gutierrez Sainz L, Chi P
J Hematol Oncol 2021 Jan 5;14(1):2. doi: 10.1186/s13045-020-01026-6. PMID: 33402214Free PMC Article
von Mehren M, Kane JM, Bui MM, Choy E, Connelly M, Dry S, Ganjoo KN, George S, Gonzalez RJ, Heslin MJ, Homsi J, Keedy V, Kelly CM, Kim E, Liebner D, McCarter M, McGarry SV, Meyer C, Pappo AS, Parkes AM, Paz IB, Petersen IA, Poppe M, Riedel RF, Rubin B, Schuetze S, Shabason J, Sicklick JK, Spraker MB, Zimel M, Bergman MA, George GV
J Natl Compr Canc Netw 2020 Dec 2;18(12):1604-1612. doi: 10.6004/jnccn.2020.0058. PMID: 33285515
Joensuu H, Hohenberger P, Corless CL
Lancet 2013 Sep 14;382(9896):973-83. Epub 2013 Apr 24 doi: 10.1016/S0140-6736(13)60106-3. PMID: 23623056
Miettinen M, Lasota J
Arch Pathol Lab Med 2006 Oct;130(10):1466-78. doi: 10.5858/2006-130-1466-GSTROM. PMID: 17090188

Therapy

Jahn A, Rump A, Widmann TJ, Heining C, Horak P, Hutter B, Paramasivam N, Uhrig S, Gieldon L, Drukewitz S, Kübler A, Bermudez M, Hackmann K, Porrmann J, Wagner J, Arlt M, Franke M, Fischer J, Kowalzyk Z, William D, Weth V, Oster S, Fröhlich M, Hüllein J, Valle González C, Kreutzfeldt S, Mock A, Heilig CE, Lipka DB, Möhrmann L, Hanf D, Oleś M, Teleanu V, Allgäuer M, Ruhnke L, Kutz O, Knurr A, Laßmann A, Endris V, Neumann O, Penzel R, Beck K, Richter D, Winter U, Wolf S, Pfütze K, Geörg C, Meißburger B, Buchhalter I, Augustin M, Aulitzky WE, Hohenberger P, Kroiss M, Schirmacher P, Schlenk RF, Keilholz U, Klauschen F, Folprecht G, Bauer S, Siveke JT, Brandts CH, Kindler T, Boerries M, Illert AL, von Bubnoff N, Jost PJ, Metzeler KH, Bitzer M, Schulze-Osthoff K, von Kalle C, Brors B, Stenzinger A, Weichert W, Hübschmann D, Fröhling S, Glimm H, Schröck E, Klink B
Ann Oncol 2022 Nov;33(11):1186-1199. Epub 2022 Aug 18 doi: 10.1016/j.annonc.2022.07.008. PMID: 35988656
Roskoski R Jr
Pharmacol Res 2021 Mar;165:105463. Epub 2021 Jan 26 doi: 10.1016/j.phrs.2021.105463. PMID: 33513356
Kelly CM, Gutierrez Sainz L, Chi P
J Hematol Oncol 2021 Jan 5;14(1):2. doi: 10.1186/s13045-020-01026-6. PMID: 33402214Free PMC Article
Roskoski R Jr
Pharmacol Res 2018 Mar;129:65-83. Epub 2018 Feb 3 doi: 10.1016/j.phrs.2018.01.021. PMID: 29408302
Joensuu H, Hohenberger P, Corless CL
Lancet 2013 Sep 14;382(9896):973-83. Epub 2013 Apr 24 doi: 10.1016/S0140-6736(13)60106-3. PMID: 23623056

