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Contact data |
Full Professor
of Medical Genetics |
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Biography |
Born on July 16th, 1946. Graduated in Medicine in 1971. Fellow at the University of Pavia, Inst. General Biology and Medical Genetics 1971-1973. Assistant Professor at the University of Pavia, Inst. General Biology and Medical Genetics 1973-1983. Associate Professor of Medical Genetics, Medical Faculty, University of Pavia 1983-1986. Full Professor of General Biology, Medical Faculty, University of Sassari 1986-1989. Full Professor of Medical Genetics, Medical Faculty, University of Pavia, 1989-1998. Since the foundation of the University of Insubria, July 14th, 1998, Full Professor of Medical Genetics, School of Medicine, University of Insubria. |
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Qualifications and awards |
Official Reviewer of the
Italian Ministry of University and Research for research projects
of national interest in the field of Human Genetics. Member of the
Italian Society of Human Genetics. Member of the European Cytogeneticists Association. Member of the Board of the Italian Association of Human Cytogenetics 1987-1990. Member of the Board of the Italian Association of Medical Genetics 1990-1993. |
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Research interests |
Research in different fields
of Medical Genetics, mainly in Medical Cytogenetics. Studies on karyotype/phenotype
correlations in patients with constitutional chromosome anomalies,
on acquired chromosome changes in neoplasms, mainly in haematological
proliferative disorders, with special interest in myeloproliferative
diseases. Research interests of the last years included molecular
cytogenetic studies on monosomy 7 and trisomy 8, and investigations
on the mechanism of origin, the preferential parental origin of involved
chromosomes, and on the pathogenetic role of the most frequent chromosome
changes in myeloid neoplastic and dysplastic disorders. More recent work is concerned with the three following points: - Mutator effects acting through chromosome changes in Myelodysplasia (MDS) and Acute Myeloid Leukaemia (AML): studies on Mendelian predisposing disorders, such as FPD/AML (Familial platelet disorder with propension to AML/MDS – OMIM 601399), Shwachman syndrome, familial AML/MDS, congenital neutropenia, Rothmund-Thomson syndrome, Noonan syndrome; - Mechanisms of origin of structural chromosome changes in AML/MDS; - Mechanisms of origin of numerical chromosome changes in AML/MDS. |
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Teaching experience and appointments |
The teaching experience
includes: - Courses of General Biology in the Course for the degree in Medicine and Surgery, since 1986, at the Universities of Sassari, Pavia, and Insubria; - Courses of General Biology in the Course for the degree in Dentistry, since 2001, at the University of Insubria; - Courses of Medical Genetics in the Course for the degree in Medicine and Surgery, since 1989, at the Universities of Pavia, and Insubria; - Courses of Human and Medical Genetics in many different Postgraduate Schools of Specialization (such as General Medicine, Haematology, Pediatrics, Obstetrics, Pediatric Neuropsychiatry, Psychiatry, etc.), and in Masters Courses, since 1986, at the Universities of Sassari, Pavia, and Insubria, and in several other institutions. Head of the Postgraduate School of Specialization in Medical Genetics, 1998-2004. Chairman of the Council for the degree in Medicine and Surgery, since 2001. Vice-dean of the Medical Faculty, since 2002. Head of the Department of Experimental and Clinical Biomedical Sciences, since 2004. Coordinator of the Council of the Heads of Departments, since 2004. |
