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Gastrointestinal stromal tumor, familial

MedGen UID:
436218
Concept ID:
C2674636
Neoplastic Process
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
Ricci R, Martini M, Cenci T, Riccioni ME, Maria G, Cassano A, Larocca LM
Cancer Genet 2016 Jul-Aug;209(7-8):354-8. Epub 2016 May 27 doi: 10.1016/j.cancergen.2016.05.073. PMID: 27318444
Nicolas G, Kfoury T, Shimlati R, Tohmeh M, Wakim R
Am J Case Rep 2016 Jun 9;17:389-94. doi: 10.12659/ajcr.898122. PMID: 27279600Free PMC Article
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
El-Rifai W, Powell SM
Semin Radiat Oncol 2002 Apr;12(2):128-40. doi: 10.1053/srao.2002.30815. PMID: 11979414

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
Demetri GD, Blay JY, Casali PG
Future Oncol 2017 Jan;13(1s):3-11. doi: 10.2217/fon-2016-0498. PMID: 27918199
Liang J, Wu YL, Chen BJ, Zhang W, Tanaka Y, Sugiyama H
Int J Biol Sci 2013;9(5):435-43. Epub 2013 May 8 doi: 10.7150/ijbs.6087. PMID: 23678293Free PMC Article
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

Therapy

Takaki EO, Kiyono K, Obuchi Y, Yamauchi T, Watanabe T, Matsumoto H, Karimine M, Kuniyoshi Y, Nishikori S, Yokoyama F, Nishimori H, Nabeshima H, Nakamura K
Clin Cancer Res 2024 Aug 15;30(16):3603-3621. doi: 10.1158/1078-0432.CCR-24-0096. PMID: 38864850Free 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
Demetri GD, Blay JY, Casali PG
Future Oncol 2017 Jan;13(1s):3-11. doi: 10.2217/fon-2016-0498. PMID: 27918199
von Mehren M, Randall RL, Benjamin RS, Boles S, Bui MM, Casper ES, Conrad EU 3rd, DeLaney TF, Ganjoo KN, George S, Gonzalez RJ, Heslin MJ, Kane JM 3rd, Mayerson J, McGarry SV, Meyer C, O'Donnell RJ, Pappo AS, Paz IB, Pfeifer JD, Riedel RF, Schuetze S, Schupak KD, Schwartz HS, Van Tine BA, Wayne JD, Bergman MA, Sundar H
J Natl Compr Canc Netw 2014 Jun;12(6):853-62. doi: 10.6004/jnccn.2014.0080. PMID: 24925196
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

Zhang J, Fu L, Wang H, Yonemura A, Semba T, Yasuda-Yoshihara N, Nishimura A, Tajiri T, Tong Y, Yasuda T, Uchihara T, Yamazaki M, Okamoto Y, Yamasaki J, Nagano O, Baba H, Ishimoto T
Cancer Lett 2024 Jun 1;591:216901. Epub 2024 Apr 17 doi: 10.1016/j.canlet.2024.216901. PMID: 38641311
Ricci R, Saragoni L
Pathologica 2016 Sep;108(3):90-103. PMID: 28195260
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
El-Rifai W, Powell SM
Semin Radiat Oncol 2002 Apr;12(2):128-40. doi: 10.1053/srao.2002.30815. PMID: 11979414

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
Yousefian M, Ghodsi R
Arch Pharm (Weinheim) 2020 Dec;353(12):e2000022. Epub 2020 Sep 3 doi: 10.1002/ardp.202000022. PMID: 32885522
Ricci R, Saragoni L
Pathologica 2016 Sep;108(3):90-103. PMID: 28195260
Miettinen M, Lasota J
Arch Pathol Lab Med 2006 Oct;130(10):1466-78. doi: 10.5858/2006-130-1466-GSTROM. PMID: 17090188
El-Rifai W, Powell SM
Semin Radiat Oncol 2002 Apr;12(2):128-40. doi: 10.1053/srao.2002.30815. PMID: 11979414

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

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    Curated

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

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