Atypical Multifocal Granular Cell Tumor with FLT3 Y842C Somatic Mutation: A case report and a review of the literature.

Q3 Medicine
Alexandra Zara Rozalen, Ruth Garcia, Samir Husami, Gustavo Marino, Victor E Nava
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Abstract

Introduction: Granular cell tumors (GCT) are predominantly benign neoplasms composed by cells with abundant eosinophilic granular cytoplasm. Although the majority of GCTs exhibit a benign clinical course, a minority display cytological atypia and may exhibit aggressive, cancer-like behavior. Definitive evidence of malignancy in GCTs is reliably established only through the presence of metastasis. Addi- tionally, a subset of GCTs demonstrates a high rate of recurrence, underscoring the need for better prog- nostic markers. Therefore, it is crucial to identify molecular markers associated with aggressive behavior in GCTs. Molecular analysis may be particularly beneficial in cases exhibiting cytological atypia to in- form clinical outcome prognostication and guide therapeutic strategies.

Observation: In this case report, a 45-year-old female with multiple gastrointestinal GCTs is pre- sented. The patient did not have any genetic syndromes commonly associated with GCT, such as neu- rofibromatosis type 1, Noonan syndrome or LEOPARD syndrome. The tumors not only demonstrated nuclear atypia, but also harbored a unique FLT3 Y842C somatic alteration identified by next-genera- tion sequencing. The patient remains asymptomatic and under endoscopic surveillance two years after diagnosis and complete resection of the neoplasms.

Conclusion: We presented an exceedingly rare case of multifocal atypical GCT in an adult without any previously known genetic syndrome. A tumoral FLT3 Y842C point mutation not previously reported in GCT was discovered. Although the precise significance of this finding is uncertain, FLT3 Y842C has been cataloged as likely pathogenic in ClinVar. This report underscores the potential predictive utility of next-generation sequencing in the characterization and management of rare neoplasms.

伴有FLT3 Y842C体细胞突变的非典型多灶性颗粒细胞瘤:病例报告和文献综述。
简介颗粒细胞瘤(GCT)主要是由具有大量嗜酸性颗粒胞质的细胞组成的良性肿瘤。虽然大多数 GCT 的临床表现为良性,但也有少数 GCT 会出现细胞学不典型性,并可能表现出侵袭性的癌症样行为。GCT恶性的确凿证据只有通过出现转移才能可靠地确定。此外,一部分 GCTs 具有很高的复发率,这突出表明需要更好的预后标志物。因此,确定与 GCT 侵袭行为相关的分子标记至关重要。分子分析对细胞学非典型性病例尤其有益,可用于临床结果预后和指导治疗策略:在本病例报告中,预发了一名患有多发性胃肠道 GCT 的 45 岁女性。患者没有任何与 GCT 常见的遗传综合征,如 1 型神经纤维瘤病、努南综合征或 LEOPARD 综合征。肿瘤不仅表现为核不典型性,而且通过新一代测序发现了独特的FLT3 Y842C体细胞改变。患者在确诊并完全切除肿瘤两年后仍无症状,并接受内镜监测:我们介绍了一例极为罕见的成人多灶性非典型 GCT 病例,该病例之前没有任何已知的遗传综合征。我们发现了一种肿瘤FLT3 Y842C点突变,此前在GCT中从未报道过。尽管这一发现的确切意义尚不确定,但FLT3 Y842C已被ClinVar列为可能的致病基因。该报告强调了新一代测序技术在罕见肿瘤的特征描述和管理中的潜在预测作用。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Tunisie Medicale
Tunisie Medicale Medicine-Medicine (all)
CiteScore
1.00
自引率
0.00%
发文量
72
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