Carlo Zaninetti, Maria Einweg, Alexandra Almann, Adrian Schwarzer
{"title":"转移性黑色素瘤表现为白血病红细胞血膜。","authors":"Carlo Zaninetti, Maria Einweg, Alexandra Almann, Adrian Schwarzer","doi":"10.1111/bjh.19974","DOIUrl":null,"url":null,"abstract":"<p>A 58-year-old male patient presented with abdominal pain, fever and cutaneous bleeding. Routine laboratory tests showed anaemia (haemoglobin concentration: 91.8 g/L), thrombocytopenia (platelet count: 24 × 10<sup>9</sup>/L), haemolysis (haptoglobin: <10 g/L, lactate dehydrogenase: 7380 U/L), evidence of fibrinolysis (D-dimer: 4.1 mg/L, fibrinogen: 0.9 g/L) and acute kidney injury (glomerular filtration rate: 29 mL/min). A suspicion of thrombotic microangiopathy (PLASMIC score 5, intermediate risk) was promptly raised, and a peripheral blood film was performed to search for schistocytes. The blood film showed no evidence of schistocytes, but revealed a leucoerythroblastic reaction with reticulocytes, polychromatic erythroblasts (May–Grünwald–Giemsa staining, 60× objective; bottom left main panel) and coexistence of mature and immature granulocytes (top left). Reticulocytes were also readily detectable by immunofluorescence microscopy with immunostaining of the cytoskeletal protein non-muscular myosin IIa showing typical aggregates (bottom left, inset). A review of patient's medical history revealed a previous diagnosis of malignant melanoma treated with surgery 2 years earlier, with subsequent development of axillary lymph node and lung metastases during treatment with checkpoint inhibitor therapy. At presentation, the patient was receiving a combination chemotherapy with dabrafenib and trametinib targeting the <i>BRAF</i> and <i>MEK</i> genes. Bone marrow metastasis from melanoma was suspected, and a bone marrow aspiration and biopsy were performed. The aspiration revealed a diffuse infiltration of the bone marrow with large, vacuolated cells with large, open-chromatin nuclei and prominent nucleoli (May–Grünwald–Giemsa staining, 60× objective; right main panel). A small proportion of these cells displayed melanin pigment (upper right, inset). The cells were CD45-negative by flow cytometry, confirming their non-haematopoietic origin. A computed tomography scan revealed multiple hepatic metastases. The patient was treated palliative and died few days later.</p><p>The reported case reaffirms the importance of peripheral blood morphology, which can uniquely guide the diagnostic workup even in the era of precision medicine.</p>","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":"206 3","pages":"814"},"PeriodicalIF":3.8000,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/bjh.19974","citationCount":"0","resultStr":"{\"title\":\"Metastatic melanoma presenting with leucoerythroblastic blood film\",\"authors\":\"Carlo Zaninetti, Maria Einweg, Alexandra Almann, Adrian Schwarzer\",\"doi\":\"10.1111/bjh.19974\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p>A 58-year-old male patient presented with abdominal pain, fever and cutaneous bleeding. Routine laboratory tests showed anaemia (haemoglobin concentration: 91.8 g/L), thrombocytopenia (platelet count: 24 × 10<sup>9</sup>/L), haemolysis (haptoglobin: <10 g/L, lactate dehydrogenase: 7380 U/L), evidence of fibrinolysis (D-dimer: 4.1 mg/L, fibrinogen: 0.9 g/L) and acute kidney injury (glomerular filtration rate: 29 mL/min). A suspicion of thrombotic microangiopathy (PLASMIC score 5, intermediate risk) was promptly raised, and a peripheral blood film was performed to search for schistocytes. The blood film showed no evidence of schistocytes, but revealed a leucoerythroblastic reaction with reticulocytes, polychromatic erythroblasts (May–Grünwald–Giemsa staining, 60× objective; bottom left main panel) and coexistence of mature and immature granulocytes (top left). Reticulocytes were also readily detectable by immunofluorescence microscopy with immunostaining of the cytoskeletal protein non-muscular myosin IIa showing typical aggregates (bottom left, inset). A review of patient's medical history revealed a previous diagnosis of malignant melanoma treated with