Case of aggressive metastatic follicular variant papillary thyroid carcinoma with BRAF K601E and BCORL1 mutations

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.

Author(s):  
Fernando Garcia Perez ◽  
Guillermo Martinez de Pinillos Gordillo ◽  
Mariana Tome Fernandez-Ladreda ◽  
Eyvee Arturo Cuellar Lloclla ◽  
Jose Alvaro Romero Porcel ◽  
...  

Thyroid ◽  
2005 ◽  
Vol 15 (12) ◽  
pp. 1349-1354 ◽  
Author(s):  
Tasoula Tsilchorozidou ◽  
Eleni Vafiadou ◽  
John G. Yovos ◽  
Giovani Romeo ◽  
James McKay ◽  
...  

2016 ◽  
Vol 107 (1) ◽  
pp. 83-85
Author(s):  
A. Márquez García ◽  
L. Ferrándiz Pulido ◽  
J.J. Ríos-Martín ◽  
F.M. Camacho Martínez

2018 ◽  
Vol 19 (3) ◽  
pp. 655 ◽  
Author(s):  
Marta Kotlarek ◽  
Anna Kubiak ◽  
Małgorzata Czetwertyńska ◽  
Michał Świerniak ◽  
Wojciech Gierlikowski ◽  
...  

2016 ◽  
Vol 23 (3) ◽  
pp. 31-37
Author(s):  
Fatimah A. Alturkistani ◽  
Murad A. Alturkustani

Pathological diagnosis of follicular variant of papillary thyroid carcinoma has high inter and intra-observer variability among expert pathologists, aff ecting prognosis and management of the disease. A recent study applying strict diagnostic criteria and long-term follow up confi rmed the indolent behavior of a subtype of these tumors. They recommended a nomenclature change to noninvasive follicular thyroid neoplasm with papillary-like nuclear features, refl ecting the low risk of adverse outcomes. We searched the pathology archives of King Abdulaziz University Hospital from 2002-2016 for all cases diagnosed with “follicular variant of papillary thyroid carcinoma”. Clinical data, and imaging fi ndings were retrospectively reviewed. Available pathologyslides were reviewed using the proposed inclusion and exclusion diagnostic criteria. We confi rmed the diagnostic reproducibility of the suggested criteria. Ten out of 37 cases met the diagnostic criteria. Eightadditional patients could have had their diagnosis modifi ed if sufficient tissue samples were available. Follow up data confi rmed the indolent behavior in these cases with no recurrence or adverse outcome. We concluded that application of the new diagnostic criteria for this subtype is reasonable and has major ramifi cations for the diagnosis and management as this will spare unnecessary thyroidectomies, radioactive iodine therapy, and their complications.


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