Mehtap EROĞLU, Teoman KANKILIÇ, Dilara Fatma AKIN BALİ, Sedef Hande AKTAŞ

24-year-old Male patient Diagnosed with Intramucosal Signet Ring Cell Gastric Cancer with Molecular Analysis: A Case Report

Stomach cancer is the third leading cause of death among cancer-related deaths in the world. Signet-ring cell carcinoma (SRCC), a type of gastric adenocarcinoma, is frequently diagnosed in people aged fifty or older, and its incidence increases with age, but SRCC is rare in young age groups. In general, this type of cancer is thought to be more aggressive and has a worse prognosis than other types of gastric cancer. However, there are uncertainties about the characteristics and survival outcomes. Since the diagnostic tools used in patients with SRCC have low sensitivity and specificity in diagnosis and prognosis, it is important to support the diagnosis, follow-up of treatment and relapse with molecular genetic biomarkers. The aim in the current case is to see if TP53, which is the most frequently mutated gene in SRCC and NF1, that is expressed as one of the largest genes in the human genome and classified as a tumor suppressor gene, can be used as a prognostic genetic biomarker in the pathogenesis of early SRCCIt is predicted that P53 may be a determinant factor in the pathogenesis of SRCC due to the mutation burden in this case.

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1. Ferlay J, Colombet M, Soerjomataram I, Mathers C, Parkin DM, Piñeros M, et al. Estimating the global cancer incidence and mortality in 2018: GLOBOCANsources and methods. Int J Cancer 2019;144(8):1941–53.
2. Yalcin S. Gastric cancer in Turkey-a bridge between west and East. Gastrointest Cancer Res 2009;3(1):29–32.
3. Şahin M, Tanrıkulu Y, Erel S, Bayraktar K, Akkuş MA. Mide Kanserinde Gastrektomi Deneyimlerimiz. Bid-der Tıp Bilimleri Dergisi 2010;2:20–6.
4. Cormedi MCV, Katayama MLH, Guindalini RSC, Faraj SF, Folgueira MAAK. Survival and prognosis of young adults with gastric cancer. Clinics (Sao Paulo) 2018;73(suppl 1):e651s.
5. Machlowska J, Pucułek M, Sitarz M, Terlecki P, Ma-ciejewski R, Sitarz R. State of the art for gastric signet ring cell carcinoma: from classification, prognosis, and genomic characteristics to specified treatments. Cancer Manag Res 2019;11:2151–61.
6. Pernot S, Voron T, Perkins G, Lagorce-Pages C, Berger A, Taieb J. Signet-ring cell carcinoma of the stomach: Impact on prognosis and specific therapeuticchal-lenge. World J Gastroenterol 2015;21(40):11428–38.
7. Levine AJ, Momand J, Finlay CA. The p53 tumour suppressor gene. Nature 1991;351(6326):453–6.
8. Busuttil RA, Zapparoli GV, Haupt S, Fennell C, Wong SQ, Pang JM, et al. Role of p53 in the progression of gastric cancer. Oncotarget 2014;5(23):12016–26.
9. Olivier M, Hollstein M, Hainaut P. TP53 mutations in human cancers: origins, consequences, and clinical use. Cold Spring Harb Perspect Biol 2010;2(1):a001008.
10. Puccini A, Poorman K, Salem ME, Goldberg RM, Shields AF, Xiu J, et al. Comprehensive molecular profiling of signet-ring-cell carcinoma (SRCC) from the stomach and colon. Journal of Clinical Oncology 2018;36:4098.
11. Liu D, Zhang Y, Li Y, Fan K. Neurofibromatosis type-1 is a prognostic indicator in human gastric carcinoma. Oncotarget 2017;8(47):82910–9.
12. Trovó-Marqui AB, Tajara EH. Neurofibromin: a general outlook. Clin Genet 2006;70(1): 1–13.
13. Philpott C, Tovell H, Frayling IM, Cooper DN, Upadhyaya M. The NF1 somatic mutational landscape in sporadic human cancers. Hum Genomics 2017;11(1):13.
14. Cichowski K, Jacks T. NF1 tumor suppressor gene function: narrowing the GAP. Cell 2001;104(4):593604.
15. Baptiste N, Friedlander P, Chen X, Prives C. The proline-rich domain of p53 is required for cooperation with anti-neoplastic agents to promote apoptosis of tumor cells. Oncogene 2002;21(1):9–21.
16. Oliveira C, Seruca R, Carneiro F. Genetics, pathology, and clinics of familial gastric cancer. Int J Surg Pathol 2006;14(1):21–33.
17. Chung HW, Noh SH, Lim JB. Analysis of demographic characteristics in 3242 young age gastric cancer patients in Korea. World J Gastroenterol 2010;16(2):256–63.
18. Nakamura R, Saikawa Y, Takahashi T, Takeuchi H, Asanuma H, Yamada Y, et al. Retrospective analysis of prognostic outcome of gastric cancer in young patients. Int J Clin Oncol 2011;16(4):328–34.
19. Bray F, Ferlay J, Soerjomataram I, Siegel RL, Torre LA, Jemal A. Global cancer statistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin 2018;68(6):394–424.
20. Mi L, Ji X, Ji J. Prognostic biomarker in advanced gastric cancer. Transl Gastrointest Cancer 2016;5(1):16–29.
21. Yang Y, Deng CS, Peng JZ, Wong BC, Lam SK, Xia HH. Effect of Helicobacter pylori on apoptosis and apoptosis related genes in gastric cancer cells. Mol Pathol 2003;56(1):19–24.
22. Anna A, Monika G. Splicing mutations in human genetic disorders: examples, detection, and confirmation. J Appl Genet 2018;59(3):253–68.