Mucosal melanoma

粘膜黑色素瘤
  • 文章类型: English Abstract
    背景:原发性喉粘膜黑色素瘤是一种罕见的预后不良的肿瘤。通常很难诊断,应排除皮肤黑色素瘤的喉转移定位。
    方法:我们报告一例65岁男性原发性喉粘膜黑色素瘤,6年前接受放化疗和手术治疗右外侧口咽部鳞状细胞癌。在切除标本上做出原发性喉粘膜黑色素瘤的明确诊断,而在患者监测期间发现的上喉肿块的初始活检结果认为这是已知鳞状细胞癌的喉部复发。
    结论:通过这个案例,我们建议提醒这些肿瘤的主要特征和诊断缺陷。
    BACKGROUND: Primary laryngeal mucosal melanoma is a rare tumour with a poor prognosis. Its often difficult diagnosis should rule out laryngeal metastatic localization of cutaneous melanoma.
    METHODS: We report a case of primary laryngeal mucosal melanoma diagnosed in a 65-year-old man, treated 6 years previously with radio-chemotherapy and surgery for squamous cell carcinoma of the right lateral oropharyngeal region. The definitive diagnosis of primary laryngeal mucosal melanoma was made on the resection specimen, whereas the initial biopsy of the epilaryngeal mass discovered during the patient\'s surveillance had concluded that it was a laryngeal recurrence of the known squamous cell carcinoma.
    CONCLUSIONS: Through this case, we propose to remind the main characteristics and the diagnostic pitfalls of these tumours.
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  • 文章类型: Case Reports
    黑色素瘤导致大多数皮肤癌相关的死亡。尽管有新颖的治疗选择,转移性黑色素瘤的预后仍然较差.免疫检查点抑制(ICI)治疗已被证明可以延长晚期黑色素瘤患者的总体生存期。但是与皮肤来源的黑色素瘤相比,粘膜黑色素瘤的反应较差。我们报告了2020年6月诊断为直肠粘膜黑色素瘤的患者。由于为了实现无瘤状态的外科手术需要切除直肠,我们开始了伊匹单抗和纳武单抗的新辅助全身免疫疗法.作为复诊和结肠镜检查后四个剂量的这种联合免疫疗法显示部分反应,患者决定不进行预先计划的手术,并开始使用纳武单抗进行维持治疗.重复结肠镜检查显示四个剂量的纳武单抗后完全反应。在使用nivolumab进行ICI治疗后,没有肿瘤复发的证据,经过近2年的连续治疗,免疫疗法于2022年7月停止.患者在进一步随访期间保持无瘤。新辅助免疫疗法在晚期黑色素瘤中得到了更多的探索。通过在手术切除基本可手术的肿瘤之前给予ICI治疗,应该实现更强和更多样化的免疫反应。我们报道的病例表明,尽管对免疫疗法的反应通常较低,但这种方法在粘膜黑色素瘤中也可能有效。
    Melanoma causes the majority of skin cancer-related deaths. Despite novel therapy options, metastatic melanoma still has a poor prognosis. Immune checkpoint inhibition (ICI) therapy has been shown to prolong overall survival in patients with advanced melanoma, but mucosal melanomas respond less favorably compared to melanomas of cutaneous origin. We report on a patient with a mucosal melanoma of the rectum diagnosed in June 2020. Since a surgical intervention in order to achieve a tumor-free situation would have required an amputation of the rectum, a neo-adjuvant systemic immunotherapy with ipilimumab and nivolumab was initiated. As restaging and colonoscopy after four doses of this combination immunotherapy showed a partial response, the patient decided against the pre-planned surgery and a maintenance therapy with nivolumab was started. Repeated colonoscopy showed a complete response after four doses of nivolumab. After ongoing ICI therapy with nivolumab and no evidence of tumor relapse, immunotherapy was stopped in July 2022 after nearly 2 years of continuous treatment. The patient remained tumor-free during further follow-up. Neo-adjuvant immunotherapy is getting more explored in advanced melanoma. By administering ICI therapy before surgical resection of an essentially operable tumor, a stronger and more diverse immunological response is supposed to be achieved. Our reported case demonstrates that this approach could also be effective in mucosal melanoma despite of its generally lower response to immunotherapy.
