Massive intrathoracic lipoma in men1 syndrome

Abstract

IntroductionThe multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant syndrome characterized by the onset of hyperparathyroidism, gastroenteropancreatic neuroendocrine tumors and pituitary lesions.Presentation of caseThis appears to be the first described case of a massive intrathoracic lipoma in MEN1. The patient was affected with primary hyperparathyroidism treated with a total parathyroidectomy followed by a distal pancreatectomy for insulinoma. At follow-up, the computed tomography showed a massive lesion on the left emithorax suggestive of a lipoma. At the onset of a mild dyspnea we decided to perform the surgical excision of the mass obtaining a complete relief of the symptoms.DiscussionThis case is evidence of the importance of a strict follow-up of such patients.ConclusionLipomas are the most frequent benign soft tissue tumors. They are usually sporadic but are sometimes related to hereditary syndromes. Intrathoracic localizations are rare and can arise mainly in the mediastinum, bronchus or lung. The diagnosis is often incidental; despite preoperative imaging will accurately show the features of the lesions, it is impossible obtain an accurate diagnosis-hence, the treatment of choice remains the surgical excision.

Multiple endocrine neoplasia type 1 with a frameshift mutation in its gene accompanied by a giant cervical lipoma and multiple fatty deposits in the pancreas: case report

“…Lipoma is occasionally observed in subjects with MEN1; its frequency ranges from 5 to 34 % [ 7 ]. Therefore, we think that a giant cervical lipoma and multiple fatty deposits in the pancreas in this subject were associated with MEN1, although we cannot deny the possibility that there was no association between such alterations and MEN1.…”

“…Such mutation inactivates MEN1 tumor suppressor gene, which is involved in the regulation of DNA replication and repair. In addition, it has been thought that MEN1 gene mutation is also involved in the pathogenesis of less specific MEN1 tumors such as lipomas [ 7 ]. Germline inactivating mutations in the MEN1 gene that encodes menin predispose subjects to develop fatty change and/or tumors in various endocrine organs such as the pancreas and parathyroid [ 8 ].…”

“…Thereby, inactivation of menin in various MEN1-associated endocrine tissues facilitates epigenetic changes which finally leads to fatty change and tumorigenesis. It was also shown that the development of lipomas was associated with cytogenetic aberrations in the 12q13–q15 regions, although it is still controversial whether all are associated with them [ 7 ]. We assume that lipomas in subjects with MEN1 including that in the present subject was associated with cytogenetic aberrations in such regions.…”

Beyond the “3 Ps”: A critical appraisal of the non-endocrine manifestations of multiple endocrine neoplasia type 1

“…Lipomas from MEN1 patients have been shown in multiple reports to have LOH at the MEN1 locus ( 8 , 27 , 59 – 62 ), consistent with a causal relationship with MEN1, and there are no clear genotype-phenotype correlations ( 24 , 25 ). Lipomas in MEN1 patients ( Figure 3 ) are not infrequently multiple and are typically subcutaneous, but they can also be found more deeply and reach large sizes that may require surgical extirpation ( 21 , 63 – 66 ). Lipomas can also be the first clinical manifestation in MEN1 patients, diagnosed as young as 9 years ( 24 , 67 ), but there is not a clear correlation with patient age or disease duration ( 15 ).…”

Approach of Multiple Endocrine Neoplasia Type 1 (MEN1) Syndrome–Related Skin Tumors

“…Lipomas can also be found in association with genetic syndromes including MEN1, Birt-Hogg-Dubé, and Cowden Syndrome. In MEN1 syndrome, lipomas are less frequent than other cutaneous tumors and are often solitary [ 53 , 83 , 84 , 85 , 86 ]. Lipomas were observed in 11 studies according to our research criteria [ 31 , 48 , 49 , 53 , 54 , 57 , 59 , 60 , 69 , 70 , 71 ].…”