A systematic review on the clinical diagnosis of gastrointestinal stromal tumors

Scarpa, Marco; Bertin, M.; Ruffolo, Cesare; Polese, Lino; D’Amico, Davide; Angriman, Imerio

doi:10.1002/jso.21120

Cited by 131 publications

(109 citation statements)

References 60 publications

(55 reference statements)

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“…GISTs have a wide spectrum of clinical presentation, ranging from small, incidentally detected tumours [4] to those presenting with acute GI bleeding or as huge intra-abdominal masses [5]. Because of their uncertain biological behaviour, different schemes have been suggested for assessment of the malignant potential in GISTs.…”

Section: Introductionmentioning

confidence: 99%

An unusual and potentially misleading phenotypic change in a primary gastrointestinal stromal tumour (GIST) under imatinib mesylate therapy

et al. 2010

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We present a unique case of a 62-year-old female who was diagnosed with a huge gastric gastrointestinal stromal tumour (GIST). Core needle biopsy revealed a cellular spindle cell GIST with diffuse expression of CD117 and CD34. Four mitotic figures were counted in ten available HPFs, indicating a high-risk tumour. Computed tomography scan, performed after 8 months of neoadjuvant imatinib mesylate treatment (Glivec, 400 mg/day), revealed a partial response with reduction of tumour size from 20 × 15 × 15 cm to 13.3 × 8 × 7.6 cm. The patient underwent complete tumour resection. The tumour revealed extensive cystic changes and hyalinisation in 90% of the tumour mass. Multiple viable tumour clones, measuring up to 1 cm, showed highly anaplastic, large epithelioid cells with vesicular nuclei and prominent, centrally located nucleoli, strikingly mimicking the appearance of proximal-type epithelioid sarcoma, anaplastic carcinoma, melanoma or epithelioid angiosarcoma. These anaplastic tumour cells expressed pankeratin (KL-1) and vimentin, but they were completely negative for CD117, DOG-1, CD34, S100, desmin, α-smooth muscle actin, HMB45, CD30, CD45, CK7, CK20 and 34βE-12. Sufficient tissue for molecular analysis was available from the resected tumour. No mutations were detected in KIT exons 9, 11, 13, 17, PDGFRA exons 12, 14, 18, KRAS and BRAF. The patient was alive with no evidence of recurrence 28 months later. To our knowledge, this represents the first report on this unusual type of trans-differentiation in GIST under imatinib therapy. Awareness of this phenomenon would help to avoid diagnostic confusion when evaluating post-treatment resections from GISTs.

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Section: Introductionmentioning

confidence: 99%

An unusual and potentially misleading phenotypic change in a primary gastrointestinal stromal tumour (GIST) under imatinib mesylate therapy

et al. 2010

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“…There is a proportion (5%) of true GISTs which are CD117 negative and antigen retrieval may result in false CD117 staining. In these cases the mutational analysis plays an important role in discovering mutations involving c-kit and PDGFRA genes, because it can confirm the diagnosis of GIST, if doubtful (12,13). In addition, mutational analysis has predictive value for sensitivity to imatinib therapy and prognostic implications (8).…”

Section: Discussionmentioning

confidence: 99%

Results on prognostic value of mutations in localized gastrointestinal stromal tumors (GIST): in one single center

Garcés-Albir

Martí-Obiol

López-Mozos

et al. 2012

Rev. esp. enferm. dig.

