L Fugazzola

Summary

Affiliation: Ospedale Maggiore
Country: Italy

Publications

  1. ncbi request reprint Expanding use of recombinant hTSH
    L Fugazzola
    Endocrine Unit and Department of Medical Sciences, Fondazione Policlinico IRCCS and University of Milan, Italy
    Ann Endocrinol (Paris) 68:220-3. 2007
  2. doi request reprint Microchimerism and endocrine disorders
    Laura Fugazzola
    Department of Medical Sciences, University of Milan, Endocrine Unit Padiglione Granelli, Istituto di Ricovero e Cura a Carattere Scientifico Ca Granda, Via Francesco Sforza, 35, 20122 Milan, Italy
    J Clin Endocrinol Metab 97:1452-61. 2012
  3. ncbi request reprint Thyroid scintigraphy and perchlorate test after recombinant human TSH: a new tool for the differential diagnosis of congenital hypothyroidism during infancy
    Laura Fugazzola
    Department of Medical Sciences, University of Milan and Fondazione Policlinico IRCCS, Via F Sforza, 35 20122, Milan, Italy
    Eur J Nucl Med Mol Imaging 34:1498-503. 2007
  4. doi request reprint Fetal microchimerism as an explanation of disease
    Laura Fugazzola
    Endocrine Unit, Fondazione IRCCS Ca Granda, Universita degli Studi di Milano, Via Francesco Sforza 35, 20122 Milan, Italy
    Nat Rev Endocrinol 7:89-97. 2011
  5. ncbi request reprint High phenotypic intrafamilial variability in patients with Pendred syndrome and a novel duplication in the SLC26A4 gene: clinical characterization and functional studies of the mutated SLC26A4 protein
    Laura Fugazzola
    Department of Medical Sciences, University of Milan, Milan, Italy
    Eur J Endocrinol 157:331-8. 2007
  6. ncbi request reprint Correlation between B-RAFV600E mutation and clinico-pathologic parameters in papillary thyroid carcinoma: data from a multicentric Italian study and review of the literature
    L Fugazzola
    Institute of Endocrine Sciences, University of Milan and Fondazione Policlinico IRCCS, Milan, Italy
    Endocr Relat Cancer 13:455-64. 2006
  7. doi request reprint Fetal cell microchimerism in human cancers
    Laura Fugazzola
    Department of Medical Sciences, University of Milan and Endocrine Unit, Fondazione Policlinico IRCCS, Milan, Italy
    Cancer Lett 287:136-41. 2010
  8. doi request reprint RET genotypes in sporadic medullary thyroid cancer: studies in a large Italian series
    Laura Fugazzola
    Department of Medical Sciences, University of Milan, Milan, Italy
    Clin Endocrinol (Oxf) 69:418-25. 2008
  9. doi request reprint DUOXS defects: Genotype-phenotype correlations
    L Fugazzola
    Endocrine Unit, IRCCS Ca Granda, 35, Via F Sforza, 20122 Milan, Italy
    Ann Endocrinol (Paris) 72:82-6. 2011
  10. ncbi request reprint Monoallelic expression of mutant thyroid peroxidase allele causing total iodide organification defect
    L Fugazzola
    Institute of Endocrine Sciences, School of Medicine, University of Milan, Milan, Italy
    J Clin Endocrinol Metab 88:3264-71. 2003

Collaborators

Detail Information

Publications43

  1. ncbi request reprint Expanding use of recombinant hTSH
    L Fugazzola
    Endocrine Unit and Department of Medical Sciences, Fondazione Policlinico IRCCS and University of Milan, Italy
    Ann Endocrinol (Paris) 68:220-3. 2007
    ....
  2. doi request reprint Microchimerism and endocrine disorders
    Laura Fugazzola
    Department of Medical Sciences, University of Milan, Endocrine Unit Padiglione Granelli, Istituto di Ricovero e Cura a Carattere Scientifico Ca Granda, Via Francesco Sforza, 35, 20122 Milan, Italy
    J Clin Endocrinol Metab 97:1452-61. 2012
    ..Microchimeric cells can persist in blood and tissues for decades...
