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原发性肛门直肠恶性黑色素瘤:临床、放射学和病理学相关性研究。

Primary anorectal malignant melanoma: A clinical, radiology and pathology correlation.

机构信息

University Malaya Research Imaging Centre, Department of Biomedical Imaging, Kuala Lumpur, Malaysia.

出版信息

Malays J Pathol. 2020 Dec;42(3):461-467.

Abstract

INTRODUCTION

Primary gastrointestinal melanomas are mucosal malignancies that arise from melanocytes in the oropharynx, rectum, and anus. Anorectal malignant melanoma (ARMM) are exceedingly rare, accounting for less than 1% of all melanomas, 0.1% of all rectal malignancies and 4% of anal malignancies. Diagnosis is frequently delayed as these lesions are often mistaken for haemorrhoids. Histological evaluation with special immunohistochemical stains is often necessary for definitive diagnosis. Due to the aggressive nature, 61% of patients with ARMM would already have lymph node involvement or distant metastases, by the time of diagnosis. Prognosis is usually poor with 5-year survival rate of <20%. We report a case of metastatic ARMM in an elderly lady who presented with symptoms and signs mimicking a haemorrhoid.

CASE REPORT

A 69-year-old lady presented with one year history of intermittent rectal bleed and an anorectal mass that was initially treated as haemorrhoid. Colonoscopy showed a hyperpigmented mass in the anorectal region which was confirmed as malignant melanoma on histopathological examination. Imaging with CT and MRI demonstrated locally advanced tumour with distant metastases to the liver and lung. Patient was referred for palliative management.

CONCLUSION

ARMM is a rare malignancy and often presented with non-specific clinical signs. Diagnosis is frequently delayed without high index of suspicion. MRI pelvis is the imaging of choice to assess local extent of disease. Histologic evaluation with special immunohistochemical stains is often necessary for definitive diagnosis. Prognosis is poor despite surgical and chemotherapeutic interventions.

摘要

简介

原发性胃肠道黑色素瘤是一种黏膜恶性肿瘤,起源于口咽、直肠和肛门的黑色素细胞。肛门直肠恶性黑色素瘤(ARMM)极为罕见,占所有黑色素瘤的不到 1%,所有直肠恶性肿瘤的 0.1%,以及所有肛门恶性肿瘤的 4%。由于这些病变常被误诊为痔疮,因此诊断常常被延误。明确诊断通常需要进行组织学评估,并辅以特殊的免疫组织化学染色。由于其侵袭性,61%的 ARMM 患者在诊断时已经存在淋巴结受累或远处转移。由于预后通常较差,患者的 5 年生存率<20%。我们报告了一例老年女性的转移性 ARMM 病例,其症状和体征类似于痔疮。

病例报告

一名 69 岁女性因间歇性直肠出血和肛门直肠肿块就诊,最初被诊断为痔疮。结肠镜检查显示肛门直肠区域有色素沉着性肿块,组织病理学检查证实为恶性黑色素瘤。CT 和 MRI 成像显示局部晚期肿瘤,并伴有肝和肺远处转移。患者被转介接受姑息治疗。

结论

ARMM 是一种罕见的恶性肿瘤,常表现为非特异性临床体征。由于缺乏高度怀疑,诊断常常被延误。MRI 骨盆是评估疾病局部范围的首选影像学方法。明确诊断通常需要进行组织学评估,并辅以特殊的免疫组织化学染色。尽管进行了手术和化疗干预,预后仍较差。

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