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The University of Insubria
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The University of Insubria CV
The University of Insubria CV
The University of Insubria CV The University of Insubria CV Emanuela Maserati
The University of Insubria CV
 

Contact data

Associate Professor of Human Genetics
Department of Experimental and Clinical Biomedical Sciences
D. S. B. S. C. Via J. Dunant 5 21100 Varese
Tel: +39 0332 217181
Fax: +39 0332 217119
E-mail: emanuela.maserati@uninsubria.it
 

Biography

Born on February 7th, 1956, in Piacenza.
Graduated in Biological Sciences in 1980 at the University of Pavia.
In 1984 was the winner of the “Sirtori-Soccrea” prize for the best scientific work presented to the national congress SISECM-AIGM-AICM, and in the same year she obtained the specialization in Human Cytogenetics (Inst. General Biology and Medical Genetics, University of Pavia).

She attended the “Department of Cell Biology and Genetics" of Erasmus Universiteit, Rotterdam, in 1984.
“Wenner-Gren” Foundation fellow in 1986 at the Department of Clinical Genetics of the Karolinska Hospital, Stockholm.
In September 1990 she achieved the title of Dottore di ricerca (PhD) in human pathology (Inst. General Biology and Medical Genetics, University of Pavia). In February 1990 she won a competition for a position of Ricercatore Universitario in the faculty of Medicine of the University of Sassari, and held this position in 1990-2002, in the University of Insubria since 2000. She has been Associate Professor since 1/10/2002 in the School of Medicine at the University of Insubria.
 

Qualifications and awards

 Member of the Italian Association of Human Cytogenetics, member of the Italian Association of Medical Genetics, member of the Italian Society of Human Genetics. Coordinator of the cytogenetic committee of the A.I.E.O.P. (Associazione italiana ematologia ed oncologia pediatrica), since 1992.
 

Research interests

 The principal research interests, in the field of Medical Genetics, are the following:

- studies on karyotype/phenotype correlation in constitutional chromosome anomalies.

- studies on the chromosome variability in leukaemia, and in particular in dysplasia and myeloproliferative disorders at the onset and after bone marrow transplantation.

- studies to identify the parental origin of gained and lost chromosomes preferentially involved in myeloproliferative disorders and to investigate on the related mechanism of origin.

- studies on families with mendelian diseases associated to myeloproliferative disorder, in particular in families with disorders 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.
 

Teaching experience and appointments

 The teaching experience includes:
-Courses of General Biology, Medical Genetics, and Cytogenetics in Courses for University Diplomas for medical professionals, 1995-1999, at the University of Sassari
- Course of Human Genetics in the Course for the degree in Medicine and Surgery , 1995 – 1999, at the University of Sassari
- Courses of General Biology, Medical Genetics, and Cytogenetics in Courses for degrees in Medicine and Surgery at the University of Insubria, 2000-2005
- Courses of Human and Medical Genetics in many different Postgraduate Schools of Specialization (such as General Medicine, Paediatrics, Obstetrics, Neurology, Pathology, Ophthalmology etc.), since 1995, at the Universities of Sassari, and Insubria.
 

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. 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.

3. 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.

4. Locatelli F., Pession A., Bonetti F., Maserati E., Prete L., Pedrazzoli P., Zecca M., Prete A., Paolucci P., Cazzola M.: Busulfan, cyclophosphamide and melphalan as conditioning regimen for bone marrow transplantation in children with myelodysplastic syndromes. Leukemia 5:844-849, 1994.

5. Casasco A., Maserati E., Giordano M., Casasco M., Ciuffreda M., Sander S., Danova M., Scappaticci S., Calligaro A., Springall D.R., Polak J.M.: Stimulation of DNA synthesis by endothelin-1 in primary cultures of human dental pulp. Archs oral biol 3:245-249, 1994.

6. Seghezzi L., Addis P., Giglio S., Invernizzi R., Maserati E.: Jumping translocations in acute lymphoblastic leukemia. Cancer Genet Cytogenet 80:80-81, 1995.

