The course of disease and treatment of patient with MEN2A syndrome diagnosed in 9-th week of pregnancy
Aldona Kowalska1, Iwona Palyga1, Danuta Gasior-Perczak1, Piotr Chlosta1, Janusz Sluszniak1, Artur Kowalik1, Jacek Walkowski2 & Stanislaw Gozdz1
Introduction: Diagnosis of pheochromocytoma is rarely established in pregnancy, although can cause threat to health and life of foetus and mother. Exact and early diagnosis is crucial for effective treatment.
Purpose: The purpose of our study is to present a case of patient with pheochromocytoma and medullary thyroid carcinoma (MCT) MEN2A syndrome - diagnosed in 9-th week of pregnancy.
Material and method: Twenty nine-year-old female reported to our hospital for investigation for MEN2A syndrome because of germline mutation of the RET proto-oncogene that had been revealed in patients father. The patient felt healthy subjectively and was in 9-th week of pregnancy. Diagnosis of MEN2A syndrome (bilateral pheochromocytoma and MTC) was established on a base of diagnostic modalities that had been done. On account of the fact that the patient had refused adrenalectomy, decision on deep observation of the patient and postponing the surgery till delivery was made. Because of hypertension the patient had been treated with alpha-blocker since 16-th week of pregnancy with good efficacy.
The pregnancy was terminated by caesarean section in 34-th week of pregnancy. After 4 weeks the patient underwent laparoscopic extirpation of adrenal glands, followed by thyreoidectomy with central and lateral cervical lymph node dissection. Low postoperative basic and stimulated calcitonin concentration indicates oncological radical treatment.
Conclusion: 1) Genetic screening of relatives of patients with MEN2A syndrome can lead to diagnose the disease in asymptomatic state.
2) Careful pharmacological treatment leads to favourable course of pregnancy and outcome in case of our patient.
3) Postponing of the surgery because of MTC, neither had an influence on oncological progression of the disease, nor in worsening the prognosis to our patient.