|
1
|
Corless CL, Barnett CM and Heinrich MC:
Gastrointestinal stromal tumours: Origin and molecular oncology.
Nat Rev Cancer. 11:865–878. 2011.PubMed/NCBI
|
|
2
|
Joensuu H, Hohenberger P and Corless CL:
Gastrointestinal stromal tumour. Lancet. 382:973–983. 2013.
View Article : Google Scholar : PubMed/NCBI
|
|
3
|
Monges G, Bisot-Locard S, Blay JY, Bouvier
AM, Urbieta M, Coindre JM and Scoazec JY: The estimated incidence
of gastrointestinal stromal tumors in France. Results of PROGIST
study conducted among pathologists. Bull Cancer. 97:E16–E22.
2010.PubMed/NCBI
|
|
4
|
Emile JF, Brahimi S, Coindre JM, Bringuier
PP, Monges G, Samb P, Doucet L, Hostein I, Landi B, Buisine MP, et
al: Frequencies of KIT and PDGFRA mutations in the MolecGIST
prospective population-based study differ from those of advanced
GISTs. Med Oncol. 29:1765–1772. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
5
|
Sarlomo-Rikala M, Kovatich AJ,
Barusevicius A and Miettinen M: CD117: A sensitive marker for
gastrointestinal stromal tumors that is more specific than CD34.
Mod Pathol. 11:728–734. 1998.PubMed/NCBI
|
|
6
|
Hirota S, Isozaki K, Moriyama Y, Hashimoto
K, Nishida T, Ishiguro S, Kawano K, Hanada M, Kurata A, Takeda M,
et al: Gain-of-function mutations of c-kit in human
gastrointestinal stromal tumors. Science. 279:577–580. 1998.
View Article : Google Scholar : PubMed/NCBI
|
|
7
|
Heinrich MC, Corless CL, Duensing A,
McGreevey L, Chen CJ, Joseph N, Singer S, Griffith DJ, Haley A,
Town A, et al: PDGFRA activating mutations in gastrointestinal
stromal tumors. Science. 299:708–710. 2003. View Article : Google Scholar : PubMed/NCBI
|
|
8
|
Hirota S, Ohashi A, Nishida T, Isozaki K,
Kinoshita K, Shinomura Y and Kitamura Y: Gain-of-function mutations
of platelet-derived growth factor receptor α gene in
gastrointestinal stromal tumors. Gastroenterology. 125:660–667.
2003. View Article : Google Scholar : PubMed/NCBI
|
|
9
|
Nannini M, Biasco G, Astolfi A and
Pantaleo MA: An overview on molecular biology of KIT/PDGFRA wild
type (WT) gastrointestinal stromal tumours (GIST). J Med Genet.
50:653–661. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
10
|
Agaimy A, Terracciano LM, Dirnhofer S,
Tornillo L, Foerster A, Hartmann A and Bihl MP: V600E BRAF
mutations are alternative early molecular events in a subset of
KIT/PDGFRA wild-type gastrointestinal stromal tumours. J Clin
Pathol. 62:613–616. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
11
|
Agaram NP, Wong GC, Guo T, Maki RG, Singer
S, Dematteo RP, Besmer P and Antonescu CR: Novel V600E BRAF
mutations in imatinib-naive and imatinib-resistant gastrointestinal
stromal tumors. Genes Chromosomes Cancer. 47:853–859. 2008.
View Article : Google Scholar : PubMed/NCBI
|
|
12
|
Hostein I, Faur N, Primois C, Boury F,
Denard J, Emile JF, Bringuier PP, Scoazec JY and Coindre JM: BRAF
mutation status in gastrointestinal stromal tumors. Am J Clin
Pathol. 133:141–148. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
13
|
Miettinen M, Killian JK, Wang Z-F, Lasota
J, Lau C, Jones L, Walker R, Pineda M, Zhu YJ, Kim SY, et al:
Immunohistochemical loss of succinate dehydrogenase subunit A
(SDHA) in gastrointestinal stromal tumors (GISTs) signals SDHA
germline mutation. Am J Surg Pathol. 37:234–240. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
14
|
Jones DH, Caracciolo JT, Hodul PJ,
Strosberg JR, Coppola D and Bui MM: Familial gastrointestinal
stromal tumor syndrome: Report of 2 cases with KIT exon 11
mutation. Cancer Control. 22:102–108. 2015.PubMed/NCBI
|
|
15
|
Janeway KA, Kim SY, Lodish M, Nosé V,
Rustin P, Gaal J, Dahia PL, Liegl B, Ball ER, Raygada M, et al: NIH
Pediatric and Wild-Type GIST Clinic: Defects in succinate
dehydrogenase in gastrointestinal stromal tumors lacking KIT and
PDGFRA mutations. Proc Natl Acad Sci USA. 108:314–318. 2011.