  3. ncbi request reprint Thyroid scintigraphy and perchlorate test after recombinant human TSH: a new tool for the differential diagnosis of congenital hypothyroidism during infancy
    Laura Fugazzola
    Department of Medical Sciences, University of Milan and Fondazione Policlinico IRCCS, Via F Sforza, 35 20122, Milan, Italy
    Eur J Nucl Med Mol Imaging 34:1498-503. 2007
    ..The aim of this study was to verify the efficacy and safety of new protocols for rhTSH (Thyrogen) testing during L-thyroxine replacement in the differential diagnosis of CH...
  4. doi request reprint Fetal microchimerism as an explanation of disease
    Laura Fugazzola
    Endocrine Unit, Fondazione IRCCS Ca Granda, Universita degli Studi di Milano, Via Francesco Sforza 35, 20122 Milan, Italy
    Nat Rev Endocrinol 7:89-97. 2011
    ..Moreover, the mechanisms by which fetal cell microchimerism is believed to modulate the protection against cancer or tumor progression will be discussed, together with future research directions...
  5. ncbi request reprint High phenotypic intrafamilial variability in patients with Pendred syndrome and a novel duplication in the SLC26A4 gene: clinical characterization and functional studies of the mutated SLC26A4 protein
    Laura Fugazzola
    Department of Medical Sciences, University of Milan, Milan, Italy
    Eur J Endocrinol 157:331-8. 2007
    ..It is caused by mutations in the SLC26A4 gene. The encoded transmembrane protein, called pendrin, has been found to be able to transport chloride and other anions...
  6. ncbi request reprint Correlation between B-RAFV600E mutation and clinico-pathologic parameters in papillary thyroid carcinoma: data from a multicentric Italian study and review of the literature
    L Fugazzola
    Institute of Endocrine Sciences, University of Milan and Fondazione Policlinico IRCCS, Milan, Italy
    Endocr Relat Cancer 13:455-64. 2006
    ..Finally, no correlation was found with a poorer prognosis and a worse outcome after a median follow-up of 72 months...
  7. doi request reprint Fetal cell microchimerism in human cancers
    Laura Fugazzola
    Department of Medical Sciences, University of Milan and Endocrine Unit, Fondazione Policlinico IRCCS, Milan, Italy
    Cancer Lett 287:136-41. 2010
    ..In this review, the possible role and the consequences of fetal cell microchimerism, as emerged from studies in animal models and in women with different types of cancer, will be presented...
  8. doi request reprint RET genotypes in sporadic medullary thyroid cancer: studies in a large Italian series
    Laura Fugazzola
    Department of Medical Sciences, University of Milan, Milan, Italy
    Clin Endocrinol (Oxf) 69:418-25. 2008
    ..Highly discrepant data about the different distribution of RET germline single nucleotide polymorphisms (SNPs) among patients with sporadic medullary thyroid cancer (sMTC) and controls are available...
  9. doi request reprint DUOXS defects: Genotype-phenotype correlations
    L Fugazzola
    Endocrine Unit, IRCCS Ca Granda, 35, Via F Sforza, 20122 Milan, Italy
    Ann Endocrinol (Paris) 72:82-6. 2011
    ..In the present paper, the genetic and clinical features of CH caused by defects in the peroxide generator system will be revised...
  10. ncbi request reprint Monoallelic expression of mutant thyroid peroxidase allele causing total iodide organification defect
    L Fugazzola
    Institute of Endocrine Sciences, School of Medicine, University of Milan, Milan, Italy
    J Clin Endocrinol Metab 88:3264-71. 2003
    ..In summary, we report one family with TIOD due to monoallelic expression of a mutant TPO allele in the thyroid. This mechanism might be generally involved in TIOD cases with a single TPO-mutated allele...
