scholarly journals Therapeutic Effect of Combined Dabrafenib and Trametinib Treatment of BRAF V600E-Mutated Primary Squamous Cell Carcinoma of the Thyroid: A Case Report

2021 ◽  
pp. 1-6
Author(s):  
Tim Brandenburg ◽  
Philipp Muchalla ◽  
Sarah Theurer ◽  
Kurt Werner Schmid ◽  
Dagmar Führer

<b><i>Introduction:</i></b> Primary squamous cell carcinoma (PSCC) of the thyroid is an exceptionally rare malignancy accounting for &#x3c;1% of all primary thyroid cancers. Therapy is multimodal including surgery, radiotherapy, and chemotherapy but with no consensus for management and therapy. Here, we describe a case of a male patient who presented with a BRAF V600E-mutated PSCC of the thyroid gland showing response to combined dabrafenib and trametinib therapy over a period of &#x3e;12 months. <b><i>Case Presentation:</i></b> A 78-year-old male patient presented with a 3-week history of dysphonia and dyspnoea. Laryngoscopy revealed a mechanical obstruction by a right-sided, subglottical mass, which on cervical ultrasound was highly suggestive of anaplastic thyroid carcinoma. Additional workup including esophagogastroduodenoscopy showed compression of the oesophagus but no oesophageal infiltration by the tumour. Immunohistochemistry displayed CK19-positive cells indicating epithelial origin of the tumour. CK5/6 and P40 immunohistochemistry confirmed the morphological impression of squamous cell differentiation while staining with thyroid markers TTF-1 and TPO was negative and PAX8 showed a nuclear positive signal. Based on immunohistopathology, presence of TP53 and BRAF V600E mutations, and exclusion of metastatic squamous cell carcinoma of other origin, the diagnosis of a PSCC of the thyroid was established. As an individualized treatment concept, we decided to advocate combined BRAF V600E targeting by the multikinase inhibitors dabrafenib and trametinib. This led to drastic improvement in patient’s quality of life without severe side effects over a period of &#x3e;12 months. <b><i>Conclusion:</i></b> In this case, molecular diagnosis allowed a highly individualized treatment concept with combined dabrafenib and trametinib therapy.

2019 ◽  
Vol 2019 ◽  
pp. 1-4 ◽  
Author(s):  
Nern Hoong Kao ◽  
Chien Sheng Tan ◽  
Adrian Jit Hin Koh

Primary squamous cell carcinoma of the thyroid gland (PSCCTh) and anaplastic thyroid carcinoma with extensive squamous differentiation are rare entities which pose a diagnostic challenge in determining the primary site when presented as metastases. The difficulty in confirming a thyroid primary is further compounded by the aggressive nature of these tumours which frequently present at advanced stages. We present a case in which the patient presented with a thyroid mass and a lung mass simultaneously. The risk of misinterpreting the site of primary tumour as lung is greatly increased because squamous cell carcinoma of lung is much more common than its thyroid counterpart. This case highlights the effectiveness of PAX-8 stain in determining the primary site of tumour when squamous cell carcinoma is found in both lung and thyroid gland.


2010 ◽  
Vol 2010 ◽  
pp. 1-3 ◽  
Author(s):  
Himisha Beltran ◽  
Brian D. Robinson ◽  
Scott T. Tagawa

We report an unusual case of a 78-year-old Caucasian female, who presented with peritoneal carcinomatosis and hypercalcemia, and was found to have a rapidly progressive primary squamous cell carcinoma of the urinary bladder. Squamous cell bladder carcinoma is a rare malignancy in the United States, accounting for just 1–3% of bladder tumors. Interestingly our patient lacked the established risk factors, including exposure to the parasiteSchistosoma haematobium, recurrent urinary tract infections, bladder calculi, radiation exposure, chronic indwelling catheter, neurogenic bladder, or tobacco abuse. Although hypercalcemia has been rarely described, an initial presentation of peritioneal carcinomatosis has not been previously reported.


2011 ◽  
Vol 2011 ◽  
pp. 1-3 ◽  
Author(s):  
John Adi Ashindoitiang ◽  
Francis Adedayo Faduyile ◽  
Olufemi Joshua Taiwo

Primary squamous cell carcinoma of the breast (SCCB) is a very rare malignancy of the breast and is generally aggressive. It is even rarer during the gestational period. Only few cases have been reported during pregnancy and lactation (Rokutanda et al., 2000). SCCB seen within the gestational period tends to be very aggressive and has a larger size than other breast carcinomas. Pure SCCB is derived from the epidermis of the breast, nipple, or metaplasia on chronic inflammatory background (Bige et al., 2007), such as complicated breast cyst, dermoid cyst, or abscess. We report a case of SCCB in a 30-year-old primigravida that had an aggressive propensity and fatal outcome.


2015 ◽  
Vol 2015 ◽  
pp. 1-3 ◽  
Author(s):  
Timothy J. Weatherall ◽  
Moon Fenton ◽  
Gitonga Munene ◽  
Paxton V. Dickson ◽  
Jeremiah L. Deneve

Primary squamous cell carcinoma (SCC) of the gallbladder is a rare malignancy of the gallbladder, accounting for less than 5% of gallbladder pathology. Initial presentation is often similar to adenocarcinoma of the gallbladder. SCC tends to be more locally aggressive, however, and possesses a worse prognosis than adenocarcinoma. We report a case of locally advanced SCC of the gallbladder.


2015 ◽  
Vol 2015 ◽  
pp. 1-3 ◽  
Author(s):  
Rahulkumar N. Chavan ◽  
Bhargav Chikkala ◽  
Cinjini Biswas ◽  
Somak Biswas ◽  
Diptendra Kumar Sarkar

Primary squamous cell carcinoma (PSCC) of thyroid is an extremely rare malignancy of thyroid. Herewith, we describe a case report of female patient who presented with neck swelling; FNAC misdiagnosed it as papillary carcinoma of thyroid but, after resection, biopsy revealed it to be a case of squamous cell carcinoma of thyroid. After extensive investigations no possible primary focus of squamous cell carcinoma was found elsewhere, so diagnosis of primary squamous cell carcinoma of thyroid was made. Patient underwent chemoradiation but still patient succumbed to death within a year.


Author(s):  
Jeong-Seok Choi ◽  
Jae-Yol Lim ◽  
Young Chae Chu ◽  
Sun U. Song ◽  
Young-Mo Kim

2021 ◽  
pp. 912-917
Author(s):  
Zainub Ajmal ◽  
Abdul Moiz Khan ◽  
Lezah McCarthy ◽  
Allison Lupinetti ◽  
Syed Mehdi

Leiomyosarcoma (LMS) of the trachea is an extremely rare malignancy with only a few reported cases in English literature. As such the diagnosis can be frequently missed or delayed. We present a case of a 69-year-old male who underwent tracheostomy for airway obstruction secondary to glottic squamous cell carcinoma and treated definitely with radiation therapy. Subsequently, the patient developed LMS of the tracheostomy site. The case further details multiple risk factors that could contribute to development of LMS including radiation exposure, prior malignancy, and chronic inflammation. These risk factors have been well established for LMS in other sites but less so in the head and neck region, which is the subject of our discussion. We also review the current guidelines for head and neck as well as limb sarcomas and discussed role of surgery or radiation and their accompanying challenges in management of this rare malignancy.


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