Pulmonary lymphangioleiomyoma in a patient with multiple endocrine neoplasia Type I

Carnevale, Vincenzo; Romagnoli, Elisabetta; Remotti, Daniele; D'Erasmo, E; Spagna, G; Pisani, David; Rosso, R.; Minisola, Salvatore; Mazzuoli, G. F.

doi:10.1007/bf03350301

Cited by 6 publications

(7 citation statements)

References 7 publications

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“…This effect has been well documented in our previous study 3 and has been observed in the previous analysis of the esophageal leiomyoma from patient 1. 8 When the same tumor T1 was carefully microdissected and analyzed in the present study, 11q13 LOH § LOH data in two esophageal leiomyomata in patient 5 were previously reported, 14 and reanalyzed and confirmed in this study.…”

Section: Resultssupporting

confidence: 57%

“…14 In this study the lung leiomyomata from a single MEN1 patient failed to demonstrate 11q13 LOH with the four markers studied. This may be because of cross-contamination of two tumor This is the first report of MEN1 gene involvement in the etiology of uterine leiomyomata in MEN1 patients.…”

Section: Discussionmentioning

confidence: 56%

“…7,8 Nonendocrine mesenchymal tumors, such as lipomas, angiofibromas, and collagenomas, have also been shown to be associated with MEN1 and MEN1 gene alterations. 8 -10 Leiomyomata have been occasionally documented in MEN1 patients, 8,[11][12][13][14] and loss of heterozygosity (LOH) at the MEN1 locus was recently shown in two esophageal leiomyomata from one MEN1 patient. 15 MEN1 gene inactivation in lung or uterine leiomyomata, however, has not been studied.…”

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confidence: 99%

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Multiple Leiomyomas of the Esophagus, Lung, and Uterus in Multiple Endocrine Neoplasia Type 1

McKeeby

Zhuang

et al. 2001

The American Journal of Pathology

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Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant hereditary disorder characterized by multiple parathyroid, pancreatic, duodenal, and pituitary neuroendocrine tumors. Nonendocrine mesenchymal tumors, such as lipomas, collagenomas, and angiofibromas have also been reported. MEN1-associated neuroendocrine and some mesenchymal tumors have documented MEN1 gene alterations on chromosome 11q13. To test whether the MEN1 gene is involved in the pathogenesis of multiple smooth muscle tumors, we examined the 11q13 loss of heterozygosity (LOH) and clonality patterns in 15 leiomyomata of the esophagus, lung, and uterus from five patients with MEN1. Forty sporadic uterine leiomyomata were also studied for 11q13 LOH. LOH analysis was performed using four polymorphic DNA markers at the MEN1 gene locus; D11S480, PYGM, D11S449, and INT-2. The gene for multiple endocrine neoplasia type 1 (MEN1), an autosomal dominant tumor syndrome, has been mapped to chromosome 11q13 1 and recently identified. 2 The MEN1 gene is thought to act as a tumor suppressor based on the presence of inherited inactivating mutations in the constitutional DNA of affected family members accompanied by the loss of the wild-type allele in associated tumors. 2-4 Somatic inactivation of the MEN1 gene has been also documented in a subset of sporadic counterpart parathyroid, enteropancreatic, and pulmonary endocrine tumors, and mesenchymal tumors. 5 MEN1 patients typically present first with primary hyperparathyroidism resulting from multiple parathyroid tumors caused by MEN1 gene alterations. 6 Neuroendocrine tumors of the pancreas, duodenum, anterior pituitary gland, stomach, and lung are other tumors that are an integral part of MEN1. 7,8 Nonendocrine mesenchymal tumors, such as lipomas, angiofibromas, and collagenomas, have also been shown to be associated with MEN1 and MEN1 gene alterations. 8 -10 Leiomyomata have been occasionally documented in MEN1 patients, 8,[11][12][13][14] and loss of heterozygosity (LOH) at the MEN1 locus was recently shown in two esophageal leiomyomata from one MEN1 patient. 15 MEN1 gene inactivation in lung or uterine leiomyomata, however, has not been studied. To test whether MEN1 gene alterations are involved in the development of multiple smooth muscle tumors in MEN1 patients, we analyzed 15 leiomyomata from five patients with documented MEN1 germline mutations for LOH at the MEN1 gene locus. To assess whether MEN1 gene alterations are present in sporadic smooth muscle tumors, we analyzed 40 sporadic uterine leiomyomata for MEN1 gene deletion for comparison. Furthermore, to evaluate whether MEN1-associated leiomyomata arise as independent clonal events at different anatomical sites within an organ, the patterns of 11q13 LOH in different tumors from individual patients

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Section: Resultssupporting

confidence: 57%

Section: Discussionmentioning

confidence: 56%

mentioning

confidence: 99%

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Multiple Leiomyomas of the Esophagus, Lung, and Uterus in Multiple Endocrine Neoplasia Type 1

