Occurrence of thymic pathology in two families. Is familial screening justified?

Abstract

The familial occurrence of thymic pathology, even though rare, is widely reported in the literature and mainly concerns cases of familial autoimmune myasthenia gravis. Other less frequent cases of familial occurrence of thymoma, thymic carcinoid and thymic hyperplasia have been described. It seems that the familial occurrence is poorly recorded and thus its prevalence is underestimated. We report two families whose members presented different forms of thymic pathology and discuss the necessity of screening programs in family members of patients presenting a thymic lesion. male patient developed a thymic carcinoma and his sister a thymoma (histological type A according to the WHO classification). In the second case, a female patient and her son presented anterior mediastinal lesions which were proved to be a thymic hyperplasia. In the case of the female patient, the thymic lesion was associated with limb muscle weakness, perhaps in the context of a seronegative myasthenia gravis.