Simultaneous merkel cell carcinoma and acute myeloid leukaemia: A diagnostic challenge.

IF 0.6 4区 医学 Q4 HEMATOLOGY Journal of Hematopathology Pub Date : 2024-12-01 Epub Date: 2024-08-17 DOI:10.1007/s12308-024-00600-y
Juan López-Pérez, Mª Paz Garrastazul-Sánchez, Ana Valenzuela-Caballero, Lidia Atienza-Cuevas, Mª Inmaculada Gardelegui-Pérez, Raquel de la Varga-Martínez
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Abstract

Merkel cell carcinoma is a very aggressive primary skin tumour with a high risk of local recurrences and lymphatic and distant metastases. The frequent association between this carcinoma and other skin tumour and lymphoid malignancies, its similar cellular morphology with leukocytes, and limited infiltration in bone marrow constituted a challenging diagnosis. We report an unusual case of an 82-year-old male who simultaneously presented Merkel cell carcinoma and acute myeloid lymphoma. The diagnosis was established through flow cytometry, immunohistochemical studies and next generation sequencing (NGS) analysis. Flow cytometry allowed for the differentiation of the two cell populations in bone marrow aspirate, which was crucial to the diagnosis of Merkel cell carcinoma and acute myeloid leukaemia (AML), after confirmed by immunohistochemistry. AML could be classified based on NGS results. Following diagnosis, the patient received palliative care and died 50 days later. immunophenotypic analysis by flow cytometry and Immunohistochemical study was crucial to establish the diagnosis of simultaneous affection of Merkel cell carcinoma and hematologic disorder.

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同时患有梅克尔细胞癌和急性髓性白血病:诊断难题。
梅克尔细胞癌是一种侵袭性很强的原发性皮肤肿瘤,局部复发、淋巴转移和远处转移的风险很高。这种癌症经常与其他皮肤肿瘤和淋巴恶性肿瘤相伴,其细胞形态与白细胞相似,骨髓浸润有限,因此诊断极具挑战性。我们报告了一例不寻常的病例,一名 82 岁的男性同时患有梅克尔细胞癌和急性髓系淋巴瘤。诊断是通过流式细胞术、免疫组化研究和新一代测序(NGS)分析确定的。流式细胞术可对骨髓抽吸物中的两种细胞群进行分化,这对梅克尔细胞癌和急性髓系白血病(AML)的诊断至关重要。急性髓性白血病可根据 NGS 结果进行分类。确诊后,患者接受了姑息治疗,50 天后死亡。流式细胞术免疫表型分析和免疫组化研究对确诊梅克尔细胞癌和血液病同时存在至关重要。
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来源期刊
Journal of Hematopathology
Journal of Hematopathology HEMATOLOGYPATHOLOGY-PATHOLOGY
CiteScore
0.80
自引率
0.00%
发文量
45
期刊介绍: The Journal of Hematopathology aims at providing pathologists with a special interest in hematopathology with all the information needed to perform modern pathology in evaluating lymphoid tissues and bone marrow. To this end the journal publishes reviews, editorials, comments, original papers, guidelines and protocols, papers on ancillary techniques, and occasional case reports in the fields of the pathology, molecular biology, and clinical features of diseases of the hematopoietic system. The journal is the unique reference point for all pathologists with an interest in hematopathology. Molecular biologists involved in the expanding field of molecular diagnostics and research on lymphomas and leukemia benefit from the journal, too. Furthermore, the journal is of major interest for hematologists dealing with patients suffering from lymphomas, leukemias, and other diseases. The journal is unique in its true international character. Especially in the field of hematopathology it is clear that there are huge geographical variations in incidence of diseases. This is not only locally relevant, but due to globalization, relevant for all those involved in the management of patients.
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