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Educational Case: Atypical presentation of primary hyperparathyroidism with brown tumor.

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… The hereditary syndromes associated with primary hyperparathyroidism are multiple endocrine neoplasia type 1 (MEN1), MEN2, MEN4, and hyperparathyroidism jaw tumor syndrome (HPT-JT). … Multiple endocrine neoplasia type 1 Nose V. Erickson L.A. Diagnostic Pathology: Endocrine Third ed. 2023 Elsevier 754 761 57 Erickson L.A. Mete O. Juhlin C.C. …

Rare diseases and orphan drugs: Latvian story.

BackgroundTen years have passed since Latvia became a Member State of the EU in 2004. As a result European regulations, including those related to rare diseases and orphan drugs, have been applied to Latvian legislative system. Orphan diseases have been recognized as a priority area for action in the public health system, though there are significant differences in the national healthcare services for rare diseases among the EU States. This study aims to determine situation in the field of rare diseases in Latvia and compare it with other European countries.MethodsWe used the national plan for

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… Burkitt’s lymphoma, Langerhans cell histiocytosis, Mantle-cell non-Hodgkin’s lymphoma, multiple endocrine neoplasia, Ewing’s sarcoma, Wilms’ tumour, Waldenstrom’s macroglobulinaemia and others can be treated in this hospital as well. … Center of endocrinology of PSCUH has created several data bases of patients with rare endocrine diseases, such as acromegaly, Cushing’s disease, and MEN (multiple endocrine neoplasia) syndrome [ 8 ]. …

CAR-T therapy for neuroendocrine neoplasms: a review of molecular targets and clinical translation.

Neuroendocrine neoplasms (NENs) represent a heterogeneous group of malignancies. In metastatic and progressive forms, standard therapies are often ineffective. CAR-T therapy, which has demonstrated remarkable efficacy in hematologic malignancies, is considered a promising approach for NEN treatment, despite significant barriers inherent to solid tumors. This review aims to comprehensively analyze and systematize current scientific data on the development of CAR-T therapy for NENs of various origins. It focuses on relevant molecular targets, preclinical findings demonstrating the efficacy and s

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… In 10–20% of cases, pancreatic NENs may be associated with genetically determined hereditary syndromes, such as multiple endocrine neoplasia type 1 (MEN1), von Hippel-Lindau syndrome, neurofibromatosis type 1, tuberous sclerosis, and glucagon cell hyperplasia and neoplasia ( 20 ). … Duplication of the mutant RET allele in trisomy 10 or loss of the wild-type allele in multiple endocrine neoplasia type 2-associated pheochromocytomas. Cancer Res. (2000) 60:6223–6. 71. Raue F, Frank-Raue K. Long-term follow-up in medullary thyroid carcinoma patients. …

Peroxisome Proliferator-Activated Receptors (PPAR)γ Agonists as Master Modulators of Tumor Tissue.

In most clinical trials, thiazolidinediones do not show any relevant anti-cancer activity when used as mono-therapy. Clinical inefficacy contrasts ambiguous pre-clinical data either favoring anti-tumor activity or tumor promotion. However, if thiazolidinediones are combined with additional regulatory active drugs, so-called 'master modulators' of tumors, i.e., transcriptional modulators, metronomic low-dose chemotherapy, epigenetically modifying agents, protein binding pro-anakoinotic drugs, such as COX-2 inhibitors, IMiDs, etc., the results indicate clinically relevant communicative reprogram

Non-diabetic hypoglycemia: bridging gaps in diagnosis and treatment: a position statement report by the Arabic Association for the Study of Diabetes and Metabolism (AASD).

