Synchronous Recto-Sigmoid Colorectal Carcinomas With Microsatellite Instability and an Activating PIK3CA Mutation

被引:1
|
作者
Mathavan, Mohit [1 ]
Mathavan, Akash [2 ]
Mathavan, Akshay [2 ]
Altshuler, Ellery [2 ]
机构
[1] St Georges Univ, Sch Med, Great River, NY USA
[2] Univ Florida, Gainesville, FL 32611 USA
来源
JOURNAL OF INVESTIGATIVE MEDICINE HIGH IMPACT CASE REPORTS | 2022年 / 10卷
关键词
synchronous colorectal carcinoma; microsatellite instability; immunotherapy; MISMATCH-REPAIR; COLON-CANCER; FEATURES; BLOCKADE;
D O I
10.1177/23247096221121406
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Synchronous colorectal cancer is a rare subtype of colorectal carcinoma defined by the presence of 2 or more primary tumors simultaneously or within 6 months of initial detection. The overall impact of a synchronous presentation on prognosis is not yet clear. Surgical resection is the primary treatment. However, higher rates of local recurrence and metastasis in synchronous colorectal cancer demand greater exploration of the role of adjuvant therapy. The increased frequency of microsatellite instability observed in synchronous colorectal cancer also affects therapy selection. Similarly, activating PIK3CA mutations are regularly noted in colorectal cancer, but their role in a synchronous presentation has not yet been described. We report a case of a young patient with a synchronous recto-sigmoid colorectal carcinoma complicated by microsatellite instability and an activating PIK3CA mutation-a presentation as of yet unreported in literature. We also review the impact of these molecular events on the efficacy of several chemotherapies and targeted therapies.
引用
收藏
页数:5
相关论文
共 50 条
  • [1] Testing for PIK3CA and BRAF Mutations in Colorectal Cancer with Microsatellite Instability
    Murtaza, S.
    Fadhil, W. M.
    Hassall, J.
    Ebili, H. O.
    Ilyas, M.
    JOURNAL OF PATHOLOGY, 2018, 246 : S32 - S32
  • [2] PIK3CA mutation in gastric cancer and the role of microsatellite instability status in mutations of exons 9 and 20 of the PIK3CA gene
    Polom, Karol
    Marrelli, Daniele
    Roviello, Giandomenico
    Pascale, Valeria
    Voglino, Costantino
    Vindigni, Carla
    Generali, Daniele
    Roviello, Franco
    ADVANCES IN CLINICAL AND EXPERIMENTAL MEDICINE, 2018, 27 (07): : 963 - 969
  • [3] PIK3CA mutations are associated with PTEN alterations and correlate with microsatellite instability in endometrial carcinomas
    Gallardo, A.
    Catasus, L. L.
    Ribe, A.
    Gonzalez, A.
    Munoz, J.
    Cuatrecasas, M.
    Prat, J.
    MODERN PATHOLOGY, 2007, 20 : 198A - 198A
  • [4] PIK3CA mutations are associated with PTEN alterations and correlate with microsatellite, instability in endometrial carcinomas
    Gallardo, A.
    Catasus, L. L.
    Ribe, A.
    Gonzalez, A.
    Munoz, J.
    Cuatrecasus, M.
    Prat, J.
    LABORATORY INVESTIGATION, 2007, 87 : 198A - 198A
  • [5] PIK3CA Activating Mutation in Colorectal Carcinoma: A Stratified Analysis in a Prospective Cohort
    Rosty, C.
    Young, J. P.
    Walsh, M. D.
    Clendenning, M.
    Jenkins, M. A.
    Win, A. K.
    Southey, M. C.
    Parry, S.
    Hopper, J. L.
    Giles, G. G.
    Williamson, E.
    English, D. R.
    Buchanan, D. D.
    MODERN PATHOLOGY, 2013, 26 : 175A - 176A
  • [6] PIK3CA Activating Mutation in Colorectal Carcinoma: A Stratified Analysis in a Prospective Cohort
    Rosty, C.
    Young, J. P.
    Walsh, M. D.
    Clendenning, M.
    Jenkins, M. A.
    Win, A. K.
    Southey, M. C.
    Parry, S.
    Hopper, J. L.
    Giles, G. G.
    Williamson, E.
    English, D. R.
    Buchanan, D. D.
    LABORATORY INVESTIGATION, 2013, 93 : 175A - 176A
  • [7] PIK3CA Activating Mutation in Colorectal Carcinoma: Associations with Molecular Features and Survival
    Rosty, Christophe
    Young, Joanne P.
    Walsh, Michael D.
    Clendenning, Mark
    Sanderson, Kristy
    Walters, Rhiannon J.
    Parry, Susan
    Jenkins, Mark A.
    Win, Aung Ko
    Southey, Melissa C.
    Hopper, John L.
    Giles, Graham G.
    Williamson, Elizabeth J.
    English, Dallas R.
    Buchanan, Daniel D.
    PLOS ONE, 2013, 8 (06):
  • [8] PIK3CA mutation and colorectal cancer precision medicine
    Hamada, Tsuyoshi
    Nowak, Jonathan A.
    Ogino, Shuji
    ONCOTARGET, 2017, 8 (14) : 22305 - 22306
  • [9] Influence of race on the prevalence of Pik3ca, Tgfbrii mutations, and microsatellite instability in sporadic colorectal cancer
    Shen, Xiang Jun
    Gupta, Nikhil
    Peacock, Janie
    Wolfe, Michelle
    Borcal, Lauren
    Martin, Chris
    Sandler, Robert S.
    Keku, Temitope O.
    GASTROENTEROLOGY, 2007, 132 (04) : A637 - A637
  • [10] Somatic activating PIK3CA mutation and unifocal venous malformation
    Dereure, O.
    ANNALES DE DERMATOLOGIE ET DE VENEREOLOGIE, 2016, 143 (04): : 328 - 329