Comandini Danila, Damiani Azzurra, Pastorino Alessandro
Unit of Medical Oncology, IRCCS AOU San Martino IST, Genoa, Italy.
Drugs Context. 2017 Aug 4;6:212307. doi: 10.7573/dic.212307. eCollection 2017.
Gastrointestinal stromal tumors (GISTs) are rare neoplasms, but they also represent the most common mesenchymal tumors of the gastrointestinal tract originating from the cell of Cajal. GIST incidence ranges around 1% of all gastrointestinal malignancies. Approximately 5% of all GISTs have a hereditary etiology. The remaining 95% of GISTs are considered sporadic events, with up to 75% of cases driven by a constitutional activation of the c-KIT proto-oncogene. GISTs are generally solitary lesions. Nonetheless, multiple sporadic GISTs can occur and present as synchronous or metachronous tumors, usually associated with familial GIST. Here, we report a case of primary prostate and lung tumors associated with gastric and small bowel GISTs, unrelated to any known hereditary syndrome. Also, in the case we describe, the prostatic tumor came before the GISTs, while the lung tumor occurred later in time and led to pulmonary lobectomy plus lymphoadenectomy, with a diagnosis of nonsmall cell lung cancer. With the exception of a slight difference in lymphoid infiltration, the abdominal and gastric GIST nodules shared the same proliferative MIB1 index and mitotic count. However, the genetic analysis revealed that the gastric GIST and abdominal tumors were characterized by two different c-KIT mutations. This molecular heterogeneity supported the hypothesis of two different synchronous GISTs arising from stomach and ileum. At present, the patient is disease free and has already completed the third year of adjuvant therapy with imatinib. This case supports the importance of the analysis of c-KIT mutational status to distinguish metastases from synchronous multicentric GISTs, with relevant implications in therapeutic decisions, as well as the importance of a dedicated multidisciplinary team and of a radiological follow-up after the diagnosis of a primary GIST, to discover a relapse of the GIST or, possibly, additional malignancies.
胃肠道间质瘤(GISTs)是罕见的肿瘤,但它们也是起源于 Cajal 细胞的胃肠道最常见的间充质肿瘤。GIST 的发病率约占所有胃肠道恶性肿瘤的 1%。所有 GIST 中约 5%有遗传病因。其余 95%的 GIST 被认为是散发性事件,高达 75%的病例由 c-KIT 原癌基因的体细胞激活驱动。GIST 通常为孤立性病变。尽管如此,多个散发性 GIST 也可发生,并表现为同时性或异时性肿瘤,通常与家族性 GIST 相关。在此,我们报告一例原发性前列腺和肺肿瘤与胃和小肠 GIST 相关的病例,与任何已知的遗传综合征无关。此外,在我们描述的病例中,前列腺肿瘤先于 GIST 出现,而肺肿瘤后来发生并导致肺叶切除加淋巴结清扫,诊断为非小细胞肺癌。除了淋巴样浸润略有差异外,腹部和胃 GIST 结节的增殖 MIB1 指数和有丝分裂计数相同。然而,基因分析显示胃 GIST 和腹部肿瘤具有两种不同的 c-KIT 突变。这种分子异质性支持了胃和回肠出现两种不同同时性 GIST 的假说。目前,患者无疾病复发,已完成伊马替尼辅助治疗的第三年。该病例支持分析 c-KIT 突变状态以区分转移瘤与同时性多中心 GIST 的重要性,这对治疗决策具有重要意义,以及支持在诊断原发性 GIST 后由专门的多学科团队进行放射学随访以发现 GIST 复发或可能的其他恶性肿瘤的重要性。
Drugs Context. 2017-8-4
Semin Diagn Pathol. 2006-5
Histol Histopathol. 2012-2
World J Gastroenterol. 2019-8-14
Nat Rev Clin Oncol. 2012-4-24
Am J Surg Pathol. 2007-2