View Article : Google Scholar : PubMed/NCBI
|
|
16
|
Pantaleo MA, Astolfi A, Urbini M, Nannini
M, Paterini P, Indio V, Saponara M, Formica S, Ceccarelli C,
Casadio R, et al: GIST Study Group: Analysis of all subunits, SDHA,
SDHB, SDHC, SDHD, of the succinate dehydrogenase complex in
KIT/PDGFRA wild-type GIST. Eur J Hum Genet. 22:32–39. 2014.
View Article : Google Scholar : PubMed/NCBI
|
|
17
|
Joensuu H, Vehtari A, Riihimäki J, Nishida
T, Steigen SE, Brabec P, Plank L, Nilsson B, Cirilli C, Braconi C,
et al: Risk of recurrence of gastrointestinal stromal tumour after
surgery: An analysis of pooled population-based cohorts. Lancet
Oncol. 13:265–274. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
18
|
Bischof DA, Kim Y, Dodson R, Jimenez MC,
Behman R, Cocieru A, Fisher SB, Groeschl RT, MH III Squires,
Maithel SK, et al: Conditional disease-free survival after surgical
resection of gastrointestinal stromal tumors: A multi-institutional
analysis of 502 patients. JAMA Surg. 150:299–306. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
19
|
Fletcher CDM, Berman JJ, Corless C,
Gorstein F, Lasota J, Longley BJ, Miettinen M, O'Leary TJ, Remotti
H, Rubin BP, et al: Diagnosis of gastrointestinal stromal tumors: A
consensus approach. Hum Pathol. 33:459–465. 2002. View Article : Google Scholar : PubMed/NCBI
|
|
20
|
Miettinen M and Lasota J: Gastrointestinal
stromal tumors: Pathology and prognosis at different sites. Semin
Diagn Pathol. 23:70–83. 2006. View Article : Google Scholar : PubMed/NCBI
|
|
21
|
Wozniak A, Rutkowski P, Piskorz A,
Ciwoniuk M, Osuch C, Bylina E, Sygut J, Chosia M, Rys J, Urbanczyk
K, et al: Polish Clinical GIST Registry: Prognostic value of
KIT/PDGFRA mutations in gastrointestinal stromal tumours (GIST):
Polish Clinical GIST Registry experience. Ann Oncol. 23:353–360.
2012. View Article : Google Scholar : PubMed/NCBI
|
|
22
|
Mol CD, Dougan DR, Schneider TR, Skene RJ,
Kraus ML, Scheibe DN, Snell GP, Zou H, Sang BC and Wilson KP:
Structural basis for the autoinhibition and STI-571 inhibition of
c-Kit tyrosine kinase. J Biol Chem. 279:31655–31663. 2004.
View Article : Google Scholar : PubMed/NCBI
|
|
23
|
Tuveson DA, Willis NA, Jacks T, Griffin
JD, Singer S, Fletcher CD, Fletcher JA and Demetri GD: STI571
inactivation of the gastrointestinal stromal tumor c-KIT
oncoprotein: Biological and clinical implications. Oncogene.
20:5054–5058. 2001. View Article : Google Scholar : PubMed/NCBI
|
|
24
|
Heinrich MC, Griffith DJ, Druker BJ, Wait
CL, Ott KA and Zigler AJ: Inhibition of c-kit receptor tyrosine
kinase activity by STI 571, a selective tyrosine kinase inhibitor.
Blood. 96:925–932. 2000.PubMed/NCBI
|
|
25
|
Demetri GD, von Mehren M, Blanke CD, van
den Abbeele AD, Eisenberg B, Roberts PJ, Heinrich MC, Tuveson DA,
Singer S, Janicek M, et al: Efficacy and safety of imatinib
mesylate in advanced gastrointestinal stromal tumors. N Engl J Med.