BACKGROUND: Non-diabetic hypoglycemia presents a substantial diagnostic challenge due to its diverse and often nonspecific symptomatology. The resultant delay in diagnosis can lead to a myriad of misdiagnoses. This misidentification not only prolongs patient suffering but also elevates the risk of severe complications, such as permanent neurologic damage and mortality. Recognizing the clinical nuances of non-diabetic hypoglycemia is paramount for timely and accurate diagnosis, which ultimately enhances patient outcomes and safety. MAIN BODY: A position statement has been formulated by the Ara

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… Most tumors are pancreatic, with 3% being ectopic (often duodenal), 40% smaller than 1 cm, and 4% associated with multiple endocrine neoplasia type 1 (MEN-1) syndrome. It is slightly more common in women, typically presenting in the fifth decade. … Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1). J Clin Endocrinol Metab. 2012;97(9):2990–3011. 13. Mazziotti G, Floriani I, Bonadonna S, Torri V, Chanson P, Giustina A. Effects of somatostatin analogs on glucose homeostasis: a metaanalysis of acromegaly studies. …

Acute organ failure and risk of admission to intensive medical care in cancer patients: a single center prospective cohort study.

ObjectiveTo ascertain the cumulative incidence of acute organ failure and intensive care unit admission in cancer patients.MethodsThis was a single-center prospective cohort study of adult cancer patients admitted for unscheduled inpatient care while on systemic cancer treatment.ResultsBetween August 2018 and February 2019, 10,392 patients were on systemic treatment, 358 had unscheduled inpatient care and were eligible for inclusion, and 285 were included. The mean age was 60.9 years, 50.9% were male, and 17.9% of patients had hematologic cancers. The cumulative risk of acute organ failure was

Concurrent chronic lymphocytic leukemia and primary hyperparathyroidism in a mule.

A 26-year-old mule gelding was evaluated for chronic weight loss and decreased appetite. The mule had been losing weight and intermittently hypophagic for approximately 7 months. Laboratory analysis of whole blood and plasma identified severe total hypercalcemia, marked hypophosphatemia, markedly increased parathyroid hormone concentration, and marked lymphocytosis. A sestimibi scan intended to identify parathyroid gland tissue was nondiagnostic. Results of flow cytometry and PCR for antigen receptor rearrangement (PARR) were consistent with a B cell lymphoproliferative disorder, likely chroni

Von Hippel-Lindau Disease: Current Challenges and Future Prospects.

Understanding of molecular mechanisms of tumor growth has an increasing impact on the development of diagnostics and targeted therapy of human neoplasia. In this review, we summarize the current knowledge on molecular mechanisms and their clinical implications in von Hippel-Lindau (VHL) disease. This autosomal dominant tumor syndrome usually manifests in young adulthood and predisposes affected patients to the development of benign and malignant tumors of different organ systems mainly including the nervous system and internal organs. A consequent screening and timely preventive treatment of l

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… Pheochromocytoma in von Hippel-Lindau disease: distinct histopathologic phenotype compared to pheochromocytoma in multiple endocrine neoplasia type 2. Endocr Pathol . 2002;13(1):17–27. 58. Lonser RR, Glenn GM, Walther M, et al. von Hippel-Lindau disease. Lancet . 2003;361(9374):2059–2067. 59. … Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. J Clin Endocrinol Metab . 2009;94(6):1938–1944. doi: 10.1210/jc.2009-0354 101. …

The treatment landscape in thyroid cancer: a focus on cabozantinib.

Although patients with thyroid cancer generally fare well, there is a subset for which this is not necessarily true. Progress in understanding the molecular aberrations in thyroid cancer has led to a change in the management of these cases. Since 2011, four multikinase inhibitors (MKIs) have been approved by the US Food and Drug Administration for thyroid cancer - cabozantinib and vandetanib for medullary thyroid cancer and sorafenib and lenvatinib for differentiated thyroid cancer. This change in the treatment landscape has raised challenges for practitioners who may not be familiar with the

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… The three genetic syndromes with which MTC is known to be associated are multiple endocrine neoplasia 2A, multiple endocrine neoplasia 2B, and familial MTC. … endocrine neoplasia type 2 and familial medullary thyroid carcinoma Cancer 2014 120 13 1920 1931 24699901 10.1002/cncr.28661 7 Moura MM Cavaco BM Pinto AE Leite V High prevalence of RAS mutations in RET-negative sporadic medullary thyroid carcinomas J Clin Endocrinol Metab 2011 96 5 E863 E868 21325462 …

Oral and Maxillo-Facial Manifestations of Systemic Diseases: An Overview.

