滤泡树突状细胞肉瘤(FDCS)是滤泡树突状细胞起源的罕见恶性肿瘤,可提出诊断挑战。由于这种肿瘤的罕见,其分子发病机制尚未得到充分阐述。先前的13例病例报告说,38%含有编码与NF-κB负调控有关的蛋白质的基因突变。NF-κB是通过称为规范和非规范途径的多个细胞过程调节的转录因子家族。在这里,我们介绍了一名62岁男子的病例,该男子表现出腹痛和全身症状,并被发现在肝门有肿块。细针抽吸细胞学检查显示梭形细胞肿瘤,具有囊泡染色质和明显的核仁,并混合了淋巴细胞。手术切除显示结节内,7.3×5.5×3.5厘米,由丰满组成的固体物质,纺锤体到组织细胞样细胞卵圆形核和小,突出的核仁排列成轮生和束状。通过免疫组织化学,病变细胞对CD21,CD23和CD35染色呈阳性,与FDCS的诊断一致。下一代测序揭示了参与NF-κB调节途径的三个基因的病理突变:NFKBIA,TNFAIP3和TRAF3。还鉴定了病理性TP53突变。该病例报告支持NF-κB通路失调和FDCS的先前关联。此外,这是首例有TRAF3突变的FDCS病例,也是首例提示同一病变中规范和非规范NF-κB通路均发生破坏的病例.
Follicular dendritic cell sarcoma (FDCS) is a rare malignant neoplasm of follicular dendritic cell origin which can present a diagnostic challenge. Due to the rarity of this neoplasm, its molecular pathogenesis has not been fully elaborated. A previous series of 13 cases reported that 38% contained mutations of genes encoding proteins involved in negative regulation of NF-κB. NF-κB is a family of transcription factors regulated through multiple cellular processes known as the
canonical and noncanonical pathways. Here we present the case of a 62-year-old man who presented with abdominal pain and systemic symptoms and was found to have a mass in the porta hepatis. Fine needle aspiration cytology demonstrated a spindle cell neoplasm with vesicular chromatin and prominent nucleoli with admixed lymphocytes. Surgical resection showed an intranodal, 7.3 × 5.5 × 3.5 cm, solid mass composed of plump, spindle to histiocytoid cells with ovoid nuclei and small, prominent nucleoli arranged in a whorled and fascicular pattern. The lesional cells stained positively for CD21, CD23, and CD35 by immunohistochemistry, consistent with a diagnosis of FDCS. Next-generation sequencing revealed pathologic mutations in three genes involved in NF-κB regulation pathways: NFKBIA, TNFAIP3, and TRAF3. A pathologic TP53 mutation was also identified. This case report supports prior associations of the NF-κB pathway dysregulation and FDCS. Additionally, it is the first reported FDCS case with TRAF3 mutation as well as the first reported case to suggest disruption in both the
canonical and noncanonical NF-κB pathways in the same lesion.