Role of molecular analysis in the adjuvant treatment of gastrointestinal stromal tumours: It is time to define it
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摘要
Sendur et al pointed out the attention on the importance of mutational analysis for adjuvant treatment of gastrointestinal stromal tumor (GIST) in an article published in World Journal of Gastroenterology . In particular, they suggested that the optimal dose and duration of adjuvant therapy could be defined by the mutational status of the primary disease. This comment would underline the importance of centralised laboratories, given the increasingly important role of molecular analysis in the work-flow of all GIST, and the need of retrospective analyses for subgroups population stratified for the mutational status from the available studies in the adjuvant setting, in order to define the role of mutational analysis in choosing the optimal dose and duration of adjuvant therapy.
Sendur et al pointed out the attention on the importance of mutational analysis for adjuvant treatment of gastrointestinal stromal tumor (GIST) in an article published in World Journal of Gastroenterology . In particular, they suggested that the optimal dose and duration of adjuvant therapy could be defined by the mutational status of the primary disease. This comment would underline the importance of centralised laboratories, given the increasingly important role of molecular analysis in the work-flow of all GIST, and the need of retrospective analyses for subgroups population stratified for the mutational status from the available studies in the adjuvant setting, in order to define the role of mutational analysis in choosing the optimal dose and duration of adjuvant therapy.
Sendur et al pointed out the attention on the importance of mutational analysis for adjuvant treatment of gastrointestinal stromal tumor (GIST) in an article published in World Journal of Gastroenterology . In particular, they suggested that the optimal dose and duration of adjuvant therapy could be defined by the mutational status of the primary disease. This comment would underline the importance of centralised laboratories, given the increasingly important role of molecular analysis in the work-flow of all GIST, and the need of retrospective analyses for subgroups population stratified for the mutational status from the available studies in the adjuvant setting, in order to define the role of mutational analysis in choosing the optimal dose and duration of adjuvant therapy.
引文
1 Sendur MA, Ozdemir NY, Akinci MB, Uncu D, Zengin N, Aksoy S. Is exon mutation analysis needed for adjuvant treatment of gastrointestinal stromal tumor? World J Gastro- enterol 2013; 19: 144-146 [PMID: 23326179 DOI: 10.3748/wjg.v19.i1.144]
2 Heinrich MC, Corless CL, Demetri GD, Blanke CD, von Mehren M, Joensuu H, McGreevey LS, Chen CJ, Van den Abbeele AD, Druker BJ, Kiese B, Eisenberg B, Roberts PJ, Singer S, Fletcher CD, Silberman S, Dimitrijevic S, Fletcher JA. Kinase mutations and imatinib response in patients with metastatic gastrointestinal stromal tumor. J Clin Oncol 2003;21: 4342-4349 [PMID: 14645423]
