Abstract:
Introduction: Multiple endocrine neoplasias (MEN)
are rare and complex autosomal dominant inherited
syndromes caused by germline RET mutation and
characterized by the association of tumors of two or more
endocrine glands in the same patient. It occurs in 1:30000
individuals, and is reported in approximately 500–1000
families worldwide. Sipple syndrome (MEN2A) is
characterized by the association of medullary thyroid
carcinoma (MTC) (in 80-100% of cases), uni- or bilateral
pheochromocytoma (in over 50% of cases) and primary
hyperparathyroidism (15% to 30% of cases) in the same
patient. The diagnosis can be confirmed by imaging
methods and early lab tests (calcitonin, methanephrines).
Genetic confirmation is mandatory when the Sipple
syndrome is suspected. Laparoscopy is the choice of
approach in surgical treatment.
Case report: The patient, a 20-years old with MEN 2A
syndrome, which has been manifested by bilateral
pheochromocytoma and medullary thyroid carcinoma. It was a
familial form, having first degree relatives (mother) with
pheochromocytoma. Genetic testing was not performed due to
the death of the first degree relatives. After a full check-up
(imaging methods, lab tests) adrenal and thyroid gland tumors
were detected. The patient underwent laparoscopic
adrenalectomy on her left in 2015, on the right in 2019 and total
thyroidectomy in 2020. Histopathological examination of the
adrenal glands revealed multicentric alveolar
pheochromocytoma, the thyroid tissue - non-encapsulated
medullary carcinoma. The postoperative evolution is favorable.
She is undergoing hormone replacement therapy. Recent tests
(25.05.20): PTH - 19,3 pg/ml,TSH- 0,2ul/ml, ionic calcium –
1,09 mmol/l, calcitonin decreased from 121 to 18.7 pg/ml.
Conclusions: The radical approach
to MEN 2A syndrome is very important
from both a therapeutic and surgical
point of view. Imaging check-up in
combination with annual monitoring of
calcitonin, chromogranin A, and
metanephrines in a patient with MEN 2A
syndrome is a practical way to supervise
the case and make timely decisions for
surgical intervention and to prevent
complications. If a pheochromocytoma
is detected, adrenalectomy should be
performed before thyroidectomy or other
surgery to avoid intraoperative
catecholamine release. Laparoscopy is
the choice of approach in surgical
treatment. Limitations only arise because
Keywords of technical difficulties or tumor size.
Description:
Surgery Department no 4, „Nicolae Testemitanu” State Medical and Pharmaceutical University, Endocrinology Department, Republican Clinical Hospital, Morphopathology Department, „Nicolae Testemitanu” SMPU, Congresul consacrat aniversării a 75-a de la fondarea Universității de Stat de Medicină și Farmacie „Nicolae Testemițanu” din Republica Moldova, Ziua internațională a științei pentru pace și dezvoltare