Argumánez Víctor, Lorenzo-Zúñiga Vicente, Bustamante-Balén Marco, García García Sonia, Terol Cháfer Isabel, Oltra Silvestre, Pons-Beltrán Vicente
Unidad de Endoscopia, Hospital Universitari i Politècnic La Fe/IIS La Fe, Valencia, España.
Unidad de Endoscopia, Hospital Universitari i Politècnic La Fe/IIS La Fe, Valencia, España.
Gastroenterol Hepatol. 2025 Apr;48(4):502266. doi: 10.1016/j.gastrohep.2024.502266. Epub 2024 Oct 11.
Familial adenomatous polyposis (FAP) is a hereditary disease caused by mutations in the APC gene, which is also associated with extracolonic manifestations. The objective was to characterize the extracolonic manifestations in a cohort of patients with classic FAP and the possible genotype-phenotype association.
The study design was observational and descriptive. Demographic, clinical, and genetic variables were collected based on the type of mutation (frameshift, nonsense, splicing, rearrangement, and others).
We included 45 patients with FAP (mean age 47years, range 21-78; 51% female), belonging to 21 families, with a median of 2 (range 0-6) manifestations per patient. Eighty percent (n=36) had upper digestive tract involvement, with duodenal adenomas (73%), fundic gland polyposis (56%), and ampullary adenoma (36%) being the most frequent findings. The most common extraintestinal manifestations were desmoid tumors (16%) and papillary thyroid carcinoma (13%). Thirty eight percent of the patients presented an aggressive phenotype (SpigelmanIII-IV, high-grade dysplasia, invasive neoplasia, desmoid tumor, and papillary thyroid carcinoma). The most common genetic mutations were frameshift (56%), nonsense (26%), and splicing (16%), primarily located in exon15 (50%). No significant correlation was found between the type of genetic mutation and the severity or location of phenotypic manifestations.
One-third of patients with FAP present an aggressive phenotype, without a demonstrated correlation between the type of genetic alteration and the phenotypic manifestations.
家族性腺瘤性息肉病（FAP）是一种由APC基因突变引起的遗传性疾病，也与肠外表现有关。目的是描述一组经典FAP患者的肠外表现以及可能的基因型-表型关联。
本研究设计为观察性和描述性。根据突变类型（移码突变、无义突变、剪接突变、重排突变等）收集人口统计学、临床和遗传变量。
我们纳入了45例FAP患者（平均年龄47岁，范围21-78岁；51%为女性），来自21个家庭，每位患者的表现中位数为2种（范围0-6种）。80%（n=36）有上消化道受累，十二指肠腺瘤（73%）、胃底腺息肉（56%）和壶腹腺瘤（36%）是最常见的发现。最常见的肠外表现是硬纤维瘤（16%）和甲状腺乳头状癌（13%）。38%的患者表现出侵袭性表型（Spigelman III-IV级、高级别异型增生、浸润性肿瘤、硬纤维瘤和甲状腺乳头状癌）。最常见的基因突变是移码突变（56%）、无义突变（26%）和剪接突变（16%），主要位于外显子15（50%）。未发现基因突变类型与表型表现的严重程度或位置之间存在显著相关性。
三分之一的FAP患者表现出侵袭性表型，基因改变类型与表型表现之间未显示出相关性。