3 Debiec-Rychter M, Dumez H, Judson I, Wasag B, Verweij J, Brown M, Dimitrijevic S, Sciot R, Stul M, Vranck H, Scurr M, Hagemeijer A, van Glabbeke M, van Oosterom AT. Use of c-KIT/PDGFRA mutational analysis to predict the clinical response to imatinib in patients with advanced gastroin- testinal stromal tumours entered on phase I and II studies of the EORTC Soft Tissue and Bone Sarcoma Group. Eur J Cancer 2004; 40: 689-695 [PMID: 15010069]
4 Heinrich MC, Corless CL, Duensing A, McGreevey L, Chen CJ, Joseph N, Singer S, Griffith DJ, Haley A, Town A, Deme- tri GD, Fletcher CD, Fletcher JA. PDGFRA activating muta- tions in gastrointestinal stromal tumors. Science 2003; 299: 708-710 [PMID: 12522257]
5 Corless CL, Schroeder A, Griffith D, Town A, McGreevey L, Harrell P, Shiraga S, Bainbridge T, Morich J, Heinrich MC. PDGFRA mutations in gastrointestinal stromal tumors: fre- quency, spectrum and in vitro sensitivity to imatinib. J Clin Oncol 2005; 23: 5357-5364 [PMID: 15928335]
6 Debiec-Rychter M, Sciot R, Le Cesne A, Schlemmer M, Ho- henberger P, van Oosterom AT, Blay JY, Leyvraz S, Stul M, Casali PG, Zalcberg J, Verweij J, Van Glabbeke M, Hage- meijer A, Judson I. KIT mutations and dose selection for imatinib in patients with advanced gastrointestinal stromal tumours. Eur J Cancer 2006; 42: 1093-1103 [PMID: 16624552]
7 Maleddu A, Pantaleo MA, Nannini M, Biasco G. The role of mutational analysis of KIT and PDGFRA in gastrointestinal stromal tumors in a clinical setting. J Transl Med 2011; 9: 75 [PMID: 21605429 DOI: 10.1186/1479-5876-9-75]
8 Heinrich MC, Owzar K, Corless CL, Hollis D, Borden EC, Fletcher CD, Ryan CW, von Mehren M, Blanke CD, Rankin C, Benjamin RS, Bramwell VH, Demetri GD, Bertagnolli MM, Fletcher JA. Correlation of kinase genotype and clinical outcome in the North American Intergroup Phase III Trial of imatinib mesylate for treatment of advanced gastrointes- tinal stromal tumor: CALGB 150105 Study by Cancer and Leukemia Group B and Southwest Oncology Group. J Clin Oncol 2008; 26: 5360-5367 [PMID: 18955451 DOI: 10.1200/ JCO.2008.17.4284]
9 Andersson J, Bümming P, Meis-Kindblom JM, Sihto H, Nupponen N, Joensuu H, Odén A, Gustavsson B, Kindblom LG, Nilsson B. Gastrointestinal stromal tumors with KIT exon 11 deletions are associated with poor prognosis. Gas- troenterology 2006; 130: 1573-1581 [PMID: 16697720]
10 Cho S, Kitadai Y, Yoshida S, Tanaka S, Yoshihara M, Yo- shida K, Chayama K. Deletion of the KIT gene is associated with liver metastasis and poor prognosis in patients with gastrointestinal stromal tumor in the stomach. Int J Oncol 2006; 28: 1361-1367 [PMID: 16685437]
11 Liu XH, Bai CG, Xie Q, Feng F, Xu ZY, Ma DL. Prognostic value of KIT mutation in gastrointestinal stromal tumors. World J Gastroenterol 2005; 11: 3948-3952 [PMID: 15991300]
12 Martín J, Poveda A, Llombart-Bosch A, Ramos R, López- Guerrero JA, García del Muro J, Maurel J, Calabuig S, Gutier- rez A, González de Sande JL, Martínez J, De Juan A, Laínez N, Losa F, Alija V, Escudero P, Casado A, García P, Blanco R, Buesa JM. Deletions affecting codons 557-558 of the c-KIT gene indicate a poor prognosis in patients with completely resected gastrointestinal stromal tumors: a study by the Spanish Group for Sarcoma Research (GEIS). J Clin Oncol 2005; 23: 6190-6198 [PMID: 16135486]