7. Locatelli F., Zecca M., Pession A., Maserati E., De Stefano P., Severi F.: Myelodysplastic syndromes: the pediatric point of view. Haematologica 80:268-279, 1995.

8. 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 Cancer17:94-101,1996.

9. Vavassori M., Maccario R., Moretta A., Comoli P., Wack A., Locatelli F., Lanzavecchia A., Maserati E., Dellabona P., Casorati G., Montagna D.: Restricted TCR repertoire and long-term persistence of donor-derived antigen-experienced CD4+ T cells in allogeneic bone marrow transplantation recipients. J Immunol 157:5739-5747, 1996.

10. Seghezzi L., Dallavecchia C., Maserati E., Minelli A., Carrà A., Locatelli F., Argusti A., Lo Curto F., Danesino C., Pasquali F.: Ph-positive CML in blastic phase with monosomy 7 in a Down Patient: monitoring by interphase cytogenetics and demonstration of maternal allelic loss. Cancer Genet Cytogenet 99:77-80,1997.

11. Seghezzi L., Maserati E., Locatelli F., Pasquali F.: Leucemia mieloide cronica Ph-Positiva in fase blastica con monosomia 7 in un paziente Down. Istituto Lombardo (Rend. Sc.) B 131:13-21,1997

12. Sainati L., Leszl A., Putti M.C., 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.

13. Maraschio P., Maserati E., Seghezzi L., Tupler R.: Involvement of 9q22.1-31.1 region in pyloric stenosis. Clin Genet 54:159-160,1998.

14. 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 myelocitic leukemia. Cancer Genet Cytogenet 107:151-152,1998.

15. Danesino C., Pasquali F., Dellavecchia C., Maserati E., Minelli A., Seghezzi L.: Constitutional trisomy 8 mosaicism: mechanism of origin, phenotype variability, and risk of malignancies. Am J Med Genet 80:540, 1998.

16. Seghezzi L., Maraschio P., Bozzola M., Maserati E., Tupler R., Marchi A., Tiepolo L.: Ring chromosome 9 with a 9p22.3-p24.3 duplication. Eur. J. Ped. 158:791-793, 1999.

17. Maserati E., Verri A., Seghezzi L., Tupler R., Federico A., Tiepolo L., Maraschio P.: Cerebellar dysgenesis and mental retardation associated with a complex chromosome rearrangement. Ann Génét 42:210-214, 1999.

18. 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

19. 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.

20. 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 neoplasms: evidence in a case of erythroleukaemia. Leukemia 15:971-975, 2001.

21. 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.

22. De Simone A., Cantu’ Rajnoldi 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.

23. 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.

24. Olivieri C, Maraschio P, Caselli D, Martini C, Beluffi G, Maserati E,Danesino C: Interstitial deletion of chromosome 9, int del(9)(9p22.31-q31.2), including the genes causing multiple basal cell nevus syndrome and Robinow/brachydactyly 1 syndrome. Eur J Pediatr 162: 100-3, 2003.

25. Pasquali F, Maserati E: Minimal residual disease and trisomy 8. CancerGenet Cytogenet 140: 176, 2003.

26. 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.

27. 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 leucemia with t(5;17)(q33;p11.2). Cancer Res 64:2649-2651, 2004.

28. 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

29. Morerio C, Rapella A, Rosanda C, Lanino E, Lo Nigro L, Di Cataldo A, Maserati e, Pasquali F, Panarello C: MLL-MLLT 10 fusion in acute monoblastic leucemia: variant complex rearrangements and 11q proximal breakpoint heterogeneity. Cancer Genet Cytogenet 152: 108-112, 2004

30. 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, Meticci C, Danesino C, Pasquali F: Shwachman syndrome as mutator phenotype responsible for myeloid displasia/neoplasia through karyotype instability and chromosome 7 and 20 anomalies. Genes Chromosom Cancer, in press.
 

Clinical interests

Diagnostic procedures of chromosome anomalies in haematological malignancies, and relation to therapeutic approaches.

Diagnostic and prognostic features of constitutional chromosome anomalies.

 
 
   
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