Molecular Patology

Molecular Pathology currently carries out numerous molecular diagnostic tests to detect and identify somatic and germline mutations in DNA samples extracted from blood and tissues and from samples fixed in formalin and embedded in paraffin.

In the field of molecular oncology, tests are carried out aimed at:

• Detection and identification, using Real-Time PCR methods, of the main mutations of the KRAS, BRAF, NRAS, PIK3CA, ALK, ROS, MET, MAPK21 genes correlated with the response to treatment with anti-EGFR monoclonal antibodies (Anti-EGFR MoAb ) of colorectal cancer and with the response to treatment with tyrosine kinase inhibitor drugs (EGFR TKI) of non-small cell lung cancer (NSCLC) and other solid tumors.
• Detection and identification, using Next Generation Sequencing (NGS) methods, of somatic pathogenic variants through Diatech Myriapod panel and amplicon-based NGS-DNA and NGS-RNA panel ONCOMINE FOCUS ASSAY (ThermoFisher),
• Detection and analysis, using NGS, of variants associated with hereditary tumor pathologies through the TruSightTM Hereditary Cancer panel.
• Identification of variants in genes mainly involved in myeloid neoplasms, using the SOPhia Myeloid Solution (IVD) NGS Panel.
• Search for B and T clonality for the diagnosis of lymphoma, through analysis of fragments in capillary electrophoresis
• Research of Somatic Hypermutation for prognosis in Chronic Lymphatic Leukemia.
• Methylation analysis of the MGMT gene promoter
• Analysis of the RET gene (MEN2)
• Analysis of the MEN1 gene, associated with Multiple Endocrine Neoplasia Type 1
• Analysis of the CDKN1B gene, (Cyclin-Dependent Kinase Inhibitor 1B), associated with Multiple Endocrine Neoplasia type 4 (MEN4).
• Analysis of mutations in the CDKN2A and CDK4 genes associated with Familial Melanoma
• Analysis of the P265L variant of the MYD88 gene associated with the presence of Vitreo-Retinal Lymphoma
• Analysis of Copy Number Variation and methylation aberrations in the MLH1, PSM2, MSH2 and MLH6 genes for the diagnosis of Lynch Syndrome using MS-MLPA.

In the field of Molecular Genetics, Pharmacogenetic tests are carried out including:

• Analysis of germline mutations of the DPYD Gene related to treatment with 5-Fluorouracil (5-FU): in particular, the four variants most frequently implicated in adverse reactions from 5-FU are investigated
• Tandem Repeat analysis of the UGT1A1 gene correlated to Irinotecan treatment

Other Molecular Genetics tests relating to non-oncological pathologies are also carried out such as:

• Analysis of C282Y and H63F mutations associated with Hereditary Hemochromatosis
• Analysis of platelet glycoprotein polymorphisms (GP3)
• Analysis of the E2 E3 E4 polymorphisms of codons 112 and 158 of Apolipoprotein E associated with dyslipidemia and Alzheimer's disease
• Identification of the hybrid (chimeric) CYP11B1/CYP11B2 gene associated with Glucocorticoid Remediable Aldosteronism (GRA).
• Analysis of mutations in exon 13 of the SCNN1B and SCNN1G genes associated with Liddle's syndrome
• Analysis of NOTCH3 gene mutations associated with CADASIL
• Analysis of mutations in the MEFV gene associated with Familial Mediterranean Fever
• DNA analysis of the VHL (Von Hippel Lindau) gene associated with von Hippel Lindau syndrome.
• Analysis of polymorphisms of the c.430C>T (CYP2C9*2) and c.1075A>C (CYP2C9*3) CYP2C9 gene associated with the risk of therapeutic non-response or adverse reactions to drugs such as Warfarin or Phenytoin.
• Analysis of exon 3 of the UBA1 gene to search for the p.Met41* variant associated with VEXAS syndrome
• Analysis of the MVK, TNFRSF1A, NLRP3, NLRC4, PSPIP1, NOD2, ADA2 genes for the search for variants related to monogenic auto-inflammatory diseases, using an NGS panel and Sanger sequencing.
• Identification by RFLP-PCR and allele-specific PCR of the Rh Genotype D, C, E
• Search by direct sequencing of mutations of all exons of the genes: CLCNKB for Bartter Syndrome, SLC12A3 for Gitelman Syndrome.…