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  1. Artikel: Gastric leiomyoma and hyperplastic polyposis coli in a patient with multiple cutaneous and uterine leiomyomatosis.

    Serra, David / Amaro, Pedro / Gonçalo, Margarida / Silva, Mário / Ferrando, Barbara / Pasini, Barbara / Figueiredo, Américo

    Journal of cutaneous medicine and surgery

    2012  Band 16, Heft 3, Seite(n) 208–211

    Abstract: Background: Cutaneous leiomyomatosis has been associated with multiple uterine myomas and, more recently, with germline heterozygous mutations of the FH gene and certain types of renal cancer. Despite the growing amount of knowledge concerning this ... ...

    Abstract Background: Cutaneous leiomyomatosis has been associated with multiple uterine myomas and, more recently, with germline heterozygous mutations of the FH gene and certain types of renal cancer. Despite the growing amount of knowledge concerning this genodermatosis, its clinical spectrum remains incompletely characterized.
    Objective: We report the observation of a patient with multiple cutaneous and uterine leiomyomatosis (MCUL) with unusual gastrointestinal manifestations.
    Methods and results: A gastric leiomyoma was diagnosed on a 38-year-old female MCUL patient on endoscopy performed because of mild dyspepsia. Furthermore, routine colonoscopy disclosed hyperplastic polyposis. Genetic testing revealed a previously not reported mutation of the FH gene.
    Conclusion: Gastrointestinal lesions such as the present ones are frequently asymptomatic and probably underdiagnosed. As the phenotypical spectrum associated with mutations of the FH gene keeps expanding, clinicians should keep in mind that, besides renal cancer, other unexpected tumors could also arise in this setting.
    Mesh-Begriff(e) Adenomatous Polyposis Coli/diagnosis ; Adenomatous Polyposis Coli/genetics ; Adenomatous Polyposis Coli/surgery ; Adult ; Codon ; Colonoscopy ; Endoscopy, Gastrointestinal ; Female ; Fumarate Hydratase/genetics ; Humans ; Leiomyoma/diagnosis ; Leiomyoma/genetics ; Leiomyoma/surgery ; Leiomyomatosis/diagnosis ; Leiomyomatosis/genetics ; Leiomyomatosis/surgery ; Mutation ; Stomach Neoplasms/diagnosis ; Stomach Neoplasms/genetics ; Stomach Neoplasms/surgery
    Chemische Substanzen Codon ; Fumarate Hydratase (EC 4.2.1.2)
    Sprache Englisch
    Erscheinungsdatum 2012-05
    Erscheinungsland United States
    Dokumenttyp Case Reports ; Journal Article
    ZDB-ID 1361720-5
    ISSN 1615-7109 ; 1203-4754
    ISSN (online) 1615-7109
    ISSN 1203-4754
    DOI 10.1177/120347541201600315
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  2. Artikel: Multiple gastrointestinal stromal and other tumors caused by platelet-derived growth factor receptor alpha gene mutations: a case associated with a germline V561D defect.

    Pasini, Barbara / Matyakhina, Ludmila / Bei, Thalia / Muchow, Michael / Boikos, Sosipatros / Ferrando, Barbara / Carney, J Aidan / Stratakis, Constantine A

    The Journal of clinical endocrinology and metabolism

    2007  Band 92, Heft 9, Seite(n) 3728–3732

    Abstract: Context: Gastrointestinal stromal tumors (GISTs) may be caused by somatic or germline mutations of the KIT and PDGFRA genes, but most GISTs associated with neuroendocrine tumors (NETs) are not, suggesting that other molecular pathways are implicated in ... ...

