Comparison of two cases of Familial Adenomatous Polyposis with the same APC genotype and different phenotypes

IF 1.4 4区 医学 Q4 GENETICS & HEREDITY Cancer Genetics Pub Date : 2024-11-01 DOI:10.1016/j.cancergen.2024.10.008
Eva Spier , Aashna Pandya , Miranda Di Biase
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Abstract

Familial adenomatous polyposis (FAP) is a colorectal cancer (CRC) predisposition syndrome characterized by the presence of numerous colorectal adenomatous polyps, resulting from a single germline, heterozygous, likely pathogenic/pathogenic (LP/P) variant in the APC gene, an important tumor suppressor encoding gene. Classic FAP is considered in individuals with a germline LP/P variant in APC and have ≥100 colorectal adenomatous polyps beginning on average in adolescence, while attenuated FAP typically presents with fewer colorectal adenomatous polyps (10-<100 polyps) in adulthood. Both forms can feature extracolonic manifestations, such as desmoid tumors, thyroid cancer, and osteomas. Reported genotype-phenotype correlations in FAP provide valuable insights for healthcare providers, but variable expressivity persists even among individuals sharing a genotype.
In this case study, we report two patients with the same pathogenic APC variant [c.4348C>T, p.Arg1450Ter] and different presentations and clinical findings. Case 1 describes a 21-year-old male with an extensive family history of cancer who was diagnosed with FAP at age 4. Case 2 describes a 22-year-old female with no family history who was diagnosed with FAP after she initially presented with a desmoid tumor. Despite genetic similarities, their clinical courses significantly differed, emphasizing the variable expressivity of FAP. These cases highlight the importance of individual management and surveillance, as genotype alone may not predict clinical outcomes. They also underscore the need for further research into factors that influence FAP expressivity.
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比较两例具有相同 APC 基因型和不同表型的家族性腺瘤性息肉病。
家族性腺瘤性息肉病(FAP)是一种结直肠癌(CRC)易感综合征,其特征是存在大量结直肠腺瘤性息肉,这是由重要的肿瘤抑制剂编码基因 APC 基因中的单个种系、杂合子、可能致病/致病(LP/P)变体引起的。典型的 FAP 是指在 APC 基因中存在种系 LP/P 变异的个体,从青春期开始平均有≥100 个结直肠腺瘤性息肉,而减弱的 FAP 通常表现为较少的结直肠腺瘤性息肉(10-T,p.Arg1450Ter],并且有不同的表现和临床表现。病例 1 描述的是一名 21 岁男性,有广泛的癌症家族史,4 岁时被诊断为 FAP。病例 2 描述的是一名 22 岁女性,无家族病史,在最初出现类苔藓样肿瘤后被诊断为 FAP。尽管基因相似,但他们的临床病程却大相径庭,强调了 FAP 的多变表达性。这些病例强调了个体化管理和监测的重要性,因为仅凭基因型可能无法预测临床结果。这些病例还强调了进一步研究影响 FAP 表达的因素的必要性。
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来源期刊
Cancer Genetics
Cancer Genetics ONCOLOGY-GENETICS & HEREDITY
CiteScore
3.20
自引率
5.30%
发文量
167
审稿时长
27 days
期刊介绍: The aim of Cancer Genetics is to publish high quality scientific papers on the cellular, genetic and molecular aspects of cancer, including cancer predisposition and clinical diagnostic applications. Specific areas of interest include descriptions of new chromosomal, molecular or epigenetic alterations in benign and malignant diseases; novel laboratory approaches for identification and characterization of chromosomal rearrangements or genomic alterations in cancer cells; correlation of genetic changes with pathology and clinical presentation; and the molecular genetics of cancer predisposition. To reach a basic science and clinical multidisciplinary audience, we welcome original full-length articles, reviews, meeting summaries, brief reports, and letters to the editor.
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