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成年患者肋骨恶性软骨母细胞瘤伴头皮转移:病例报告及分子特征分析

Malignant chondroblastoma of the rib with scalp metastases in an adult patient: case report with molecular characterization.

作者信息

Pena-Burgos Eva Manuela, Agra-Pujol Carolina, Alijo-Serrano Francisco, Lombardía Ferreira Luis, Mediavilla Santos Lydia, Cuervo-Dehesa Miguel, Santos-Briz Ángel, Escalonilla García-Patos Pilar, Tejerizo García Álfonso, Tapia-Viñe Mar, Suárez-González Julia, Pozo-Kreilinger Jose Juan

机构信息

Pathology Department, Gregorio Marañón General University Hospital, Madrid, Spain.

Molecular Diagnostics Unit-Clinical Research Programme-Spanish National Cancer Research Centre, Madrid, Spain.

出版信息

Virchows Arch. 2025 Apr 3. doi: 10.1007/s00428-025-04092-8.

Abstract

Chondroblastomas represent less than 1% of all bone tumors. They are currently classified as benign neoplasms and "benign lung implants" have been described. Exceedingly rare case of malignant chondroblastomas have been published, and only three of them have scalp metastases. We present the case of a 57-year-old healthy man who noticed a rapidly growing mass on his left chest. Radiological imaging revealed an 8 cm expansile and lytic lesion located in the anterior segment of the sixth costal arch with a thinned cortex without periosteal reaction. The tumor was removed with wide margins. Seven years later, he presented with multiple superficial movable lesions on the scalp that were surgically removed. The costal mass was histologically composed of fused nests of discohesive polygonal cells with grooved nuclei, and scattered osteoclast-like giant cells embedded in an eosinophilic chondroid matrix. It presented a permeative growth pattern with entrapped pre-existing bone trabeculae and focal soft tissue extension. Scanty "chicken-wire" calcifications were detected. Moderate atypia and necrotic foci were observed. Occasional non-atypical mitotic figures were also observed. The cutaneous lesions demonstrated the same histopathological findings. Both the metastases and the primary tumor showed diffuse immunoreactivity for anti-histone H3K36M. Molecular study of the H3 histone family member 3B gene demonstrated a p.K37M mutation in exon 2 in the original mass and in the metastasis. Next-generation sequencing did not detect any other molecular alterations in the metastases. Malignant chondroblastomas are extremely rare tumors that most commonly arise in unusual locations, such as the rib or scapula, and in older adults. Permeative growth pattern, soft tissue extension, greater atypia, and higher mitotic rates are histopathological features of malignancy. H3K36M immunoreactivity and H3F3B gene mutations are key to achieving correct diagnosis. Wide resection and close follow-up of patients should be recommended. There is currently no consensus regarding the administration of adjuvant chemotherapy.

摘要

软骨母细胞瘤占所有骨肿瘤的比例不到1%。它们目前被归类为良性肿瘤,并且已有“良性肺植入物”的相关描述。恶性软骨母细胞瘤的病例极为罕见,仅有3例出现头皮转移的报道。我们报告了一例57岁健康男性病例,该患者发现左胸部有一迅速增大的肿块。放射影像学检查显示,在第六肋弓前段有一个8厘米的膨胀性溶骨性病变,皮质变薄,无骨膜反应。肿瘤被广泛切除。七年后,他头皮上出现多个浅表可移动的病变,均通过手术切除。肋骨肿块的组织学表现为融合的巢状不粘连多边形细胞,细胞核有沟,散在的破骨细胞样巨细胞嵌入嗜酸性软骨样基质中。它呈现出浸润性生长模式,包绕着原有的骨小梁,并伴有局部软组织浸润。检测到少量“筛孔状”钙化。观察到中度异型性和坏死灶。还偶尔观察到非异型性有丝分裂象。皮肤病变显示出相同的组织病理学表现。转移灶和原发肿瘤对抗组蛋白H3K36M均表现为弥漫性免疫反应。对H3组蛋白家族成员3B基因的分子研究表明,原发肿块和转移灶的外显子2均存在p.K37M突变。二代测序未在转移灶中检测到任何其他分子改变。恶性软骨母细胞瘤是极其罕见的肿瘤,最常见于不寻常的部位,如肋骨或肩胛骨,且好发于老年人。浸润性生长模式、软组织浸润、更大的异型性和更高的有丝分裂率是恶性肿瘤的组织病理学特征。H3K36M免疫反应性和H3F3B基因突变是做出正确诊断的关键。应建议对患者进行广泛切除并密切随访。目前对于辅助化疗的应用尚无共识。

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