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BRAF gene mutations in synchronous papillary thyroid carcinoma and Langerhans cell histiocytosis co-existing in the thyroid gland: a case report and literature review

机译:BRAF基因突变在同步乳头状甲状腺癌和朗格汉斯细胞组织菌中的甲状腺:案例报告和文献综述

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Langerhans cell histiocytosis (LCH) is a rare clonal disease, characterized by hyperproliferation of Langerhans cells. It may rarely involve the thyroid gland. Its association with papillary thyroid carcinoma (PTC) is extremely rare; with only few case reports available in the English literature. BRAF mutations are implicated in the development of papillary thyroid carcinoma, and have also been identified in Langerhans cell histiocytosis. Here we present a rare case of a 36-year-old Indonesian female patient with dysphagia associated with neck mass which was complicated by skin sinus formation. The diagnosis of PTC was rendered on fine needle aspiration (FNA). Debulking thyroidectomy revealed co-existeence of PTC and LCH. On subsequent molecular testing, BRAF V600E and V600K mutations were detected in tissues macrodissected from both lesions, respectively. To the best of our knowledge, this case is the first case to report two different BRAF mutations in tissues of a Langerhans cell histiocytosis and a papillary thyroid carcinoma co-existing in the thyroid gland. The patient received chemotherapy of etoposide combined with prednisone. At the most recent follow-up, the patient is in a stable clinical condition. The coexistence of a PTC with LCH harboring BRAF mutation may suggest etiologic relation between the two conditions that involves the BRAF gene. Clinically, it may suggest an aggressive, locally advanced thyroid cancer, an impression that may reflect on the selected surgical management, chemotherapy and BRAF mutation-targeting therapy to these patients.
机译:Langerhans细胞组织菌症(LCH)是一种稀有克隆疾病,其特征在于朗格汉斯细胞的过度增殖。它可能很少涉及甲状腺。它与乳头状甲状腺癌(PTC)的关系非常罕见;只有很少的案例报告在英国文学中提供。 BRAF突变涉及乳头状甲状腺癌的发育,并在Langerhans细胞组织菌中鉴定出来。在这里,我们举行了一个罕见的患有36岁的印度尼西亚女性患者,患有颈部肿块相关的吞咽肿块,这与皮肤窦形成复杂。 PTC的诊断是在细针抽吸(FNA)上的诊断。 Debulking甲状腺切除术揭示了PTC和LCH的共存。在随后的分子测试中,在从两个病变的组织中检测到BRAF V600E和V600K突变。据我们所知,这种情况是第一种报告兰科斯细胞组织菌和乳头腺癌组织中两种不同的BRAF突变和共存在甲状腺腺体中的乳头状甲状腺癌中的案例。患者接受了与泼尼松联合的依托磷脂的化疗。在最近的后续随访中,患者处于稳定的临床条件下。 PTC与LCH携带BRAF突变的共存可能表明涉及BRAF基因的两个条件之间的病因关系。临床上,它可能表明一种侵略性,局部晚期的甲状腺癌,这是可能反映对这些患者所选择的手术管理,化疗和BRAF突变靶向治疗的印象。

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