Rare but Still There: An Interesting Case of Cytokeratin 20-Negative Merkel Cell Carcinoma

罕见但依然存在:一例有趣的细胞角蛋白20阴性默克尔细胞癌病例

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Abstract

Merkel cell carcinoma (MCC) of the skin is a rare and aggressive primary neuroendocrine tumor that mainly involves sun-exposed areas and can metastasize to other parts of the body. Due to varied clinical features and the sharing of similar histological features with other neuroendocrine tumors, diagnosis can be challenging. Therefore, immunohistochemistry plays an important role in diagnosis, and the characteristic perinuclear staining with cytokeratin 20 (CK 20) helps to differentiate it from other morphologically similar tumors, especially metastatic small cell carcinoma of the lung. We describe an interesting case of a 78-year-old female who was referred by a general practitioner (GP) with a few months' history of asymptomatic, rapidly enlarging, erythematous, nodular lesion on her left upper arm. Due to clinical findings and the location of the lesion on the sun-exposed area, wide differential diagnoses were considered. The lesion was excised for histological diagnosis. Surprisingly, morphological features favour the diagnosis of a neuroendocrine tumor. However, histological features including immunohistochemistry rendered it difficult to differentiate between primary cutaneous neuroendocrine carcinoma (Merkel cell CA) and metastatic small cell carcinoma of the lung due to the lack of specific and sensitive marker of CK 20 on immunohistochemistry. Subsequently, the patient had computer tomography of the chest/abdomen and pelvis (CTTAP) and positron emission tomography (PET) scans to rule out underlying primary malignancy. The case was also discussed at local and specialist skin multidisciplinary team meetings (MDT) including neuroendocrine MDT and a consensus diagnosis of Merkel cell carcinoma of the skin with negative CK 20 was established.

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