State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Sun Yat-sen University Cancer Center, Guangzhou, 510060, China.
Department of Molecular Diagnostics, Sun Yat-Sen University Cancer Center, Guangzhou, 510060, China.
Diagn Pathol. 2020 May 12;15(1):53. doi: 10.1186/s13000-020-00940-0.
Chondromesenchymal hamartoma of the chest wall is a rare, benign disease that usually presents at birth or in early infancy. It typically involves one or more ribs, forming a unilateral or bilateral extrapleural mass. Patients may be asymptomatic or complain of mild respiratory distress depending on tumor size and location. To the best of our knowledge, only two of the approximately 100 cases reported so far are adults.
We present two cases of chondromesenchymal hamartoma. The first case involved the left fifth rib in a 24-year-old male, in close proximity to the fifth vertebral body in the left posterior mediastinum, mimicking a posterior mediastinal tumor on imaging. The tumor was excised via thoracoscopy and the patient had an uneventful postoperative course. The second case was that of a 5-month-old boy, who had a tumor involving the left fifth and sixth ribs which caused thoracic cage collapse. Following en bloc resection of the tumor and the involved rib segments, the patient was transferred to the intensive care unit for treatment of pulmonary infection and disseminated intravascular coagulation (DIC). He was discharged from the hospital in stable condition 11 days later. On histopathology, the tumor was found to be a chondromesenchymal hamartoma with immature spindle-shaped mesenchymal cells, plate-like hyaline cartilage, areas of woven bone formation, endochondral ossification and calcification, osteoclastic giant cells, and secondary aneurysmal bone cysts.
Although the presently reported cases have morphological characteristics similar to previously reported ones, they had distinct radiological and clinical characteristics. Patient 1 is only the third report of an adult with chondromesenchymal hamartoma. His case was characterized by its radiological appearance mimicking a posterior mediastinal tumor. Patient 2 represents the first documentation of DIC as a postoperative complication following excision of a chondromesenchymal hamartoma. We present these two cases to provide clinicopathological insights regarding this extremely rare tumor that are relevant to both pathologists and clinicians.
胸壁软骨黏液样纤维瘤是一种罕见的良性疾病，通常在出生时或婴儿早期出现。它通常累及 1 个或多个肋骨，形成单侧或双侧胸膜外肿块。根据肿瘤大小和位置的不同，患者可能无症状或仅表现为轻度呼吸窘迫。据我们所知，迄今为止报告的大约 100 例病例中，只有 2 例为成年人。
我们报告了两例软骨黏液样纤维瘤病例。第 1 例为 24 岁男性，病变位于左侧第 5 肋骨，紧邻左侧后纵隔第 5 椎体，影像学上类似于后纵隔肿瘤。该肿瘤通过胸腔镜切除，患者术后恢复顺利。第 2 例为 5 月龄男婴，肿瘤累及左侧第 5、6 肋骨，导致胸壁塌陷。行肿瘤及受累肋骨节段整块切除后，患儿转入重症监护病房治疗肺部感染和弥漫性血管内凝血（DIC）。11 天后，患儿病情稳定出院。组织病理学检查发现，肿瘤为软骨黏液样纤维瘤，含有不成熟的梭形间叶细胞、板层状透明软骨、编织骨形成区、软骨内成骨和钙化、破骨细胞样巨细胞和继发性动脉瘤样骨囊肿。
尽管目前报告的病例具有与以往报道相似的形态学特征，但它们具有明显不同的影像学和临床表现。患者 1 是第三位报告的成人软骨黏液样纤维瘤病例，其特点是影像学表现类似于后纵隔肿瘤。患者 2 是首例切除软骨黏液样纤维瘤后发生 DIC 的病例。我们报告这两个病例，旨在为病理学家和临床医生提供与这种极其罕见的肿瘤相关的临床病理见解。