347:472–480. 2002. View Article : Google Scholar : PubMed/NCBI
|
|
26
|
Heinrich MC, Corless CL, Demetri GD,
Blanke CD, von Mehren M, Joensuu H, McGreevey LS, Chen CJ, van den
Abbeele AD, Druker BJ, et al: Kinase mutations and imatinib
response in patients with metastatic gastrointestinal stromal
tumor. J Clin Oncol. 21:4342–4349. 2003. View Article : Google Scholar : PubMed/NCBI
|
|
27
|
Heinrich MC, Maki RG, Corless CL,
Antonescu CR, Harlow A, Griffith D, Town A, McKinley A, Ou WB,
Fletcher JA, et al: Primary and secondary kinase genotypes
correlate with the biological and clinical activity of sunitinib in
imatinib-resistant gastrointestinal stromal tumor. J Clin Oncol.
26:5352–5359. 2008. View Article : Google Scholar : PubMed/NCBI
|
|
28
|
Chen LL, Trent JC, Wu EF, Fuller GN,
Ramdas L, Zhang W, Raymond AK, Prieto VG, Oyedeji CO, Hunt KK, et
al: A missense mutation in KIT kinase domain 1 correlates with
imatinib resistance in gastrointestinal stromal tumors. Cancer Res.
64:5913–5919. 2004. View Article : Google Scholar : PubMed/NCBI
|
|
29
|
Heinrich MC, Corless CL, Blanke CD,
Demetri GD, Joensuu H, Roberts PJ, Eisenberg BL, von Mehren M,
Fletcher CD, Sandau K, et al: Molecular correlates of imatinib
resistance in gastrointestinal stromal tumors. J Clin Oncol.
24:4764–4774. 2006. View Article : Google Scholar : PubMed/NCBI
|
|
30
|
Wardelmann E, Thomas N, Merkelbach-Bruse
S, Pauls K, Speidel N, Büttner R, Bihl H, Leutner CC, Heinicke T
and Hohenberger P: Acquired resistance to imatinib in
gastrointestinal stromal tumours caused by multiple KIT mutations.
Lancet Oncol. 6:249–251. 2005. View Article : Google Scholar : PubMed/NCBI
|
|
31
|
Liegl B, Kepten I, Le C, Zhu M, Demetri
GD, Heinrich MC, Fletcher CD, Corless CL and Fletcher JA:
Heterogeneity of kinase inhibitor resistance mechanisms in GIST. J
Pathol. 216:64–74. 2008. View Article : Google Scholar : PubMed/NCBI
|
|
32
|
Nishida T, Kanda T, Nishitani A, Takahashi
T, Nakajima K, Ishikawa T and Hirota S: Secondary mutations in the
kinase domain of the KIT gene are predominant in imatinib-resistant
gastrointestinal stromal tumor. Cancer Sci. 99:799–804. 2008.
View Article : Google Scholar : PubMed/NCBI
|
|
33
|
Demetri GD, van Oosterom AT, Garrett CR,
Blackstein ME, Shah MH, Verweij J, McArthur G, Judson IR, Heinrich
MC, Morgan JA, et al: Efficacy and safety of sunitinib in patients
with advanced gastrointestinal stromal tumour after failure of
imatinib: A randomised controlled trial. Lancet. 368:1329–1338.
2006. View Article : Google Scholar : PubMed/NCBI
|
|
34
|
George S, Wang Q, Heinrich MC, Corless CL,
Zhu M, Butrynski JE, Morgan JA, Wagner AJ, Choy E, Tap WD, et al:
Efficacy and safety of regorafenib in patients with metastatic
and/or unresectable GI stromal tumor after failure of imatinib and
sunitinib: A multicenter phase II trial. J Clin Oncol.
30:2401–2407. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
35
|
Guo T, Agaram NP, Wong GC, Hom G, D'Adamo
D, Maki RG, Schwartz GK, Veach D, Clarkson BD, Singer S, et al:
Sorafenib inhibits the imatinib-resistant KITT670I gatekeeper
mutation in gastrointestinal stromal tumor. Clin Cancer Res.
13:4874–4881. 2007. View Article : Google Scholar : PubMed/NCBI
|
|
36
|
Cullinane C, Natoli A, Hui Y, Conus N,
Jackson S, Brüggen J, Manley PW and McArthur GA: Preclinical
evaluation of nilotinib efficacy in an imatinib-resistant
KIT-driven tumor model. Mol Cancer Ther. 9:1461–1468. 2010.
View Article : Google Scholar : PubMed/NCBI
|
|
37
|
Steigen SE, Eide TJ, Wasag B, Lasota J and
Miettinen M: Mutations in gastrointestinal stromal tumors - a
population-based study from Northern Norway. APMIS. 115:289–298.
