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Article: BAP1 Loss, Nuclear Grading, and Nonepithelioid Features in the Diagnosis of Mesothelioma in Italy: Nevermore without the Pathology Report.

Rossi, Giulio / Righi, Luisella / Barbisan, Francesca / Tiseo, Marcello / Spagnolo, Paolo / Grosso, Federica / Pisapia, Pasquale / Malapelle, Umberto / Sculco, Marika / Dianzani, Irma / Abate-Daga, Laura / Davolio, Maria Cristina / Ceresoli, Giovanni Luca / Galetta, Domenico / Pasello, Giulia / Novello, Silvia / Bironzo, Paolo

Journal of personalized medicine

2024 Volume 14, Issue 4

Abstract: The pathologic diagnosis of pleural mesothelioma is generally based on international guidelines, but no compulsory points based on different drugs approvals in different European countries are required to be reported. According to the last (2021) edition ...

Abstract	The pathologic diagnosis of pleural mesothelioma is generally based on international guidelines, but no compulsory points based on different drugs approvals in different European countries are required to be reported. According to the last (2021) edition of the World Health Organization classification of pleural tumors, the nuclear grade of epithelioid-type mesothelioma should be always inserted in the pathologic report, while the presence of BRCA-associated protein-1 (BAP1) (clone C4) loss and a statement on the presence of the sarcomatoid/nonepithelioid component are fundamental for both a screening of patients with suspected
Language	English
Publishing date	2024-04-08
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2662248-8
ISSN	2075-4426
ISSN	2075-4426
DOI	10.3390/jpm14040394
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article: The Glucocorticoid Receptor Polymorphism Landscape in Patients With Diamond Blackfan Anemia Reveals an Association Between Two Clinically Relevant Single Nucleotide Polymorphisms and Time to Diagnosis.

Lonetti, Annalisa / Indio, Valentina / Dianzani, Irma / Ramenghi, Ugo / Da Costa, Lydie / Pospíšilová, Dagmar / Migliaccio, Anna Rita

Frontiers in physiology

2021 Volume 12, Page(s) 745032

Abstract: NR3C1, the gene encoding the glucocorticoid receptor, is polymorphic presenting numerous single nucleotide polymorphisms (SNPs) some of which are emerging as leading cause in the variability of manifestation and/or response to glucocorticoids in human ... ...

Abstract	NR3C1, the gene encoding the glucocorticoid receptor, is polymorphic presenting numerous single nucleotide polymorphisms (SNPs) some of which are emerging as leading cause in the variability of manifestation and/or response to glucocorticoids in human diseases. Since 60-80% of patients with Diamond Blackfan anemia (DBA), an inherited pure red cell aplasia induced by mutations in ribosomal protein genes became transfusion independent upon treatment with glucocorticoids, we investigated whether clinically relevant NR3C1 SNPs are associated with disease manifestation in DBA. The eight SNPs rs10482605, rs10482616, rs7701443, rs6189/rs6190, rs860457, rs6198, rs6196, and rs33388/rs33389 were investigated in a cohort of 91 European DBA patients. Results were compared with those observed in healthy volunteers (
Language	English
Publishing date	2021-10-13
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2564217-0
ISSN	1664-042X
ISSN	1664-042X
DOI	10.3389/fphys.2021.745032
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Article: Distinct Signatures of Tumor-Associated Microbiota and Metabolome in Low-Grade vs. High-Grade Dysplastic Colon Polyps: Inference of Their Role in Tumor Initiation and Progression.

Clavenna, Michela Giulia / La Vecchia, Marta / Sculco, Marika / Joseph, Soni / Barberis, Elettra / Amede, Elia / Mellai, Marta / Brossa, Silvia / Borgonovi, Giulia / Occhipinti, Pietro / Boldorini, Renzo / Robotti, Elisa / Azzimonti, Barbara / Bona, Elisa / Pasolli, Edoardo / Ferrante, Daniela / Manfredi, Marcello / Aspesi, Anna / Dianzani, Irma

Cancers

2023 Volume 15, Issue 12

Abstract: According to the driver-passenger model for colorectal cancer (CRC), the tumor-associated microbiota is a dynamic ecosystem of bacterial species where bacteria with carcinogenic features linked to CRC initiation are defined as "drivers", while ... ...