  11. ncbi request reprint Genetic analyses and evaluation of peripheral parameters of thyroid hormone action for the differential diagnosis of RTH. A novel heterozygous missense mutation (M334T) discovered
    D Mannavola
    Institute of Endocrine Sciences, University of Milan, Ospedale Maggiore IRCCS, Italy
    J Endocrinol Invest 25:RC4-6. 2002
    ..The association of different phenotypes with substitutions affecting the same codon is another contribution confirming that RTH phenotype does not generally depend upon the site of the mutation in the LBD of TRbeta1...
  12. ncbi request reprint Comparison of the breakpoint regions of ELE1 and RET genes involved in the generation of RET/PTC3 oncogene in sporadic and in radiation-associated papillary thyroid carcinomas
    I Bongarzone
    Division of Experimental Oncology A, Istituto Nazionale Tumori, Milan, Italy
    Genomics 42:252-9. 1997
    ..In addition, we observed an interesting distribution of the post-Chernobyl breakpoints in ELE1-bcr located within an Alu element, or in between two close Alu elements, and always in A+T-rich regions...
  13. ncbi request reprint Multigenerational familial medullary thyroid cancer (FMTC): evidence for FMTC phenocopies and association with papillary thyroid cancer
    L Fugazzola
    Istituto Clinico Humanitas and Ospedale Maggiore IRCCS, Milan, Italy
    Clin Endocrinol (Oxf) 56:53-63. 2002
    ..Germline mutations or rearrangements of the RET proto-oncogene are the genetic background of the majority of hereditary MTCs and of about 25-40% of PTCs...
  14. ncbi request reprint Medullary and papillary carcinoma of the thyroid gland occurring as a collision tumour: report of three cases with molecular analysis and review of the literature
    S Rossi
    Pathology Unit, Department of Medicine, Surgery and Dentistry, Ospedale S Paolo and Ospedale Maggiore IRCCS, University of Milan School of Medicine, Milan, Italy
    Endocr Relat Cancer 12:281-9. 2005
    ..This is the first report in which two mutations, in the RET and BRAF genes, have been identified in three cases of MTC/PTC collision tumour, thus documenting the different genetic origin of these two coexisting carcinomas...
  15. doi request reprint Absence of primary hypothyroidism and goiter in Slc26a4 (-/-) mice fed on a low iodine diet
    D Calebiro
    Department of Medical Sciences, University of Milan, Milan, Italy
    J Endocrinol Invest 34:593-8. 2011
    ..Since pendrin can transport iodide in vitro, variations in iodide supply have been claimed to account for the thyroid phenotype associated with pendrin defects...
  16. ncbi request reprint The role of pendrin in iodide regulation
    L Fugazzola
    Istituto Clinico Humanitas, Milan, Italy
    Exp Clin Endocrinol Diabetes 109:18-22. 2001
    ....
  17. ncbi request reprint The widened use of exogenous stimulation with recombinant human TSH to treat metastatic thyroid carcinoma in Italy
    L Maffioli
    Operative Unit of Nuclear Medicine, A O Civile di Legnano, Legnano, Milan, Italy
    Q J Nucl Med Mol Imaging 56:476-84. 2012
    ....
  18. doi request reprint Four novel RET germline variants in exons 8 and 11 display an oncogenic potential in vitro
    Marina Muzza
    Dipartimento di Scienze Mediche, Universita degli Studi di Milano, 20122 Milan, Italy
    Eur J Endocrinol 162:771-7. 2010
    ..A510V, p.E511K and p.C531R) coded by exon 8 and in the intracellular juxtamembrane region (p.K666N) coded by exon 11, were identified on the leukocyte DNA from apparently sporadic cases...
  19. ncbi request reprint Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies
    Laura Fugazzola
    Institute of Endocrine Sciences, University of Milan, Italy
    Pediatr Res 51:479-84. 2002
    ..The pseudo-Pendred phenotype exhibited by the family without PDS mutations is likely caused by an autoimmune thyroid disease associated with a sensorineural hearing loss of different origin...
  20. ncbi request reprint An in-frame complex germline mutation in the juxtamembrane intracellular domain causing RET activation in familial medullary thyroid carcinoma
    Daniela Cordella
    Istituto Auxologico Italiano, 20095 Cusano, Milan, Italy
    Endocr Relat Cancer 13:945-53. 2006
    ..Functional analyses showed that alterations at this level too can lead to a ligand independent Ret activation...
