Emanuela Maserati - The University of Insubria

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Prof. Emanuela Maserati – Curriculum Vitae
Emanuela Maserati
Contact data
Biography
Qualifications and
awards
Research interests
Associate Professor
Dipartimento di Medicina Clinica e Sperimentale
Via J. Dunant 5, 21100 Varese
Tel: +39 0332 217181
Fax: +39 0332 217119
E-mail: emanuela.maserati@uninsubria.it
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 is Associate Professor since
1/10/2002 in the School of Medicine at the University of Insubria.
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.
The principal research interests, in the field of Medical Genetics, are the following:
• studies on mendelian diseases in man
• studies on karyotype/phenotype correlation in constitutional chromosome
anomalies
• bone marrow transplantation and the cytogenetic monitoring
• chronic myelocytic leukaemia
• myelodysplasia and acute myeloid leukaemia
• 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
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Prof. Emanuela Maserati – Curriculum Vitae
preferentially involved in myeloproliferative disorders and to investigate on
the related mechanisms 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), Shwachman-Diamond
syndrome, familial AML/MDS, congenital neutropenia, Rothmund-Thomson
syndrome, Noonan syndrome.
• aplasia/hypoplasia in bone marrow and peripheral cytopenias
Teaching
experience and
appointments
• 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
• Course of Biology in the School of Dentistry since 2006
• Course of Medical genetics in the Course for the Degree in Obstetrics since
2012
• She is member of the PhD council in Biotecnology since 2008
• She is member of the Commisione dell’Orientamento since 2008
• She is member of Presidio Qualità of the University since 2013
Representative
publications
1. Maserati E., Campagnoli E., Truglio F., Porta F., Nespoli L., Burgio G.R.,
Pasquali F.: Cytogenetics in autologous bone marrow transplantation.
Cancer Genet Cytogenet 45:137-138, 1990.
2. Bergamaschi G, Stella CC, Cattoretti G, Invernizzi R, Maserati E, Nalli
G,Pedrazzoli P, Peverali FA, Della Valle G, Ascari E, Cazzola M:.
Establishment and characterization of a B-cell line derived from a patient
with a myelodysplastic syndrome which expresses myelomonocytic and
lymphoid markers.. Br J Haematol 78:167-172, 1991.
3. 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.
4. 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.
5. 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
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Prof. Emanuela Maserati – Curriculum Vitae
children with myelodysplastic syndromes. Leukemia 5:844-849, 1994.
6. 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.
7. 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.
8. 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.
9. 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.
10. 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.
11. 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.
12. 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.
13. 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.
14. 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.
15. 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.
16. 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.
17. 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 ,
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Prof. Emanuela Maserati – Curriculum Vitae
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.
18. 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 Chromosomes Cancer 45:375-382, 2006.
19. Maserati E, Panarello C, Morerio C, Valli R, Pressato B, Patitucci F,
Tassano E, Di Cesare-Merlone A, Cugno C, Balduini C L, Lo Curto F,
Dufour C, Locatelli F, Pasquali F: Clonal chromosome anomalies and
propensity to myeloid malignancies in Congenital Amegakaryocytic
Thrombocytopenia (OMIM # 604498). Haematologica ,93:1271-1273, 2008.
20. Minelli A, Maserati E, Nicolis E, Zecca M, Sainati L, Longoni D, Lo Curto F,
Menna G, Poli F, De Paoli E, Cipolli M, Locatelli F, Pasquali F, Danesino C:
The isochromosome i(7)(q10) carrying c.258+2t>c mutation of the SBDS
gene does not promote development of myeloid malignancies in patients
with Shwachman sindrome. Leukemia, 23: 708-11, 2009.
21. Maserati E, Pressato B, Valli R, Minelli A, Sainati L, Patitucci F, Marletta C,
Mastronuzzi A, Poli F, Lo Curto F, Locatelli F, Danesino C, Pasquali F: The
route to development of myelodysplastic syndrome/acute myeloid
leukaemia in Shwachman-Diamond syndrome: the role of ageing, karyotype
instability, and acquired chromosome anomalies. Br J Haematol, 145:190-
197, 2009.
22. Pressato B, Marletta C, Montalbano G, Valli R, Macerati E: Improving the
definition of the structure of the isochromosome i(7)(q10) in Shwachman-
Diamond Syndrome. Br J Haematol, 150:632-633, 2010.