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  • 文章类型: Case Reports
    背景:粘膜黑色素瘤,一种与头颈部常见的皮肤黑色素瘤不同的侵袭性恶性肿瘤,占所有恶性黑色素瘤的<1%。粘膜黑色素瘤的发病机制尚不清楚。在皮肤黑色素瘤中常见的靶向突变,比如在BRAF和NRAS基因中,粘膜黑色素瘤的发病率较低。粘膜黑素瘤携带与皮肤黑素瘤不同的突变模式。切缘阴性的手术是粘膜黑色素瘤的一线治疗,和系统治疗并不明确。Talimoenelaherparepvec,溶瘤病毒免疫疗法,是美国食品和药物管理局批准用于治疗晚期恶性皮肤黑色素瘤,具有局部治疗益处。粘膜黑色素瘤最初被排除在talimogenelaherparepvec的初始III期临床试验之外。
    方法:我们介绍了一名40多岁的白人女性患者,既往有系统性红斑狼疮病史,硬皮病,和雌激素受体阳性浸润性导管癌。双侧乳房切除术后,患者被发现患有BRAF阴性的硬腭粘膜黑色素瘤伴软腭跳跃病变.由于存在跳跃粘膜病变以及预期的缺损和需要游离皮瓣重建手术,考虑非手术治疗.病人被转诊到肿瘤内科,根据患者的复杂病史和免疫治疗的风险,可能使她先前的自身免疫性疾病恶化,选择了局部talimogenelaherparepvec注射作为她的粘膜病变的主要治疗方法。尽管talimogenelaherparepvec被批准用于皮肤黑色素瘤的治疗,关于在粘膜黑素瘤中使用talimogenelaherparepvec的可用数据有限。
    结论:患者在原发病灶以及局部注射后的跳跃病灶均有完全的局部肿瘤反应。她没有副作用,在治疗期间保持了高质量的生活。
    BACKGROUND: Mucosal melanoma, an aggressive type of malignancy different from the cutaneous melanomas commonly seen in the head and neck region, represents < 1% of all malignant melanomas. The pathogenesis of mucosal melanoma is unknown. Targetable mutations commonly seen in cutaneous melanoma, such as in the BRAF and NRAS genes, have a lower incidence in mucosal melanoma. Mucosal melanoma carries a distinct mutational pattern from cutaneous melanoma. Surgery with negative margins is the first-line treatment for mucosal melanoma, and systemic therapy is not well defined. Talimogene laherparepvec, an oncolytic viral immunotherapy, is United States Food and Drug Administration approved for the treatment of advanced malignant cutaneous melanoma, with local therapeutic benefits. Mucosal melanoma was initially excluded from talimogene laherparepvec\'s initial phase III clinical trial.
    METHODS: We present the case of a white female patient in her 40s with past medical history of systemic lupus erythematous, scleroderma, and estrogen-receptor-positive invasive ductal breast carcinoma. Following a bilateral mastectomy, the patient was found to have BRAF-negative mucosal melanoma of her hard palate with a soft palate skip lesion. Owing to the presence of a skip mucosal lesion as well as the anticipated defect and need for free-flap reconstructive surgery, nonsurgical management was considered. The patient was referred to medical oncology, where-based on the patient\'s complicated medical history and the risk of immunotherapy possibly worsening her prior autoimmune diseases-local talimogene laherparepvec injections were chosen as the primary therapy for her mucosal lesions. Though talimogene laherparepvec is approved for the treatment of cutaneous melanoma, there are limited data available on the use of talimogene laherparepvec in mucosal melanomas.
    CONCLUSIONS: The patient had a complete local tumor response at both the primary lesion as well as the skip lesion with the local injections. She had no side effects and maintained a high quality of life during treatment.
