Division of Oncology, Department of Pediatric Surgery, West China Hospital of Sichuan University, Chengdu, 610041, China.
Pediatric Intensive Care Unit, Department of Critical Care Medicine, West China Hospital of Sichuan University, #37# Guo-Xue-Xiang, Chengdu, 610041, China.
Orphanet J Rare Dis. 2019 Jul 5;14(1):165. doi: 10.1186/s13023-019-1147-9.
Kaposiform lymphangiomatosis (KLA) and kaposiform hemangioendothelioma (KHE) are rare and aggressive vascular disorders. The aim of this study was to examine the clinical features and prognosis of KLA and KHE involving the thorax.
The clinical features, imaging and pathological findings, treatments and outcome were retrospectively reviewed for 6 patients with KLA and 7 patients with KHE involving the thorax.
The mean ages at the time of the presentation of signs/symptoms were 26.7 months and 4.1 months for KLA and KHE, respectively. Respiratory symptoms, pericardial and pleural effusion, thrombocytopenia and coagulopathy were common in both KLA and KHE. Diffuse lesions involving the lung and extrathoracic sites were observed in KLA but not in KHE. Histopathologically, all lesions had spindled tumor cells, which were immunoreactive for CD31 and D2-40. In KLA, the spindle cells were distributed in sparse and poorly marginated clusters, whereas the spindle cells formed more defined and confluent vascularized nodules in KHE. Unlike the refractory behavior of KLA, the majority of patients with KHE responded to medical treatments with regression of the lesion and normalization of the hematologic parameters.
The presenting and histological characteristics of KLA can overlap with those of KHE. The presence of diffuse vascular lesions in the mediastinum and lung with refractory thrombocytopenia and coagulopathy should suggest the diagnosis of KLA. Given the rarity and high morbidity and mortality of these disorders, the diagnostic process and therapeutic approach should include a multidisciplinary team review and consensus.
丛状血管瘤病（KLA）和丛状血管瘤内皮细胞瘤（KHE）是罕见且侵袭性的血管疾病。本研究旨在探讨累及胸部的 KLA 和 KHE 的临床特征和预后。
回顾性分析 6 例 KLA 和 7 例 KHE 累及胸部患者的临床特征、影像学和病理学表现、治疗方法和转归。
KLA 和 KHE 出现症状/体征的平均年龄分别为 26.7 个月和 4.1 个月。呼吸症状、心包和胸腔积液、血小板减少和凝血功能障碍在 KLA 和 KHE 中均很常见。KLA 可见弥漫性肺部和胸外病变，但 KHE 中未见。组织病理学上，所有病变均有梭形肿瘤细胞，CD31 和 D2-40 免疫反应阳性。在 KLA 中，梭形细胞呈稀疏、边界不清的簇状分布，而在 KHE 中，梭形细胞形成更明确、更融合的血管性结节。与 KLA 的难治性行为不同，大多数 KHE 患者对药物治疗有反应，病变消退，血液学参数正常。
KLA 的表现和组织学特征可能与 KHE 重叠。弥漫性纵隔和肺部血管病变伴难治性血小板减少和凝血功能障碍应提示 KLA 的诊断。鉴于这些疾病的罕见性、高发病率和死亡率，诊断过程和治疗方法应包括多学科团队的审查和共识。