    Abstract Context: Gastrointestinal stromal tumors (GISTs) may be caused by somatic or germline mutations of the KIT and PDGFRA genes, but most GISTs associated with neuroendocrine tumors (NETs) are not, suggesting that other molecular pathways are implicated in their pathogenesis.
    Objective: In the course of investigating NETs and GIST genetics, we encountered a patient who had a unique combination of multiple fibrous polyps and lipomas of the small intestine and several gastric GISTs.
    Design: The study included the clinical description of a unique patient, DNA sequencing of germline and tumor DNA, and comparative genomic hybridization (CGH) and allelic marker analysis of tumor DNA.
    Results: The patient was found to carry a germline PDGFRA mutation (V561D) in the heterozygote state; it has only been seen rarely before and only in the somatic state in sporadic GISTs. CGH identified losses of chromosomal regions 1p33-36, 9q12-24, 11q13, and 16q; loss of the 14q region that is commonly lost in NETs and GISTs was shown by DNA marker analysis. These changes are likely to point to secondary and tertiary genetic hits involved in the formation of these rare tumors.
    Conclusions: Multiple GISTs and other tumors may be caused by germline PDGFRA gene mutations; the V561D mutation can occur in the germline state and lead to a syndrome that should not be confused with other genetic conditions associated with a predisposition to NETs and other tumors. A number of chromosomal loci are likely to be involved in the PDGFRA V561D-dependent tumorigenesis, as shown by CGH and other DNA analyses.
    Mesh-Begriff(e) Aspartic Acid/genetics ; Base Sequence ; DNA Mutational Analysis ; Female ; Gastrointestinal Stromal Tumors/genetics ; Germ-Line Mutation ; Humans ; Middle Aged ; Neoplasms, Multiple Primary/genetics ; Receptor, Platelet-Derived Growth Factor alpha/genetics ; Valine/genetics
    Chemische Substanzen Aspartic Acid (30KYC7MIAI) ; Receptor, Platelet-Derived Growth Factor alpha (EC 2.7.10.1) ; Valine (HG18B9YRS7)
    Sprache Englisch
    Erscheinungsdatum 2007-09
    Erscheinungsland United States
    Dokumenttyp Case Reports ; Journal Article ; Research Support, N.I.H., Intramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 3029-6
    ISSN 1945-7197 ; 0021-972X
    ISSN (online) 1945-7197
    ISSN 0021-972X
    DOI 10.1210/jc.2007-0894
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  3. Artikel ; Online: Mutation analysis of SDHB and SDHC

    Wong Nora / Ferrando Barbara / Pasini Barbara / Menko Fred H / Oomen Peter HN / Jansen Jeroen C / Weiss Marjan M / van Minderhout Ivonne / Bayley Jean-Pierre / Alpert Lesley C / Williams Rosie / Blair Edward / Devilee Peter / Taschner Peter EM

    BMC Medical Genetics, Vol 7, Iss 1, p

    novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma

    2006  Band 1

    Abstract: Abstract Background Germline mutations of the SDHD, SDHB and SDHC genes, encoding three of the four subunits of succinate dehydrogenase, are a major cause of hereditary paraganglioma and pheochromocytoma, and demonstrate that these genes are classic ... ...

    Abstract Abstract Background Germline mutations of the SDHD, SDHB and SDHC genes, encoding three of the four subunits of succinate dehydrogenase, are a major cause of hereditary paraganglioma and pheochromocytoma, and demonstrate that these genes are classic tumor suppressors. Succinate dehydrogenase is a heterotetrameric protein complex and a component of both the Krebs cycle and the mitochondrial respiratory chain (succinate:ubiquinone oxidoreductase or complex II). Methods Using conformation sensitive gel electrophoresis (CSGE) and direct DNA sequencing to analyse genomic DNA from peripheral blood lymphocytes, here we describe the mutation analysis of the SDHB and SDHC genes in 37 patients with sporadic (i.e. no known family history) head and neck paraganglioma and five pheochromocytoma and/or paraganglioma families. Results Two sporadic patients were found to have a SDHB splice site mutation in intron 4, c.423+1G>A, which produces a mis-spliced transcript with a 54 nucleotide deletion, resulting in an 18 amino acid in-frame deletion. A third patient was found to carry the c.214C>T (p.Arg72Cys) missense mutation in exon 4 of SDHC, which is situated in a highly conserved protein motif that constitutes the quinone-binding site of the succinate: ubiquinone oxidoreductase (SQR) complex in E. coli . Together with our previous results, we found 27 germline mutations of SDH genes in 95 cases (28%) of sporadic head and neck paraganglioma. In addition all index patients of five families showing hereditary pheochromocytoma-paraganglioma were found to carry germline mutations of SDHB: four of which were novel, c.343C>T (p.Arg115X), c.141G>A (p.Trp47X), c.281G>A (p.Arg94Lys), and c.653G>C (p.Trp218Ser), and one reported previously, c.136C>T, p.Arg46X. Conclusion In conclusion, these data indicate that germline mutations of SDHB and SDHC play a minor role in sporadic head and neck paraganglioma and further underline the importance of germline SDHB mutations in cases of familial pheochromocytoma-paraganglioma.
    Schlagwörter Internal medicine ; RC31-1245 ; Genetics ; QH426-470
    Thema/Rubrik (Code) 572
    Sprache Englisch
    Erscheinungsdatum 2006-01-01T00:00:00Z
    Verlag BMC
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  4. Artikel ; Online: Succinate dehydrogenase (SDH) D subunit (SDHD) inactivation in a growth-hormone-producing pituitary tumor: a new association for SDH?

