Department of Diagnostic and Interventional Radiology and Nuclear Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Department of Nuclear Medicine, Hannover Medical School, Hannover, Germany.
Orphanet J Rare Dis. 2021 Jan 14;16(1):29. doi: 10.1186/s13023-021-01672-0.
Diffuse interstitial lung disease have been described in Neurofibromatosis type 1 (NF1), but its diversity and prevalence remain unknown. The aim of this study was to assess the prevalence and characteristics of (NF1)-associated lung manifestations in a large single-center study using multidetector computed tomography (MDCT) and to evaluate the smoking history, patients' age, genetics, and the presence of malignant peripheral nerve sheath tumors (MPNST) as potential influencing factors for lung pathologies.
In this retrospective study, 71 patients with NF1 were evaluated for the presence of distinctive lung manifestations like reticulations, consolidations, type of emphysema, pulmonary nodules and cysts. All patients underwent F-18-FDG PET/CT scans, which were reviewed by two experienced radiologists in consensus. Patients' subgroups were formed based on their smoking history (current smokers/previous smokers/never smokers), age (< 12 years, 12-18 years, > 18 years), and presence of MPNST (MPNST/no MPNST). In 57 patients (80%), genetic analysis of sequences coding for the neurofibromin on chromosome 17 was performed, which was correlated with different lung pathologies.
Among all NF1 patients (33 ± 14 years, 56% females), 17 patients (24%) were current smokers and 62 patients (87%) were > 18 years old. Pulmonary cysts, nodules, and paraseptal emphysema were the most common pulmonary findings (35%, 32%, 30%). The presence of pulmonary metastases, MPNST and centrilobular emphysema was associated with smoking. Cysts were observed only in adults, whereas no significant correlation between age and all other pulmonary findings was found (p > 0.05). Presence of MPNST was accompanied by higher rates of intrapulmonary nodules and pulmonary metastasis. Neither the presence nor absence of any of the specific gene mutations was associated with any particular lung pathology (p > 0.05).
All pulmonary findings in NF1 patients occurred independently from specific mutation subtypes, suggesting that many NF1 mutations can cause various pulmonary pathologies. The presence of pulmonary metastases, MPNST and centrilobular emphysema was associated with smoking, indicating the value of smoking secession or the advice not to start smoking in NF1 patients as preventive strategy for clinicians. For screening of pulmonary manifestations in NF1 patients, an MDCT besides medical history and physical examination is mandatory in clinical routine.
神经纤维瘤病 1 型（NF1）可导致弥漫性间质性肺病，但该病的多样性和患病率尚不清楚。本研究的目的是使用多排螺旋 CT（MDCT）评估大型单中心研究中与 NF1 相关的肺部表现的患病率和特征，并评估吸烟史、患者年龄、遗传学和恶性外周神经鞘肿瘤（MPNST）的存在是否为肺部病变的潜在影响因素。
在这项回顾性研究中，评估了 71 名 NF1 患者是否存在特征性肺部表现，如网状影、实变影、肺气肿类型、肺结节和肺大疱。所有患者均接受 F-18-FDG PET/CT 扫描，由两名有经验的放射科医生进行共识评估。根据患者的吸烟史（当前吸烟者/曾经吸烟者/从不吸烟者）、年龄（<12 岁、12-18 岁、>18 岁）和 MPNST 的存在情况（有/无 MPNST）对患者进行分组。在 57 名（80%）患者中，对染色体 17 上编码神经纤维瘤蛋白的序列进行了基因分析，并与不同的肺部病变相关联。
在所有 NF1 患者（33±14 岁，56%为女性）中，17 名（24%）为当前吸烟者，62 名（87%）>18 岁。肺大疱、结节和胸膜下肺气肿是最常见的肺部表现（35%、32%、30%）。肺转移、MPNST 和中央性肺气肿的存在与吸烟有关。仅在成年患者中观察到肺大疱，而年龄与所有其他肺部表现之间无显著相关性（p>0.05）。MPNST 的存在伴随着更高的肺内结节和肺转移发生率。特定基因突变的存在或不存在均与任何特定的肺部病理无关（p>0.05）。
NF1 患者的所有肺部表现均独立于特定的突变亚型，表明许多 NF1 突变可导致各种肺部病变。肺转移、MPNST 和中央性肺气肿的存在与吸烟有关，这表明对 NF1 患者进行戒烟或劝阻其开始吸烟作为临床医生的预防策略具有重要意义。对于 NF1 患者的肺部表现筛查，在临床常规中除了病史和体检外，还需要进行 MDCT。
