Kelly Mairead, Advani Rajeev, Schuster-Bruce James, Crossley Eleanor, Lakhani Raj
Department of Ear, Nose and Throat Surgery, St George's University Hospitals NHS Foundation Trust, London, UK.
J Surg Case Rep. 2021 Dec 28;2021(12):rjab581. doi: 10.1093/jscr/rjab581. eCollection 2021 Dec.
Myeloid sarcoma, and, with it, Acute Myeloid Leukaemia (AML), is a rare but important differential diagnosis in the consideration of unilateral nasal blockage. These lesions are often misdiagnosed as lymphoma or poorly differentiated carcinoma. We report the case of a patient with unilateral nasal blockage who underwent Endoscopic Sinus Surgery and biopsy. Histology revealed myeloid sarcoma and she was diagnosed with AML. Genetic testing could not be fully undertaken as the biopsy samples were preserved in formalin, which can degrade the quality of the DNA required for the more sensitive fms-like tyrosine kinase 3-internal tandem duplication (FLT3 ITD) test. Given that these levels have a significant impact on treatment decisions, a further biopsy, preserved in saline, was required. This case exemplifies the need for Ear, Nose and Throat clinicians to have a high index of suspicion for this lesion, and a working knowledge of the testing requirements for samples taken.
髓系肉瘤以及与之相关的急性髓系白血病(AML),在考虑单侧鼻阻塞时是一种罕见但重要的鉴别诊断。这些病变常被误诊为淋巴瘤或低分化癌。我们报告一例单侧鼻阻塞患者,该患者接受了鼻内镜手术及活检。组织学检查显示为髓系肉瘤,她被诊断为AML。由于活检样本保存在福尔马林中,无法全面进行基因检测,福尔马林会降低更敏感的fms样酪氨酸激酶3 - 内部串联重复(FLT3 ITD)检测所需DNA的质量。鉴于这些水平对治疗决策有重大影响,因此需要再次进行保存在盐水中的活检。该病例表明,耳鼻喉科临床医生需要对这种病变保持高度怀疑,并了解所取样本的检测要求。