Gastrointestinal stromal tumors

Miettinen M, Lasota J (2006) Gastrointestinal stromal tumors: pathology and prognosis at different sites. Semin Diagn Pathol 23:70–83

Wardelmann E, Merkelbach-Bruse S, Pauls K et al (2006) Polyclonal evolution of multiple secondary KIT mutations in gastrointestinal stromal tumors under treatment with imatinib mesylate. Clin Cancer Res 12(6):1743–1749. https://doi.org/10.1158/1078-0432.CCR-05-1211

Reith J, Goldblum J, Lyles R et al (2000) Extragastrointestinal (soft tissue) stromal tumors: an analysis of 48 cases with emphasis on histologic predictors of outcome. Mod Pathol 13:577–585

Liegl B, Hornick JL, Corless CL et al (2009) Monoclonal antibody DOG1.1 shows higher sensitivity than KIT in the diagnosis of gastrointestinal stromal tumors, including unusual subtypes. Am J Surg Pathol 33:437–446

Pantaleo MA, Urbini M, Schipani A et al (2022) SDHA germline variants in adult patients with SDHA-mutant gastrointestinal stromal tumor. Front Oncol 11:778461

Nishida T, Hølmebakk T, Raut CP et al (2019) Defining tumor rupture in gastrointestinal stromal tumor. Ann Surg Oncol 26(6):1669–1675. https://doi.org/10.1245/s10434-019-07297-9

Joensuu H, Vehtari A, Riihimäki J et al (2012) Risk of recurrence of gastrointestinal stromal tumour after surgery: an analysis of pooled population-based cohorts. Lancet Oncol 13(3):265–274. https://doi.org/10.1016/S1470-2045(11)70299-6

Huss S, Künstlinger H, Wardelmann E et al (2013) A subset of gastrointestinal stromal tumors previously regarded as wild-type tumors carries somatic activating mutations in KIT exon 8 (p.D419del). Mod Pathol 26(7):1004–1012

Agaimy A, Wünsch PH, Hofstaedter F et al (2007) Minute gastric sclerosing stromal tumors (GIST tumorlets) are common in adults and frequently show c‑KIT mutations. Am J Surg Pathol 31:113–120

Kawanowa K, Sakuma Y, Sakurai S et al (2006) High incidence of microscopic gastrointestinal stromal tumors in the stomach. Hum Pathol 37:1527–1535

Rossi S, Gasparotto D, Toffolatti L et al (2010) Molecular and clinicopathologic characterization of gastrointestinal stromal tumors (GISTs) of small size. Am J Surg Pathol 34:1480–1491

Corless C, Barnett C, Heinrich M (2011) Gastrointestinal stromal tumours: origin and molecular oncology. Nat Rev Cancer 11:865–878. https://doi.org/10.1038/nrc3143

Huss S, Elges S, Trautmann M et al (2015) Classification of KIT/PDGFRA wild-type gastrointestinal stromal tumors: implications for therapy. Expert Rev Anticancer Ther 15(6):623–628

Brčić I, Argyropoulos A, Liegl-Atzwanger B (2021) Update on molecular genetics of gastrointestinal stromal tumors. Diagnostics 11(2):194. https://doi.org/10.3390/diagnostics11020194

Hirota S, Isozaki K, Moriyama Y et al (1998) Gain-of-function mutations of c‑kit in human gastrointestinal stromal tumors. Science 279(5350):577–580. https://doi.org/10.1126/science.279.5350.577

Wardelmann E, Losen I, Hans V et al (2003) Deletion of Trp-557 and Lys-558 in the juxtamembrane domain of the c‑kit protooncogene is associated with metastatic behavior of gastrointestinal stromal tumors. Int J Cancer 106(6):887–895. https://doi.org/10.1002/ijc.11323

Antonescu C, Sommer G, Sarran L et al (2003) Association of KIT exon 9 mutations with nongastric primary site and aggressive behavior: KIT mutation analysis and clinical correlates of 120 gastrointestinal stromal tumors. Clin Cancer Res 9:3329–3337

Joensuu H, Wardelmann E, Eriksson M et al (2023) KIT and PDGFRA mutations and survival of gastrointestinal stromal tumor patients treated with adjuvant imatinib in a randomized trial. Clin Cancer Res 29(17):3313–3319. https://doi.org/10.1158/1078-0432.CCR-22-3980

Wardelmann E, Neidt I, Bierhoff E et al (2002) c‑kit mutations in gastrointestinal stromal tumors occur preferentially in the spindle rather than in the epithelioid cell variant. Mod Pathol 15(2):125–136. https://doi.org/10.1038/modpathol.3880504