  21. doi request reprint Fetal cell microchimerism in papillary thyroid cancer: studies in peripheral blood and tissues
    Valentina Cirello
    Department of Medical Sciences, University of Milan and Endocrine Unit, Fondazione Policlinico IRCCS, Via F Sforza 35, Milan, Italy
    Int J Cancer 126:2874-8. 2010
    ....
  22. ncbi request reprint Recombinant human TSH testing is a valuable tool for differential diagnosis of congenital hypothyroidism during L-thyroxine replacement
    Laura Fugazzola
    Institute of Endocrine Sciences, University of Milan, Ospedale Maggiore IRCCS, Italy
    Clin Endocrinol (Oxf) 59:230-6. 2003
    ..Therefore, L-T4 therapy is presently withdrawn in most instances and investigations are performed in a disturbing hypothyroid state...
  23. ncbi request reprint Molecular and biochemical analysis of RET/PTC4, a novel oncogenic rearrangement between RET and ELE1 genes, in a post-Chernobyl papillary thyroid cancer
    L Fugazzola
    Division of Experimental Onocology A, Istituto Nazionale Tumori, Milan, Italy
    Oncogene 13:1093-7. 1996
    ..Alternatively, targeted radiation effects could be responsible for the atypical RET rearrangement producing RET/PTC4 oncogene...
  24. ncbi request reprint Total iodide organification defect: clinical and molecular characterization of an Italian family
    Laura Fugazzola
    Institute of Endocrine Sciences, University of Milan, Milan, Italy
    Thyroid 15:1085-8. 2005
    ..Therefore, extensive analyses of TPO gene and 2p25 locus are needed in the frequent TIOD cases in whom conventional investigations disclosed only one mutant allele...
  25. ncbi request reprint BRAF mutations in an Italian cohort of thyroid cancers
    Laura Fugazzola
    Institute of Endocrine Sciences, University of Milan, Milan, Italy
    Clin Endocrinol (Oxf) 61:239-43. 2004
    ....
  26. ncbi request reprint Functional characterization of wild-type and a mutated form of SLC26A4 identified in a patient with Pendred syndrome
    Silvia Dossena
    Department of Biomolecular Sciences and Biotechnology, Universita degli Studi di Milano, Italy
    Cell Physiol Biochem 17:245-56. 2006
    ..It is assumed that SLC26A4 acts as a chloride/anion exchanger responsible for the iodide organification in the thyroid gland, and conditioning of the endolymphatic fluid in the inner ear...
  27. ncbi request reprint The clinical and molecular characterization of patients with dyshormonogenic congenital hypothyroidism reveals specific diagnostic clues for DUOX2 defects
    M Muzza
    Department of Clinical Sciences and Community Health M M, V C, M A M, P B P, L F, University of Milan, and Endocrine Unit, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico, Ca Granda, 20122 Milan, Italy Department of Pediatrics S R, M C V, I Z, K M, G W, San Raffaele Scientific Institute, Vita Salute San Raffaele University, 21032 Milan, Italy Department of Clinical Sciences and Community Health L P, University of Milan, Milan, and Laboratory of Endocrine and Metabolic Research, Istituto Auxologico Italiano, 20149 Milan, Italy Department of Pediatrics L B, A Manzoni Hospital, 73100 Lecco, Italy Metabolic Research Laboratories N S, Wellcome Trust Medical Research Council Institute of Metabolic Science, University of Cambridge, Cambridge CB2 0QQ, United Kingdom Department of Pediatrics F G, Perrino Hospital, 72100 Brindisi, Italy and Department of Clinical Genetics S M P,
    J Clin Endocrinol Metab 99:E544-53. 2014
    ..Mutations in the DUOX2 gene have been associated with transient or permanent congenital hypothyroidism due to a dyshormonogenic defect...
