Department of Pathology, Luzhou People's Hospital, Luzhou, Sichuan, China.
Department of Radiology, Luzhou People's Hospital, Luzhou, Sichuan, China.
Medicine (Baltimore). 2023 Feb 3;102(5):e32767. doi: 10.1097/MD.0000000000032767.
Primary intracranial malignant melanoma (PIMM) is a rare malignant tumor that lacks specific clinical manifestations. Preoperative diagnosis is difficult to differentiate from meningiomas on computed tomography (CT) scans. Magnetic resonance imaging (MRI) usually shows typical characteristics with high signal intensity on T1WI and low signal intensity on T2WI. PIMM is highly invasive, insensitive to chemoradiotherapy, and has a poor prognosis.
A 27-year-old woman was admitted to the hospital with a headache for 10 days. She did not experience nausea, vomiting, dizziness, or any other discomfort. A computerized tomography (CT) scan demonstrated a high-density mass in the left cerebellum with patchy calcification at the posterior edge, and heterogeneous enhancement was observed on a contrast-enhanced scan. MRI revealed typical characteristics of high signal intensity on T1WI and low signal intensity on T2WI. The signal characteristics of FLAIR were similar to those of T2WI, and diffusion-weighted imaging (DWI) sequence showed limited diffusion of the tumor. Magnetic resonance spectroscopy revealed increased choline (Cho) and decreased creatine (Cr) and N-acetyl aspartate (Naa) in the tumor.
The patient underwent tumor resection and postoperative chemoradiotherapy and immunotherapy.
Histological and Immunohistochemistry (IHC) tests confirmed the diagnosis of PIMM. In addition, genetic testing revealed GNAQ gene variation.
No recurrence or complications were observed during the follow-up for 6 months.
PIMM is rare, and its pathological diagnosis should be closely combined with clinical and medical history. GNAQ is a common variant of PIMM and is expected to be a therapeutic target.
原发性颅内恶性黑色素瘤(PIMM)是一种罕见的恶性肿瘤,缺乏特异性的临床表现。术前诊断在 CT 扫描上难以与脑膜瘤相区别。磁共振成像(MRI)通常表现出典型特征,T1WI 呈高信号,T2WI 呈低信号。PIMM 具有高度侵袭性,对放化疗不敏感,预后较差。
一名 27 岁女性因头痛 10 天入院。她没有经历恶心、呕吐、头晕或任何其他不适。计算机断层扫描(CT)显示左小脑高密度肿块,后缘有斑片状钙化,增强扫描可见不均匀强化。MRI 显示 T1WI 呈高信号,T2WI 呈低信号的典型特征。FLAIR 的信号特征与 T2WI 相似,弥散加权成像(DWI)序列显示肿瘤弥散受限。磁共振波谱显示肿瘤中胆碱(Cho)增加,肌酸(Cr)和 N-乙酰天门冬氨酸(Naa)减少。
患者接受了肿瘤切除术和术后放化疗及免疫治疗。
组织学和免疫组织化学(IHC)检查证实了 PIMM 的诊断。此外,基因检测显示 GNAQ 基因突变。
在 6 个月的随访期间未观察到复发或并发症。
PIMM 罕见,其病理诊断应紧密结合临床和病史。GNAQ 是 PIMM 的常见变异,有望成为治疗靶点。