溃疡性 CRTC1::TRIM11 皮肤肿瘤伴转移。

IF 1.6 4区 医学 Q3 DERMATOLOGY
Calvin Tseng MD, Erica C. Koch Hein MD, Stephen M. Smith MD, Ian King PhD, Sam Saibil MD, Zaid Saeed Kamil MBChB
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引用次数: 0

摘要

CRTC1::TRIM11皮肤肿瘤(CTCT)是一种分化不确定的罕见皮肤肿瘤。在已报道的 49 例病例中,只有 4 例出现区域或远处转移,但随访仍然有限。在此,我们介绍了一例伴有溃疡的转移性 CTCT,这是以前从未描述过的组织学特征。一名 75 岁的男性患者有 2 个月的脚趾溃疡病史,接受了剃须活检,结果显示真皮结节性肿瘤,对 SOX10 和 S100 有免疫反应,Melan-A 阴性,初步诊断为黑色素瘤。在我院进行病理复查时,肿瘤由上皮样细胞和纺锤形细胞的交错束簇和巢组成。免疫组化结果显示,肿瘤对MiTF和NTRK有免疫反应,而对HMB-45和PRAME呈阴性反应。下一代测序确定了 CRTC1::TRIM11 融合,从而修订了 CTCT 诊断。剃须活检 5 个月后,患者接受了脚趾截肢和前哨淋巴结 (SLN) 活检。截肢显示有残留 CTCT 和淋巴管侵犯病灶。前哨淋巴结活检显示多灶性囊下转移。患者开始接受 nivolumab 辅助治疗,切除术后 8 个月,活检证实右侧腹股沟淋巴结复发,影像学检查结果怀疑肺转移。总之,我们介绍了一例 CTCT 伴有溃疡和淋巴管侵犯的病例。我们还提供了更多证据,证明 CTCT 的一部分具有侵袭性。最佳的手术和药物治疗方法尚不清楚。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Ulcerated CRTC1::TRIM11 cutaneous tumor with metastases

Ulcerated CRTC1::TRIM11 cutaneous tumor with metastases

CRTC1::TRIM11 cutaneous tumor (CTCT) is a rare skin tumor of uncertain differentiation. In the 49 reported cases, only four cases showed regional or distant metastasis, but follow-up remains limited. Herein, we present a case of metastatic CTCT with ulceration, a histological feature that has not been previously described. A 75-year-old male with a 2-month history of toe ulceration underwent a shave biopsy, which showed a dermal nodular neoplasm that was immunoreactive for SOX10 and S100, negative for Melan-A, and was initially diagnosed as melanoma. Upon pathology review at our institution, the tumor was composed of intersecting fascicles and nests of epithelioid and spindle cells. Additional immunohistochemistry revealed immunoreactivity of the tumor for MiTF and NTRK and negativity for HMB-45 and PRAME. Next-generation sequencing identified CRTC1::TRIM11 fusion, leading to a revised diagnosis of CTCT. The patient proceeded to a toe amputation and sentinel lymph node (SLN) biopsy 5 months after the shave biopsy. The amputation showed residual CTCT and a focus on lymphovascular invasion. The SLN revealed multifocal subcapsular metastases. The patient was started on adjuvant nivolumab and showed biopsy-proven recurrence in the right inguinal lymph nodes and imaging findings suspicious for pulmonary metastases 8 months after the excision. In summary, we present a case of CTCT with ulceration and lymphovascular invasion. We also provide additional evidence that a subset of CTCT behaves aggressively. The optimal surgical and medical treatments are unknown.

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来源期刊
CiteScore
3.20
自引率
5.90%
发文量
174
审稿时长
3-8 weeks
期刊介绍: Journal of Cutaneous Pathology publishes manuscripts broadly relevant to diseases of the skin and mucosae, with the aims of advancing scientific knowledge regarding dermatopathology and enhancing the communication between clinical practitioners and research scientists. Original scientific manuscripts on diagnostic and experimental cutaneous pathology are especially desirable. Timely, pertinent review articles also will be given high priority. Manuscripts based on light, fluorescence, and electron microscopy, histochemistry, immunology, molecular biology, and genetics, as well as allied sciences, are all welcome, provided their principal focus is on cutaneous pathology. Publication time will be kept as short as possible, ensuring that articles will be quickly available to all interested in this speciality.
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