  28. doi request reprint Increased risk for non-autoimmune hypothyroidism in young patients with congenital heart defects
    E Passeri
    Endocrinology and Diabetology Unit, Dipartimento di Scienze Medico Chirurgiche, Universita degli Studi di Milano, Istituto Di Ricovero e Cura a Carattere Scientifico Policlinico San Donato, 20097 San Donato Milanese, Italy
    J Clin Endocrinol Metab 96:E1115-9. 2011
    ..Newborns with congenital hypothyroidism (CH) have an increased risk for congenital heart defects (CHD) due to a common embryonic developmental program between thyroid gland and heart and great vessels...
  29. ncbi request reprint TBG deficiency: description of two novel mutations associated with complete TBG deficiency and review of the literature
    Deborah Mannavola
    Institute of Endocrine Sciences, University of Milan, Pad Granelli Via F Sforza, 35, Milan, 20122, Italy
    J Mol Med (Berl) 84:864-71. 2006
    ..The first mutation lies at the 5' donor splice site of exon 0 and probably alters the start of translation, while the second is a single nucleotide deletion and leads to a premature stop codon...
  30. ncbi request reprint Different responses to chronic somatostatin analogues in patients with central hyperthyroidism
    Deborah Mannavola
    Institute of Endocrine Sciences, University of Milan, Ospedale Maggiore IRCCS and Istituto Auxologico Italiano IRCCS, Milan, Italy
    Clin Endocrinol (Oxf) 62:176-81. 2005
    ..Aim of the present study was to investigate the use of somatostatin analogues in the differential diagnosis between TSH-omas and PRTH, as well as the possible treatment of PRTH with these analogues...
  31. ncbi request reprint A novel tyrosine-kinase selective inhibitor, sunitinib, induces transient hypothyroidism by blocking iodine uptake
    Deborah Mannavola
    Department of Medical Sciences, University of Milan and Endocrine Unit, Fondazione Policlinico Istituto di Ricovero e Cura a Carattere Scientifico, 20122 Milan, Italy
    J Clin Endocrinol Metab 92:3531-4. 2007
    ..New York, NY) is a multitarget inhibitor of tyrosine kinases for the treatment of some human cancers. A myxedematous coma in a patient treated with sunitinib for a gastrointestinal stromal tumor was unexpectedly observed...
  32. ncbi request reprint The expression of wild-type pendrin (SLC26A4) in human embryonic kidney (HEK 293 Phoenix) cells leads to the activation of cationic currents
    Silvia Dossena
    Department of Biomolecular Sciences and Biotechnology, Universita degli Studi di Milano, Via Celoria 26, I 20133 Milan, Italy
    Eur J Endocrinol 153:693-9. 2005
    ..An open question is still whether the SLC26A4-induced ion exchange mechanism is electrogenic or electroneutral. Recently, it has been shown that human pendrin expressed in monkey cells leads to chloride currents...
  33. ncbi request reprint Frequent association between MEN 2A and cutaneous lichen amyloidosis
    Uberta Verga
    University of Milan, Ospedale Maggiore IRCCS, Italy
    Clin Endocrinol (Oxf) 59:156-61. 2003
    ..The presence of cutaneous lichen amyloidosis (CLA) has been anecdotally described in few families harbouring RET proto-oncogene mutation in codon 634. The aim of the study was to evaluate the incidence of CLA in MEN 2A/FMTC families...
  34. ncbi request reprint Highly sensitive serum thyroglobulin and circulating thyroglobulin mRNA evaluations in the management of patients with differentiated thyroid cancer in apparent remission
    Laura Fugazzola
    Institute of Endocrine Sciences, University of Milan, Ospedale Maggiore Istituto di Ricovero e Cura a Carattere Scientifico IRCCS, Via Franceses Sforza 35, Milan 20122, Italy
    J Clin Endocrinol Metab 87:3201-8. 2002
    ..In particular, a negative hs-basal Tg testing would indicate disease remission and the opportunity to lengthen the intervals between rhTSH stimulations and/or to shift patients to a less profound TSH suppression with L-T(4)...
