The implementation of innovative diagnostic and genetic tests techniques has created the possibility to identify various molecular markers that have been considered potential prognostic factors as well as targets of the so-called target therapies. Such activities permit:
- To assess the patient’s predisposition to a disease;
- To prevent patients’ risks from getting a specific disease.
The opportunity to study the gene profile of a single disease leads to a more refined selection of those patients who are truly at risk of getting a disease again, as well as leading to a more precise use of therapeutic resources.
Gynecological disorders and breast diseases
Here below are listed the immunohistochemistry (IHC) and genetic tests available at the Policlinico Universitario A. Gemelli IRCCS, regarding Gynecological disorders and breast diseases:
- CAM5.2, AE1/AE3, keratins 5/6, keratin 7, keratin 19, keratin 20, CKHMW, EMA, WT1, CA125, ER, PR, calretin, Podoplanin, Trombomodulin, Vimentin, CD31, CD34, Fatt VIII, p16, GATA3, Inhibin, CD56, Chromogran, Sinaptophysin, NSE, S100, HBME-45, Melan A, MITF, Tyrosinase, Muc 1, Muc 2, Muc 5Ac, CEA, beta-catenin, PTEN, CD10, p53, PAX8, p63, p53, p40, LCA, PanLEU, CDX2, TTF1, AFP, Hep-Par 1, alfa 1 antitrypsin, Ki67, desmin, caldesmon, smooth muscle actin, myogenin, myoglobin, Myo-D1, glypican 3, betaHCG, MDM2, CD117, ALK, STAT6, CD34, TLE1, Leukocyte Markers;
- SISH technique for HER2 E ALK amplification.
Cervix, vulva and vagina
The implementation of a standardized score system is suggested in order to asses the entity of tumor regression post-NAD (TRG1-5 sec. Mandard).
Work in progress. Genotypic research and determination of Human Papilloma Virus (HPV) is carried out through a Triple Test (p-16 IHC/ICC, consensus PCR-HPV-DNA and ISH) by cytological examination and by biopsy (such research, furthermore, can be suggested externally as a private practice service).
Endometrial cancer
A combined molecular and immunohistochemistry study is suggested to precisely identify and establish the prognostic risk of endometrial cancer, consisting of: p53, p16 and MMR IHC (MSH6, MSH2, MLH1, PMS2), ER/PR/HER2 status.
Endometrial Stromal Sarcomas
An immunohistochemistry study is carried out on the Cyclin D1 function.
Ovary
In high-grade serous ovarian cancer:
- Somatic tissue status of p53 e HER-neu
- BRCA 1/2 somatic
- BRCA 1/2 germinal [Implemented by XBioGem at the Fondazione’s laboratories]
- Microsatellite instability
In low-grade serous carcinomas:
- HER-neu.
In clear-cell carcinomas:
- Microsatellite instability
