ECE2024 Eposter Presentations Endocrine-Related Cancer (90 abstracts)
MEN2A – unexplored, remains undiscovered
Otilia-Andreea Tarcau 1 , Robu Larisa 1 , Ilona-Beatrice Blesneac 1 , Ingrid-Ioana Stafie 1,2 , Maria Manaila 1 , Nada Akad 1,2 , Anca Matei 1,2 , Maria Christina Ungureanu 1,2 , Grigorovici Alexandru 2,3 , Liliana Gheorghe 2,4 , Gabriela Delia Ciobanu 2,5 , Alexandru Florescu 1,2 & Cristina Preda 1,2
1Saint Spiridon, Endocrinology, Iasi, Romania; 2Grigore T. Popa University of Medicine and Pharmacy, Medicine, Iasi, Romania; 3Saint Spiridon Emergency County Hospital, Surgery, Iasi, Romania; 4Saint Spiridon Emergency County Hospital, Radiology, Iasi, Romania; 5Saint Spiridon Emergency County Hospital, Pathology, Iasi, Romania
Introduction: Multiple endocrine neoplasia type 2A is an autosomal dominant disorder, caused by mutations in the RET proto-oncogene. The genetic testing may help us in the early identification of carriers, and it can guide us on the follow-up and on the treatment. Thus, we can significantly reduce the morbidity and mortality of this syndrome. We will illustrate a case and highlight the importance of follow-up in a MEN2A patient.
Case report: A 41-year-old woman, presented to our clinic for the first time 23 years ago, when she was only 17 years old, to investigate a secondary cause of hypertension. At that moment, her mother was already diagnosed with pheochromocytoma. After explorations, she was also diagnosed with pheochromocytoma, but due to her young age she was fully investigated and she also received the diagnosis of medullary thyroid cancer (MTC). The patient underwent left adrenalectomy, followed by total thyroidectomy. In the following year, MTC receded. The patient underwent another surgical intervention, this time with good results, but in 2005 she was lost from the records. During that time the hypertension reoccured slowly. She got pregnant 5 times. One pregnancy ended with premature birth at 32 weeks. Three pregnancies were lost in the evolution and the last one ended with the intrauterine death of the fetus at 37 weeks – at that point the patient returned to the clinic. Following the fetal extraction intervention, systolic blood pressure increased to 220 mmHg. She was directed to the cardiology service. The increased values of urinary metanephrines - revealed a recurrence of pheochromocytoma. The computed tomography scans showed an inter-hepato-renal tumour mass and two cystic formations on each of the ovaries. After receiving the perioperative management, a surgical intervention was performed, consisting of extraction of all the tumour masses. Histopathological examination confirmed the presence of pheochromocytoma, a mucinous adenoma cyst on the left ovary and a simple cyst on the right ovary. Genetic testing was recommended for the patient and her son and we are waiting for the results.
Discussion: Maybe if the patient had been reevaluated regularly, the outcome of the last pregnancy would have been different.
Conclusion: It is mandatory to fully explore a patient with MTC or pheochromocytoma, due to the possibility of hiding a MEN2A. This requires rigorous follow-up for the patient and in some cases also for the relatives.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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