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.
|
|
|
|||
|
|
|
|
||
|
|
|
|
||
|
|
|
|||
| 1. |
Farndon JR et al. (1986) Familial medullary thyroid carcinoma without associated endocrinopathies: a distinct clinical entity.
|
| 2. |
Loré F et al. (2000) Unilateral renal agenesis in a family with medullary thyroid carcinoma.
|
| 3. |
Cote GJ et al. (2003) Lessons learned from the management of a rare genetic cancer.
|
| 4. |
Gimm O et al. (1999) Mutation analysis reveals novel sequence variants in NTRK1 in sporadic human medullary thyroid carcinoma.
|
| 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.
|
| 6. |
Ferrer JP et al. (1991) Primary localized cutaneous amyloidosis and familial medullary thyroid carcinoma.
|
| 7. |
Narod SA et al. (1989) Linkage analysis of hereditary thyroid carcinoma with and without pheochromocytoma.
|
| 8. |
Loré F et al. (2001) Multiple endocrine neoplasia type 2 syndromes may be associated with renal malformations.
|
| 9. |
Maio M et al. (2003) Analysis of cancer/testis antigens in sporadic medullary thyroid carcinoma: expression and humoral response to NY-ESO-1.
|
| 10. |
Marsh DJ et al. (2003) Genome-wide copy number imbalances identified in familial and sporadic medullary thyroid carcinoma.
|
| 11. |
Machens A et al. (2003) Early malignant progression of hereditary medullary thyroid cancer.
|
| 12. |
Abu-Amero KK et al. (2006) Association of mitochondrial DNA transversion mutations with familial medullary thyroid carcinoma/multiple endocrine neoplasia type 2 syndrome.
|
| 13. |
OMIM.ORG article Omim 155240
|