Abstract	According to the driver-passenger model for colorectal cancer (CRC), the tumor-associated microbiota is a dynamic ecosystem of bacterial species where bacteria with carcinogenic features linked to CRC initiation are defined as "drivers", while opportunistic bacteria colonizing more advanced tumor stages are known as "passengers". We reasoned that also gut microbiota-associated metabolites may be differentially enriched according to tumor stage, and be potential determinants of CRC development. Thus, we characterized the mucosa- and lumen-associated microbiota (MAM and LAM, respectively) and mucosa-associated metabolites in low- vs. high-grade dysplastic colon polyps from 78 patients. We show that MAM, obtained with a new biopsy-preserving approach, and LAM differ in composition and α/β-diversity. By stratifying patients for polyp histology, we found that bacteria proposed as passengers by previous studies colonized high-grade dysplastic adenomas, whereas driver taxa were enriched in low-grade polyps. Furthermore, we report altered "mucosa-associated metabolite" levels in low- vs. high-grade groups. Integrated microbiota-metabolome analysis suggests the involvement of the gut microbiota in the production and consumption of these metabolites. Altogether, our findings support the involvement of bacterial species and associated metabolites in CRC mucosal homeostasis in a tumor-stage-specific manner. These distinct signatures may be used to distinguish low-grade from high-grade dysplastic polyps.
Language	English
Publishing date	2023-06-06
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2527080-1
ISSN	2072-6694
ISSN	2072-6694
DOI	10.3390/cancers15123065
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Article ; Online: Genetic predisposition for malignant mesothelioma: A concise review.

Betti, Marta / Aspesi, Anna / Sculco, Marika / Matullo, Giuseppe / Magnani, Corrado / Dianzani, Irma

Mutation research. Reviews in mutation research

2019 Volume 781, Page(s) 1–10

Abstract: Malignant mesothelioma (MM) is an aggressive cancer associated with asbestos exposure. Studies of familial malignant pleural mesothelioma (MPM) have suggested the existence of a genetic predisposition. Information on the role of genetic risk factors in ... ...

Abstract	Malignant mesothelioma (MM) is an aggressive cancer associated with asbestos exposure. Studies of familial malignant pleural mesothelioma (MPM) have suggested the existence of a genetic predisposition. Information on the role of genetic risk factors in the development of MM has been growing in the last years, and both low- and high-risk genetic factors have been identified, but genetic factors alone (without any exposure to asbestos or other mineral fibers) have never been shown to induce MM. Low-risk genetic factors have been identified in studies that systematically analyzed the whole genome. When considered alone these low-risk genetic factors carry a relative risk of MPM that is 10- to 15-fold lower than that carried by asbestos exposure; however, a large number of these factors in combination may increase the impact of asbestos exposure. High-risk genetic factors include truncating variants in the tumor suppressor BAP1 and in other tumor suppressor genes belonging to DNA repair pathways. Heterozygous germline variants in these genes may favor carcinogenesis if a second somatic variant occurs that impairs the wild-type allele. This impairment can cause genetic instability due to the suppression of a specific DNA repair pathway, and transformation. This genetic predisposition may have translational consequences, as it may predict patient response to drugs that induce tumor-specific synthetic lethality.
MeSH term(s)	Animals ; Asbestos/toxicity ; DNA Repair/drug effects ; DNA Repair/genetics ; Environmental Exposure/adverse effects ; Genetic Predisposition to Disease/genetics ; Germ-Line Mutation/drug effects ; Germ-Line Mutation/genetics ; Humans ; Lung Neoplasms/chemically induced ; Lung Neoplasms/etiology ; Mesothelioma/chemically induced ; Mesothelioma/etiology ; Mesothelioma, Malignant ; Risk Factors
Chemical Substances	Asbestos (1332-21-4)
Language	English
Publishing date	2019-03-06
Publishing country	Netherlands
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	2727833-5
ISSN	1388-2139 ; 1383-5742
ISSN (online)	1388-2139
ISSN	1383-5742
DOI	10.1016/j.mrrev.2019.03.001
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Article: Diagnostics of

Sculco, Marika / La Vecchia, Marta / Aspesi, Anna / Clavenna, Michela Giulia / Salvo, Michela / Borgonovi, Giulia / Pittaro, Alessandra / Witel, Gianluca / Napoli, Francesca / Listì, Angela / Grosso, Federica / Libener, Roberta / Maconi, Antonio / Rena, Ottavio / Boldorini, Renzo / Giachino, Daniela / Bironzo, Paolo / Maffè, Antonella / Alì, Greta /

Elefanti, Lisa / Menin, Chiara / Righi, Luisella / Tampieri, Cristian / Scagliotti, Giorgio Vittorio / Dianzani, Caterina / Ferrante, Daniela / Migliore, Enrica / Magnani, Corrado / Mirabelli, Dario / Matullo, Giuseppe / Dianzani, Irma

Diagnostics (Basel, Switzerland)

2022 Volume 12, Issue 7

Abstract: Germline mutations in the tumor suppressor gene BRCA1-associated protein-1 ( ...

