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  • C4733337 has been replaced by C2674636, showing C2674636

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

Comprehensive cancer predisposition testing within the prospective MASTER trial identifies hereditary cancer patients and supports treatment decisions for rare cancers.
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
The management of metastatic GIST: current standard and investigational therapeutics.
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
Gastrointestinal stromal tumors: review on morphology, molecular pathology, prognosis, and differential diagnosis.
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

Glycolysis in gastrointestinal stromal tumor: a brief overview.
Shima T, Taniguchi K, Inomata Y, Arima J, Lee SW
Neoplasia 2024 Sep;55:101022. Epub 2024 Jun 28 doi: 10.1016/j.neo.2024.101022. PMID: 38943997Free PMC Article
Heritable defects in telomere and mitotic function selectively predispose to sarcomas.
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
Comprehensive cancer predisposition testing within the prospective MASTER trial identifies hereditary cancer patients and supports treatment decisions for rare cancers.
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
Gastrointestinal stromal tumour.
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
Hereditary paragangliomas.
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

NCCN Guidelines® Insights: Gastrointestinal Stromal Tumors, Version 2.2022.
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
The management of metastatic GIST: current standard and investigational therapeutics.
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
PDGFRA-mutant syndrome.
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
Gastrointestinal stromal tumour.
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
Gastrointestinal stromal tumors: review on morphology, molecular pathology, prognosis, and differential diagnosis.
Miettinen M, Lasota J
Arch Pathol Lab Med 2006 Oct;130(10):1466-78. doi: 10.5858/2006-130-1466-GSTROM. PMID: 17090188

Therapy

Ripretinib versus sunitinib in gastrointestinal stromal tumor: ctDNA biomarker analysis of the phase 3 INTRIGUE trial.
Heinrich MC, Jones RL, George S, Gelderblom H, Schöffski P, von Mehren M, Zalcberg JR, Kang YK, Razak AA, Trent J, Attia S, Le Cesne A, Siontis BL, Goldstein D, Boye K, Sanchez C, Steeghs N, Rutkowski P, Druta M, Serrano C, Somaiah N, Chi P, Reichmann W, Sprott K, Achour H, Sherman ML, Ruiz-Soto R, Blay JY, Bauer S
Nat Med 2024 Feb;30(2):498-506. Epub 2024 Jan 5 doi: 10.1038/s41591-023-02734-5. PMID: 38182785Free PMC Article
Comprehensive cancer predisposition testing within the prospective MASTER trial identifies hereditary cancer patients and supports treatment decisions for rare cancers.
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
The management of metastatic GIST: current standard and investigational therapeutics.
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
Gastrointestinal stromal tumour.
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
Sunitinib.
Rini BI
Expert Opin Pharmacother 2007 Oct;8(14):2359-69. doi: 10.1517/14656566.8.14.2359. PMID: 17927489

Prognosis

Glycolysis in gastrointestinal stromal tumor: a brief overview.
Shima T, Taniguchi K, Inomata Y, Arima J, Lee SW
Neoplasia 2024 Sep;55:101022. Epub 2024 Jun 28 doi: 10.1016/j.neo.2024.101022. PMID: 38943997Free PMC Article
Ripretinib versus sunitinib in gastrointestinal stromal tumor: ctDNA biomarker analysis of the phase 3 INTRIGUE trial.
Heinrich MC, Jones RL, George S, Gelderblom H, Schöffski P, von Mehren M, Zalcberg JR, Kang YK, Razak AA, Trent J, Attia S, Le Cesne A, Siontis BL, Goldstein D, Boye K, Sanchez C, Steeghs N, Rutkowski P, Druta M, Serrano C, Somaiah N, Chi P, Reichmann W, Sprott K, Achour H, Sherman ML, Ruiz-Soto R, Blay JY, Bauer S
Nat Med 2024 Feb;30(2):498-506. Epub 2024 Jan 5 doi: 10.1038/s41591-023-02734-5. PMID: 38182785Free PMC Article
Gastrointestinal stromal tumour and second tumours: A literature review.
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
Hereditary paragangliomas.
Raygada M, Pasini B, Stratakis CA
Adv Otorhinolaryngol 2011;70:99-106. Epub 2011 Feb 24 doi: 10.1159/000322484. PMID: 21358191Free PMC Article
Gastrointestinal stromal tumors: review on morphology, molecular pathology, prognosis, and differential diagnosis.
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

Ripretinib versus sunitinib in gastrointestinal stromal tumor: ctDNA biomarker analysis of the phase 3 INTRIGUE trial.
Heinrich MC, Jones RL, George S, Gelderblom H, Schöffski P, von Mehren M, Zalcberg JR, Kang YK, Razak AA, Trent J, Attia S, Le Cesne A, Siontis BL, Goldstein D, Boye K, Sanchez C, Steeghs N, Rutkowski P, Druta M, Serrano C, Somaiah N, Chi P, Reichmann W, Sprott K, Achour H, Sherman ML, Ruiz-Soto R, Blay JY, Bauer S
Nat Med 2024 Feb;30(2):498-506. Epub 2024 Jan 5 doi: 10.1038/s41591-023-02734-5. PMID: 38182785Free PMC Article
Comprehensive cancer predisposition testing within the prospective MASTER trial identifies hereditary cancer patients and supports treatment decisions for rare cancers.
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
PDGFRA-mutant syndrome.
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
Sunitinib.
Rini BI
Expert Opin Pharmacother 2007 Oct;8(14):2359-69. doi: 10.1517/14656566.8.14.2359. PMID: 17927489
Gastrointestinal stromal tumors: review on morphology, molecular pathology, prognosis, and differential diagnosis.
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

Radiotherapy in the management of rare gastrointestinal cancers: A systematic review.
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
Gastrointestinal stromal tumors (GIST) in children and adolescents: A comprehensive review of the current literature.
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

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    Reviews

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