BACKGROUND: Multiple Endocrine Neoplasia type 2B (MEN 2B) is a very rare syndrome characterized by a very peculiar phenotype with mucosal neuromas, marfanoid habitus and bumpy lips associated with medullary thyroid cancer (MTC) and pheocromocytoma (PHEO). Although the syndrome was first described 50 years ago, patients are still diagnosed too late when the MTC is metastatic and, frequently, when the PHEO was already developed. CASES PRESENTATION: We report on 2 cases of MEN 2B that were diagnosed too late, and this delay prevented their cure. The cases involved two females, 25 and 12 years old. Both of them were previously treated for congenital skeletal abnormalities but, despite they had bumpy lips and mucosal neuromas, were not recognized as affected by the MEN 2B syndrome. When they arrived at our observation, both for the presence of thyroid nodules and elevated values of serum calcitonin, the MTC was already metastatic, and the oldest girl had already developed a bilateral PHEO. After 3 years and 1 year of follow up, the two girls are still alive but with a persistent structural and biochemical disease. DISCUSSION: these two cases show that there is still insufficient knowledge of this syndrome and that this lack of knowledge impairs the possibility to perform an early diagnosis and ensure the cure of the disease. Since MEN 2B patients have no familial history in the majority of cases, the only way to have an early diagnosis is to recognize the MEN 2B phenotype on a clinical basis.

Fifty years after the first description, the MEN 2B syndrome diagnosisis still late: description of two recent cases

Elisei R
Primo
;
Matrone A
Secondo
;
Valerio L;Molinaro E;Agate L;Bottici V;Viola D;Giani C;Cappagli V;Latrofa F;Materazzi G;Torregrossa L;Ugolini C;Basolo F;Romei C.
2019

Abstract

BACKGROUND: Multiple Endocrine Neoplasia type 2B (MEN 2B) is a very rare syndrome characterized by a very peculiar phenotype with mucosal neuromas, marfanoid habitus and bumpy lips associated with medullary thyroid cancer (MTC) and pheocromocytoma (PHEO). Although the syndrome was first described 50 years ago, patients are still diagnosed too late when the MTC is metastatic and, frequently, when the PHEO was already developed. CASES PRESENTATION: We report on 2 cases of MEN 2B that were diagnosed too late, and this delay prevented their cure. The cases involved two females, 25 and 12 years old. Both of them were previously treated for congenital skeletal abnormalities but, despite they had bumpy lips and mucosal neuromas, were not recognized as affected by the MEN 2B syndrome. When they arrived at our observation, both for the presence of thyroid nodules and elevated values of serum calcitonin, the MTC was already metastatic, and the oldest girl had already developed a bilateral PHEO. After 3 years and 1 year of follow up, the two girls are still alive but with a persistent structural and biochemical disease. DISCUSSION: these two cases show that there is still insufficient knowledge of this syndrome and that this lack of knowledge impairs the possibility to perform an early diagnosis and ensure the cure of the disease. Since MEN 2B patients have no familial history in the majority of cases, the only way to have an early diagnosis is to recognize the MEN 2B phenotype on a clinical basis.
Elisei, R; Matrone, A; Valerio, L; Molinaro, E; Agate, L; Bottici, V; Viola, D; Giani, C; Cappagli, V; Latrofa, F; Materazzi, G; Torregrossa, L; Ugolini, C; Basolo, F; Romei, C.
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11568/948038
 Attenzione

Attenzione! I dati visualizzati non sono stati sottoposti a validazione da parte dell'ateneo

Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus 11
  • ???jsp.display-item.citation.isi??? ND
social impact