13 Wardelmann E, Losen I, Hans V, Neidt I, Speidel N, Bier-hoff E, Heinicke T, Pietsch T, Büttner R, Merkelbach-Bruse S. Deletion of Trp-557 and Lys-558 in the juxtamembrane domain of the c-kit protooncogene is associated with meta- static behavior of gastrointestinal stromal tumors. Int J Can- cer 2003; 106: 887-895 [PMID: 12918066]
14 Lasota J, Dansonka-Mieszkowska A, Sobin LH, Miettinen M. A great majority of GISTs with PDGFRA mutations rep- resent gastric tumors of low or no malignant potential. Lab Invest 2004; 84: 874-883 [PMID: 15146165]
15 Lasota J, Stachura J, Miettinen M. GISTs with PDGFRA exon 14 mutations represent subset of clinically favorable gastric tumors with epithelioid morphology. Lab Invest 2006;86: 94-100 [PMID: 16258521]
16 Joensuu H, Eriksson M, Sundby Hall K, Hartmann JT, Pink D, Schütte J, Ramadori G, Hohenberger P, Duyster J, Al- Batran SE, Schlemmer M, Bauer S, Wardelmann E, Sarlomo- Rikala M, Nilsson B, Sihto H, Monge OR, Bono P, Kallio R, Vehtari A, Leinonen M, Alveg rd T, Reichardt P. One vs three years of adjuvant imatinib for operable gastrointes- tinal stromal tumor: a randomized trial. JAMA 2012; 307: 1265-1272 [PMID: 22453568 DOI: 10.1001/jama.2012.347]
17 Reichardt P, Blay JY, Boukovinas I, Brodowicz T, Broto JM, Casali PG, Decatris M, Eriksson M, Gelderblom H, Kosmidis P, Le Cesne A, Pousa AL, Schlemmer M, Verweij J, Joensuu H. Adjuvant therapy in primary GIST: state-of-the-art. Ann Oncol 2012; 23: 2776-2781 [PMID: 22831984 DOI: 10.1093/an- nonc/mds198]
18 ESMO/European Sarcoma Network Working Group. Gas- trointestinal stromal tumors: ESMO Clinical Practice Guide- lines for diagnosis, treatment and follow-up. Ann Oncol 2012; 23 Suppl 7: vii49-vii55 [PMID: 22997454]
19 Gronchi A. Risk stratification models and mutational analy- sis: keys to optimising adjuvant therapy in patients with gastrointestinal stromal tumour. Eur J Cancer 2013; 49: 884-892 [PMID: 23206668]
20 Astolfi A, Nannini M, Pantaleo MA, Di Battista M, Heinrich MC, Santini D, Catena F, Corless CL, Maleddu A, Saponara M, Lolli C, Di Scioscio V, Formica S, Biasco G. A molecular portrait of gastrointestinal stromal tumors: an integrative analysis of gene expression profiling and high-resolution genomic copy number. Lab Invest 2010; 90: 1285-1294 [PMID: 20548289 DOI: 10.1038/labinvest.2010.110]
21 Pantaleo MA, Astolfi A, Nannini M, Ceccarelli C, Formica S, Santini D, Heinrich MC, Corless C, Dei Tos AP, Paterini P, Catena F, Maleddu A, Saponara M, Di Battista M, Biasco G. Differential expression of neural markers in KIT and PDG- FRA wild-type gastrointestinal stromal tumours. Histopa- thology 2011; 59: 1071-1080 [PMID: 22175887 DOI: 10.1111/ j.1365-2559.2011.04071.x]
22 Pantaleo MA, Astolfi A, Di Battista M, Heinrich MC, Pateri- ni P, Scotlandi K, Santini D, Catena F, Manara MC, Nannini M, Maleddu A, Saponara M, Lolli C, Formica S, Biasco G. Insulin-like growth factor 1 receptor expression in wild-type GISTs: a potential novel therapeutic target. Int J Cancer 2009;125: 2991-2994 [PMID: 19672856 DOI: 10.1002/ijc.24595]
23 Pantaleo MA, Astolfi A, Indio V, Moore R, Thiessen N, Hein- rich MC, Gnocchi C, Santini D, Catena F, Formica S, Martelli PL, Casadio R, Pession A, Biasco G. SDHA loss-of-function mutations in KIT-PDGFRA wild-type gastrointestinal stro- mal tumors identified by massively parallel sequencing. J Natl Cancer Inst 2011; 103: 983-987 [PMID: 21505157 DOI:10.1093/jnci/djr130]
