Singapore General Hospital, Division of Pathology, Department of Anatomical Pathology, Singapore.
Malays J Pathol. 2020 Apr;42(1):115-119.
Alveolar rhabdomyosarcoma (RMS) usually occurs in adolescents and young adults, and most frequently arises in the extremities.
We present a rare case of metastatic alveolar RMS from a nasal primary to cervical lymph nodes (LNs) in an elderly patient, diagnosed on the fine-needle aspiration (FNA) biopsy. Smears showed malignant round cells featuring focal rhabdoid appearance, with rhabdomyoblastic differentiation further supported by immunocytochemical stains. Diagnosis of alveolar RMS was confirmed by fluorescence in situ hybridization (FISH) identifying FOXO1 gene involvement with dual colour break-apart probes at locus 13q14.
The differential diagnosis for a small round blue cell tumour in the elderly generally includes metastatic small cell carcinoma, lymphoma, malignant melanoma, RMS, desmoplastic small round cell tumour and Ewing's sarcoma/primitive neuroectodermal tumour. Subtle morphological analysis and expression pattern of immunostaining for skeletal muscle differentiation led to the diagnosis of RMS. Cytogenetic testing on the FOXO1 gene rearrangement helps definite subtyping of alveolar RMS.
肺泡横纹肌肉瘤(RMS)通常发生在青少年和年轻成年人中,最常发生在四肢。
我们报告了一例罕见的老年患者鼻腔原发灶转移至颈部淋巴结(LNs)的肺泡 RMS 病例,该病例通过细针穿刺抽吸(FNA)活检诊断。涂片显示恶性圆形细胞具有局灶性横纹肌样外观,免疫细胞化学染色进一步支持横纹肌母细胞分化。通过荧光原位杂交(FISH)鉴定 FOXO1 基因与 13q14 位点的双色分离探针的参与,证实了肺泡 RMS 的诊断。
老年患者的小圆蓝细胞肿瘤的鉴别诊断通常包括转移性小细胞癌、淋巴瘤、恶性黑色素瘤、RMS、促结缔组织增生性小圆细胞肿瘤和尤文肉瘤/原始神经外胚层肿瘤。对骨骼肌分化的免疫染色表达模式的细微形态分析导致了 RMS 的诊断。对 FOXO1 基因重排的细胞遗传学检测有助于明确肺泡 RMS 的亚型。