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A first report of a rare TP53 variant associated with Li-Fraumeni syndrome manifesting as invasive breast cancer and malignant solitary fibrous tumor
World Journal of Surgical Oncology ( IF 2.5 ) Pub Date : 2021-08-27 , DOI: 10.1186/s12957-021-02370-8
Juraj Prejac 1, 2 , Natalija Dedić Plavetić 1, 3 , Kristina Gotovac Jerčić 4 , Fran Borovečki 4, 5
Affiliation  

Li-Fraumeni is a rare autosomal dominant cancer predisposition syndrome. The basis is a germline mutation of TP53 gene which encodes tumor suppressor protein resulting in early onset of tumors, most often breast cancer, soft tissue sarcomas, brain tumors, adrenocortical carcinomas, and leukemia. We present a case of a young woman with a positive family history for cancer diagnosed with malignant solitary fibrous tumor and luminal B-like invasive breast cancer. Breast cancer and sarcomas account for the majority of tumors associated with Li-Fraumeni syndrome, yet solitary fibrous tumor is a rare clinical entity with no established guidelines for treatment. Even though both primary tumors were successfully resected, the sarcoma relapsed in the form of lung metastases. The NGS analysis revealed single nucleotide variant (c.1101-1G>A) in TP53 gene, affecting the acceptor splice site at intron 10. Until now, only one case of this genetic variant has been documented with conflicting interpretations of pathogenicity. The knowledge of TP53 mutation status is essential since the management of these patients requires different approach to avoid excessive toxicity due to the risk of developing secondary malignancy. Using the clinical criteria to screen for affected individuals facilitates appropriate early genetic counseling of patients and their families. Following the American College of Medical Genetics criteria, we believe that the reported single nucleotide variant (c.1101-1G>A) in TP53 gene should be considered pathogenic.

中文翻译:

首次报告与 Li-Fraumeni 综合征相关的罕见 TP53 变异,表现为浸润性乳腺癌和恶性孤立性纤维瘤

Li-Fraumeni 是一种罕见的常染色体显性遗传癌症易感综合征。其基础是 TP53 基因的种系突变,该基因编码肿瘤抑制蛋白,导致肿瘤早发,最常见的是乳腺癌、软组织肉瘤、脑肿瘤、肾上腺皮质癌和白血病。我们介绍了一例具有阳性癌症家族史的年轻女性,被诊断为恶性孤立性纤维瘤和管腔 B 样浸润性乳腺癌。乳腺癌和肉瘤占与 Li-Fraumeni 综合征相关的大部分肿瘤,但孤立性纤维瘤是一种罕见的临床实体,没有既定的治疗指南。尽管成功切除了两个原发肿瘤,但肉瘤仍以肺转移的形式复发。NGS 分析揭示了 TP53 基因中的单核苷酸变异(c.1101-1G>A),影响内含子 10 的受体剪接位点。到目前为止,只有一例这种遗传变异被记录在案,对致病性的解释相互矛盾。TP53 突变状态的知识是必不可少的,因为对这些患者的管理需要不同的方法来避免由于发生继发性恶性肿瘤的风险而导致的过度毒性。使用临床标准筛选受影响的个体有助于对患者及其家人进行适当的早期遗传咨询。根据美国医学遗传学学会的标准,我们认为报告的 TP53 基因单核苷酸变异(c.1101-1G>A)应被认为是致病性的。TP53 突变状态的知识是必不可少的,因为对这些患者的管理需要不同的方法来避免由于发生继发性恶性肿瘤的风险而导致的过度毒性。使用临床标准筛选受影响的个体有助于对患者及其家人进行适当的早期遗传咨询。根据美国医学遗传学学会的标准,我们认为报告的 TP53 基因单核苷酸变异(c.1101-1G>A)应被认为是致病性的。TP53 突变状态的知识是必不可少的,因为对这些患者的管理需要不同的方法来避免由于发生继发性恶性肿瘤的风险而导致的过度毒性。使用临床标准筛选受影响的个体有助于对患者及其家人进行适当的早期遗传咨询。根据美国医学遗传学学会的标准,我们认为报告的 TP53 基因单核苷酸变异(c.1101-1G>A)应被认为是致病性的。使用临床标准筛选受影响的个体有助于对患者及其家人进行适当的早期遗传咨询。根据美国医学遗传学学会的标准,我们认为报告的 TP53 基因单核苷酸变异(c.1101-1G>A)应被认为是致病性的。使用临床标准筛选受影响的个体有助于对患者及其家人进行适当的早期遗传咨询。根据美国医学遗传学学会的标准,我们认为报告的 TP53 基因单核苷酸变异(c.1101-1G>A)应被认为是致病性的。
更新日期:2021-08-29
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