Abstract	Germline mutations in the tumor suppressor gene BRCA1-associated protein-1 (
Language	English
Publishing date	2022-07-13
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2662336-5
ISSN	2075-4418
ISSN	2075-4418
DOI	10.3390/diagnostics12071710
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Article ; Online: A new method for investigating microbiota-produced small molecules in adenomatous polyps.

Barberis, Elettra / Joseph, Soni / Amede, Elia / Clavenna, Michela Giulia / La Vecchia, Marta / Sculco, Marika / Aspesi, Anna / Occhipinti, Pietro / Robotti, Elisa / Boldorini, Renzo / Marengo, Emilio / Dianzani, Irma / Manfredi, Marcello

Analytica chimica acta

2021 Volume 1179, Page(s) 338841

Abstract: The intestinal microbiota is composed of a large number of different bacteria that produce a variety of metabolites. Colorectal cancer, which typically develops from adenomatous polyps, is highly influenced by microbiota. Since a variety of molecular ... ...

Abstract	The intestinal microbiota is composed of a large number of different bacteria that produce a variety of metabolites. Colorectal cancer, which typically develops from adenomatous polyps, is highly influenced by microbiota. Since a variety of molecular changes may occur as these polyps transform from benign tumor to malignant carcinoma, the ability to study the microbiota-produced metabolites can lead to new discoveries about the development and progression of this cancer. However, to address the complexity of the microbiota-produced molecules, novel methods are needed. To this aim, in the present work, we developed a high-throughput metabolomics method to capture the metabolic complexity of the microbiota metabolome adherent to adenomatous polyps and adenocarcinoma. For the first time, the method enables the simultaneous quantification of almost 300 metabolites, while preserving the integrity of the original sample. The metabolomics approach was analytically validated and had excellent performances in terms of recovery, linearity, specificity, intra- and inter-day precision, limits of detection, and quantification. Furthermore, the clinical potential of the method was demonstrated in adenoma collected for a colorectal adenoma study.
Language	English
Publishing date	2021-07-07
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	1483436-4
ISSN	1873-4324 ; 0003-2670
ISSN (online)	1873-4324
ISSN	0003-2670
DOI	10.1016/j.aca.2021.338841
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Article ; Online: Genetic Predisposition to Myelodysplastic Syndromes: A Challenge for Adult Hematologists.

Crisà, Elena / Boggione, Paola / Nicolosi, Maura / Mahmoud, Abdurraouf Mokhtar / Al Essa, Wael / Awikeh, Bassel / Aspesi, Anna / Andorno, Annalisa / Boldorini, Renzo / Dianzani, Irma / Gaidano, Gianluca / Patriarca, Andrea

International journal of molecular sciences

2021 Volume 22, Issue 5

Abstract: Myelodysplastic syndromes (MDS) arising in the context of inherited bone marrow failure syndromes (IBMFS) differ in terms of prognosis and treatment strategy compared to MDS occurring in the adult population without an inherited genetic predisposition. ... ...

Abstract	Myelodysplastic syndromes (MDS) arising in the context of inherited bone marrow failure syndromes (IBMFS) differ in terms of prognosis and treatment strategy compared to MDS occurring in the adult population without an inherited genetic predisposition. The main molecular pathways affected in IBMFS involve telomere maintenance, DNA repair, biogenesis of ribosomes, control of proliferation and others. The increased knowledge on the genes involved in MDS pathogenesis and the wider availability of molecular diagnostic assessment have led to an improvement in the detection of IBMFS genetic predisposition in MDS patients. A punctual recognition of these disorders implies a strict surveillance of the patient in order to detect early signs of progression and promptly offer allogeneic hematopoietic stem cell transplantation, which is the only curative treatment. Moreover, identifying an inherited mutation allows the screening and counseling of family members and directs the choice of donors in case of need for transplantation. Here we provide an overview of the most recent data on MDS with genetic predisposition highlighting the main steps of the diagnostic and therapeutic management. In order to highlight the pitfalls of detecting IBMFS in adults, we report the case of a 27-year-old man affected by MDS with an underlying telomeropathy.
MeSH term(s)	Adult ; Genetic Predisposition to Disease/genetics ; Hematopoietic Stem Cell Transplantation/methods ; Humans ; Male ; Mutation/genetics ; Myelodysplastic Syndromes/genetics
Language	English
Publishing date	2021-03-03
Publishing country	Switzerland
Document type	Case Reports ; Journal Article ; Review
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms22052525
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Article ; Online: Diamond-Blackfan anemia: a ribosomal puzzle.

