Objective: To investigate the clinical presentation, clinicopathologic features, diagnosis and differential diagnosis of adult T cell leukemia/lymphoma (ATLL). Methods: Four cases of ATLL from Fujian Cancer Hospital between October 2017 and May 2018 were analyzed using hematoxylin-eosin and immunohistochemical stains and polymerase chain reaction (PCR) for HTLV-1 provirus genes. The relevant literature was reviewed. Results: There were two males and two females, age range 38-80 years. All patients were from coastal cities of Fujian province. Clinical presentations including lymphadenopathy, hepatomegaly and splenomegaly were detected in most patients; skin lesion, hypercalcemia and lymphocytosis were also commonly detected.Histologically, there was diffuse effacement of the normal architecture by tumor cells infiltration. The inflammatory background is usually sparse, with scanty eosinophils. The atypical lymphoid cells were typically medium to large sized with pronounced nuclear pleomorphism, irregular nuclei, chromatin clumping and prominent nucleoli. Blast-like cells with transformed nuclei were present in variable proportions. Giant cells with convoluted or cerebriform nuclear contours may be present. Rare cases may be composed predominantly of anaplastic tumor cells. Characteristic "flower cells" with large multi-lobated nuclei can be seen. The tumor cells were strongly positive for CD2, CD3, CD5, CD4 and CD25, but negative for CD7, CD8 and cytotoxic molecules (including TIA-1, Granzyme B and perforin). In three cases, the large transformed cells were positive for CD30. In one case, the anaplastic large cells were diffusely and strongly positive for CD30. All cases were negative for EBER, but positive for HTLV-1 provirus. Conclusions: ATLL is a rare type of T cell lymphoma with unique clinical and pathological features, and should be distinguished from peripheral T cell lymphoma, NOS, ALK negative anaplastic large cell lymphoma and mycosis fungoides. Hypercalcemia, systemic disease, characteristic "flower cells" and specific immunophenotypic profile of CD3(+), CD4(+), CD25(+), and CD7(-) are highly suggestive. However, ATLL can only be confirmed if the presence of HTLV-1 provirus.
目的： 探讨成人T细胞白血病/淋巴瘤（adult T cell leukemia/lymphoma，ATLL）的临床表现、病理形态学特征、诊断及鉴别诊断。 方法： 收集福建省肿瘤医院病理科2017年10月至2018年5月诊断的4例ATLL蜡块，采用HE染色、免疫组织化学及聚合酶链反应（PCR）和测序技术，观察组织学特征、免疫表型，检测人类T细胞白血病病毒（HTLV）1前病毒DNA，并结合文献进行复习。 结果： 4例ATLL患者，男性2例，女性2例，年龄38~80岁，均为福建省籍居民。主要临床表现为淋巴结肿大、肝脾肿大、皮肤损害、高钙血症、淋巴细胞增多等。光镜下正常结构完全破坏，不典型淋巴样细胞弥漫浸润，背景中炎性细胞稀少。不典型淋巴细胞中等大至大，具有明显的多形性，核不规则、染色质粗块状，核仁明显，部分病例细胞形态间变，可见特征性分叶状核的"花细胞"。夹杂转化的母细胞，散在伴扭曲或脑回样核的巨细胞。免疫组织化学示肿瘤细胞弥漫一致表达CD2、CD3、CD5、CD4、CD25，不表达CD7、CD8及细胞毒分子。3例仅转化的大细胞表达CD30，1例弥漫表达CD30。4例均为EB病毒编码的小RNA阴性，HTLV-1前病毒阳性。 结论： ATLL是一种少见并具有独特的临床和病理学特征的T细胞肿瘤，应与非特殊型外周T细胞淋巴瘤、间变性淋巴瘤激酶阴性间变性大细胞淋巴瘤、皮肤蕈样霉菌病等鉴别。高钙血症、全身性疾病，特征性"花细胞"，以及免疫表型CD3(+)、CD4(+)、CD25(+)、CD7(-)高度提示为ATLL。HTLV-1前病毒基因检测阳性才可确诊ATLL。.
Keywords: Diagnosis, differential; Human T-lymphotropic virus 1; Hypercalcemia; Leukemia-lymphoma, adult T-cell.