Carcinoma, Medullary

癌,髓质
  • 文章类型: Journal Article
    背景:甲状腺乳头状癌(PTC)是分化型TC的最常见类型,而髓质TC(MTC)占4%。同时存在PTC和MTC是罕见的。
    方法:这是一个回顾性研究,单中心观察研究进行了16年(2001-2017年)。数据是从比萨大学医院内分泌科-医学部接受全甲状腺切除术的患者的临床记录中收集的,意大利。
    结果:超过690例分析病例,650(94.2%)是排他性DTC,19个独占MTC(2.75%)和5个PTC/MTC(0.7%)。未发现髓质/滤泡性TC混合或遗传性MTC(家族性MTC/多发性内分泌瘤2型)病例。在五个PTC/MTC案例中,有男性患病率(M:F=3:2),所有的PTC组件都处于阶段I,而40%的MTC处于I和III期,20%的MTC处于II期;微PTC(mPTC)普遍存在(80%),微MTC也很常见(40%);60%的MTC患者康复,而40%的患者发展为转移性疾病。搜索RET基因的种系突变导致在所有情况下都是阴性的。
    结论:在过去的30年中,PTC/MTC的发病率一直在增加。PTC/MTC形式的病因仍然未知,虽然这种同时发生可能只是巧合,我们不能排除共同遗传起源的假设。
    Papillary thyroid carcinoma (PTC) is the most common type of differentiated TC, while medullary TC (MTC) accounts for 4%. The concomitant presence of PTC and MTC is rare.
    This is a retrospective, single-center observational study conducted over 16 years (2001-2017). The data were collected from the clinical records of patients who underwent total thyroidectomy at the Endocrine Unit-Department of Medicine of the University Hospital of Pisa, Italy.
    Over 690 analyzed cases, 650 (94.2%) were exclusive DTC, 19 exclusive MTC (2.75%) and 5 PTC/MTC (0.7%). No case of mixed medullary/follicular TC or hereditary MTC (familial MTC/multiple endocrine neoplasia type 2) was found. Among the five PTC/MTC cases, there was a male prevalence (M:F = 3:2), and all PTC components were at stage I, whereas 40% of MTC were at stage I and III and 20% of MTC were at stage II; microPTC (mPTC) was prevalent (80%) and also microMTCs were frequent (40%); 60% of MTC patients recovered, while 40% of patients developed metastatic disease. The search for germline mutations of the RET gene resulted in being negative in all cases.
    The incidence of PTC/MTC has been increasing over the past 30 years. The etiology of PTC/MTC forms is still unknown, and although this simultaneous occurrence could be only a coincidence, we cannot exclude the hypothesis of a shared genetic origin.
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  • 文章类型: Review
    背景:结肠髓样癌是一种罕见的结直肠癌亚型,有时变化,临床和组织学特征。它通常出现在50岁以上的成年患者中。这里,我们报道了一例年轻男性患者的独特病例,最初表现为腹痛,随后出现大肠梗阻。
    方法:一名40岁的斯里兰卡男性出现右侧腹痛,经检查,有一个明显的右髂窝肿块。结肠镜检查和计算机断层扫描显示盲肠肿块。稍后,在等待择期切除的时候,患者出现大肠梗阻的症状和体征。他接受了腹腔镜右半结肠切除术,术后进展顺利。切除标本的组织病理学评估显示具有合胞体生长模式的浸润性癌,淋巴宿主反应的病灶,肮脏的坏死,与髓样癌pT4apN2b保持一致。与大多数报道的髓样癌病例不同,该患者年轻,尾部相关同源异型盒转录因子2阳性.
    结论:我们报道了另一例年轻患者的结肠髓样癌,具有独特的组织学特征。报告此类病例有助于加深对组织学和遗传学的理解,以及临床,结肠髓样癌的表型。
    BACKGROUND: Medullary carcinoma of the colon is a rare subtype of colorectal cancer that has a unique, and sometimes varied, clinical and histologic profile. It usually presents in adult patients older than 50 years. Here, we report a unique case of young male patient who initially presented with abdominal pain followed by a large bowel obstruction.
