Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Phäochromozytom

Das Phenochromozytom ist eine endokrine Erkrankung die zu einer Überproduktion von Katecholaminen führt. Verschiedene Gene sind identifiziert worden, wo Mutationen zu einem Phäochromozytom führen können. Die Vererbung is autosomal dominant allerdings mit variabler Penetranz und Expressivität.

Gliederung

Erbliche endokrinologische Erkrankungen
Autoimmune Polyendokrinopathie
Erkrankungen der Nebenschilddrüse
Hereditärer Diabetes insipidus
Nierenerkrankungen mit endokrinologischer Manifestation
Phäochromozytom
GDNF
KIF1B
MAX
RET
SDHB
SDHD
TMEM127
VHL
Störungen der Regulation des Wachstums
Störungen des Schilddrüsenhormonsystems
Störungen des Steroidhormonsystems

Referenzen:

1.

Fairchild RS et. al. (1979) Neuroblastoma, pheochromocytoma, and renal cell carcinoma. Occurrence in a single patient.

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2.

Woodward ER et. al. (1997) Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL.

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3.

Gimm O et. al. (2000) Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma.

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4.

Neumann HP et. al. (2001) Case 13-2001: genetic testing in pheochromocytoma.

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5.

Neumann HP et. al. (2002) Germ-line mutations in nonsyndromic pheochromocytoma.

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6.

Dahia PL et. al. (2005) Novel pheochromocytoma susceptibility loci identified by integrative genomics.

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7.

Qin Y et. al. (2010) Germline mutations in TMEM127 confer susceptibility to pheochromocytoma.

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8.

Schimke RN et. al. (2010) Paraganglioma, neuroblastoma, and a SDHB mutation: Resolution of a 30-year-old mystery.

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9.

Comino-Méndez I et. al. (2011) Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma.

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10.

Neumann HP et al. (2007) Evidence of MEN-2 in the original description of classic pheochromocytoma.

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11.

Eng C et al. (1995) Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas.

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12.

Schlisio S et al. (2008) The kinesin KIF1Bbeta acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor.

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13.

Neumann HP et al. (1993) Pheochromocytomas, multiple endocrine neoplasia type 2, and von Hippel-Lindau disease.

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14.

Crossey PA et al. (1995) Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma.

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15.

van der Harst E et al. (1998) Germline mutations in the vhl gene in patients presenting with phaeochromocytomas.

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16.

Eisenhofer G et al. (1999) Plasma normetanephrine and metanephrine for detecting pheochromocytoma in von Hippel-Lindau disease and multiple endocrine neoplasia type 2.

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17.

Pacak K et al. (2001) A "pheo" lurks: novel approaches for locating occult pheochromocytoma.

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18.

Dluhy RG et al. (2002) Pheochromocytoma--death of an axiom.

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19.

Maher ER et al. (2002) The pressure rises: update on the genetics of phaeochromocytoma.

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20.

Sawka AM et al. (2003) A comparison of biochemical tests for pheochromocytoma: measurement of fractionated plasma metanephrines compared with the combination of 24-hour urinary metanephrines and catecholamines.

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21.

Moley JF et al. (1992) Consistent association of 1p loss of heterozygosity with pheochromocytomas from patients with multiple endocrine neoplasia type 2 syndromes.

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22.

COOK JE et al. (1960) Peculiar familial and malignant pheochromocytomas of the organs of Zuckerkandl.

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23.

Hering A et al. (2006) Characteristic genomic imbalances in pediatric pheochromocytoma.

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24.

Manger WM et al. (2006) An overview of pheochromocytoma: history, current concepts, vagaries, and diagnostic challenges.

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25.

Algeciras-Schimnich A et al. (2008) Plasma chromogranin A or urine fractionated metanephrines follow-up testing improves the diagnostic accuracy of plasma fractionated metanephrines for pheochromocytoma.

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26.

Khosla S et al. (1991) Loss of heterozygosity suggests multiple genetic alterations in pheochromocytomas and medullary thyroid carcinomas.

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27.

CALKINS E et al. (1947) Bilateral familial phaeochromocytomata with paroxysmal hypertension; successful surgical removal of tumors in two cases, with discussion of certain diagnostic procedures and physiological considerations.

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28.

Fearon ER et al. (1990) A genetic model for colorectal tumorigenesis.

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29.

Burnichon N et al. (2012) Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma.

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30.

Welander J et al. (2012) Integrative genomics reveals frequent somatic NF1 mutations in sporadic pheochromocytomas.

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31.

Pearse AG et al. (1969) The cytochemistry and ultrastructure of polypeptide hormone-producing cells of the APUD series and the embryologic, physiologic and pathologic implications of the concept.

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32.

Knudson AG et al. (1972) Mutation and cancer: neuroblastoma and pheochromocytoma.

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33.

Strunge P et al. (1972) Bilateral phaeochromocytoma in two brothers.

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34.

Kaufman JJ et al. (1979) Familial pheochromocytoma: a report of 2 cases in a kindred.

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35.

Swinton NW et al. (1972) Hypercalcemia and familial pheochromocytoma. Correction after adrenalectomy.

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36.

Engelman K et al. (1968) Further evaluation of the tyramine test for pheochromocytoma.

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37.

Hadorn W et al. (1963) [Clinical demonstrations].

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38.

Ho AD et al. (1978) Normotensive familial phaeochromocytoma with predominant noradrenaline secretion.

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39.

Dunn FG et al. (1976) Pheochromocytoma crisis induced by saralasin. Relation of angiotensin analogue to catecholamine release.

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40.

Melicow MM et al. (1977) One hundred cases of pheochromocytoma (107 tumors) at the Columbia-Presbyterian Medical Center, 1926-1976: a clinicopathological analysis.

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41.

Brauch H et al. (1997) Sporadic pheochromocytomas are rarely associated with germline mutations in the vhl tumor suppressor gene or the ret protooncogene.

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42.

Bar M et al. (1997) Sporadic phaeochromocytomas are rarely associated with germline mutations in the von Hippel-Lindau and RET genes.

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