24 Pantaleo MA, Nannini M, Astolfi A, Biasco G. A distinct pediatric-type gastrointestinal stromal tumor in adults: potential role of succinate dehydrogenase subunit A muta- tions. Am J Surg Pathol 2011; 35: 1750-1752 [PMID: 21997697 DOI: 10.1097/PAS.0b013e318230a523]
25 Miettinen M, Wang ZF, Sarlomo-Rikala M, Osuch C, Rut- kowski P, Lasota J. Succinate dehydrogenase-deficient GISTs:a clinicopathologic, immunohistochemical, and molecular genetic study of 66 gastric GISTs with predilection to young age. Am J Surg Pathol 2011; 35: 1712-1721 [PMID: 21997692 DOI: 10.1097/PAS.0b013e3182260752]
26 Gill AJ, Chou A, Vilain R, Clarkson A, Lui M, Jin R, Tobias V, Samra J, Goldstein D, Smith C, Sioson L, Parker N, Smith RC, Sywak M, Sidhu SB, Wyatt JM, Robinson BG, Eckstein RP, Benn DE, Clifton-Bligh RJ. Immunohistochemistry for SDHB divides gastrointestinal stromal tumors (GISTs) into2 distinct types. Am J Surg Pathol 2010; 34: 636-644 [PMID: 20305538 DOI: 10.1097/PAS.0b013e3181d6150d27]
27 Rege TA, Wagner AJ, Corless CL, Heinrich MC, Hornick JL. "Pediatric-type" gastrointestinal stromal tumors in adults: distinctive histology predicts genotype and clinical behav- ior. Am J Surg Pathol 2011; 35: 495-504 [PMID: 21358303 DOI:10.1097/PAS.0b013e31820e5f7d]
2 Heinrich MC, Corless CL, Demetri GD, Blanke CD, von Mehren M, Joensuu H, McGreevey LS, Chen CJ, Van den Abbeele AD, Druker BJ, Kiese B, Eisenberg B, Roberts PJ, Singer S, Fletcher CD, Silberman S, Dimitrijevic S, Fletcher JA. Kinase mutations and imatinib response in patients with metastatic gastrointestinal stromal tumor. J Clin Oncol 2003;21: 4342-4349 [PMID: 14645423]
3 Debiec-Rychter M, Dumez H, Judson I, Wasag B, Verweij J, Brown M, Dimitrijevic S, Sciot R, Stul M, Vranck H, Scurr M, Hagemeijer A, van Glabbeke M, van Oosterom AT. Use of c-KIT/PDGFRA mutational analysis to predict the clinical response to imatinib in patients with advanced gastroin- testinal stromal tumours entered on phase I and II studies of the EORTC Soft Tissue and Bone Sarcoma Group. Eur J Cancer 2004; 40: 689-695 [PMID: 15010069]
4 Heinrich MC, Corless CL, Duensing A, McGreevey L, Chen CJ, Joseph N, Singer S, Griffith DJ, Haley A, Town A, Deme- tri GD, Fletcher CD, Fletcher JA. PDGFRA activating muta- tions in gastrointestinal stromal tumors. Science 2003; 299: 708-710 [PMID: 12522257]
5 Corless CL, Schroeder A, Griffith D, Town A, McGreevey L, Harrell P, Shiraga S, Bainbridge T, Morich J, Heinrich MC. PDGFRA mutations in gastrointestinal stromal tumors: fre- quency, spectrum and in vitro sensitivity to imatinib. J Clin Oncol 2005; 23: 5357-5364 [PMID: 15928335]
6 Debiec-Rychter M, Sciot R, Le Cesne A, Schlemmer M, Ho- henberger P, van Oosterom AT, Blay JY, Leyvraz S, Stul M, Casali PG, Zalcberg J, Verweij J, Van Glabbeke M, Hage- meijer A, Judson I. KIT mutations and dose selection for imatinib in patients with advanced gastrointestinal stromal tumours. Eur J Cancer 2006; 42: 1093-1103 [PMID: 16624552]
7 Maleddu A, Pantaleo MA, Nannini M, Biasco G. The role of mutational analysis of KIT and PDGFRA in gastrointestinal stromal tumors in a clinical setting. J Transl Med 2011; 9: 75 [PMID: 21605429 DOI: 10.1186/1479-5876-9-75]