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Introduction: to study the prognostic value of mutations in KIT or PDGFRA in gastrointestinal stromal tumors (GIST) managed in our department.Materials and methods: forty five patients with localized GIST underwent surgery between 1998 and 2010. Thirty six patients were enrolled in a retrospective study. DNA was isolated from 3 to 5 µm sections of fixed and paraffin-embedded tissue. Exon 9, 11, 13 and 17 of c-kit gene and exon 12 and 18 of PDGFRA were amplified by PCR and sequenced.Results: tumors with mutations were larger at the surgery and showed higher mitotic count (p < 0.05). The mutations were found in 22 patients (61.2%), 18 had mutations in exon 11 of c-kit gene. PDGFRA mutations were located in exon 12. The 5-years relapsefree survival rate for patients with tumors having mutations was 38% and 100% for patients without mutations (p < 0.01). The 5-year survival rate was significantly worse for patients with mutations (20 vs. 97%, p < 0.01), with tumors larger than 5 cm (28 vs. 97%, p < 0.01) and with > 50 mitosis/HPF (42 vs. 88%, p < 0.03). Multivariate analyses indicated that the mutations, mitotic counts, and tumor size were independent prognostic factors for survival in patients with localized GIST.Conclusions: in this series, having a detected mutation is a poor prognostic factor with significantly increased recurrence rate and shortens survival. Key words:Gastrointestinal stromal tumors (GIST). c-kit. PDGFRA. Mutation. ABBREVIATIONSPDGFRA: platelet-derived growth factor receptor alpha. GIST: gastrointestinal stromal tumor. PCR: polymerase chain reaction. HPF: high power fields. PET: positron emission tomography. INTRODUCTIONGastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract. They are defined here as c-kit or KIT (CD117, stem cell factor receptor)-positive mesenchymal spindle cell or epithelioid neoplasm primary in the GI tract, omentum, mesentery or retroperitoneum (1).Although around 87% of GIST expressed KIT, only 57-92% (according to the series and the diagnostic techniques) of GISTs showed mutations juxtamembrane to the c-kit gene domain (2-5).The c-kit mutations are mainly located in the exons 9, 11, 13 and 17. The frequencies of the mutations are 75-80% for the exon 11 and 20% for the exon 9. Also we found mutations in another receptor, PDGFRA, principally in the exons 12 and 18 (6). An important characteristic in the molecular pathology of these tumors are that the c-kit and PDGFRA mutations are reciprocally excluded (7,8).There is a group of GIST (approximately 2-10% of cases) that expresses very weakly or do not express c-kit, but in 10-50% of the cases they present c-kit or PDGFRA mutations and this helps to confirm the diagnosis of GIST (7). Vol. 104. N.° 8, pp. 405-410, 2012 Some of these results were presented in a session of the XXVIII Annual National Congress of the Spanish Society of Surgeons, held in Madrid (November, 2010 Results on prognostic value of mutations in localized gastrointestinal stromal tumors (GIST) in on...

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“…CTand MRI are other valuable screening tools with diagnostic yields of 73.6% and 91.7%, respectively [55]. CT and MRI have the advantage of evaluating the entire gastrointestinal tract for multifocal tumors as well as liver and peritoneal surfaces for metastases.…”

Section: Screening High Risk Populationsmentioning

confidence: 99%

Surveillance strategies for gastrointestinal stromal tumors

Grotz

Donohue

2011

Journal of Surgical Oncology

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Although only 10-30% of gastrointestinal stromal tumors (GISTs) are clinically malignant, all have some degree of malignant potential. The management of high risk patients should be evidence based. However, prospective data and a consensus for guidelines concerning the screening of asymptomatic high risk patients and surveillance following multidisciplinary treatment do not exist. This review provides an overview of GIST, with an emphasis on the available data regarding screening and surveillance of certain populations with GISTs.

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A systematic review on the clinical diagnosis of gastrointestinal stromal tumors

Cited by 131 publications

References 60 publications

An unusual and potentially misleading phenotypic change in a primary gastrointestinal stromal tumour (GIST) under imatinib mesylate therapy

An unusual and potentially misleading phenotypic change in a primary gastrointestinal stromal tumour (GIST) under imatinib mesylate therapy

Results on prognostic value of mutations in localized gastrointestinal stromal tumors (GIST): in one single center

Surveillance strategies for gastrointestinal stromal tumors

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