Coexistence of TERT Promoter and BRAF Mutations in Papillary Thyroid Carcinoma: Added Value in Patient Prognosis?

2015 ◽  
Vol 33 (6) ◽  
pp. 667-668 ◽  
Author(s):  
Miguel Melo ◽  
Adriana Gaspar da Rocha ◽  
João Vinagre ◽  
Manuel Sobrinho-Simões ◽  
Paula Soares
2012 ◽  
Vol 6 (4) ◽  
pp. 687-694 ◽  
Author(s):  
GIULIA COSTANZA LEONARDI ◽  
SAVERIO CANDIDO ◽  
MAURIZIO CARBONE ◽  
FABIO RAITI ◽  
VALERIA COLAIANNI ◽  
...  

Author(s):  
Joana Ferra ◽  
Cátia Guimarães ◽  
Cristina Matos ◽  
Fernando Nogueira

Synchronous tumours are defined as two or more independent primary neoplasms of different origins diagnosed at the same time in 1 individual. Although rare, its incidence is increasing and the proper diagnosis and staging of each tumour is crucial in defining the patient prognosis and the best therapeutic choice. We present a case of a 56-year-old woman presenting with a lung adenocarcinoma and pulmonary metastases initially diagnosed as stage IV and who was started on a tyrosine kinase inhibitor (erlotinib). In the meantime, she was also diagnosed with papillary thyroid carcinoma and was submitted to complete thyroidectomy. After 6 cycles of erlotinib, thoracic CT showed a decrease in the dimensions of the primary pulmonary tumour, but an increase in the size and number of pulmonary metastases while blood tests showed elevated thyroglobulin. This therefore raised the possibility that the metastases could have originated from the thyroid carcinoma. Anatomo-pathological examination of the lung metastases confirmed this hypothesis. In conclusion, it is important to confirm the origin of metastases in synchronous tumours given this can lead to a re-staging of tumours and a different prognosis, along with other therapeutic options. A multidisciplinary team meeting is crucial to define management and therapeutic approaches for these patients.


Endocrine ◽  
2020 ◽  
Vol 68 (2) ◽  
pp. 349-357
Author(s):  
Hui Shi ◽  
Le-Hang Guo ◽  
Yi-Feng Zhang ◽  
Hui-Jun Fu ◽  
Jia-Yi Zheng ◽  
...  

2020 ◽  
Vol 13 (6) ◽  
pp. e234208
Author(s):  
Doaa Attia ◽  
Alexander Lurie ◽  
Qihui Zhai ◽  
Robert Smallridge

BCL6 corepressor like-1 (BCORL1) mutation has rarely been described in thyroid cancer or in association with BRAF mutations in any malignancy. However, we report a 49-year-old woman who had aggressive follicular variant papillary thyroid carcinoma (FV-PTC) with both the BRAF K601E and BCORL1 mutations. The patient underwent a total thyroidectomy for a 3.6 cm right thyroid nodule and a smaller lesion in the left lobe in 2007; both were FV-PTCs with no lymphovascular invasion or metastases. In 2015, a positron emission tomography–CT scan showed a small defect in the left posterior lateral fifth rib with mild increased hypermetabolic activity with standardised uptake value of 3.9 and another lesion in the right hip at the junction of the femoral neck and trochanter. Tumour biopsy and genetic analysis revealed an uncommon BRAF K601E and a rare BCORL1 mutation. While rare, we report a case of aggressive FV-PTC with both the BRAF K601E and BCORL1 mutations.


2015 ◽  
Vol 2015 ◽  
pp. 1-5 ◽  
Author(s):  
Karla Judith González-Colunga ◽  
Abelardo Loya-Solis ◽  
Luis Ángel Ceceñas-Falcón ◽  
Oralia Barboza-Quintana ◽  
René Rodríguez-Gutiérrez

Defining the histologic variant of thyroid carcinoma is an important clinical implication as their progression, recurrence, aggressiveness, and prognosis differ. Warthin-like variant is one of the rarest histologic variants of papillary thyroid cancer. A 36-year-old female sought consult for assessment of a painless right neck tumor. High-resolution neck ultrasound revealed a right hypoechoic, 1.71 × 1.05 cm thyroid nodule. Ultrasound-guided fine-needle aspiration biopsy report was a Bethesda grade III. Thyroid function tests showed Hashimoto’s thyroiditis. The patient underwent right hemithyroidectomy. Microscopically, the tumor was composed of papillae lined by cells with eosinophilic cytoplasm, nuclear chromatin clearing, grooves, and pseudoinclusions and a characteristic lymphoplasmacytic infiltrate of the papillae cores. Extension into the perithyroidal soft tissue and 3 ipsilateral lymph nodes was found to be positive for cancer. Warthin-like variant is an uncommon and relatively unknown variant of papillary thyroid carcinoma that has been usually associated with an excellent prognosis. Interestingly, BRAF mutations have been reported to be present in up to 75% of the patients. It is frequently associated with Hashimoto’s thyroiditis and presents unique morphological features that make it recognizable on histologic examination. The cytological diagnosis is difficult to assess due to the overlap in its findings with the classical variant and Hashimoto’s thyroiditis.


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