8 Heinrich MC, Owzar K, Corless CL, Hollis D, Borden EC, Fletcher CD, Ryan CW, von Mehren M, Blanke CD, Rankin C, Benjamin RS, Bramwell VH, Demetri GD, Bertagnolli MM, Fletcher JA. Correlation of kinase genotype and clinical outcome in the North American Intergroup Phase III Trial of imatinib mesylate for treatment of advanced gastrointes- tinal stromal tumor: CALGB 150105 Study by Cancer and Leukemia Group B and Southwest Oncology Group. J Clin Oncol 2008; 26: 5360-5367 [PMID: 18955451 DOI: 10.1200/ JCO.2008.17.4284]
9 Andersson J, Bümming P, Meis-Kindblom JM, Sihto H, Nupponen N, Joensuu H, Odén A, Gustavsson B, Kindblom LG, Nilsson B. Gastrointestinal stromal tumors with KIT exon 11 deletions are associated with poor prognosis. Gas- troenterology 2006; 130: 1573-1581 [PMID: 16697720]
10 Cho S, Kitadai Y, Yoshida S, Tanaka S, Yoshihara M, Yo- shida K, Chayama K. Deletion of the KIT gene is associated with liver metastasis and poor prognosis in patients with gastrointestinal stromal tumor in the stomach. Int J Oncol 2006; 28: 1361-1367 [PMID: 16685437]
11 Liu XH, Bai CG, Xie Q, Feng F, Xu ZY, Ma DL. Prognostic value of KIT mutation in gastrointestinal stromal tumors. World J Gastroenterol 2005; 11: 3948-3952 [PMID: 15991300]
12 Martín J, Poveda A, Llombart-Bosch A, Ramos R, López- Guerrero JA, García del Muro J, Maurel J, Calabuig S, Gutier- rez A, González de Sande JL, Martínez J, De Juan A, Laínez N, Losa F, Alija V, Escudero P, Casado A, García P, Blanco R, Buesa JM. Deletions affecting codons 557-558 of the c-KIT gene indicate a poor prognosis in patients with completely resected gastrointestinal stromal tumors: a study by the Spanish Group for Sarcoma Research (GEIS). J Clin Oncol 2005; 23: 6190-6198 [PMID: 16135486]
13 Wardelmann E, Losen I, Hans V, Neidt I, Speidel N, Bier-hoff E, Heinicke T, Pietsch T, Büttner R, Merkelbach-Bruse S. Deletion of Trp-557 and Lys-558 in the juxtamembrane domain of the c-kit protooncogene is associated with meta- static behavior of gastrointestinal stromal tumors. Int J Can- cer 2003; 106: 887-895 [PMID: 12918066]
14 Lasota J, Dansonka-Mieszkowska A, Sobin LH, Miettinen M. A great majority of GISTs with PDGFRA mutations rep- resent gastric tumors of low or no malignant potential. Lab Invest 2004; 84: 874-883 [PMID: 15146165]
15 Lasota J, Stachura J, Miettinen M. GISTs with PDGFRA exon 14 mutations represent subset of clinically favorable gastric tumors with epithelioid morphology. Lab Invest 2006;86: 94-100 [PMID: 16258521]
16 Joensuu H, Eriksson M, Sundby Hall K, Hartmann JT, Pink D, Schütte J, Ramadori G, Hohenberger P, Duyster J, Al- Batran SE, Schlemmer M, Bauer S, Wardelmann E, Sarlomo- Rikala M, Nilsson B, Sihto H, Monge OR, Bono P, Kallio R, Vehtari A, Leinonen M, Alveg rd T, Reichardt P. One vs three years of adjuvant imatinib for operable gastrointes- tinal stromal tumor: a randomized trial. JAMA 2012; 307: 1265-1272 [PMID: 22453568 DOI: 10.1001/jama.2012.347]
17 Reichardt P, Blay JY, Boukovinas I, Brodowicz T, Broto JM, Casali PG, Decatris M, Eriksson M, Gelderblom H, Kosmidis P, Le Cesne A, Pousa AL, Schlemmer M, Verweij J, Joensuu H. Adjuvant therapy in primary GIST: state-of-the-art. Ann Oncol 2012; 23: 2776-2781 [PMID: 22831984 DOI: 10.1093/an- nonc/mds198]