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  • 文章类型: Case Reports
    鼻内粘膜黑色素瘤是一种罕见的黑色素瘤。表现为隐匿性恶性肿瘤的特征,进展迅速。表现为非特异性症状。到目前为止,尚未发现具体的危险因素.组织病理学和免疫组织化学检查有助于明确诊断。这里,我们介绍1例原发性鼻内黑色素粘膜黑素瘤并文献复习。
    作者介绍了一名患有原发性右侧鼻内黑色素粘膜黑色素瘤的患者。
    进行了内窥镜上颌骨内侧切除术,患者被联系到肿瘤科进行放疗。
    UNASSIGNED: Intranasal mucosal melanoma is a rare form of melanoma. Presenting as the features of occult malignancy and rapid in its progression. Presented with nonspecific symptoms. So far, no specific risk factor has been identified. The histopathological and immunohistochemical examination helps to confirm the diagnosis. Here, we present a case of primary intranasal melanotic mucosal melanoma and literature review.
    UNASSIGNED: The authors present a patient with primary right intranasal melanotic mucosal melanoma.
    UNASSIGNED: An endoscopic medial maxillectomy was done, and the patient was linked to the oncology department for radiotherapy.
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  • 文章类型: Case Reports
    背景:鼻窦粘膜黑色素瘤(SNMM)是一种罕见但侵袭性的疾病。有自由边缘的手术,在可行的情况下,是治疗的选择。在过去的三十年里,电化学疗法(ECT)已经成为一种局部消融程序,与诊所医生一起表演,用于不同组织学的皮肤和粘膜肿瘤。我们提供了通过新的内窥镜电极进行ECT治疗的病例报告,一名受原发性SNMM影响的老年患者。
    方法:一名88岁的男性,诊断为SNMM(cT4aN0M0)-IV期,在我们机构展示的左鼻窝。症状为鼻出血和完全左鼻塞。他拒绝鼻窦扩大手术和放疗。他接受了肿瘤消积术,然后进行了专门用于症状控制的ECT,有姑息的意图。
    结果:患者在全身麻醉下接受了SNMM减瘤,其次是肿瘤边缘的ECT。手术后,他已经5个月没有症状了,拥有良好的生活质量。通过新的局部切除和边缘的ECT手术控制了局部复发。患者在接下来的4个月内保持无症状。诊断后17个月,患者有轻微的鼻窦疾病症状。因此,他出现了全身性疾病进展。
    结论:根据我们的经验,当延长手术没有治愈意图或不可行时,ECT可用作SNMM症状和局部控制的辅助工具。不出所料,ECT似乎对全身性疾病进展没有任何影响。
    BACKGROUND: Sinonasal Mucosal Melanoma (SNMM) is a rare but aggressive disease. Surgery with free margins, when feasible, is the treatment of choice. In the last three decades, electrochemotherapy (ECT) has emerged as a local ablative procedure, performed with the Cliniporator, for cutaneous and mucosal tumours of different histology. We present a case report of an ECT treatment performed by means of a new endoscopic electrode, on an elderly patient affected by primary SNMM.
    METHODS: An 88-year-old man with a diagnosis of SNMM (cT4aN0M0)-Stage IV, of the left nasal fossa presented at our institution. Symptoms were epistaxis and complete left nasal obstruction. He refused sinonasal extended surgery and radiotherapy. He underwent a tumor debulking followed by ECT exclusively for symptom control, with palliative intent.
    RESULTS: The patient underwent SNMM debulking under general anaesthesia, followed by ECT on tumour margins. After the procedure, he had been free from symptoms for 5 months, with a good quality of life. Local recurrence was controlled with a new local debulking and ECT procedure on margins. The patient remained symptom free for the next 4 months. Seventeen months after diagnosis, the patient is mild symptomatic for sinonasal disease. Therefore, he developed a systemic disease progression.
    CONCLUSIONS: In our experience, ECT can be used as an adjuvant tool for symptom and local control in SNMM when extended surgery is out of curative intent or unfeasible. As expected, ECT does not appear to have any effect on systemic disease progression.