    Xekouki, Paraskevi / Pacak, Karel / Almeida, Madson / Wassif, Christopher A / Rustin, Pierre / Nesterova, Maria / de la Luz Sierra, Maria / Matro, Joey / Ball, Evan / Azevedo, Monalisa / Horvath, Anelia / Lyssikatos, Charalampos / Quezado, Martha / Patronas, Nicholas / Ferrando, Barbara / Pasini, Barbara / Lytras, Aristides / Tolis, George / Stratakis, Constantine A

    The Journal of clinical endocrinology and metabolism

    2011  Band 97, Heft 3, Seite(n) E357–66

    Abstract: Background: Mutations in the subunits B, C, and D of succinate dehydrogenase (SDH) mitochondrial complex II have been associated with the development of paragangliomas (PGL), gastrointestinal stromal tumors, papillary thyroid and renal carcinoma (SDHB), ...

    Abstract Background: Mutations in the subunits B, C, and D of succinate dehydrogenase (SDH) mitochondrial complex II have been associated with the development of paragangliomas (PGL), gastrointestinal stromal tumors, papillary thyroid and renal carcinoma (SDHB), and testicular seminoma (SDHD).
    Aim: Our aim was to examine the possible causative link between SDHD inactivation and somatotropinoma.
    Patients and methods: A 37-yr-old male presented with acromegaly and hypertension. Other family members were found with PGL. Elevated plasma and urinary levels of catecholamines led to the identification of multiple PGL in the proband in the neck, thorax, and abdomen. Adrenalectomy was performed for bilateral pheochromocytomas (PHEO). A GH-secreting macroadenoma was also found and partially removed via transsphenoidal surgery (TTS). Genetic analysis revealed a novel SDHD mutation (c.298_301delACTC), leading to a frame shift and a premature stop codon at position 133 of the protein. Loss of heterozygosity for the SDHD genetic locus was shown in the GH-secreting adenoma. Down-regulation of SDHD protein in the GH-secreting adenoma by immunoblotting and immunohistochemistry was found. A literature search identified other cases of multiple PGL and/or PHEO in association with pituitary tumors.
    Conclusion: We describe the first kindred with a germline SDHD pathogenic mutation, inherited PGL, and acromegaly due to a GH-producing pituitary adenoma. SDHD loss of heterozygosity, down-regulation of protein in the GH-secreting adenoma, and decreased SDH enzymatic activity supports SDHD's involvement in the pituitary tumor formation in this patient. Older cases of multiple PGL and PHEO and pituitary tumors in the literature support a possible association between SDH defects and pituitary tumorigenesis.
    Mesh-Begriff(e) Acromegaly/genetics ; Acromegaly/metabolism ; Adenoma/genetics ; Adenoma/metabolism ; Adult ; Codon, Nonsense ; Frameshift Mutation ; Genetic Loci ; Germ-Line Mutation ; Growth Hormone/metabolism ; Humans ; Hypertension/genetics ; Hypertension/metabolism ; Loss of Heterozygosity ; Male ; Pituitary Neoplasms/genetics ; Pituitary Neoplasms/metabolism ; Succinate Dehydrogenase/genetics ; Succinate Dehydrogenase/metabolism
    Chemische Substanzen Codon, Nonsense ; SDHD protein, human ; Growth Hormone (9002-72-6) ; Succinate Dehydrogenase (EC 1.3.99.1)
    Sprache Englisch
    Erscheinungsdatum 2011-12-14
    Erscheinungsland United States
    Dokumenttyp Case Reports ; Journal Article ; Research Support, N.I.H., Intramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 3029-6
    ISSN 1945-7197 ; 0021-972X
    ISSN (online) 1945-7197
    ISSN 0021-972X
    DOI 10.1210/jc.2011-1179
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  5. Artikel: The familial medullary thyroid carcinoma-associated RET E768D mutation in a multiple endocrine neoplasia type 2A case.