23. Valli R, Maserati E, Marletta C, PressatoB, Lo Curto F, Pasquali F:
Evaluating chromosomal mosaicism by array-based CGH in relation to
clinical issues: the proposal of a formula. Cancer Genetics, 204:216-218,
2011.
24. Valli R, Marletta C, Pressato B, Montalbano G, Lo Curto F, Pasquali F,
Maserati E: Comparative genomic hybridization on microarray (a-CGH) in
constitutional and acquired mosaicism may detect as low as 8% abnormal
cells. Mol Cytogenet, 4:13-2011
25. Bonaglia MC, Giorda R, Beri S, De Agostini C, Novara F, Fichera M, Grillo
L, Galesi O, Vetro A, Ciccone R, Bonati MT, Giglio S, Guerrini R, Osimani
S, Marelli S, Zucca C, Grasso R, Borgatti R, Mani E, Motta C, Molteni M,
Romano C, Greco D, Reitano S, Barboncini A, Lapi E, Lecconi A, Arrigo G,
Patricelli MG, Pantaleoni C, D'Arrigo S, Riva D, Sciacca F, Dalla Bernardina
B, Zoccante L, Darra F, Termine C, Maserati E, Bigoni S, Priolo E, Bottani
A, Gimelli S, Bena F, Brusco A, di Gregorio E, Bagnasco I, Giussani U,
Nitsch L, Politi P, Martinez-Frias ML, Martínez-Fernández ML, Martínez
Guardia G, Bremer A, Anderlid B-M, Zuffardi O: Molecular Mechanisms
Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with
Phelan/McDermid Syndrome. PloS Genet, 7(7): e1002173. doi:
10:1371/journal.pgen.1002173, 2011.
26. Pressato B, Valli R, Marletta C, Mare L, Montalbano G, Lo Curto F, Pasquali
F, Maserati E: Deletion of chromosome 20 in bone marrow of patients with
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Prof. Emanuela Maserati – Curriculum Vitae
Shwachman-Diamond syndrome, loss of the EIF6 gene and benign
prognosis. Br J Haematol. 2012 doi: 10.1111/j.1365-2141.2012.09033.x.
27. Pangrazio A, Frattini A, Valli R, Maserati E, Susani L, VezzoniP, Villa A, Al-
Herz W, Sobacchi C: A homozygous contiguous gene deletion in
chromosome 16p13.3 leads to autosomal recessive osteopetrosis in a
Jordanian patient. Calcified Tissue Intermational 2012 doi: 10.1007/s00223-
012-9631-4.
28. Noris P, Valli R, Pecci A, Marletta C, Invernizzi R, Mare L, Balduini CL,
Maserati E.: Clonal chromosome anomalies affecting Fli1 mimic inherited
thrombocytopenia of the Paris-Trousseau type. Eur J Haematol 2012 Jul 7.
doi: 10.1111/j.1600-0609.2012.01833.x.
29. Marletta C, Valli R, Pressato B, Mare L, Montalbano G, Menna G, Loffredo
G, Bernardo ME, Vinti L, Ferrari S, Di Cesare-Merlone A, Zecca M, Lo Curto
F, Locatelli F, Pasquali F, Maserati E: Chromosome anomalies in bone
marrow as primary cause of aplastic or hypoplastic conditions and
peripheral cytopenia: disorders due to secondary impairment of RUNX1 and
MPL genes. Molecular Cytogenetics, 2012 Oct 5. doi: 10.1186/1755-8166-
5-39.
30. Andre´V, Longoni D, Bresolin S, Cappuzzello C, Dander E, Galbiati M,
Bugarin C, Di Meglio A, Nicolis E, Maserati E, Serafini M, Warren AJ, te
Kronnie G, Cazzaniga G, Sainati L, Cipolli M, Biondi A, D’Amico G:
Mesenchymal stem cells from Shwachman-Diamond syndrome patients
display normal functions and do not contribute to hematological defects.
Blood Cancer Journal. 2012 doi:10.1038/bcj.2012.40
All publications are in English.
Clinical interests
Cytogenetic and molecular cytogenetics in the diagnostic procedures in
haematological malignancies, and relation to diagnosis, prognosis and therapeutic
approaches.
Diagnostic and prognostic features of constitutional chromosome anomalies.
Microarray-based comparative genomic hybridization (a-CGH) for the clinical
practice, in particular in haematological malignancies and in predisposing disorders.
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