McKeeby

Zhuang

et al. 2001

The American Journal of Pathology

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“…parathyroid, PET, pituitary, adrenal). These include both other endocrine tumors (carcinoids of thymus, stomach, lung, rarely intestinal) and nonendocrine tumors [CNS tumors (meningiomas, schwanomas, ependymonas), skin tumors (angiofibromas, collagenomas, lipomas, melanomas) and smooth muscle tumors (leiomyomas, leiomyosarcomas)] 13,14,34,56,66,74,111,131,151,176,195,228,261,274,368,388,390,393,413,428,465 . Of these, particularly thymic carcinoids, which occur primarily in males, occur characteristically later in the MEN1 course (mean age 42–46 years), are generally very aggressive and hence are an increasing cause of death 111,130,131,151,408,413,414,465 .…”

Section: Discussionmentioning

confidence: 99%

“…MEN1 is associated with tumors/hyperplasia of the pituitary, parathyroid, duodenum/pancreas, thyroid or adrenal, however over the last few years a wide spectrum of other tumors are reported with increased frequency in MEN1 195,261,418 . These include the development of carcinoid tumors in a number of locations (thymic [0–8%], gastric [7–35%], bronchial [0–8%], rarely intestinal); dermatological tumors [angiofibromas (88%), collagenomas (72%), lipomas (34%), melanomas]; various tumors of the central and peripheral nervous systems (meningiomas, ependymonas, schwanomas)[0–8%]; and smooth muscle tumors (leiomyomas, leiomyosarcomas) [1–7%] 6,13,14,34,46,48,49,56,66,74,111,131,151,176,195,209,228,261,274,368,371,388,390,393,413,428,465 . These newer tumors show varying degrees of aggressiveness with thymic carcinoids being highly aggressive, gastric and pulmonary carcinoids less commonly aggressive (metastasize <30% of cases), as are most smooth muscle or CNS tumors which rarely metastasize and the skin tumors which all have a benign course, except for the occasional melanoma.…”

Section: Discussionmentioning

confidence: 99%

Causes of Death and Prognostic Factors in Multiple Endocrine Neoplasia Type 1

et al. 2013

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Multiple endocrine neoplasia type 1 (MEN1) is classically characterized by the development of functional or nonfunctional hyperplasia or tumors in endocrine tissues (parathyroid, pancreas, pituitary, adrenal). Because effective treatments have been developed for the hormone excess state, which was a major cause of death in these patients in the past, coupled with the recognition that nonendocrine tumors increasingly develop late in the disease course, the natural history of the disease has changed. An understanding of the current causes of death is important to tailor treatment for these patients and to help identify prognostic factors; however, it is generally lacking.To add to our understanding, we conducted a detailed analysis of the causes of death and prognostic factors from a prospective long-term National Institutes of Health (NIH) study of 106 MEN1 patients with pancreatic endocrine tumors with Zollinger-Ellison syndrome (MEN1/ZES patients) and compared our results to those from the pooled literature data of 227 patients with MEN1 with pancreatic endocrine tumors (MEN1/PET patients) reported in case reports or small series, and to 1386 patients reported in large MEN1 literature series. In the NIH series over a mean follow-up of 24.5 years, 24 (23%) patients died (14 MEN1-related and 10 non-MEN1-related deaths). Comparing the causes of death with the results from the 227 patients in the pooled literature series, we found that no patients died of acute complications due to acid hypersecretion, and 8%–14% died of other hormone excess causes, which is similar to the results in 10 large MEN1 literature series published since 1995. In the 2 series (the NIH and pooled literature series), two-thirds of patients died from an MEN1-related cause and one-third from a non-MEN1-related cause, which agrees with the mean values reported in 10 large MEN1 series in the literature, although in the literature the causes of death varied widely. In the NIH and pooled literature series, the main causes of MEN1-related deaths were due to the malignant nature of the PETs, followed by the malignant nature of thymic carcinoid tumors. These results differ from the results of a number of the literature series, especially those reported before the 1990s. The causes of non-MEN1-related death for the 2 series, in decreasing frequency, were cardiovascular disease, other nonendocrine tumors > lung diseases, cerebrovascular diseases. The most frequent non-MEN1-related tumor deaths were colorectal, renal > lung > breast, oropharyngeal. Although both overall and disease-related survival are better than in the past (30-yr survival of NIH series: 82% overall, 88% disease-related), the mean age at death was 55 years, which is younger than expected for the general population.Detailed analysis of causes of death correlated with clinical, laboratory, and tumor characteristics of patients in the 2 series allowed identification of a number of prognostic factors. Poor prognostic factors included higher fasting gastrin levels, presence of othe...

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Clinical Manifestations of Multiple Endocrine Neoplasia, Type 1

Yuditskaya

Skarulis

2014

Management of Pancreatic Neuroendocrine Tumors

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Pulmonary lymphangioleiomyoma in a patient with multiple endocrine neoplasia Type I

Cited by 6 publications

References 7 publications

Multiple Leiomyomas of the Esophagus, Lung, and Uterus in Multiple Endocrine Neoplasia Type 1

Multiple Leiomyomas of the Esophagus, Lung, and Uterus in Multiple Endocrine Neoplasia Type 1

Causes of Death and Prognostic Factors in Multiple Endocrine Neoplasia Type 1

Clinical Manifestations of Multiple Endocrine Neoplasia, Type 1

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