    Aiello, Antonella / Cioni, Katia / Gobbo, Morena / Collini, Paola / Gullo, Maria / Della Torre, Gabriella / Passerini, Emanuele / Ferrando, Barbara / Pilotti, Silvana / Pierotti, Marco A / Pasini, Barbara

    Surgery

    2005  Band 137, Heft 5, Seite(n) 574–576

    Mesh-Begriff(e) Carcinoma/genetics ; Female ; Humans ; Middle Aged ; Multiple Endocrine Neoplasia Type 2a/genetics ; Mutation/genetics ; Oncogene Proteins/genetics ; Proto-Oncogene Proteins c-ret ; Receptor Protein-Tyrosine Kinases/genetics ; Thyroid Neoplasms/genetics
    Chemische Substanzen Oncogene Proteins ; Proto-Oncogene Proteins c-ret (EC 2.7.10.1) ; RET protein, human (EC 2.7.10.1) ; Receptor Protein-Tyrosine Kinases (EC 2.7.10.1)
    Sprache Englisch
    Erscheinungsdatum 2005-05
    Erscheinungsland United States
    Dokumenttyp Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 202467-6
    ISSN 1532-7361 ; 0039-6060
    ISSN (online) 1532-7361
    ISSN 0039-6060
    DOI 10.1016/j.surg.2005.01.014
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  6. Artikel ; Online: Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma.

    Bayley, Jean-Pierre / van Minderhout, Ivonne / Weiss, Marjan M / Jansen, Jeroen C / Oomen, Peter H N / Menko, Fred H / Pasini, Barbara / Ferrando, Barbara / Wong, Nora / Alpert, Lesley C / Williams, Rosie / Blair, Edward / Devilee, Peter / Taschner, Peter E M

    BMC medical genetics

    2006  Band 7, Seite(n) 1

    Abstract: Background: Germline mutations of the SDHD, SDHB and SDHC genes, encoding three of the four subunits of succinate dehydrogenase, are a major cause of hereditary paraganglioma and pheochromocytoma, and demonstrate that these genes are classic tumor ... ...

    Abstract Background: Germline mutations of the SDHD, SDHB and SDHC genes, encoding three of the four subunits of succinate dehydrogenase, are a major cause of hereditary paraganglioma and pheochromocytoma, and demonstrate that these genes are classic tumor suppressors. Succinate dehydrogenase is a heterotetrameric protein complex and a component of both the Krebs cycle and the mitochondrial respiratory chain (succinate:ubiquinone oxidoreductase or complex II).
    Methods: Using conformation sensitive gel electrophoresis (CSGE) and direct DNA sequencing to analyse genomic DNA from peripheral blood lymphocytes, here we describe the mutation analysis of the SDHB and SDHC genes in 37 patients with sporadic (i.e. no known family history) head and neck paraganglioma and five pheochromocytoma and/or paraganglioma families.
    Results: Two sporadic patients were found to have a SDHB splice site mutation in intron 4, c.423+1G>A, which produces a mis-spliced transcript with a 54 nucleotide deletion, resulting in an 18 amino acid in-frame deletion. A third patient was found to carry the c.214C>T (p.Arg72Cys) missense mutation in exon 4 of SDHC, which is situated in a highly conserved protein motif that constitutes the quinone-binding site of the succinate: ubiquinone oxidoreductase (SQR) complex in E. coli. Together with our previous results, we found 27 germline mutations of SDH genes in 95 cases (28%) of sporadic head and neck paraganglioma. In addition all index patients of five families showing hereditary pheochromocytoma-paraganglioma were found to carry germline mutations of SDHB: four of which were novel, c.343C>T (p.Arg115X), c.141G>A (p.Trp47X), c.281G>A (p.Arg94Lys), and c.653G>C (p.Trp218Ser), and one reported previously, c.136C>T, p.Arg46X.
    Conclusion: In conclusion, these data indicate that germline mutations of SDHB and SDHC play a minor role in sporadic head and neck paraganglioma and further underline the importance of germline SDHB mutations in cases of familial pheochromocytoma-paraganglioma.
    Mesh-Begriff(e) Adolescent ; Adrenal Gland Neoplasms/genetics ; Adult ; Aged ; DNA Mutational Analysis ; Female ; Germ-Line Mutation ; Head and Neck Neoplasms/genetics ; Humans ; Iron-Sulfur Proteins/genetics ; Male ; Membrane Proteins/genetics ; Middle Aged ; Paraganglioma/genetics ; Pheochromocytoma/genetics ; Protein Subunits/genetics ; RNA Splice Sites ; Succinate Dehydrogenase/genetics
    Chemische Substanzen Iron-Sulfur Proteins ; Membrane Proteins ; Protein Subunits ; RNA Splice Sites ; SDHC protein, human ; SDHB protein, human (EC 1.3.5.1) ; Succinate Dehydrogenase (EC 1.3.99.1)
    Sprache Englisch
    Erscheinungsdatum 2006-01-11
    Erscheinungsland England
    Dokumenttyp Journal Article
    ISSN 1471-2350
    ISSN (online) 1471-2350
    DOI 10.1186/1471-2350-7-1
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  7. Artikel: Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.

