Multiple Endocrine Neoplasia Type 1 Associated with Malignant Lymphoma and Other Complications.

Toshimori, Hirotaka; Okamoto, Masashi; Nakatsuru, Kuninobu; Hidaka, Hiroyuki; Yamaguchi, Hideki; Ushiroda, Yoshihiko; Kisanuki, Atsushi; Tsubouchi, Hirohito; Sumiyoshi, Akinobu; Matsukura, Shigeru

doi:10.2169/internalmedicine.35.849

Cited by 5 publications

(4 citation statements)

References 11 publications

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“…Regarding the patient’s co-existence of MEN1 and lymphoma, there has been a prior case report [15] demonstrating this, and indeed it is an interesting observation. Whilst no known association or mechanism exists in the medical literature, to our knowledge this is only the second case of MEN1 and lymphoma in the same patient.…”

Section: Discussionmentioning

confidence: 57%

Late onset asymptomatic pancreatic neuroendocrine tumor – A case report on the phenotypic expansion for MEN1

Kaiwar

Macklin

Gass

et al. 2017

Hered Cancer Clin Pract

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BackgroundMultiple endocrine neoplasia type 1 (MEN1) is a hereditary cancer syndrome associated with several endocrine as well as non-endocrine tumors and is caused by mutations in the MEN1 gene. Primary hyperparathyroidism affects the majority of MEN1 individuals by age 50 years. Additionally, MEN1 mutations trigger familial isolated hyperparathyroidism. We describe a seemingly unaffected 76-year-old female who presented to our Genetics Clinic with a family history of primary hyperparathyroidism and the identification of a pathogenic MEN1 variant.Case PresentationThe patient was a 76 year-old woman who appeared to be unaffected. She had a family history of a known MEN1 pathogenic variant. Molecular testing for the known MEN1 mutation c.1A > G, as well as, biochemical testing, MRI of the brain and abdomen were all performed using standard methods. Molecular testing revealed our patient possessed the MEN1 pathogenic variant previously identified in her two offspring. Physical exam revealed red facial papules with onset in her seventies, involving her cheeks, nose and upper lip. Formerly, she was diagnosed with rosacea by a dermatologist and noted no improvement with treatment. Clinically, these lesions appeared to be facial angiofibromas. Brain MRI was normal. However, an MRI of her abdomen revealed a 1.5 cm lesion at the tail of the pancreas with normal adrenal glands. Glucagon was mildly elevated and pancreatic polypeptide was nearly seven times the upper limit of the normal range. The patient underwent spleen sparing distal pancreatectomy and subsequent pathology was consistent with a well-differentiated pancreatic neuroendocrine tumor (pNET).ConclusionsAge-related penetrance and variable expressivity are well documented in families with MEN1. It is thought that nearly all individuals with MEN1 manifest disease by age 40. We present a case of late-onset MEN1 in the absence of the most common feature, primary hyperparathyroidism, but with the presence of a pNET and cutaneous findings. This family expands the phenotype associated with the c.1A > G pathogenic variant and highlights the importance of providing comprehensive assessment of MEN1 mutation carriers in families that at first blush may appear to have isolated hyperparathyroidism.

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Section: Discussionmentioning

confidence: 57%

Late onset asymptomatic pancreatic neuroendocrine tumor – A case report on the phenotypic expansion for MEN1

Kaiwar

Macklin

Gass

et al. 2017

Hered Cancer Clin Pract

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“…Recently it is increasingly recognized that MEN1 patients have an increased occurrence of other endocrine and non-endocrine tumors including carcinoid tumors (thymic [0–8%], gastric [7–35%], bronchial [0–8%], rarely intestinal); skin tumors [angiofibromas (88%), collagenomas (72%), lipomas (34%), melanomas]; central nervous system tumors(meningiomas, ependymonas, schwanomas)[0–8%]; and smooth muscle tumors (leiomyomas, leiomyosarcomas) [1–7%] 13,46,48,49,74,131,176,209,228,261,274,354,388,393,413,465 . In other reports small numbers of other tumors are also described, although it is unclear if they are increased in frequency or aggressiveness in MEN1 patients [lymphoma, renal cancer, hematological disorders (thrombotic thrombocytopenic purpura, myeloma), ovarian tumors, gastrointestinal stromal tumors, seminomas, chondrosarcoma, mesothelioma, thymomas] 1,77,84,89,150,214,216,256,312,341,410,432 .…”

Section: Introductionmentioning

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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“…Mutations involving chromosome 11 have been described not only in parathyroid tumours but also in a variety of haemopoietic neoplasms 14 and there is a recent report of a B‐cell lymphoma occurring in a case of MEN1. 15 Our cases are the first report of an association between cutaneous lymphoma and parathyroid adenoma. While this could represent a coincidence of two rare diseases, the conditions may share a link with chromosome 11.…”

Section: Discussionmentioning

confidence: 62%

Two cases of primary hyperparathyroidism associated with primary cutaneous lymphoma

Owen¹,

Blewitt

Harrison³

et al. 2000

British Journal of Dermatology

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Primary hyperparathyroidism has been described previously in association with malignancy, but to our knowledge has not been reported in association with primary cutaneous lymphoma. We report two cases of parathyroid adenoma with primary cutaneous lymphoma, the first in a 42-year-old woman with CD30-negative cutaneous large cell lymphoma, and the second in a 67-year-old man with mycosis fungoides and CD30-positive anaplastic large cell lymphoma.

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Multiple Endocrine Neoplasia Type 1 Associated with Malignant Lymphoma and Other Complications.

Cited by 5 publications

References 11 publications

Late onset asymptomatic pancreatic neuroendocrine tumor – A case report on the phenotypic expansion for MEN1

Late onset asymptomatic pancreatic neuroendocrine tumor – A case report on the phenotypic expansion for MEN1

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

Two cases of primary hyperparathyroidism associated with primary cutaneous lymphoma

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