Endocrine Abstracts

Introduction: Phaeochromocytomas are mostly benign tumours with origin from chromaffin tissue of adrenal glands, whereas paragangliomas aretumours located along the sympathetic or/and the parasympathetic chain. Generally they are quite rare neoplasms with ability of producing, storing and secreting of catecholamines. Predominatingly they are sporadic, but in some cases they may develop in progress of particular genetic syndromes, such as multiple endocrine neoplasia type 2 (MEN II), neurofibromatosis type 1 (NF-1), Von Hippel-Lindau disease or Carney’s Syndrome. Different defects in succinate dehydrogenase gene (SDH A, B, C, D) may be also detected. In this paper we would like to present a case of familiar PPGLs.

Case study: 28-year-old woman with history of hypertension diagnosed during pregnancy, persistent after childbirth, was admitted to Chair and Department of Endocrinology of Medical University of Lublin (Poland) with suspicion of phaeochromocytoma. About 28 × 22mm lesion was visualised in right adrenal gland in routine ultrasonography imaging. In CT scannning performed in further stage of diagnostics, focal lesion of right adrenal gland about 37 × 31 mm in diameter and density about 37j.H. was detected, what aroused suspicion of pheochromocytoma. In diurinal urine collection elevated concentration of metanephrines, especially normethanephrine was detected. Patient was successfully operated after pharmacological preparation with doxazosin. Diagnosis of phaeochromocytoma was histopathologically confirmed.

Simultaneously, 18-year-old man, the brother of above woman, was diagnosed with the presence of paraganglioma 56 × 26 × 28 mm in size of left side of his neck. Again elevated concentration of metanephrines, especially normethanephrine were detected in urine. Histopathological assessment after operation confirmed diagnosis of paraganglioma. At contiuous clinical and biochemical observation remain lesions in abdominal cavity of the patient.

Multiple neoplastic lesions originate from chromaffin tissue, present in siblings raise suspicion of familial PPGLs.

Conclusions: Pheochromocytomas and paragangliomas are extremely rare lesions derived from chromaffin-tissue with or without hormonal activity. In about 40 percent of cases, PPGLs are caused by a single driver germ line mutation. According to this data, patients with confirmed genetic mutations not only require more intensified follow-up, but also screening of family members is needed.