Prognosis

Yu L, Cao C, Li X, Zhang M, Gu Q, Gao H, Balic JJ, Xu D, Zhang L, Ying L, Xu D, Yang Y, Wu D, He B, Jenkins BJ, Liu Y, Li J
Oncogene 2022 Jan;41(1):26-36. Epub 2021 Oct 19 doi: 10.1038/s41388-021-02067-y. PMID: 34667277Free PMC Article
Yuan J, Xie A, Cao Q, Li X, Chen J
Biomed Res Int 2020;2020:6909672. Epub 2020 Oct 6 doi: 10.1155/2020/6909672. PMID: 33083477Free PMC Article
Núñez-Martín R, Cubedo Cervera R, Provencio Pulla M
Med Clin (Barc) 2017 Oct 23;149(8):345-350. Epub 2017 Jul 21 doi: 10.1016/j.medcli.2017.06.010. PMID: 28736068
Raygada M, Pasini B, Stratakis CA
Adv Otorhinolaryngol 2011;70:99-106. Epub 2011 Feb 24 doi: 10.1159/000322484. PMID: 21358191Free PMC Article
Miettinen M, Lasota J
Arch Pathol Lab Med 2006 Oct;130(10):1466-78. doi: 10.5858/2006-130-1466-GSTROM. PMID: 17090188

Clinical prediction guides

Jahn A, Rump A, Widmann TJ, Heining C, Horak P, Hutter B, Paramasivam N, Uhrig S, Gieldon L, Drukewitz S, Kübler A, Bermudez M, Hackmann K, Porrmann J, Wagner J, Arlt M, Franke M, Fischer J, Kowalzyk Z, William D, Weth V, Oster S, Fröhlich M, Hüllein J, Valle González C, Kreutzfeldt S, Mock A, Heilig CE, Lipka DB, Möhrmann L, Hanf D, Oleś M, Teleanu V, Allgäuer M, Ruhnke L, Kutz O, Knurr A, Laßmann A, Endris V, Neumann O, Penzel R, Beck K, Richter D, Winter U, Wolf S, Pfütze K, Geörg C, Meißburger B, Buchhalter I, Augustin M, Aulitzky WE, Hohenberger P, Kroiss M, Schirmacher P, Schlenk RF, Keilholz U, Klauschen F, Folprecht G, Bauer S, Siveke JT, Brandts CH, Kindler T, Boerries M, Illert AL, von Bubnoff N, Jost PJ, Metzeler KH, Bitzer M, Schulze-Osthoff K, von Kalle C, Brors B, Stenzinger A, Weichert W, Hübschmann D, Fröhling S, Glimm H, Schröck E, Klink B
Ann Oncol 2022 Nov;33(11):1186-1199. Epub 2022 Aug 18 doi: 10.1016/j.annonc.2022.07.008. PMID: 35988656
Yuan J, Xie A, Cao Q, Li X, Chen J
Biomed Res Int 2020;2020:6909672. Epub 2020 Oct 6 doi: 10.1155/2020/6909672. PMID: 33083477Free PMC Article
Ricci R, Martini M, Cenci T, Carbone A, Lanza P, Biondi A, Rindi G, Cassano A, Larghi A, Persiani R, Larocca LM
Mod Pathol 2015 Jul;28(7):954-64. Epub 2015 May 15 doi: 10.1038/modpathol.2015.56. PMID: 25975287
Rini BI
Expert Opin Pharmacother 2007 Oct;8(14):2359-69. doi: 10.1517/14656566.8.14.2359. PMID: 17927489
Miettinen M, Lasota J
Arch Pathol Lab Med 2006 Oct;130(10):1466-78. doi: 10.5858/2006-130-1466-GSTROM. PMID: 17090188

Recent systematic reviews

Bellefkih FZ, Benchakroun N, Lalya I, Amaoui B, El Kacemi H, Acharki A, El Hfid M, El Mazghi A, Chekrine T, Bouchbika Z, Jouhadi H, Sahraoui S, Tawfiq N, Michalet M
Cancer Radiother 2023 Sep;27(6-7):622-637. Epub 2023 Jul 25 doi: 10.1016/j.canrad.2023.06.010. PMID: 37500390
Benesch M, Wardelmann E, Ferrari A, Brennan B, Verschuur A
Pediatr Blood Cancer 2009 Dec 15;53(7):1171-9. doi: 10.1002/pbc.22123. PMID: 19499582

Supplemental Content

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    Genetic Testing Registry

    Clinical resources

    Practice guidelines

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    Curated

    • NCCN, 2023
      NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Gastrointestinal Stromal Tumors, 2023

    Consumer resources

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