Dianzani, Irma / Loreni, Fabrizio

Haematologica

2008 Volume 93, Issue 11, Page(s) 1601–1604

MeSH term(s)	Anemia, Diamond-Blackfan/epidemiology ; Anemia, Diamond-Blackfan/genetics ; Anemia, Diamond-Blackfan/physiopathology ; Humans ; Incidence ; Mutation ; Ribosomal Proteins/genetics
Chemical Substances	Ribosomal Proteins ; ribosomal protein S19
Language	English
Publishing date	2008-11
Publishing country	Italy
Document type	Comment ; Editorial
ZDB-ID	2333-4
ISSN	1592-8721 ; 0017-6567 ; 0390-6078
ISSN (online)	1592-8721
ISSN	0017-6567 ; 0390-6078
DOI	10.3324/haematol.2008.000513
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Article ; Online: Genetic Predisposition to Myelodysplastic Syndromes

Elena Crisà / Paola Boggione / Maura Nicolosi / Abdurraouf Mokhtar Mahmoud / Wael Al Essa / Bassel Awikeh / Anna Aspesi / Annalisa Andorno / Renzo Boldorini / Irma Dianzani / Gianluca Gaidano / Andrea Patriarca

International Journal of Molecular Sciences, Vol 22, Iss 5, p

A Challenge for Adult Hematologists

2021 Volume 2525

Abstract	Myelodysplastic syndromes (MDS) arising in the context of inherited bone marrow failure syndromes (IBMFS) differ in terms of prognosis and treatment strategy compared to MDS occurring in the adult population without an inherited genetic predisposition. The main molecular pathways affected in IBMFS involve telomere maintenance, DNA repair, biogenesis of ribosomes, control of proliferation and others. The increased knowledge on the genes involved in MDS pathogenesis and the wider availability of molecular diagnostic assessment have led to an improvement in the detection of IBMFS genetic predisposition in MDS patients. A punctual recognition of these disorders implies a strict surveillance of the patient in order to detect early signs of progression and promptly offer allogeneic hematopoietic stem cell transplantation, which is the only curative treatment. Moreover, identifying an inherited mutation allows the screening and counseling of family members and directs the choice of donors in case of need for transplantation. Here we provide an overview of the most recent data on MDS with genetic predisposition highlighting the main steps of the diagnostic and therapeutic management. In order to highlight the pitfalls of detecting IBMFS in adults, we report the case of a 27-year-old man affected by MDS with an underlying telomeropathy.
Keywords	genetic predisposition ; myelodysplastic syndromes ; inherited bone marrow failure ; Biology (General) ; QH301-705.5 ; Chemistry ; QD1-999
Subject code	306
Language	English
Publishing date	2021-03-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
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Article: New DNA Methylation Signals for Malignant Pleural Mesothelioma Risk Assessment.

Cugliari, Giovanni / Allione, Alessandra / Russo, Alessia / Catalano, Chiara / Casalone, Elisabetta / Guarrera, Simonetta / Grosso, Federica / Ferrante, Daniela / Sculco, Marika / La Vecchia, Marta / Pirazzini, Chiara / Libener, Roberta / Mirabelli, Dario / Magnani, Corrado / Dianzani, Irma / Matullo, Giuseppe

Cancers

2021 Volume 13, Issue 11

Abstract: Malignant pleural mesothelioma (MPM) is a rare and aggressive neoplasm. Patients are usually diagnosed when current treatments have limited benefits, highlighting the need for noninvasive tests aimed at an MPM risk assessment tool that might improve life ...

Abstract	Malignant pleural mesothelioma (MPM) is a rare and aggressive neoplasm. Patients are usually diagnosed when current treatments have limited benefits, highlighting the need for noninvasive tests aimed at an MPM risk assessment tool that might improve life expectancy. Three hundred asbestos-exposed subjects (163 MPM cases and 137 cancer-free controls), from the same geographical region in Italy, were recruited. The evaluation of asbestos exposure was conducted considering the frequency, the duration and the intensity of occupational, environmental and domestic exposure. A genome-wide methylation array was performed to identify novel blood DNA methylation (DNAm) markers of MPM. Multiple regression analyses adjusting for potential confounding factors and interaction between asbestos exposure and DNAm on the MPM odds ratio were applied. Epigenome-wide analysis (EWAS) revealed 12 single-CpGs associated with the disease. Two of these showed high statistical power (99%) and effect size (>0.05) after false discovery rate (FDR) multiple comparison corrections: (i) cg03546163 in
Language	English
Publishing date	2021-05-27
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2527080-1
ISSN	2072-6694
ISSN	2072-6694
DOI	10.3390/cancers13112636
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