Sicolo Elisa, Aprile Vittorio, Ferrarello Tommaso, Bacchin Diana, Mastromarino Maria Giovanna, Alì Greta, Ambrogi Marcello Carlo, Lucchi Marco, Korasidis Stylianos
Thoracis Surgery Division, Cardiac-Vascular and Thoracic Department, University Hospital of Pisa, Pisa, Italy.
Unit of Pathological Anatomy, University Hospital of Pisa, Pisa, Italy.
Mediastinum. 2022 Dec 25;6:39. doi: 10.21037/med-22-8. eCollection 2022.
Mediastinal mass management may represent a real challenge for all the physicians who deal with it. Mediastinum, in fact, contains different vital structures which are often involved by growing neoplasms with increasing severity. Therefore, up to 60% of the patients with mediastinal mass are symptomatic, according to the structure involved. Different neoplasms may arise essentially from all mediastinal organs, whereas thymic epithelial tumors and lymphomas represent more than 90% of mediastinal tumors.
We report the first case described of a giant asymptomatic mediastinal mass in a 43-year-old male affected by Down syndrome (DS), turned out to be a thymoma, treated exclusively and successfully with radical surgery. Despite the absence of any symptoms, the giant thymoma infiltrated the diaphragm, the pericardium, the upper lobe of the left lung together with the left phrenic nerve resulting in the compression of heart and great vessels.
To date, this is the first description of a thymic malignancy in a patient with DS, that usually is characterized by a low-incidence of solid tumor except for germ-cells ones. Surgery has been extremely challenging, due the clinical condition of the patient together with the tumor features; nevertheless, oncological radicality criteria were completely fulfilled. After four years from surgery, the patient is alive and still disease-free, highlighting the importance of radical surgery.
纵隔肿物的处理对所有涉及此领域的医生而言都是一项真正的挑战。事实上，纵隔包含不同的重要结构，这些结构常被不断生长的肿瘤累及，且病情愈发严重。因此，根据受累结构不同，高达60%的纵隔肿物患者会出现症状。不同的肿瘤基本可起源于所有纵隔器官，而胸腺上皮肿瘤和淋巴瘤占纵隔肿瘤的90%以上。
我们报告首例患有唐氏综合征（DS）的43岁男性患者出现巨大无症状纵隔肿物，结果为胸腺瘤，仅通过根治性手术成功治愈。尽管没有任何症状，但巨大胸腺瘤浸润了膈肌、心包、左肺上叶以及左膈神经，导致心脏和大血管受压。
迄今为止，这是首例关于DS患者胸腺恶性肿瘤的描述，DS患者通常除生殖细胞肿瘤外实体瘤发病率较低。由于患者的临床状况以及肿瘤特征，手术极具挑战性；然而，完全满足了肿瘤根治标准。术后四年，患者存活且无疾病复发，凸显了根治性手术的重要性。
