Combination of Multiple Skin Malignancies with Multiple Endocrine Neoplasia Type 1: Coincidental or Pathogenetically Related?

Baldauf, Claudia; Vortmeyer, Alexander O.; Koch, Christian A.; Sticherling, Michael

doi:10.1159/000193058

Cited by 8 publications

(14 citation statements)

References 23 publications

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“…Confluent and reticulated papillomatosis, well-differentiated squamous-cell carcinoma, and superficial spreading malignant melanoma have also been reported in a patient with Wermer syndrome. [10] These cutaneous findings may be helpful in diagnosing patients with MEN-1 syndrome before the onset of endocrine manifestations of the hormone-secreting tumors. [5] The combination of multiple angiofibromas (more than three) and any collagenoma had a relative high sensitivity and excellent specificity and was identified as the best dermatological criterion to identify MEN-1 patients with cutaneous manifestations.…”

Section: Discussionmentioning

confidence: 98%

Neurocutaneous spectrum of multiple endocrine neoplasia-1

Furtado¹,

Ghosal²,

Furtado³

et al. 2012

Indian J Dermatol Venereol Leprol

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Multiple endocrine neoplasia type I or Wermer syndrome is characterized by primary hyperparathyroidism, enteropancreatic endocrine tumor, and a pituitary pathology. A 35-year-old male presented with visual field defects, hyperprolactinemia, and hypogonadism. He also had multiple infraumbilical skin-colored nodules. A syndromal association of Wermer syndrome was derived using the dermal, pituitary, parathyroid, and gastrointestinal hormonal manifestations of the tumor. The radiological and histological findings of lesion which underwent biopsy are discussed. The presence of collagenomas, lipomas, and hypopigmented macules in a patient with neuroendocrine symptoms should raise the suspicion of an underlying multiple endocrine neoplasia.

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Section: Discussionmentioning

confidence: 98%

Neurocutaneous spectrum of multiple endocrine neoplasia-1

Furtado¹,

Ghosal²,

Furtado³

et al. 2012

Indian J Dermatol Venereol Leprol

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“…Recently, we have found that menin inhibits lung cancer cell proliferation and migration via epigenetic repression of PTN signalling [7]. Various skin tumours of mesenchymal origin, including angiofibromas, collagenomas and lipomas, as well as malignant melanoma, were detected in MEN1 syndrome patients [18, 19]. However, until recently, little has been known about the precise role and regulatory mechanism of menin in melanoma.…”

Section: Discussionmentioning

confidence: 99%

“…At present, it is unclear whether menin’s function is associated with melanoma. In patients with MEN1 syndrome, various skin tumours of mesenchymal origin, including angiofibromas, collagenomas and lipomas, as well as malignant melanoma had been reported [18, 19]. Nord et al have found that LOH in 11q13 was detected in six tumours of melanoma, and the deletion including the MEN1 locus in 19 cases of sporadic metastatic melanoma [18].…”

Section: Introductionmentioning

confidence: 99%

Menin represses malignant phenotypes of melanoma through regulating multiple pathways

Gao

Feng

Chen

et al. 2011

Journal of Cellular and Molecular Medicine

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Substantial genetic evidence suggests that chromosome 11q is involved in regulating initiation and progression of malignant melanomas. Mutations of the MEN1 gene, located in chromosome 11q13, predispose individuals to the multiple endocrine neoplasia type 1 (MEN1) familial syndrome. MEN1 patients develop primary malignant melanoma, suggesting a potential link between MEN1 syndrome and development of melanomas, but the precise molecular mechanism is poorly understood. Here we show that the MEN1 gene suppresses malignant phenotypes of melanoma cells through multiple signalling pathways. Ectopic expression of menin, the product of MEN1 gene, significantly inhibited melanoma cell proliferation and migration in vitro and in vivo. The inhibition was partly achieved through suppressing expression of growth factor pleiotrophin (PTN) and receptor protein tyrosine phosphatase (RPTP) β/ζ, accompanied with the reduced expression of phosphatidylinositol 3-kinase (pI3K) and decreased phosphorylation of focal adhesion kinase (FAK) and extracellular signal regulated kinase (ERK1/2). Interestingly, reduced expression of menin was associated with hypermethylation of the CpG islands of the MEN1 promoter in melanoma cells. Taken together, these findings suggest a previously unappreciated function for menin in suppressing malignant phenotypes of melanomas and unravel a novel mechanism involving in regulating PTN signalling by menin in development and progression of melanomas.

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“…Facial angiofibromas are diagnostic of MEN-1 at an early age and may be used for the detection of carriers at an early age within a family that already known to be affected with MEN-1 (6, 11). Melanoma and squamous cell carcinoma may occur coincidentally (13). …”

Section: Multiple Endocrine Neoplasia Type 1 (Men-1)mentioning

confidence: 99%

Hereditary syndromes predisposing to endocrine tumors and their skin manifestations

Stratakis

2016

Rev Endocr Metab Disord

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We often think of the lentiginoses, phacomatoses and other neurocutaneous syndromes as conditions that affect the skin and also predispose to a variety of tumors. However, we rarely think of Peutz-Jeghers syndrome (PJS), Carney complex (CNC), Cowden disease (CD), neurofibromatosis type-1 (NF-1) or tuberous sclerosis (TSC) as conditions that are multiple endocrine neoplasias (MEN). Indeed, all of these conditions predispose to a variety of endocrine tumors, in additions to many other neoplasms. On the other hand, the classic MENs, type 1 and 2 (MEN-1 and MEN-2, respectively) are almost never thought in terms of their skin manifestations. In this review, we present extensively the MEN-1, MEN-2 and PJS syndromes, and briefly refer to CD, NF-1, and TSC. CNC is discussed in another article in this journal issue.

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Combination of Multiple Skin Malignancies with Multiple Endocrine Neoplasia Type 1: Coincidental or Pathogenetically Related?

Cited by 8 publications

References 23 publications

Neurocutaneous spectrum of multiple endocrine neoplasia-1

Neurocutaneous spectrum of multiple endocrine neoplasia-1

Menin represses malignant phenotypes of melanoma through regulating multiple pathways

Hereditary syndromes predisposing to endocrine tumors and their skin manifestations

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