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Representative publications |
1 – Maserati E, Pasquali
F, Zuffardi O, Buttitta P, Cuoco C, Defant G, Gimelli G, Fraccaro
M: Roberts syndrome: phenotypic variation, cytogenetic definition
and heterozygote detection. Ann. Génét. 34:239–246,
1991. 2 – Lanzi G, Balottin U, Franciotta D, Maserati E, Ottolini A, Pasquali F, Veggiotti P: Clinical, Cytogenetic and Immunological Aspects in 4 Cases Resembling Ataxia Telangiectasia. Eur Neurol 32:121–125, 1992. 3 – Maserati E, Casali M, Fogu G, Sanna R, Invernizzi R, Latte G, Simi P, Gabbas A, Ascari E, Pasquali F : Graft-Versus-Leukemia Effects After Allogeneic Bone Marrow Transplantation Are Active Also in the Presence of Clones with Chromosomal Anomalies in Addition to the Ph Chromosome. Cancer Genet Cytogenet 61:152–157, 1992. 4 – Casali M., Truglio F., Milone G., Di Raimondo F., Parrinello G., Maserati E., Pasquali F. : Trisomy 8 In Philadelphia Chromosome (Ph1)- Negative Cells in the Course of Ph1-Positive Chronic Myelocytic Leukemia. Genes Chromosom Cancer 4:269–270, 1992. 5 – Seghezzi L, Maserati E, Minelli A, Dellavecchia C, Addis P, Locatelli F, Angioni A, Balloni P, Miano C, Cavalli P, Danesino C, Pasquali F: Constitutional Trisomy 8 as First Mutation in Multistep Carcinogenesis: Clinical, Cytogenetic, and Molecular Data on Three Cases. Genes Chromosom Cancer 17:94–101, 1996. 6 – Seghezzi L, Dellavecchia C, Maserati E, Minelli A, Carra’ A, Locatelli F, Argusti A, Lo Curto F, Danesino C, Pasquali F: Ph-Positive CML in Blastic Phase with Monosomy 7 in a Down Syndrome Patient. Cancer Genetic Cytogenet 99:77-80, 1997. 7 – Sainati L, Leszl A, Putti MC, Pasquali F, Maserati E, Donti E, Venti G, Simi P, Giuliani C, Angioni A, Stella M, Montaldi A, Sessarego M, Zanesco L, Biondi A, Basso G: Centralized Cytogenetic Analysis of Pediatric Acute Leukemia: Results of an Italian Collaborative Experience. Haematologica 82:654–659, 1997. 8 – Maserati E, Seghezzi L, Pasquali F, Locatelli F, Viero P, Cavanna L: Parental Origin of Chromosomes 9 and 22 Involved in the Ph Chromosome Translocation in Chronic Myelocytic Leukemia. Cancer Genet Cytogenet 107:151–152, 1998. 9 – Scappaticci S, Pasquali F, Capra E, Olivieri C, Tateo S: Chromosome Instability in Cultured Lymphocytes of Patients with Ovarian or Uterine Cancer. Cancer Genet Cytogenet 110:140–142, 1999. 10 – Panarello C, Morerio C, Russo I, Pasquali F, Rapella A, Corrias MV, Morando A, Rosanda C: Full cytogenetic characterization of a new neuroblastoma cell line with a complex 17q translocation. Cancer Genet Cytogenet 116:124-132, 2000. 11 – Maserati E, Minelli A, Olivieri C, Bonvini L, Marchi A, Bozzola M, Danesino C, Scappaticci S, Pasquali F: Isochromosome i(7q) in Shwachman Syndrome without MDS/AML and role of chromosome 7 anomalies in myeloproliferative disorders. Cancer Genet Cytogenet 121:167-171, 2000. 12 – Minelli A, Maserati E, Giudici G, Tosi S, Olivieri C, Bonvini L, De Filippi P, Biondi A, Lo Curto F, Pasquali F, Danesino C: Familial partial monosomy 7 and myelodysplasia: different paternal origin of the monosomy 7 suggests action of a mutator gene. Cancer Genet Cytogenet 124:147-151, 2001. 