Department of Sarcoma Medical Oncology, The University of Texas M. D. Anderson Cancer Center, Houston.
Department of Medical Oncology, Fox Chase Cancer Center, Philadelphia.
Ann Oncol. 2012 May;23(5):1335-1340. doi: 10.1093/annonc/mdr442. Epub 2011 Oct 12.
Gastrointestinal stromal tumors (GISTs) and desmoid tumors (DTs) are two rare mesenchymal tumor. Anecdotal reports of individuals with both diseases led us to make the hypothesis that the association is a nonrandom event as the probability would be extremely low to observe such cases if they were independent events.
We evaluated the existence of patients with GIST and DT in a large multicenter cohort at 10 institutions in the United States, Australia and Europe. Data on gender, age at diagnosis, KIT, PDGFRA, CTNNB1 mutation status and follow-up time after diagnosis were collected.
We identified 28 patients diagnosed with both tumors. DT was diagnosed after GIST in 75% of patients and concomitantly in 21%. In only one case (4%), GIST was diagnosed after DT. KIT or PDGFRA mutations were detected in 12 of 14 GIST, 9 in KIT exon 11, 2 in KIT exon 9 and 1 in PDGFRA.
A statistical analysis of these 28 cases suggests a nonrandom association between GIST and DT. Further studies may be able to elucidate the underlying biology responsible for this association.
胃肠道间质瘤（GIST）和硬纤维瘤（DT）是两种罕见的间叶肿瘤。一些同时患有这两种疾病的个体的病例报告使我们提出了这样一种假设，即这种关联不是随机事件，因为如果它们是独立事件，观察到这种情况的概率将极低。
我们在美国、澳大利亚和欧洲的 10 家机构的一个大型多中心队列中评估了同时患有 GIST 和 DT 的患者的存在。收集了性别、诊断时的年龄、KIT、PDGFRA、CTNNB1 突变状态和诊断后随访时间的数据。
我们确定了 28 例同时患有这两种肿瘤的患者。在 75%的患者中，DT 在 GIST 之后被诊断出，而在 21%的患者中，两者同时被诊断出。在仅有的 1 例（4%）中，GIST 在 DT 之后被诊断出。在 14 例 GIST 中，有 12 例检测到 KIT 或 PDGFRA 突变，9 例在 KIT 外显子 11 中，2 例在 KIT 外显子 9 中，1 例在 PDGFRA 中。
对这 28 例病例的统计分析表明，GIST 和 DT 之间存在非随机关联。进一步的研究可能能够阐明导致这种关联的潜在生物学机制。