    Pasini, Barbara / McWhinney, Sarah R / Bei, Thalia / Matyakhina, Ludmila / Stergiopoulos, Sotirios / Muchow, Michael / Boikos, Sosipatros A / Ferrando, Barbara / Pacak, Karel / Assie, Guillaume / Baudin, Eric / Chompret, Agnes / Ellison, Jay W / Briere, Jean-Jacques / Rustin, Pierre / Gimenez-Roqueplo, Anne-Paule / Eng, Charis / Carney, J Aidan / Stratakis, Constantine A

    European journal of human genetics : EJHG

    2008  Band 16, Heft 1, Seite(n) 79–88

    Abstract: Gastrointestinal stromal tumors (GISTs) may be caused by germline mutations of the KIT and platelet-derived growth factor receptor-alpha (PDGFRA) genes and treated by Imatinib mesylate (STI571) or other protein tyrosine kinase inhibitors. However, not ... ...

    Abstract Gastrointestinal stromal tumors (GISTs) may be caused by germline mutations of the KIT and platelet-derived growth factor receptor-alpha (PDGFRA) genes and treated by Imatinib mesylate (STI571) or other protein tyrosine kinase inhibitors. However, not all GISTs harbor these genetic defects and several do not respond to STI571 suggesting that other molecular mechanisms may be implicated in GIST pathogenesis. In a subset of patients with GISTs, the lesions are associated with paragangliomas; the condition is familial and transmitted as an autosomal-dominant trait. We investigated 11 patients with the dyad of 'paraganglioma and gastric stromal sarcoma'; in eight (from seven unrelated families), the GISTs were caused by germline mutations of the genes encoding subunits B, C, or D (the SDHB, SDHC and SDHD genes, respectively). In this report, we present the molecular effects of these mutations on these genes and the clinical information on the patients. We conclude that succinate dehydrogenase deficiency may be the cause of a subgroup of GISTs and this offers a therapeutic target for GISTs that may not respond to STI571 and its analogs.
    Mesh-Begriff(e) Adolescent ; Adult ; Alleles ; Antineoplastic Agents/therapeutic use ; Base Sequence ; Benzamides ; Child ; DNA Primers/genetics ; DNA, Neoplasm/genetics ; Female ; Gastrointestinal Stromal Tumors/drug therapy ; Gastrointestinal Stromal Tumors/enzymology ; Gastrointestinal Stromal Tumors/genetics ; Gastrointestinal Stromal Tumors/pathology ; Genes, Dominant ; Germ-Line Mutation ; Heterozygote ; Humans ; Imatinib Mesylate ; Iron-Sulfur Proteins/genetics ; Loss of Heterozygosity ; Male ; Membrane Proteins/genetics ; Neoplastic Syndromes, Hereditary/drug therapy ; Neoplastic Syndromes, Hereditary/enzymology ; Neoplastic Syndromes, Hereditary/genetics ; Neoplastic Syndromes, Hereditary/pathology ; Paraganglioma/drug therapy ; Paraganglioma/enzymology ; Paraganglioma/genetics ; Paraganglioma/pathology ; Piperazines/therapeutic use ; Pyrimidines/therapeutic use ; Succinate Dehydrogenase/genetics
    Chemische Substanzen Antineoplastic Agents ; Benzamides ; DNA Primers ; DNA, Neoplasm ; Iron-Sulfur Proteins ; Membrane Proteins ; Piperazines ; Pyrimidines ; SDHC protein, human ; SDHD protein, human ; Imatinib Mesylate (8A1O1M485B) ; SDHB protein, human (EC 1.3.5.1) ; Succinate Dehydrogenase (EC 1.3.99.1)
    Sprache Englisch
    Erscheinungsdatum 2008-01
    Erscheinungsland England
    Dokumenttyp Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 1141470-4
    ISSN 1476-5438 ; 1018-4813
    ISSN (online) 1476-5438
    ISSN 1018-4813
    DOI 10.1038/sj.ejhg.5201904
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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