{"id":2505,"date":"2025-10-03T12:49:40","date_gmt":"2025-10-03T12:49:40","guid":{"rendered":"https:\/\/staging.irccs.com\/?post_type=laboratory&p=2505"},"modified":"2025-11-12T10:19:20","modified_gmt":"2025-11-12T10:19:20","slug":"experimental-molecular-pathology-laboratory","status":"publish","type":"laboratory","link":"https:\/\/irccs.com\/it\/laboratori\/experimental-molecular-pathology-laboratory\/","title":{"rendered":"EXPERIMENTAL MOLECULAR PATHOLOGY LABORATORY\u00a0"},"content":{"rendered":"\n

<\/span>Research topic<\/h2>\n\n\n\n

The main focus of the laboratory is the Molecular Profiling of tumoral lesions across tissue samples, with a specific interest in breast cancer (including tumors, pre-invasive lesions and normal counterparts), with the final aim to design and select effective therapies and curtail treatment resistance.<\/p>\n\n\n\n

<\/span>Background<\/h2>\n\n\n\n

Heterogeneity of carcinomas is a well-known phenomenon, already appreciable by pathologists on morphological grounds and by profiling tumours with a handful of immunohistochemical markers commonly used in clinical practice. Moreover, The Cancer Genome Atlas (TCGA) studies based on next generation sequencing analyses have recently provided evidence of high genetic heterogeneity even between cancers of the same type. As a further level of complexity, the tumour microenvironment also contributes to intratumour heterogeneity and several studies have demonstrated the prognostic stratification value offered by the information stemming from the microenvironment, such as the simple count of tumor infiltrating mononuclear cells. Intra- and inter-tumour heterogeneity hampers the ability to design and select effective therapies and curtail treatment resistance, which is the goal of precision medicine.<\/p>\n\n\n\n

<\/span>Research achievements<\/h2>\n\n\n\n

Since 2018 the laboratory has optimized and incorporated several cutting-edge techniques in the portfolio of projects currently running mainly on breast, colorectal and gynaecological cancers. Several external and internal collaborations have been set up with the intent to join forces on common objectives. The Laboratory also actively collaborates with the FPO facilities, in particular the sequencing and single cell facilities. <\/p>\n\n\n\n

<\/span>Conclusions and perspectives<\/h2>\n\n\n\n

The overall clinical-translational goal of the laboratory is to identify novel diagnostic, prognostic and predictive stratification methods for patients, in particular for breast cancer patients. The analytical complexity of the activities of the lab is recently embracing not only tissue but also liquid biopsies to pinpoint tumor lesions from different angles in a multifaceted fashion.<\/p>\n\n\n\n

\"\"
NMF cluster discovery applied to HER2-low breast cancer cases identifies four signatures. The 4 clusters are annotated with respect to IHC class, IHC, and PAM50 subtypes and by the color map of their associated metagenes. For each cluster, specific features are reported, in the form of boxplots, OncoPrint, lollipop plot, H&Es, and FISH images. The ontological derived terms describing the main features of each group are reported on the right-hand side leading to the LAURA acronym for the classification: LA, lymphocyte activated; U, unique HER2-gain; R tumor-stroma remodeling; A, actionable PIK3CA.<\/em><\/figcaption><\/figure>\n\n\n\n

<\/span>Publications<\/h2>\n\n\n\n

At this link<\/a><\/strong>, you can find all the scientific publications of the Principal Investigator.<\/p>\n\n\n\t

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Selected publications<\/h2>\n\t\t\t\t
\n\t\t\t\t\t\t\t\t\t\t\t\t
\n\t\t\t\t\t\t\t\t\t\t\t\t\tAlternative Tissue Fixation Protocols Dramatically Reduce the Impact of DNA Artifacts. Unraveling the Interpretation of Clinical Comprehensive Genomic Profiling<\/a>\n\t\t\t\t\t\t\t\t\t\t\t\t

Berrino E, Bellomo SE, Chesta A, Detillo P, Bragoni A, Gagliardi A, Naccarati A, Cereda M, Witel G, Sapino A, Bussolati B, Bussolati G, Marchi\u00f2 C. <\/p>\n\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t

\n\t\t\t\t\t\t\t\t\t\t\t\t\tIntegrative genomic and transcriptomic analyses illuminate the ontology of HER2-low breast carcinomas.<\/a>\n\t\t\t\t\t\t\t\t\t\t\t\t

Berrino E, Annaratone L, Bellomo SE, Ferrero G, Gagliardi A, Bragoni A, Grassini D, Guarrera S, Parlato C, Casorzo L, Panero M, Sarotto I, Giordano S, Cereda M, Montemurro F, Ponzone R, Crosetto N, Naccarati A, Sapino A, Marchi\u00f2 C. <\/p>\n\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t

\n\t\t\t\t\t\t\t\t\t\t\t\t\tUnique Patterns of Heterogeneous Mismatch Repair Protein Expression in Colorectal Cancer Unveil Different Degrees of Tumor Mutational Burden and Distinct Tumor Microenvironment Features<\/a>\n\t\t\t\t\t\t\t\t\t\t\t\t

Berrino E, Aquilano MC, Valtorta E, Amodio V, Germano G, Gusmini M, Gizzi K, Fenocchio E, Sapino A, Marsoni S, Sartore-Bianchi A, Bardelli A, Siena S, Bonoldi E, Marchi\u00f2 C. <\/p>\n\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t

\n\t\t\t\t\t\t\t\t\t\t\t\t\tCollision of germline POLE and PMS2 variants in a young patient treated with immune checkpoint inhibitors<\/a>\n\t\t\t\t\t\t\t\t\t\t\t\t

Berrino E, Filippi R, Visintin C, Peirone S, Fenocchio E, Farinea G, Veglio F, Aglietta M, Sapino A, Cereda M, Visintin R, Pasini B, Marchi\u00f2 C. <\/p>\n\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t

\n\t\t\t\t\t\t\t\t\t\t\t\t\tPursuit of Gene Fusions in Daily Practice: Evidence from Real-World Data in Wild-Type and Microsatellite Instable Patients<\/a>\n\t\t\t\t\t\t\t\t\t\t\t\t

Berrino E, Bragoni A, Annaratone L, Fenocchio E, Carnevale-Schianca F, Garetto L, Aglietta M, Sarotto I, Casorzo L, Venesio T, Sapino A, Marchi\u00f2 C. <\/p>\n\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t<\/div>\n\t<\/div>\n<\/div>\n\n\t<\/div>\n","protected":false},"featured_media":0,"template":"","meta":{"_acf_changed":true,"footnotes":""},"class_list":["post-2505","laboratory","type-laboratory","status-publish","hentry"],"acf":[],"yoast_head":"\nEXPERIMENTAL MOLECULAR PATHOLOGY LABORATORY\u00a0 - Istituto di Candiolo<\/title>\n<meta name=\"description\" content=\"Research topic The main focus of the laboratory is the Molecular Profiling of tumoral lesions across tissue samples, with a specific interest in breast\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/irccs.com\/it\/laboratori\/experimental-molecular-pathology-laboratory\/\" \/>\n<meta property=\"og:locale\" content=\"it_IT\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"EXPERIMENTAL MOLECULAR PATHOLOGY LABORATORY\u00a0 - 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