Skarsgård Lisa Stenman, Andersson Mattias K, Persson Marta, Larsen Ann-Cathrine, Coupland Sarah E, Stenman Göran, Heegaard Steffen
Department of Surgery, Ostfold Hospital Trust, Fredrikstad, Norway.
Department of Pathology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
BMJ Open Ophthalmol. 2019 Oct 3;4(1):e000362. doi: 10.1136/bmjophth-2019-000362. eCollection 2019.
To describe the clinicopathological and genomic features of nine patients with primary and secondary orbital/ocular manifestations of leukaemia.
All orbital/ocular leukaemic specimens from 1980 to 2009 were collected from the Danish Register of Pathology. In six cases, medical records and formalin-fixed, paraffin-embedded blocks were available. Three cases from the Department of Pathology, Royal Liverpool University Hospital, were also included. Immunophenotypes and MYB oncoprotein expression were ascertained by immunohistochemistry. Genomic imbalances were analysed with comparative genomic hybridisation arrays and oncogene rearrangements with fluorescence in situ hybridisation.
Four patients had B-cell precursor acute lymphoblastic leukaemia (BCP-ALL) and five had acute myeloid leukaemia (AML). Two patients with BCP-ALL and one with AML had primary orbital manifestations of leukaemia. Common symptoms were proptosis, displacement of the eye, and reduced eye mobility in patients with orbital leukaemias and pain, and reduced visual acuity in patients with ocular leukaemias. All patients with primary orbital lesions were alive up to 18 years after diagnosis. All but one patient with secondary ophthalmic manifestations died of relapse/disseminated disease. and were rearranged in BCP-ALL, and and in AML. Genomic profiling revealed quiet genomes (0-7 aberrations/case). The MYB oncoprotein was overexpressed in the majority of cases.
Leukaemias with and without ophthalmic manifestations have similar immunophenotypes, translocations/gene fusions and copy number alterations. Awareness of the clinical spectrum of leukaemic lesions of the eye or ocular region is important to quickly establish the correct diagnosis and commence prompt treatment.
描述9例原发性和继发性白血病眼眶/眼部表现患者的临床病理及基因组特征。
从丹麦病理登记处收集1980年至2009年所有眼眶/眼部白血病标本。6例有病历及福尔马林固定、石蜡包埋块。还纳入了皇家利物浦大学医院病理科的3例病例。通过免疫组织化学确定免疫表型和MYB癌蛋白表达。用比较基因组杂交阵列分析基因组失衡，用荧光原位杂交分析癌基因重排。
4例为B细胞前体急性淋巴细胞白血病（BCP-ALL），5例为急性髓系白血病（AML）。2例BCP-ALL患者和1例AML患者有白血病的原发性眼眶表现。眼眶白血病患者的常见症状为眼球突出、眼球移位和眼球活动度降低，眼部白血病患者有疼痛和视力下降。所有原发性眼眶病变患者在诊断后18年仍存活。除1例有继发性眼部表现的患者外，其他患者均死于复发/播散性疾病。BCP-ALL中 和 发生重排，AML中 和 发生重排。基因组分析显示基因组相对稳定（0-7个畸变/病例）。大多数病例中MYB癌蛋白过表达。
有和无眼部表现的白血病具有相似的免疫表型、易位/基因融合及拷贝数改变。了解眼或眼眶区域白血病病变的临床谱对于快速确立正确诊断并开始及时治疗很重要。