surgery 2 years earlier, with subsequent development of axillary lymph node and lung metastases during treatment with checkpoint inhibitor therapy. At presentation, the patient was receiving a combination chemotherapy with dabrafenib and trametinib targeting the <i>BRAF</i> and <i>MEK</i> genes. Bone marrow metastasis from melanoma was suspected, and a bone marrow aspiration and biopsy were performed. The aspiration revealed a diffuse infiltration of the bone marrow with large, vacuolated cells with large, open-chromatin nuclei and prominent nucleoli (May–Grünwald–Giemsa staining, 60× objective; right main panel). A small proportion of these cells displayed melanin pigment (upper right, inset). The cells were CD45-negative by flow cytometry, confirming their non-haematopoietic origin. A computed tomography scan revealed multiple hepatic metastases. 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引用次数: 0
摘要
男,58岁,腹痛,发热,皮肤出血。常规实验室检查显示贫血(血红蛋白浓度:91.8 g/L)、血小板减少(血小板计数:24 × 109/L)、溶血(接触珠蛋白:10 g/L,乳酸脱氢酶:7380 U/L)、纤维蛋白溶解(d -二聚体:4.1 mg/L,纤维蛋白原:0.9 g/L)和急性肾损伤(肾小球滤过率:29 mL/min)。怀疑血栓性微血管病变(PLASMIC评分5分,中等风险)立即提出,并进行外周血膜检查以寻找血吸虫细胞。血膜未见血吸虫细胞,但显示与网织红细胞、多染红细胞(may - gr nwald - giemsa染色,60×客观;左下主面板)和成熟和未成熟粒细胞共存(左上)。网状细胞也很容易通过免疫荧光显微镜检测到,细胞骨架蛋白非肌球蛋白IIa的免疫染色显示典型的聚集(左下角,插图)。回顾患者的病史,发现2年前曾诊断为恶性黑色素瘤,手术治疗,随后在检查点抑制剂治疗期间发生腋窝淋巴结和肺转移。在就诊时,患者正在接受针对BRAF和MEK基因的达非尼和曲美替尼联合化疗。怀疑黑色素瘤骨髓转移,行骨髓穿刺和活检。骨髓弥漫性浸润,可见大的空泡细胞,细胞核大,染色质开放,核仁突出(may - gr nwald - giemsa染色,60倍物镜;右主面板)。这些细胞中有一小部分显示黑色素(右上,插图)。流式细胞术显示细胞cd45阴性,证实其非造血来源。计算机断层扫描显示多发性肝转移。病人接受姑息治疗,几天后死亡。报告的病例重申了外周血形态学的重要性,即使在精准医学时代,它也可以独特地指导诊断工作。
Metastatic melanoma presenting with leucoerythroblastic blood film
A 58-year-old male patient presented with abdominal pain, fever and cutaneous bleeding. Routine laboratory tests showed anaemia (haemoglobin concentration: 91.8 g/L), thrombocytopenia (platelet count: 24 × 109/L), haemolysis (haptoglobin: <10 g/L, lactate dehydrogenase: 7380 U/L), evidence of fibrinolysis (D-dimer: 4.1 mg/L, fibrinogen: 0.9 g/L) and acute kidney injury (glomerular filtration rate: 29 mL/min). A suspicion of thrombotic microangiopathy (PLASMIC score 5, intermediate risk) was promptly raised, and a peripheral blood film was performed to search for schistocytes. The blood film showed no evidence of schistocytes, but revealed a leucoerythroblastic reaction with reticulocytes, polychromatic erythroblasts (May–Grünwald–Giemsa staining, 60× objective; bottom left main panel) and coexistence of mature and immature granulocytes (top left). Reticulocytes were also readily detectable by immunofluorescence microscopy with immunostaining of the cytoskeletal protein non-muscular myosin IIa showing typical aggregates (bottom left, inset). A review of patient's medical history revealed a previous diagnosis of malignant melanoma treated with surgery 2 years earlier, with subsequent development of axillary lymph node and lung metastases during treatment with checkpoint inhibitor therapy. At presentation, the patient was receiving a combination chemotherapy with dabrafenib and trametinib targeting the BRAF and MEK genes. Bone marrow metastasis from melanoma was suspected, and a bone marrow aspiration and biopsy were performed. The aspiration revealed a diffuse infiltration of the bone marrow with large, vacuolated cells with large, open-chromatin nuclei and prominent nucleoli (May–Grünwald–Giemsa staining, 60× objective; right main panel). A small proportion of these cells displayed melanin pigment (upper right, inset). The cells were CD45-negative by flow cytometry, confirming their non-haematopoietic origin. A computed tomography scan revealed multiple hepatic metastases. The patient was treated palliative and died few days later.
The reported case reaffirms the importance of peripheral blood morphology, which can uniquely guide the diagnostic workup even in the era of precision medicine.
期刊介绍:
The British Journal of Haematology publishes original research papers in clinical, laboratory and experimental haematology. The Journal also features annotations, reviews, short reports, images in haematology and Letters to the Editor.