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  • 文章类型: Case Reports
    泌尿生殖道原发性恶性黑色素瘤极为罕见。我们在老年白人女性中出现了两个这样的病例。一名81岁女性,尿潴留和息肉样膀胱肿块,一名72岁女性,严重血尿和尿道骨。经过全面评估,他们最终都被诊断为原发性泌尿生殖道黑色素瘤(肿瘤细胞中SOX10和MART1阳性).在这两种情况下,原位黑色素瘤的存在和其他部位原发性黑色素瘤的不存在与原发性泌尿生殖道黑色素瘤一致.使用PD-1抑制剂进行免疫治疗以及使用新辅助和辅助治疗是有前途的,由于治疗指南尚不明确,总体生存率较低.原发性泌尿生殖道黑素瘤的其他临床报告可以帮助更好地理解并最终治疗它。
    膀胱和泌尿道的原发性黑色素瘤很少见,通常是致命的。它们只占所有黑色素瘤的0.2%,包括皮肤黑素瘤。由于它们的罕见性和缺乏明确的治疗指南,它们可能难以诊断和治疗。我们介绍了两例老年白人妇女,她们在接受手术并分析切除的组织后,意外地被诊断出患有膀胱和泌尿道原发性黑色素瘤。两种组织样本都具有黑色素瘤特有的特征,并且在任何其他器官中都没有癌症,从而使它们成为膀胱和泌尿道的原发性黑色素瘤。目前的手术和化疗治疗方法并没有改善与该疾病相关的生存结果和预后。但是手术前后的治疗以及利用患者自身免疫系统的癌症治疗是有希望的。通过报告这种通常致命疾病的额外临床经验,我们希望将来能够更好地理解和适当地管理它。
    Primary malignant melanoma of the genitourinary tract is extremely rare. We present two such cases in elderly Caucasian females. An 81-year-old female with urinary retention and polypoid urinary bladder mass and a 72-year-old female with gross hematuria and urethral caruncle. After thorough evaluation, they were both eventually diagnosed with primary urogenital melanoma (SOX10 and MART1-positive in tumor cells). In both cases, the presence of melanoma-in-situ and absence of primary melanoma in other sites were consistent with primary urogenital melanoma. Immunotherapy with PD-1 inhibitors and use of neoadjuvant and adjuvant treatment are promising, as treatment guidelines remain unclear and overall survival is low. Additional clinical reporting of primary urogenital melanomas can help in better understanding and ultimately treating it.
    Primary melanomas of the bladder and urinary tract are rare and usually deadly. They represent only 0.2% of all melanomas, including melanomas of skin. They can be difficult to diagnose and treat due to how rare they are and the lack of clear treatment guidelines. We present two cases of elderly Caucasian women who were unexpectedly diagnosed with primary melanoma cancers of the bladder and urinary tract after having surgery and analyzing tissue that was removed. Both tissue samples had features specific to melanoma and there was no cancer in any other organ, thus making them primary melanomas of the bladder and urinary tract. Current treatment approaches with surgery and chemotherapy have not improved the survival outcomes and prognosis associated with this disease, but treatment before and after surgery as well as cancer treatments that harness the person\'s own immune system are promising. By reporting additional clinical experiences of this often fatal disease, we hope it can be better understood and appropriately managed in the future.
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  • 文章类型: Case Reports
    恶性黑色素瘤最常见于皮肤。原发性子宫内膜恶性黑色素瘤相当罕见。其诊断取决于临床特征和病理检查。它通常表现出高度的肿瘤组织学,远处转移的早期发作,和不利的预后。
    在本文中,我们报告一例73岁女性原发性子宫内膜恶性黑色素瘤。该患者否认痣切除史或任何癌症家族史。她因绝经后不规则阴道出血入院,并进行了子宫内膜活检。刮片的病理提示恶性黑色素瘤。随后,她接受了根治性手术。最终病理诊断为原发性子宫内膜恶性黑色素瘤,检测到BRAF基因突变。根据国际妇产科联合会(FIGO)分类,肿瘤分期为IVB。因此,然后她开始辅助化疗。该患者目前正在口服靶向治疗,仍在随访中。
    粘膜黑色素瘤很少见,原发性子宫内膜恶性黑色素瘤是一种罕见的亚型。据我们所知,以前从未报道过源自子宫内膜的恶性黑色素瘤。恶性程度高,易发生早期转移。需要进一步的研究来探索其潜在的发病机制,管理,和结果。
    UNASSIGNED: Malignant melanoma most commonly occurs in the skin. Primary malignant melanoma of endometrium is quite rare. Its diagnosis depends on clinical characteristics and pathological examination. It usually exhibits high degree of tumor histology, early onset of distant metastases, and unfavorable prognoses.
