Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Familiäres meduläres Schilddrüsenkarzinom

Das familiäres meduläres Schilddrüsenkarzinom ist eine autosomal dominante Erkrankung die durch Mutationen des RET-Gens und chimärer Genfusionen mit dem NTRK1-Gen hevorgerufen wird. Da sich das Karzinom aus den medullären Zellen entwickelt, die normalerweise für die Calcitoninsekretion verantwortlich sind, kann man bei den Patienten oft einen erhöhten Calcitonin-Spiegel finden.

Gliederung

Schilddrüsenkarzinome
Familiäres meduläres Schilddrüsenkarzinom
NTRK1
RET
Nicht-medulläres Schilddrüsenkarzinom

Referenzen:

1.

Loré F et. al. (2000) Unilateral renal agenesis in a family with medullary thyroid carcinoma.

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2.

Cote GJ et. al. (2003) Lessons learned from the management of a rare genetic cancer.

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3.

Farndon JR et. al. (1986) Familial medullary thyroid carcinoma without associated endocrinopathies: a distinct clinical entity.

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4.

Gimm O et. al. (1999) Mutation analysis reveals novel sequence variants in NTRK1 in sporadic human medullary thyroid carcinoma.

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5.

Lairmore TC et. al. (1991) Familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2B map to the same region of chromosome 10 as multiple endocrine neoplasia type 2A.

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6.

Ferrer JP et. al. (1991) Primary localized cutaneous amyloidosis and familial medullary thyroid carcinoma.

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7.

Narod SA et. al. (1989) Linkage analysis of hereditary thyroid carcinoma with and without pheochromocytoma.

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8.

Loré F et. al. (2001) Multiple endocrine neoplasia type 2 syndromes may be associated with renal malformations.

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9.

Maio M et. al. (2003) Analysis of cancer/testis antigens in sporadic medullary thyroid carcinoma: expression and humoral response to NY-ESO-1.

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10.

Marsh DJ et. al. (2003) Genome-wide copy number imbalances identified in familial and sporadic medullary thyroid carcinoma.

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11.

Machens A et. al. (2003) Early malignant progression of hereditary medullary thyroid cancer.

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12.

Abu-Amero KK et. al. (2006) Association of mitochondrial DNA transversion mutations with familial medullary thyroid carcinoma/multiple endocrine neoplasia type 2 syndrome.

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