    METHODS: A 40-year-old SriLankan male presented with right-sided abdominal pain and on examination, there was a palpable right iliac fossa mass. Colonoscopy and a computed tomography scan revealed cecal mass. Later, while waiting for elective resection, the patient developed symptoms and signs of a large bowel obstruction. He underwent a laparoscopic right hemicolectomy with an uneventful postoperative course. The histopathologic evaluation of the resected specimens showed invasive carcinoma with syncytial growth pattern, foci of lymphoid host response, and dirty necrosis, in keeping with a medullary carcinoma pT4a pN2b. Unlike most reported medullary carcinoma cases, this patient was young and caudal-related homeobox transcription factor 2 positive.
    CONCLUSIONS: We have reported another case of medullary carcinoma of the colon in a young patient with unique histologic characteristics. Reporting such cases helps in refine understanding of the histologic and genetic, as well as clinical, phenotypes of medullary carcinoma of the colon.
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  • 文章类型: Review
    肿瘤到肿瘤转移是一种罕见的现象,其中原发性肿瘤细胞转移到其他肿瘤。在这里,我们报道了1例2B型多发性内分泌瘤形成患者中甲状腺髓样癌向副神经节瘤转移的极其罕见病例.根据基因检查,一名36岁女性在24岁时被诊断为多发性内分泌瘤2B型.她有甲状腺髓样癌的甲状腺全切除术和嗜铬细胞瘤的双侧肾上腺切除术的病史,这是在她15岁和29岁的时候进行的,分别。随访计算机断层扫描显示,在左肾旁边有直径为30mm的腹膜后肿瘤,在第6段有直径为16mm的肝肿瘤。腹膜后和肝肿瘤经手术切除并由病理学家检查。组织学检查显示腹膜后肿瘤的经典Zellballen模式,提供副神经节瘤复发的诊断。在肿瘤内部,癌胚抗原呈阳性的白色结节,降钙素呈弱阳性,酪氨酸羟化酶阴性,被鉴定并诊断为具有高恶性潜能的转移性甲状腺髓样癌。肝脏病变被诊断为甲状腺髓样癌的转移。这是甲状腺全切除术20年后多发性内分泌瘤2B型患者甲状腺髓样癌向副神经节瘤的肿瘤转移的首次报道。
    Tumor-to-tumor metastasis is a rare phenomenon in which primary tumor cells metastasize to other tumors. Herein, we report an extremely rare case of tumor-to-tumor metastasis of medullary thyroid carcinoma to a paraganglioma in a patient with multiple endocrine neoplasia type 2B. Based on genetic examination, a 36-year-old woman was diagnosed with multiple endocrine neoplasia type 2B when she was 24 years old. She had a history of total thyroidectomy for medullary thyroid carcinoma and bilateral adrenalectomy for pheochromocytomas, which were performed when she was 15 years and 29 years old, respectively. Follow-up computed tomography demonstrated a retroperitoneal tumor of 30 mm in diameter beside the left kidney and a liver tumor of 16 mm in diameter located in segment 6. The retroperitoneal and liver tumors were surgically resected and examined by a pathologist. Histological examination revealed the classic Zellballen pattern in the retroperitoneal tumor, rendering the diagnosis of a paraganglioma recurrence. Inside the tumor, a white nodule positive for carcinoembryonic antigen, weakly positive for calcitonin, and negative for tyrosine hydroxylase, was identified and diagnosed as a metastatic medullary thyroid carcinoma with high malignant potential. The liver lesion was diagnosed as a metastasis of the medullary thyroid carcinoma. This is the first report of tumor-to-tumor metastasis of medullary thyroid carcinoma to paraganglioma in a patient with multiple endocrine neoplasia type 2B twenty years after total thyroidectomy.
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  • 文章类型: Journal Article
    犬甲状腺癌是犬中相对常见的恶性内分泌肿瘤,来自甲状腺滤泡细胞(形成滤泡性甲状腺癌)或髓样细胞(滤泡旁,C细胞;形成甲状腺髓样癌)。较早和最近的临床研究通常无法区分致密细胞(固体)滤泡性甲状腺癌和髓样甲状腺癌,这可能会扭曲结论。滤泡性甲状腺癌的紧凑亚型似乎是滤泡性甲状腺癌的分化程度最低的亚型,需要与髓样甲状腺癌区分开。这项审查包括有关该标志的信息,介绍,病因,分类,组织学和免疫组织化学诊断,临床管理,犬滤泡癌和髓样癌的生化和遗传紊乱,它们与人类医学有关。
    Canine thyroid carcinomas are relatively common malignant endocrine neoplasms in dogs derived from either thyroid follicular cells (forming follicular thyroid carcinomas) or medullary cells (parafollicular, C-cells; forming medullary thyroid carcinomas). Older and recent clinical studies often fail to discriminate between compact cellular (solid) follicular thyroid carcinomas and medullary thyroid carcinomas, which may skew conclusions. The compact subtype of follicular thyroid carcinomas appears to be the least differentiated subtype of follicular thyroid carcinomas and needs to be differentiated from medullary thyroid carcinomas. This review includes information on the signalment, presentation, etiopathogenesis, classification, histologic and immunohistochemical diagnosis, clinical management, and biochemical and genetic derangements of canine follicular and medullary carcinomas, and their correlates with human medicine.