13 – Minelli A, Morerio C, Maserati E, Olivieri C, Panarello C, Bonvini L, Leszl A, Rosanda C, Lanino E, Danesino C, Pasquali F: Meiotic origin of trisomy in neoplasm: evidence in a case of erythroleukaemia. Leukemia 15:971-975, 2001. 14 – Morerio C, Russo I, Rapella A, Leszl A, Basso G, Maserati E, Pasquali F, Panarello C: 17q21-qter trisomy is an indicator of poor prognosis in acute myelogenous leukaemia. Cancer Genet Cytogenet 124:12-15, 2001. 15 – De Simone A, Cantu' Rainoldi A, Sainati L, D'Avanzo M, Allen M, Maserati E, Pasquali F, Aricò M: Spontaneous remission from RAEB in a child. Leukemia 15:856-857, 2001. 16 – Maserati E, Aprili F, Vinante F, Locatelli F, Amendola G, Zatterale A, Milone G, Minelli A, Bernardi F, Lo Curto F, Pasquali F: Trisomy 8 in myelodysplasia and acute leukemia is constitutional in 15-20% of cases. Genes Chromosom Cancer 33:93-97, 2002. 17 – Pasquali F, Maserati E: Minimal residual disease and trisomy 8. Cancer Genet Cytogenet 140:176, 2003. 18 – Maserati E, Minelli A, Menna G, Cecchini MP, Bernardo ME, Rossi G, De Filippi P, Lo Curto F, Danesino C, Locatelli F, Pasquali F: Familial myelodysplastic syndromes, monosomy 7/trisomy 8, and mutator effects. Cancer Genet Cytogenet 148:155-158, 2004. 19 – Morerio C, Acquila M, Rosanda C, Rapella A, Dufour C, Locatelli F, Maserati E, Pasquali F, Panarello C: HCMOGT-1 is a novel fusion partner to PDGFRB in juvenile myelomonocytic leukemia with t(5;17)(q33;p11.2). Cancer Res 64:2649-2651, 2004. 20 – Minelli A, Maserati E, Rossi G, Bernardo ME, De Stefano P, Cecchini MP, Valli R, Albano V, Pierani P, Leszl A, Sainati L, Lo Curto F, Danesino C, Locatelli F, Pasquali F: Familial platelet disorder with propensity to acute myelogenous leukemia: genetic heterogeneity and progression to leukemia via acquisition of clonal chromosome anomalies. Genes Chromosom Cancer 40:165-171, 2004. 21 – Morerio C, Rapella A, Rosanda C, Lanino E, Lo Nigro L, Di Cataldo A, Maserati E, Pasquali F, Panarello C: MLL-MLLT10 fusion in acute monoblastic leukemia: variant complex rearrangements and 11q proximal breakpoint heterogeneity. Cancer Genet Cytogenet 152:108-112, 2004. 22 – Frascella E, Zampieron C, Sainati L, Casula L, Pasquali F, Mura R, Maserati E, Pigazzi M, Spinelli M, Disarò S, Biddau PF, Basso G: AML1-MTG16 gene rearrangement in a pediatric therapy related AML after Ewing sarcoma: a case discussion and review of literature. Cancer Therapy 3:285-292, 2005. 23 – Mattarucchi E, Marsoni M, Binelli G, Passi A, Lo Curto F, Pasquali F, Porta G: Different real time PCR approaches for the fine quantification of SNP’s alleles in DNA pools: assays development, characterization and pre-validation. J Biochem Mol Biol 38:555-562, 2005. 24 – Maserati E, Minelli A, Pressato B, Valli R, Crescenzi B, Stefanelli M, Menna G, Sainati L, Poli F, Panarello C, Zecca M, Lo Curto F, Mecucci C, Danesino C, Pasquali F: Shwachman sindrome as mutator phenotype responsible for myeloid displasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies. Genes Chromosom Cancer, in press |
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Clinical interests |
Genetic pathology: Mendelian and multifactorial diseases; diseases due to chromosome anomalies. Haemato-oncological diseases, in particolar myelodysplasia and myeloproliferative disorders. Genetic conditions with risk of dysplasia/neoplasia.
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