  35. doi request reprint The tight relationship between papillary thyroid cancer, autoimmunity and inflammation: clinical and molecular studies
    Marina Muzza
    Department of Medical Sciences, University of Milan and Endocrine Unit, Fondazione Policlinico IRCCS, Milan
    Clin Endocrinol (Oxf) 72:702-8. 2010
    ....
  36. ncbi request reprint Radioiodine treatment of non-toxic multinodular goitre: effects of combination with lithium
    Guia Vannucchi
    Institute of Endocrine Sciences, Ospedale Maggiore IRCCS Pad Granelli, Via F Sforza, 35, 20122 Milan, Italy
    Eur J Nucl Med Mol Imaging 32:1081-8. 2005
    ..This is the first clinical trial including only patients with multinodular goitre, normal TSH values and negative anti-thyroid auto-antibodies at baseline...
  37. doi request reprint Clinical and molecular features of differentiated thyroid cancer diagnosed during pregnancy
    Guia Vannucchi
    Department of Medical Sciences, University of Milan, Fondazione Policlinico IRCCS, Milan, Italy
    Eur J Endocrinol 162:145-51. 2010
    ..In particular, differentiated thyroid cancer (DTC) represents the second most frequent tumor among those diagnosed during pregnancy. However, few and discordant data are available about the impact of pregnancy on tumor outcome...
  38. ncbi request reprint Outcome predictors and impact of central node dissection and radiometabolic treatments in papillary thyroid cancers < or =2 cm
    Michela Perrino
    Department of Medical Sciences, University of Milan, Milan, Italy
    Endocr Relat Cancer 16:201-10. 2009
    ..The major impact of prophylactic CLND on prognosis suggests to routinely associate it to total thyroidectomy in cases with a preoperative diagnosis of malignancy...
  39. pmc Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism
    Ilaria Zamproni
    Laboratory of Pediatric Endocrinology, San Raffaele Scientific Institute, Vita Salute San Raffaele University, Milan, Italy
    J Clin Endocrinol Metab 93:605-10. 2008
    ..DUOX2 deficiency produces congenital hypothyroidism (CH) in humans and mice. We recently cloned a novel gene, the product of which (dual oxidase maturation factor 2; DUOXA2) is required to express DUOX2 enzymatic activity...
  40. ncbi request reprint Histopathological and molecular studies in patients with goiter and hypercalcitoninemia: reactive or neoplastic C-cell hyperplasia?
    Uberta Verga
    Endocrine Unit, Department of Medical Sciences, University of Milan and Fondazione Policlinico IRCCS, Milan, Italy
    Endocr Relat Cancer 14:393-403. 2007
    ..Thus, sCT levels >50 pg/ml indicate the presence of CCH with a possible preneoplastic potential, suggesting the opportunity to perform a prophylactic surgical treatment...
  41. doi request reprint Fetal cell microchimerism in papillary thyroid cancer: a possible role in tumor damage and tissue repair
    Valentina Cirello
    Department of Medical Sciences and Endocrine Unit, University of Milan, Milan Italy
    Cancer Res 68:8482-8. 2008
    ..Although a pathogenetic mechanism cannot be excluded, the whole of the present results indicates a protective role of microchimerism in thyroid cancer...
  42. ncbi request reprint Fast fluorometric method for measuring pendrin (SLC26A4) Cl-/I- transport activity
    Silvia Dossena
    Department of Biomolecular Sciences and Biotechnology, Universita degli Studi di Milano
    Cell Physiol Biochem 18:67-74. 2006
    ....
  43. pmc Induction of a proinflammatory program in normal human thyrocytes by the RET/PTC1 oncogene
    Maria Grazia Borrello
    Departments of Experimental Oncology, Research Units 3 and 14, and Pathology, Istituto Nazionale Tumori, 20133 Milan, Italy
    Proc Natl Acad Sci U S A 102:14825-30. 2005
    ..These results, demonstrating that the RET/PTC1 oncogene activates a proinflammatory program, provide a direct link between a transforming human oncogene, inflammation, and malignant behavior...