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  • 文章类型: Journal Article
    甲状腺髓样癌(MTC)是一种罕见的神经内分泌肿瘤,可以是散发性或遗传性的,通常与RET(转染过程中重排)癌基因的突变有关。MTC的主要治疗方法是手术切除所有可疑疾病,但是MTC靶向治疗的最新进展,包括选择性RET抑制剂selpercatinib和pralsetinib,导致了局部晚期患者管理的变化,转移性,或复发性MTC。在这篇文章中,我们回顾了MTC患者评估和管理的最新情况,专注于可能改善患者预后的新兴疗法。
    Medullary thyroid cancer (MTC) is a rare neuroendocrine tumor that can be sporadic or inherited and is often associated with mutations in the RET (Rearranged during Transfection) oncogene. The primary treatment for MTC is surgical resection of all suspected disease, but recent advances in targeted therapies for MTC, including the selective RET inhibitors selpercatinib and pralsetinib, have led to changes in the management of patients with locally advanced, metastatic, or recurrent MTC. In this article, we review updates on the evaluation and management of patients with MTC, focusing on new and emerging therapies that are likely to improve patient outcomes.
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  • 文章类型: Review
    背景:肾髓样癌(RMC)在诊断上具有挑战性,侵袭性原发性肾脏恶性肿瘤与不良生存率相关。诊断延迟导致大多数患者在初次就诊时患有弥漫性转移性疾病。
    方法:我们介绍了一名13岁的非洲裔美国男性,其镰状细胞特征表现为肾脏肿块和血尿。评估包括影像学,流体培养物,和细胞学评估。
    结果:患者根据在皮质活检时从左肾吸出亚厘米液体的细胞学评估被诊断为RMC,怀疑有肾脏肿块。在早期诊断中,额外的液体抽吸与肾活检是非典型但至关重要的步骤。
    结论:流体生物标本的细胞形态学评估目前不是肾肿块患者的标准检查的一部分,但是,当可用时,可以提供关键信息,缩短诊断时间。及时识别症状和开始治疗可能会改善患者的预后。
    BACKGROUND: Renal medullary carcinoma (RMC) is a diagnostically challenging, aggressive primary renal malignancy associated with abysmal survival. Delays in diagnosis contribute to most patients having diffusely metastatic disease at the time of initial presentation.
    METHODS: We present the case of a 13-year-old African American male with sickle cell trait who presented with a renal mass and hematuria. Evaluation included imaging, fluid cultures, and cytologic assessment.
    RESULTS: Patient was diagnosed with RMC based on cytologic assessment of sub-centimeter fluid collections aspirated from the left kidney at the time of cortical biopsy for suspected renal mass. The additional fluid aspiration in conjunction with renal biopsy was an atypical but crucial step in early diagnosis.
    CONCLUSIONS: Cytomorphologic evaluation of fluid biospecimens is not currently part of the standard work-up for patients with renal masses but, when available, can provide crucial information that reduces time to diagnosis. Prompt symptom recognition and treatment initiation may improve patient outcomes.
