Emanuela Maserati - The University of Insubria

Emanuela Maserati
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

Teaching experience and
appointments
Representative
publications
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.
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.
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 donorderived
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.: Phpositive
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)(9p22.31q31.2),
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.