2007. View Article : Google Scholar : PubMed/NCBI
|
|
38
|
Mazzola P, Spitale A, Banfi S,
Mazzucchelli L, Frattini M and Bordoni A: Epidemiology and
molecular biology of gastrointestinal stromal tumors (GISTs): A
population-based study in the South of Switzerland, 1999–2005.
Histol Histopathol. 23:1379–1386. 2008.PubMed/NCBI
|
|
39
|
Nowak F, Soria JC and Calvo F: Tumour
molecular profiling for deciding therapy-the French initiative. Nat
Rev Clin Oncol. 9:479–486. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
40
|
Ye J, Coulouris G, Zaretskaya I,
Cutcutache I, Rozen S and Madden TL: Primer-BLAST: A tool to design
target-specific primers for polymerase chain reaction. BMC
Bioinformatics. 13:1342012. View Article : Google Scholar : PubMed/NCBI
|
|
41
|
Magnin S, Viel E, Baraquin A,
Valmary-Degano S, Kantelip B, Pretet JL, Mougin C, Bigand M,
Girardo B, Borg C, et al: A multiplex SNaPshot assay as a rapid
method for detecting KRAS and BRAF mutations in advanced colorectal
cancers. J Mol Diagn. 13:485–492. 2011. View Article : Google Scholar : PubMed/NCBI
|
|
42
|
Cassier PA, Ducimetière F, Lurkin A,
Ranchère-Vince D, Scoazec JY, Bringuier PP, Decouvelaere AV, Méeus
P, Cellier D, Blay JY, et al: A prospective epidemiological study
of new incident GISTs during two consecutive years in Rhône A lpes
region: Incidence and molecular distribution of GIST in a European
region. Br J Cancer. 103:165–170. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
43
|
Mendoza Y, Singh C, Mewa J Castillo,
Fonseca E, Smith R and Pascale JM: Beginning of personalized
medicine in Panama: Molecular and pathological characteristics of
gastrointestinal stromal tumors from archival paraffin-embedded
tissue. Oncol Lett. 2:941–947. 2011.PubMed/NCBI
|
|
44
|
Heinrich MC, Owzar K, Corless CL, Hollis
D, Borden EC, Fletcher CD, Ryan CW, von Mehren M, Blanke CD, Rankin
C, et al: 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. 2008. View Article : Google Scholar : PubMed/NCBI
|
|
45
|
Sciot R, Debiec-Rychter M, Daugaard S,
Fisher C, Collin F, van Glabbeke M, Verweij J, Blay JY; Hogendoorn
PCEORTC Soft Tissue and Bone Sarcoma Group, ; et al: Australasian
Trials Group: Distribution and prognostic value of histopathologic
data and immunohistochemical markers in gastrointestinal stromal
tumours (GISTs): An analysis of the EORTC phase III trial of
treatment of metastatic GISTs with imatinib mesylate. Eur J Cancer.
44:1855–1860. 2008. View Article : Google Scholar : PubMed/NCBI
|
|
46
|
Kang HJ, Ryu MH, Kim KM, Park YS, Choi J,
Ryoo BY, Kim WH, Im SA, Bang YJ, Park SH, et al: Imatinib efficacy
by tumor genotype in Korean patients with advanced gastrointestinal
stromal tumors (GIST): The Korean GIST Study Group (KGSG) study.
Acta Oncol. 51:528–536. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
47
|
Joensuu H, Rutkowski P, Nishida T, Steigen
SE, Brabec P, Plank L, Nilsson B, Braconi C, Bordoni A, Magnusson
MK, et al: KIT and PDGFRA mutations and the risk of GI stromal
tumor recurrence. J Clin Oncol. 33:634–642. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
48
|
Origone P, Gargiulo S, Mastracci L,
Ballestrero A, Battistuzzi L, Casella C, Comandini D, Cusano R, Dei
Tos AP, Fiocca R, et al: Liguria GIST Unit: Molecular
characterization of an Italian series of sporadic GISTs. Gastric
Cancer. 16:596–601. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
49
|
Ahmad F, Lad P, Bhatia S and Das BR:
Molecular spectrum of c-KIT and PDGFRA gene mutations in gastro
intestinal stromal tumor: Determination of frequency, distribution
pattern and identification of novel mutations in Indian patients.
