IJzerman Nikki S, Drabbe Cas, den Hollander Dide, Mohammadi Mahmoud, van Boven Hester, Desar Ingrid M E, Gelderblom Hans, Grünhagen Dirk J, Reyners An K L, van Noesel Max M, Mathijssen Ron H J, Steeghs Neeltje, van der Graaf Winette T A
Department of Medical Oncology, Netherlands Cancer Institute, Plesmanlaan 121, 1066 CX Amsterdam, The Netherlands.
Department of Medical Oncology, Erasmus MC Cancer Institute, Erasmus University Medical Center, Doctor Molewaterplein 40, 3015 GD Rotterdam, The Netherlands.
Cancers (Basel). 2020 Mar 20;12(3):730. doi: 10.3390/cancers12030730.
Gastrointestinal stromal tumour (GIST) is a disease of older adults and is dominated by / mutations. In children, GIST is rare, predominantly occurs in girls, has a stomach location and generally lacks / mutations. For young adults (YA), aged 18 to 40 years, the typical phenotypic and genotypic patterns are unknown. We therefore aimed to describe the clinical, pathological and molecular characteristics of GIST in in YA. YA GIST patients registered in the Dutch GIST Registry (DGR) were included, and data were compared to those of older adults (OA). From 1010 patients in the DGR, 52 patients were YA (54% male). Main tumour locations were stomach (46%) and small intestine (46%). GIST genetic profiles were mutations in (69%), (6%), SDH deficient (8%), NF1 associated (4%), gene fusion (2%) or wildtype (10%). Statistically significant differences were found between the OA and YA patients (localisation, syndromic and mutational status). YA presented more often than OA in an emergency setting (18% vs. 9%). The overall five-year survival rate was 85%. In conclusion, YA GISTs are not similar to typical adult GISTs and also differ from paediatric GISTs, as described in the literature. In this series, we found a relatively high percentage of small intestine GIST, emergency presentation, 25% non- mutations and a relatively good survival.
胃肠道间质瘤（GIST）是一种好发于老年人的疾病，主要由/突变主导。在儿童中，GIST较为罕见，主要发生在女孩身上，多位于胃部，且一般缺乏/突变。对于18至40岁的年轻人（YA），其典型的表型和基因型模式尚不清楚。因此，我们旨在描述YA中GIST的临床、病理和分子特征。纳入了在荷兰胃肠道间质瘤登记处（DGR）登记的YA GIST患者，并将数据与老年人（OA）的数据进行比较。在DGR的1010名患者中，52名是YA（54%为男性）。主要肿瘤部位是胃（46%）和小肠（46%）。GIST的基因谱为（69%）突变、（6%）、SDH缺陷（8%）、NF1相关（4%）、基因融合（2%）或野生型（10%）。在OA和YA患者之间发现了统计学上的显著差异（定位、综合征和突变状态）。YA在急诊情况下的出现频率高于OA（18%对9%）。总体五年生存率为85%。总之，如文献所述，YA GIST与典型的成人GIST不同，也与儿童GIST不同。在本系列研究中，我们发现小肠GIST的比例相对较高、急诊表现、25%无/突变以及相对较好的生存率。
