scholarly journals Concomitant BRAF Mutation in Hairy Cell Leukemia and Papillary Thyroid Cancer: Case Report

2019 ◽  
Vol 12 (3) ◽  
pp. 922-927
Author(s):  
Shehab F. Mohamed ◽  
Feryal Helmi ◽  
Susanna El-Akiki ◽  
Halima El Omri ◽  
Abdulqadir Nashwan ◽  
...  

Hairy cell leukemia (HCL) is rare type of leukemia. This neoplasm is well-known to present with pancytopenia and splenomegaly. HCL is associated with BRAF mutation in 100% of cases. It is also associated with hematological and oncological malignancies such as melanoma and papillary thyroid cancer. Although the association of both cancers (HCL and papillary thyroid cancer) with BRAF mutation is well established in the literature, as far as we know it has not been reported before in the same patient. Here we report 48-year-old male diagnosed with HCL and papillary thyroid cancer and who is BRAF positive in both diagnostic tissues.

Blood ◽  
2018 ◽  
Vol 132 (Supplement 1) ◽  
pp. 5140-5140
Author(s):  
Shehab Mohamed ◽  
Mohamed A Yassin ◽  
Abdulqadir Jeprel Nashwan ◽  
Halima El Omri ◽  
Firyal Ibrahim ◽  
...  

Abstract Hairy cell leukemia (HCL) is an uncommon but distinct form of mature B-cell neoplasm that originates from activated late B-cells. It represents only 2% of all adult lymphoid leukemia; patients are predominantly middle-aged to elderly males with a median age of 50 years and is characterized by pancytopenia, monocytopenia and usually associated with massive splenomegaly. HCL associated with BRAF mutation 100% of cases, it's associated with hematological and oncological malignancies such as melanoma and papillary thyroid cancer with positive BRAF in 40 % of cases. Although the association of both cancers (HCL & papillary thyroid cancer) with BRAF mutation is well established in the literature, up to our knowledge, this specific combination has not been previously reported in one patient. Here we report a case of 48-year old Lebanese male, who presented to with bilateral hip pain and found to have lytic bone lesions on both x-ray and MRI. HIS CBC were normal and abdominal US didn't show any splenomegaly. Work-up for myeloma were negative. Bone marrow examination and flow cytometry results confirmed the diagnosis of hairy cell leukemia. The patient treated with cladrabine. Patient responded but have continues fever, PUO included Piston tomography showed abnormal uptake in thyroid. Ultrasound and final needle aspiration diagnose him as case of papillary thyroid cancer. He was treated with total thyroidectomy and followed up with RAI 30 micori. We sent BRAF from both bone marrow biopsy and thyroid tissue which turn out positive in both. The mutation results in substitution of adenine for thymine at position 1799 in exon 15 of the BRAF that replaces Valine (V) by glutamate (E) at amino acid 600(BRAF V600E). Although the BRAF V600E mutation is frequently present in different neoplasms, such as melanoma, papillary thyroid cancer, non-small cell lung cancer, colorectal cancer and Langerhans cell histiocytosis (X), within the lymphoid neoplasms, the BRAFV600E mutation is found to be highly specific for HCL and testing for this mutation is particularly useful in differentiating classic HCL from other B- cell neoplasm with overlapping features, such as HCL variant Mutation in BRAF (particularly V600E) in HCL remarkably increase the BRAF kinase activity renders the protein constitutively active, phosphorylating then ERK as a monomers independent from upstream regulatory signals or in a RAS-independent manner leading to constitutive activation of RAF-MEK-ERK signaling pathway and enhanced survival of leukemic hairy cells, similar to what occurs in other BRAF-mutated tumors as papillary thyroid carcinomas Other BRAF mutations outside exon 15 were rarely reported as exon 11 F468C and D449E mutations. We emphasize on the link of BRAF mutation in HCL and papillary thyroid cancer. The biology has been established but never in real clinical case. We recommend having high clinical suspicion and sending BRAF mutation in those types of cancers and link it with other possible abnormal findings, as might detect more cases of similar association. Disclosures No relevant conflicts of interest to declare.


Thyroid ◽  
2006 ◽  
Vol 16 (10) ◽  
pp. 1047-1051 ◽  
Author(s):  
Anke Tönjes ◽  
Stefan Karger ◽  
Christian A. Koch ◽  
Ralf Paschke ◽  
Andrea Tannapfel ◽  
...  

2020 ◽  
Vol 13 (3) ◽  
pp. 1364-1367
Author(s):  
Afaf Albattah ◽  
Yahia Imam ◽  
Ahmed Osman Saleh ◽  
Khalid Ahmed ◽  
Tarek Aboursheid ◽  
...  

Thyroid cancer is the most frequent endocrine neoplasm in the general population. Common risk factors include gender, radiation exposure, and genetic backgrounds. The association of papillary thyroid cancer and celiac disease has frequently been reported in the literature; however, the association of papillary thyroid cancer and thalassemia trait is rare. Likewise, the association of thalassemia major and celiac disease is also rare. We hereby report a unique case of papillary thyroid cancer in a patient with celiac disease and thalassemia trait.


Author(s):  
Laura Vittoria ◽  
Fabio Bozzi ◽  
Iolanda Capone ◽  
Cristiana Carniti ◽  
Daniele Lorenzini ◽  
...  

2020 ◽  
Vol 60 ◽  
pp. 614-618
Author(s):  
Suwardjo Suwardjo ◽  
Widya Surya Avanti ◽  
Ery Kus Dwianingsih ◽  
Wirsma Arif Harahap ◽  
Sumadi Lukman Anwar

2006 ◽  
Vol 391 (3) ◽  
pp. 178-186 ◽  
Author(s):  
T. Negele ◽  
G. Meisetschläger ◽  
T. Brückner ◽  
K. Scheidhauer ◽  
M. Schwaiger ◽  
...  

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