SIX1 as a Novel Immunohistochemical Marker in the Differential Diagnosis of Rhabdomyosarcoma.

IF 0.7 4区 医学 Q4 PATHOLOGY Fetal and Pediatric Pathology Pub Date : 2023-10-01 Epub Date: 2023-05-24 DOI:10.1080/15513815.2023.2214806
Daniel Ehinger, Hanna Frostberg, Sofia Larsson, David Gisselsson
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Abstract

Background: Differential diagnosis of rhabdomyosarcoma (RMS) is challenging. Sineoculis homeobox homolog 1 (SIX1) is an oncogene involved in skeletal muscle differentiation. We compared protein expression patterns of SIX1 in RMS and its most common differential diagnoses. Methods: SIX1 immunohistochemistry in 36 RMS and in 33 tumors from seven differential diagnostic subtypes were evaluated. The fraction of SIX1 positive tumor cells was scored by three independent observers. Results: A majority (75%) of the evaluated RMS expressed SIX1 in at least 50% of tumor cells and all except one RMS had more than 25% positive tumor cells. Neuroblastoma had less than 1% SIX1 positive tumor cells. Gonadoblastoma, malignant rhabdoid tumor, and Ewing sarcoma had 10% or less positive tumor cells. Pleuropulmonary blastoma exhibited 26-50% positive tumor cells and synovial sarcoma >50% positive cells. Conclusion: SIX1 immunohistochemistry is positive in most RMS, and occasionally in some tumors within the differential diagnoses of RMS.

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SIX1作为一种新的免疫组织化学标记物在横纹肌肉瘤鉴别诊断中的应用。
背景:横纹肌肉瘤(RMS)的鉴别诊断具有挑战性。正弦同源框同源物1(SIX1)是一种参与骨骼肌分化的癌基因。我们比较了SIX1在RMS中的蛋白表达模式及其最常见的鉴别诊断。方法:对36例RMS和来自7种不同诊断亚型的33例肿瘤的SIX1免疫组织化学进行评估。由三名独立观察者对SIX1阳性肿瘤细胞的分数进行评分。结果:大多数(75%)评估的RMS在至少50%的肿瘤细胞中表达SIX1,除一个RMS外,所有RMS都有超过25%的阳性肿瘤细胞。神经母细胞瘤的SIX1阳性肿瘤细胞不到1%。性腺母细胞瘤、恶性横纹肌样肿瘤和尤因肉瘤的肿瘤细胞阳性率为10%或更低。胸膜母细胞瘤的肿瘤细胞阳性率为26-50%,滑膜肉瘤的阳性率为>50%。结论:SIX1免疫组化在大多数RMS中呈阳性,在鉴别诊断RMS的某些肿瘤中偶尔也呈阳性。
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来源期刊
CiteScore
3.00
自引率
0.00%
发文量
68
审稿时长
6-12 weeks
期刊介绍: Fetal and Pediatric Pathology is an established bimonthly international journal that publishes data on diseases of the developing embryo, newborns, children, and adolescents. The journal publishes original and review articles and reportable case reports. The expanded scope of the journal encompasses molecular basis of genetic disorders; molecular basis of diseases that lead to implantation failures; molecular basis of abnormal placentation; placentology and molecular basis of habitual abortion; intrauterine development and molecular basis of embryonic death; pathogenisis and etiologic factors involved in sudden infant death syndrome; the underlying molecular basis, and pathogenesis of diseases that lead to morbidity and mortality in newborns; prenatal, perinatal, and pediatric diseases and molecular basis of diseases of childhood including solid tumors and tumors of the hematopoietic system; and experimental and molecular pathology.
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