Diffuse sclerosing variant of papillary thyroid carcinoma: Lack of BRAF mutation but occurrence of RET/PTC rearrangements

  • Sheu S
  • Schwertheim S
  • Worm K
 et al. 
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Abstract

Diffuse sclerosing variant of papillary thyroid carcinoma (PTC) is a rare tumour with a characteristic morphology as well as a strong preponderance for younger female patients. The T1799A missense mutation in exon 15 of the BRAF gene and RET/PTC rearrangement have been identified as the dominant genetic tumour initiation events in the pathogenesis of PTC leading to a constitutive activation of the RAS-RAF-MAPK pathway. In order to elucidate the pathogenesis of diffuse sclerosing variant of PTC, the prevalence of BRAF mutation and RET/PTC were determined by RT-polymerase chain reaction and DNA-sequence analysis in tumour samples of seven patients with this variant (all female, age range 15-61 years, mean 33.3 years) without prior radiation exposure. None of these cases showed a BRAF mutation. RET/PTC1 (two out of seven) and RET/PTC3 (one out of seven), which have been shown in large PTC series to comprise together more than 90% of RET/PTC types, were found in

Author-supplied keywords

  • BRAF
  • Diffuse sclerosing variant of papillary thyroid carcinoma
  • RET/PTC rearrangement

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Authors

  • Sien Yi Sheu

  • Suzan Schwertheim

  • Karl Worm

  • Florian Grabellus

  • Kurt Werner Schmid

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