Wardelmann E, Hrychyk A, Merkelbach-Bruse S et al (2004) Association of platelet-derived growth factor receptor alpha mutations with gastric primary site and epithelioid or mixed cell morphology in gastrointestinal stromal tumors. J Mol Diagn 6(3):197–204. https://doi.org/10.1016/s1525-1578(10)60510-7

Huss S, Pasternack H, Ihle MA et al (2017) Clinicopathological and molecular features of a large cohort of gastrointestinal stromal tumors (GISTs) and review of the literature: BRAF mutations in KIT/PDGFRA wild-type GISTs are rare events. Hum Pathol 62:206–214. https://doi.org/10.1016/j.humpath.2017.01.005

Hechtman JF, Zehir A, Mitchell T et al (2015) Novel oncogene and tumor suppressor mutations in KIT and PDGFRA wild type gastrointestinal stromal tumors revealed by next generation sequencing. Genes Chromosomes Cancer 54(3):177–184. https://doi.org/10.1002/gcc.22230

Gopie P, Mei L, Faber AC et al (2018) Classification of gastrointestinal stromal tumor syndromes. Endocr Relat Cancer 25(2):R49–R58. https://doi.org/10.1530/ERC-17-0329

Ricci R (2016) Syndromic gastrointestinal stromal tumors. Hered Cancer Clin Pract 14:15. https://doi.org/10.1186/s13053-016-0055-4

Brodey A, Kounnis V, Hawkes L et al (2022) KIT-associated familial GIST syndrome: response to tyrosine kinase inhibitors and implications for risk management. Oncologist 27(8):615–620. https://doi.org/10.1093/oncolo/oyac120

Martin-Broto J, Gutierrez A, Garcia-Del-Muro X et al (2010) Prognostic time dependence of deletions affecting codons 557 and/or 558 of KIT gene for relapse-free survival (RFS) in localized GIST: a Spanish Group for Sarcoma Research (GEIS) Study. Ann Oncol 21(7):1552–1557. https://doi.org/10.1093/annonc/mdq047

Ricci R, Martini M, Cenci T et al (2015) PDGFRA-mutant syndrome. Mod Pathol 28(7):954–964. https://doi.org/10.1038/modpathol.2015.56

Manley PN, Abu-Abed S, Kirsch R et al (2018) Familial PDGFRA-mutation syndrome: somatic and gastrointestinal phenotype. Hum Pathol 76:52–57. https://doi.org/10.1016/j.humpath.2018.02.014

Karnoub AE, Weinberg RA (2008) Ras oncogenes: split personalities. Nat Rev Mol Cell Biol 9(7):517–531. https://doi.org/10.1038/nrm2438

Mandelker D, Marra A, Mehta N et al (2023) Expanded genetic testing of GIST patients identifies high proportion of non-syndromic patients with germline alterations. NPJ Precis Oncol 7(1):1. https://doi.org/10.1038/s41698-022-00342-z

Pitsava G, Settas N, Faucz FR et al (2021) Carney triad, Carney-Stratakis syndrome, 3PAS and other tumors due to SDH deficiency. Front Endocrinol 12:680609. https://doi.org/10.3389/fendo.2021.680609

Schipani A, Nannini M, Astolfi A et al (2023) SDHA germline mutations in SDH-deficient GISTs: a current update. Genes 14(3):646. https://doi.org/10.3390/genes14030646

Debiec-Rychter M, Sciot R, Le Cesne A et al (2006) KIT mutations and dose selection for imatinib in patients with advanced gastrointestinal stromal tumours. Eur J Cancer 42:1093–1103

Heinrich MC, Owzar K, Corless CL et al (2008) Correlation of kinase genotype and clinical outcome in the North American intergroup phase III trial of imatinib mesylate for treatment of advanced gastrointestinal stromal tumor: CALGB 150105 study by cancer and leukemia group B and southwest oncology group. J Clin Oncol 26:5360–5367

Casali PG, Blay JY, Abecassis N et al (2022) Gastrointestinal stromal tumours: ESMO-EURACAN-GENTURIS clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol 33(1):20–33. https://doi.org/10.1016/j.annonc.2021.09.005

Cassier PA, Fumagalli E, Rutkowski P et al (2012) Outcome of patients with platelet-derived growth factor receptor alpha-mutated gastrointestinal stromal tumors in the tyrosine kinase inhibitor era. Clin Cancer Res 18(16):4458–4464