    UNASSIGNED: In this paper, we report a case of a 73-year-old woman with primary malignant melanoma of endometrium. This patient denied a history of nevus removal or any family medical history of cancer. She was admitted to the hospital for irregular vaginal bleeding after menopause and performed an endometrial biopsy. Pathological of the scrapings suggested malignant melanoma. She subsequently underwent a radical surgery. The final pathology diagnosis was primary malignant melanoma of endometrium, and BRAF gene mutation was detected. The tumor staged as IVB according to the International Federation of Gynecology and Obstetrics (FIGO) classification. Thus, she then started adjuvant chemotherapy. This patient is currently on oral targeted therapy and is still being followed up.
    UNASSIGNED: Mucosal melanoma is infrequent, and primary malignant melanoma of endometrial is a rare subtype. To the best of our knowledge, malignant melanoma originating from endometrium has never been reported before. It has a high degree of malignancy and is prone to early metastasis. Further investigations are warranted to explore its underlying pathogenesis, management, and outcomes.
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  • 文章类型: Case Reports
    鼻窦区域的恶性黑色素瘤是一种罕见的肿瘤,由鼻粘膜中的黑素细胞引起,比皮肤型更具侵袭性,预后不良。我们报告了一名60岁的女性,最初的主诉是鼻腔充盈,持续的鼻出血,和鼻骨畸形在过去的两个月。在初级考试中,发现了一个黑色肿块,在切除活检中,病理学家报告了鼻腔鼻窦恶性黑色素瘤,IHC染色后证实。在头颈部的梭形细胞肿瘤中,我们应该意识到粘膜恶性黑色素瘤的鉴别诊断。
    Malignant melanoma of the sinonasal area is a rare tumor that arises from melanocytes in the nasal mucosa and is more aggressive than the cutaneous type with a poor prognosis. We report a 60-year-old female with the initial chief complaint of nasal cavity fullness, continuous epistaxis, and nasal bone deformity in the past two months. In a primary examination, a black mass was found, and in an excisional biopsy, the pathologist reported sinonasal malignant melanoma, which was confirmed after IHC staining. In spindle cell tumors of the head and neck area, we should be aware of mucosal malignant melanoma as a differential diagnosis.
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  • 文章类型: Case Reports
    我们报道了一位66岁的中国女士,她有三个月的餐后呕吐病史,早期饱腹感,厌食症和体重减轻,以及肝肿大和腹水的重要物理发现。胃镜检查显示胃息肉伴胃底色素沉着过度和无色素病变,身体,和近端胃窦,活检在组织学上产生恶性黑色素瘤。CT横断面成像也显示广泛的肝和骨转移。未检测到皮肤或眼部原发性。她接受了ipilimumab和nivolumab的联合治疗,但在两个周期的免疫治疗后出现了肝转移的间隔进展。患者最终在诊断后两个月死亡。
    We report a 66-year-old Chinese lady who presented with a three-month history of postprandial vomiting, early satiety, anorexia and weight loss, and significant physical findings of hepatomegaly and ascites. Gastroscopy revealed gastric polyposis with both hyperpigmented and unpigmented lesions over the gastric fundus, body, and proximal antrum, biopsies of which yielded malignant melanoma histologically. Cross-sectional imaging with CT also demonstrated extensive hepatic and bony metastases. No cutaneous or ocular primary was detected. She was treated with a combination of ipilimumab and nivolumab but developed interval progression of hepatic metastases after two cycles of immunotherapy. The patient eventually succumbed two months after diagnosis.
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  • 文章类型: Journal Article
    头颈部粘膜黑色素瘤是一种罕见且侵袭性的恶性肿瘤,即使在广泛切除后,预后也较差。一名患有硬腭黑色素瘤的76岁男性接受了CO2激光切除术作为保守治疗,以保持其生活质量。乳房肿瘤切除术后六个月,患者无症状,没有肿瘤活动。递归是规则。局部或区域复发发生在任何时间,患者最终死于远处转移。
    Mucosal melanoma of the head and neck is a rare and aggressive malignancy with poor prognosis even after extensive resection. A 76-year-old male with melanoma of the hard palate underwent CO2 laser resection as a conservative treatment to preserve his quality of life. Six months after lumpectomy the patient was asymptomatic and had no tumor activity. Recurrence is the rule. Local or regional relapse occurs at any time and patients eventually die from distant metastasis.
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