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  • 文章类型: Journal Article
    甲状腺髓样癌(MTC)是一种罕见的神经内分泌恶性肿瘤,起源于滤泡旁C细胞。虽然不常见,由于其独特的特征以及与其他内分泌肿瘤的特征性关联,对这种癌症的兴趣超过了其发病率。尽管大多数MTC是零星的,遗传性变种单独发生或作为多发性内分泌肿瘤2型综合征(MEN2)的一部分。目前,具有治愈性目的的完整手术切除肿瘤和淋巴结转移仍然是治疗的主要手段.辅助治疗的作用是有限的,尽管放疗和较新的靶向治疗通常用于转移性疾病。在关于最合适的诊断的现有指南中缺乏共识,治疗和随访策略在临床实践中引起了巨大的差异。因此,这篇综述总结了关于MTC管理的最新可用证据和指南,重点是诊断,手术治疗和随访。
    Medullary thyroid carcinoma (MTC) is an uncommon malignancy of neuroendocrine origin derived from the parafollicular C cells. Although infrequent, the interest in this cancer exceeds its incidence owing to its distinctive features and its characteristic association with other endocrine tumors. Although the majority of MTCs are sporadic, hereditary varieties occur in isolation or as a part of multiple endocrine neoplasia type 2 syndrome (MEN 2). Currently, complete surgical resection of the tumor and nodal metastases with a curative intent remains the mainstay of therapy. The role of adjuvant therapy is limited, although radiotherapy and newer targeted therapies are routinely used for metastatic disease. The lack of consensus in the available guidance regarding the most appropriate diagnostic, therapeutic and follow-up strategies has caused substantial variability in clinical practice. Therefore, this review summarizes the latest available evidence and guidelines on the management of MTC with an emphasis on diagnosis, surgical treatment and follow-up.
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  • 文章类型: Journal Article
    散发性或遗传性甲状腺髓样癌(MTC)是一种罕见的甲状腺恶性肿瘤,由分泌降钙素的滤泡旁C细胞引起。有趣的是,MTC和降钙素是独立发现但同时发现的不同实体,他们的联系是未知的。
    这篇综述旨在对我们对MTC及其肿瘤标志物降钙素的理解的演变进行历史回顾,以突出影响和塑造我们对21世纪初这种罕见甲状腺癌类型的认识的杰出个体。对总结MTC和降钙素的重要发现的新研究和工作的所有已发表报告进行了概述。
    手术仍然是治疗局部MTC的基石。然而,对于晚期或转移性MTC,有几种新的治疗方案可用或正在开发中,包括几种靶向致癌RET和肽受体放射性核素治疗的新型小分子,免疫疗法,放射免疫疗法,和射频消融.在不久的将来,这些新颖的治疗方法有望治疗这种非常独特的甲状腺癌。
    Sporadic or hereditary medullary thyroid carcinoma (MTC) is an uncommon thyroid malignancy arising from calcitonin secreting parafollicular C cells. Interestingly, MTC and calcitonin were distinct entities that were discovered independently yet concurrently, and their association was unknown.
    This review aims to present a historical review of the evolution of our understanding of MTC and its tumor marker calcitonin to highlight the prominent individuals that influenced and shaped our knowledge of this uncommon thyroid cancer type up to the dawn of the 21st century. An overview of all published reports of novel research and work summarizing important findings for MTC and calcitonin was carried out.
    Surgery remains the cornerstone of treatment for localized MTC. However, several new treatment options are either available or in development for advanced or metastatic MTC, including several novel small molecules targeting oncogenic RET and peptide receptor radionuclide therapy, immunotherapy, radioimmunotherapy, and radiofrequency ablation. In the near future, these novel treatments hold promise for therapy of this very distinct thyroid cancer type.
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  • 文章类型: Case Reports
    A case is reported of an oncocytic tumor of the thyroid expressing simultaneously follicular and neuroendocrine markers, but not calcitonin. The data reported in the literature and the possible relationships of these lesions with the calcintonin-negative medullary carcinomas were examined.
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  • 文章类型: Journal Article
    Refractory thyroid cancers include radio-iodine-refractory cancers, metastatic or locally advanced unresectable medullary and anaplastic thyroid cancers. Their management has been based for several years on the use of multi-target kinase inhibitors, with anti-angiogenic action, with the exception of anaplastic cancers usually treated with chemo- and radiotherapy. The situation has recently evolved due to the availability of molecular genotyping techniques allowing the discovery of rare but targetable molecular abnormalities. New treatment options have become available, more effective and less toxic than the previously available multi-target kinase inhibitors. The management of refractory thyroid cancers is therefore becoming more complex both at a diagnosis level with the need to know when, how and why to look for these molecular abnormalities but also at a therapeutic level, innovative treatments being hardly accessible. The cost of molecular analyzes and the access to treatments need also to be homogenized because disparities could lead to inequality of care at a national or international level. Finally, the strategy of identifying molecular alterations and treating these rare tumors reinforces the importance of a discussion in a multidisciplinary consultation meeting.
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