Med Oncol. 32:4242015. View Article : Google Scholar : PubMed/NCBI
|
|
50
|
Wang M, Xu J, Zhao W, Tu L, Qiu W, Wang C,
Shen Y, Liu Q and Cao H: Prognostic value of mutational
characteristics in gastrointestinal stromal tumors: A single-center
experience in 275 cases. Med Oncol. 31:8192014. View Article : Google Scholar : PubMed/NCBI
|
|
51
|
Minárik G, Plank L, Lasabová Z, Szemes T,
Burjanivová T, Szépe P, Buzalková V, Porubský D and Sufliarsky J:
Spectrum of mutations in gastrointestinal stromal tumor patients -
a population-based study from Slovakia. APMIS. 121:539–548. 2013.
View Article : Google Scholar : PubMed/NCBI
|
|
52
|
Tryggvason G, Hilmarsdottir B, Gunnarsson
GH, Jónsson JJ, Jónasson JG and Magnússon MK: Tyrosine kinase
mutations in gastrointestinal stromal tumors in a nation-wide study
in Iceland. APMIS. 118:648–656. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
53
|
Blanke CD, Rankin C, Demetri GD, Ryan CW,
von Mehren M, Benjamin RS, Raymond AK, Bramwell VH, Baker LH, Maki
RG, et al: Phase III randomized, intergroup trial assessing
imatinib mesylate at two dose levels in patients with unresectable
or metastatic gastrointestinal stromal tumors expressing the kit
receptor tyrosine kinase: S0033. J Clin Oncol. 26:626–632. 2008.
View Article : Google Scholar : PubMed/NCBI
|
|
54
|
Blanke CD, Demetri GD, von Mehren M,
Heinrich MC, Eisenberg B, Fletcher JA, Corless CL, Fletcher CD,
Roberts PJ, Heinz D, et al: Long-term results from a randomized
phase II trial of standard- versus higher-dose imatinib mesylate
for patients with unresectable or metastatic gastrointestinal
stromal tumors expressing KIT. J Clin Oncol. 26:620–625. 2008.
View Article : Google Scholar : PubMed/NCBI
|
|
55
|
Joensuu H, Fletcher C, Dimitrijevic S,
Silberman S, Roberts P and Demetri G: Management of malignant
gastrointestinal stromal tumours. Lancet Oncol. 3:655–664. 2002.
View Article : Google Scholar : PubMed/NCBI
|
|
56
|
Gastrointestinal Stromal Tumor
Meta-Analysis Group (MetaGIST), . Comparison of two doses of
imatinib for the treatment of unresectable or metastatic
gastrointestinal stromal tumors: A meta-analysis of 1,640 patients.
J Clin Oncol. 28:1247–1253. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
57
|
Wardelmann E, Losen I, Hans V, Neidt I,
Speidel N, Bierhoff E, Heinicke T, Pietsch T, Büttner R and
Merkelbach-Bruse S: 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. 106:887–895. 2003. View Article : Google Scholar : PubMed/NCBI
|
|
58
|
Andersson J, Bümming P, Meis-Kindblom JM,
Sihto H, Nupponen N, Joensuu H, Odén A, Gustavsson B, Kindblom LG
and Nilsson B: Gastrointestinal stromal tumors with KIT exon 11
deletions are associated with poor prognosis. Gastroenterology.
130:1573–1581. 2006. View Article : Google Scholar : PubMed/NCBI
|
|
59
|
O'Brien KM, Orlow I, Antonescu CR, Ballman
K, McCall L, DeMatteo R and Engel LS: Gastrointestinal stromal
tumors, somatic mutations and candidate genetic risk variants. PLoS
One. 8:e621192013. View Article : Google Scholar : PubMed/NCBI
|
|
60
|
He HY, Fang WG, Zhong HH, Li Y, Zheng J,
Du J, Heng WJ and Wu BQ: Status and clinical implication of c-kit
and PDGFRA mutations in 165 cases of gastrointestinal stromal tumor
(GIST). Zhonghua Bing Li Xue Za Zhi. 35:262–266. 2006.(In Chinese).
PubMed/NCBI
|
|
61
|
Baker G, Babb C, Schnugh D, Nayler S, Louw
M, Goedhals J, Bringuier PP, Blay JY and Willem P: Molecular
characterisation of gastrointestinal stromal tumours in a South
African population. Oncol Lett. 5:155–160. 2013.PubMed/NCBI
|
|
62
|
Saito K, Sakurai S, Sano T, Sakamoto K,
Asao T, Hosoya Y, Nakajima T and Kuwano H: Aberrant methylation
status of known methylation-sensitive CpG islands in
gastrointestinal stromal tumors without any correlation to the
state of c-kit and PDGFRA gene mutations and their malignancy.
Cancer Sci. 99:253–259. 2008. View Article : Google Scholar : PubMed/NCBI
|
