ECE2022 Eposter Presentations Endocrine-Related Cancer (61 abstracts)
Multiple endocrine neoplasia type 2: About two Tunisian patients
Mnif Fatma , Kawthar El Arbi , Abdelmouhaymen Missaoui , Faten Haj Kacem Akid , Wafa Belabed , Dhoha Ben Salah , Nadia Charfi , Mouna Mnif 1 , Nabila Rekik Majdoub , Mouna Elleuch & Mohamed Abid
Hedi Chaker Hospital, Department of Endocrinology, Sfax, Tunisia
Introduction: Multiple endocrine neoplasia type 2 (MEN2) is a rare inherited disease characterized by the occurrence of medullary thyroid cancer (MTC) either isolated or associated with pheochromocytoma, primary hyperparathyroidism (PHP), or typical morphological features. Thus, we report two cases.
Patient(1): A 27-year-old female patient with a marfanoid appearance, had a histologically confirmed conjunctival and mucosal ganglioneuromatosis, bilateral composite pheochromocytoma (pheochromocytoma and ganglioneuroma) with multifocal and metastatic MTC. MEN2b was strongly suspected. A genetic study showed the presence of a mutation in the exon 16 (codon, M918T), in the heterozygous state, which is the most frequently associated with the MEN2b phenotype.
Patient(2): A 46-year-old female patient presented with a complete MEN2a panel: multifocal CMT, PHP and bilateral pheochromocytoma. In addition, she had hyperpigmented indurated lesions on the upper back following intense pruritus. These lesions are reminiscent of cutaneous amyloid lichen (CAL), a rare clinical variant of 2A. The genetic study is ongoing.
Conclusion: As distinct from MEN1, each variant of MEN2 corresponds to a specific genetic mutation. It is possible to predict the patient’s phenotype from the genetic study. For example, CAL occurs almost exclusively in a proportion of individuals with the codon 634 mutation. Thus clinical examination plays a crucial role in guiding the biomolecular investigation.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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