原发性骨内纺锤细胞横纹肌肉瘤:罕见部位的病例报告

IF 1.3 4区 医学 Q3 PATHOLOGY Pediatric and Developmental Pathology Pub Date : 2024-06-06 DOI:10.1177/10935266241257547
Jaclyn M Plotzke, Raja Rabah, Dan R Robinson, Amy Edmonds, David A Bloom, Rajen Mody, Amer Heider
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引用次数: 0

摘要

根据世界卫生组织的《软组织和骨肿瘤分类》,纺锤形细胞/硬化性横纹肌肉瘤是横纹肌肉瘤中一种不常见的亚型,其中包括一类新的骨内纺锤形细胞横纹肌肉瘤(ISCRMS),它具有EWSR1::或FUS::TFCP2融合。我们报告了一例伴有 EWSR1::TFCP2融合的骨内纺锤形细胞横纹肌肉瘤(ISCRMS),其股骨部位模仿骨肉瘤这一不寻常的原发部位。我们报告了一例复发的广泛转移性肉瘤病例,患者 18 岁,形态学上与骨肉瘤相同,对化疗反应不佳,最初出现在股骨远端。切片显示这是一种高级别恶性肿瘤,有成片的上皮样和纺锤样细胞,无明显的横纹肌细胞分化,形态上包含类似新骨/类骨质形成的病灶区域。分子测序确定了 t(12;22) EWSR1::TFCP2。通过回顾性免疫组化,肿瘤细胞的泛影角蛋白、MyoD1和ALK呈弥漫阳性。Desmin和SATB2呈局部阳性。肌原蛋白阴性,INI-1表达保留。ISCRMS通常累及颅面部和骨盆骨,但很少像本病例一样起源于长骨。最初,根据长骨远端位置、患者年龄和类骨形成的证据,骨肉瘤是诊断的主要考虑因素。仅从形态学上区分这两种实体几乎是不可能的,在没有分子或大量免疫分析数据的情况下,这就给诊断带来了隐患。
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Primary Intraosseous Spindle Cell Rhabdomyosarcoma: A Case Report in an Unusual Location.

Spindle cell/sclerosing rhabdomyosarcoma is an infrequent subtype of rhabdomyosarcoma according to the World Health Organization Classification of Soft Tissue and Bone Tumours, which includes a novel category of intraosseous spindle-cell rhabdomyosarcomas (ISCRMS) with EWSR1:: or FUS::TFCP2 fusions. We report a case of ISCRMS with EWSR1::TFCP2 fusion presenting in the femur mimicking osteosarcoma in this unusual primary location. We present an 18-year-old male with relapsed widely metastatic sarcoma, morphologically identical to osteosarcoma responding poorly to chemotherapy, initially presenting in the distal femur. Sections showed a high-grade malignant neoplasm with sheets of epithelioid and spindled cells without obvious rhabdomyoblastic differentiation morphologically containing focal areas resembling new bone/osteoid formation. Molecular sequencing identified t(12;22) EWSR1::TFCP2. The tumor cells were diffusely positive for pancytokeratin, MyoD1, and ALK by retrospective immunohistochemistry. Desmin and SATB2 were focally positive. Myogenin was negative, and INI-1 expression was retained. ISCRMS commonly involves craniofacial and pelvic bones, but rarely originates in long bones, as in this case. Initially, osteosarcoma was the primary diagnostic consideration based on distal long bone location, patient age, and evidence of osteoid formation. Distinction between the two entities may be nearly impossible on morphologic grounds alone, which presents a diagnostic pitfall without molecular or extensive immunoprofiling data.

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来源期刊
CiteScore
3.70
自引率
5.30%
发文量
59
审稿时长
6-12 weeks
期刊介绍: The Journal covers the spectrum of disorders of early development (including embryology, placentology, and teratology), gestational and perinatal diseases, and all diseases of childhood. Studies may be in any field of experimental, anatomic, or clinical pathology, including molecular pathology. Case reports are published only if they provide new insights into disease mechanisms or new information.
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