Adenocarcinoma of unknown primary with TP53 gene polymorphism: a rare case report with literature review

IF 3.4 Q2 PHARMACOLOGY & PHARMACY
Raushan Kumar Chaudhary, Uday Venkat Mateti, Jayaprakash Shetty, Prakash Patil, Vinay C. Sangamesh, Vijith Vittal Shetty
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引用次数: 0

Abstract

Background

Cancer of unknown primary (CUP) is an orphan disease generally presented by undifferentiated and aggressive morphological phenotype. The treatment of CUP is solely dependent upon the origin of cancer. Despite extensive diagnostic testing, in most of the cases the primary site remains unidentifiable.

Case presentation

This case demonstrates a 75-year-old male patient, who initially presented with the complaints of swelling over right side of the neck since 2 months. A cervical lymph node biopsy was taken for immunohistochemistry, which revealed cytokeratin (CK) and CK7 markers to be positive. Computerized tomography (CT) of Thorax showed subcentimetric subpleural nodules in bilateral lungs fields, predominantly in lower lobes (metastatic in nature). A subsequent pulmoCORE 12 gene panel test was recommended, and patient was discharged with tablet gefitinib 250mg and capsule containing vitamins plus minerals. After one month, patient revisited with the pulmoCORE 12 gene test report which revealed polymorphism in TP53. A pathogenic variant of tumor protein p53 (TP53), i.e., p.Glu198Ter (amino acid alteration) and c.592G > T (coding) variant, was detected, which has 17.2% variant allele frequency. There are no treatment guidelines for TP53 mutation; therefore, the patient was treated with injection paclitaxel 70mg and carboplatin 100mg for 12 cycles along with palliative radiotherapy of 20 Gy for 5 fractions. The overall prognosis of patient was found to be favorable.

Conclusions

There is a need for development of comprehensive guidelines and new molecularly targeted therapies for treatment of CUP which can be tailored for each patient and achieve precise therapeutic outcome.

原发灶不明的腺癌伴 TP53 基因多态性:一例罕见病例报告及文献综述
背景不明原发性癌症(CUP)是一种孤儿病,通常表现为未分化和侵袭性形态表型。CUP 的治疗完全取决于癌症的起源。尽管进行了广泛的诊断检测,但大多数病例的原发部位仍然无法确定。本病例显示的是一名 75 岁的男性患者,起初主诉右侧颈部肿胀 2 个月。患者进行了颈部淋巴结活检,并进行了免疫组化检查,结果显示细胞角蛋白(CK)和 CK7 标记呈阳性。胸部计算机断层扫描(CT)显示,双侧肺野胸膜下结节,主要位于下叶(转移性)。随后,医生建议对患者进行 pulmoCORE 12 基因小组检测,并让患者服用吉非替尼 250 毫克片剂和含有维生素和矿物质的胶囊。一个月后,患者带着 pulmoCORE 12 基因检测报告再次就诊,结果显示 TP53 存在多态性。检测到肿瘤蛋白 p53(TP53)的致病变异,即 p.Glu198Ter(氨基酸改变)和 c.592G>T(编码)变异,其变异等位基因频率为 17.2%。目前还没有针对 TP53 基因突变的治疗指南;因此,患者接受了紫杉醇 70 毫克和卡铂 100 毫克注射液 12 个周期的治疗,同时接受了 5 次 20 Gy 的姑息性放疗。结论:有必要为治疗 CUP 制定全面的指南和新的分子靶向疗法,以便为每位患者量身定制治疗方案,达到精确的治疗效果。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
自引率
0.00%
发文量
44
审稿时长
23 weeks
期刊介绍: Future Journal of Pharmaceutical Sciences (FJPS) is the official journal of the Future University in Egypt. It is a peer-reviewed, open access journal which publishes original research articles, review articles and case studies on all aspects of pharmaceutical sciences and technologies, pharmacy practice and related clinical aspects, and pharmacy education. The journal publishes articles covering developments in drug absorption and metabolism, pharmacokinetics and dynamics, drug delivery systems, drug targeting and nano-technology. It also covers development of new systems, methods and techniques in pharmacy education and practice. The scope of the journal also extends to cover advancements in toxicology, cell and molecular biology, biomedical research, clinical and pharmaceutical microbiology, pharmaceutical biotechnology, medicinal chemistry, phytochemistry and nutraceuticals.
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