18 ESMO/European Sarcoma Network Working Group. Gas- trointestinal stromal tumors: ESMO Clinical Practice Guide- lines for diagnosis, treatment and follow-up. Ann Oncol 2012; 23 Suppl 7: vii49-vii55 [PMID: 22997454]
19 Gronchi A. Risk stratification models and mutational analy- sis: keys to optimising adjuvant therapy in patients with gastrointestinal stromal tumour. Eur J Cancer 2013; 49: 884-892 [PMID: 23206668]
20 Astolfi A, Nannini M, Pantaleo MA, Di Battista M, Heinrich MC, Santini D, Catena F, Corless CL, Maleddu A, Saponara M, Lolli C, Di Scioscio V, Formica S, Biasco G. A molecular portrait of gastrointestinal stromal tumors: an integrative analysis of gene expression profiling and high-resolution genomic copy number. Lab Invest 2010; 90: 1285-1294 [PMID: 20548289 DOI: 10.1038/labinvest.2010.110]
21 Pantaleo MA, Astolfi A, Nannini M, Ceccarelli C, Formica S, Santini D, Heinrich MC, Corless C, Dei Tos AP, Paterini P, Catena F, Maleddu A, Saponara M, Di Battista M, Biasco G. Differential expression of neural markers in KIT and PDG- FRA wild-type gastrointestinal stromal tumours. Histopa- thology 2011; 59: 1071-1080 [PMID: 22175887 DOI: 10.1111/ j.1365-2559.2011.04071.x]
22 Pantaleo MA, Astolfi A, Di Battista M, Heinrich MC, Pateri- ni P, Scotlandi K, Santini D, Catena F, Manara MC, Nannini M, Maleddu A, Saponara M, Lolli C, Formica S, Biasco G. Insulin-like growth factor 1 receptor expression in wild-type GISTs: a potential novel therapeutic target. Int J Cancer 2009;125: 2991-2994 [PMID: 19672856 DOI: 10.1002/ijc.24595]
23 Pantaleo MA, Astolfi A, Indio V, Moore R, Thiessen N, Hein- rich MC, Gnocchi C, Santini D, Catena F, Formica S, Martelli PL, Casadio R, Pession A, Biasco G. SDHA loss-of-function mutations in KIT-PDGFRA wild-type gastrointestinal stro- mal tumors identified by massively parallel sequencing. J Natl Cancer Inst 2011; 103: 983-987 [PMID: 21505157 DOI:10.1093/jnci/djr130]
24 Pantaleo MA, Nannini M, Astolfi A, Biasco G. A distinct pediatric-type gastrointestinal stromal tumor in adults: potential role of succinate dehydrogenase subunit A muta- tions. Am J Surg Pathol 2011; 35: 1750-1752 [PMID: 21997697 DOI: 10.1097/PAS.0b013e318230a523]
25 Miettinen M, Wang ZF, Sarlomo-Rikala M, Osuch C, Rut- kowski P, Lasota J. Succinate dehydrogenase-deficient GISTs:a clinicopathologic, immunohistochemical, and molecular genetic study of 66 gastric GISTs with predilection to young age. Am J Surg Pathol 2011; 35: 1712-1721 [PMID: 21997692 DOI: 10.1097/PAS.0b013e3182260752]
26 Gill AJ, Chou A, Vilain R, Clarkson A, Lui M, Jin R, Tobias V, Samra J, Goldstein D, Smith C, Sioson L, Parker N, Smith RC, Sywak M, Sidhu SB, Wyatt JM, Robinson BG, Eckstein RP, Benn DE, Clifton-Bligh RJ. Immunohistochemistry for SDHB divides gastrointestinal stromal tumors (GISTs) into2 distinct types. Am J Surg Pathol 2010; 34: 636-644 [PMID: 20305538 DOI: 10.1097/PAS.0b013e3181d6150d27]
27 Rege TA, Wagner AJ, Corless CL, Heinrich MC, Hornick JL. "Pediatric-type" gastrointestinal stromal tumors in adults: distinctive histology predicts genotype and clinical behav- ior. Am J Surg Pathol 2011; 35: 495-504 [PMID: 21358303 DOI:10.1097/PAS.0b013e31820e5f7d]