Many systemic (infective, genetic, autoimmune, neoplastic) diseases may involve the oral cavity and, more generally, the soft and hard tissues of the head and neck as primary or secondary localization. Primary onset in the oral cavity of both pediatric and adult diseases usually represents a true challenge for clinicians; their precocious detection is often difficult and requires a wide knowledge but surely results in the early diagnosis and therapy onset with an overall better prognosis and clinical outcomes. In the current paper, as for the topic of the current Special Issue, the authors pre

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… Multiple endocrinous neoplasia (MEN) syndrome is characterized by the occurrence in the same patient of tumours (glandular hyperplasia and/or malignancy) of two or more endocrine glands, generally classified into four major forms (from MEN1 to MEN4) [ 154 , 155 , 156 ]. … Multiple endocrine neoplasia type 1 (MEN1) and type 4 (MEN4) Mol. Cell Endocrinol. 2014;386:2–15. doi: 10.1016/j.mce.2013.08.002. 155. Alotaiby F.M., Fitzpatrick S., Upadhyaya J., Islam M.N., Cohen D., Bhattacharyya I. …

Current and emerging therapeutic options in adrenocortical cancer treatment.

Adrenocortical carcinoma (ACC) is a very rare endocrine tumour, with variable prognosis, depending on tumour stage and time of diagnosis. The overall survival is five years from detection. Radical surgery is considered the therapy of choice in the first stages of ACC. However postoperative disease-free survival at 5 years is only around 30% and recurrence rates are frequent. o,p'DDD (ortho-, para'-, dichloro-, diphenyl-, dichloroethane, or mitotane), an adrenolytic drug with significant toxicity and unpredictable therapeutic response, is used in the treatment of ACC. Unfortunately, treatment f

Glucagonoma syndrome: a case report.

IntroductionGlucagonoma syndrome is a rare paraneoplastic phenomenon, with an estimated incidence of one in 20 million, characterized by necrolytic migratory erythema, hyperglucagonemia, diabetes mellitus, anemia, weight loss, glossitis, cheilitis, steatorrhea, diarrhea, venous thrombosis and neuropsychiatric disturbances in the setting of a glucagon-producing alpha-cell tumor of the pancreas. Necrolytic migratory erythema is the presenting manifestation in the majority of cases, so its early suspicion and correct diagnosis is a key factor in the management of the patient.Case presentationWe p

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… Glucagonomas can be associated with other tumors in Multiple Endocrine Neoplasia syndrome 1 (MEN 1), but this association is rare and comprises no more than 3% of glucagonomas. …

The link between bone-derived factors osteocalcin, fibroblast growth factor 23, sclerostin, lipocalin 2 and tumor bone metastasis.

The skeleton is the third most common site of metastatic disease, which causes serious bone complications and short-term prognosis in cancer patients. Prostate and breast cancers are responsible for the majority of bone metastasis, resulting in osteolytic or osteoblastic lesions. The crosstalk between bone cells and their interactions with tumor cells are important in the development of lesions. Recently, both preclinical and clinical studies documented the clinical relevance of bone-derived factors, including osteocalcin (OC) and its undercarboxylated form (ucOC), fibroblast growth factor 23

The 2024 revised clinical guidelines on the management of thyroid tumors by the Japan Association of Endocrine Surgery.

The Japan Association of Endocrine Surgery published the first edition of the "Clinical guidelines on the management of thyroid tumors" in 2010 and the revised edition in 2018. The guideline presented herein is the English translation of the revised third edition, issued in 2024. The aim is to enhance health outcomes for patients suffering from thyroid tumors by facilitating evidence-based shared decision-making between healthcare providers and patients, as well as standardizing the management of thyroid tumors. The focus is on adult patients with thyroid tumors, addressing clinically signific

Current perspectives on KMT2A fusion proteins and menin inhibition in paediatric acute myeloid leukaemia.

The therapeutic landscape of acute myeloid leukaemia (AML) has evolved beyond the classic '7 + 3'/DA regimen, through the approval and incorporation of targeted treatments in both front-line and relapsed/refractory settings. Indeed, the use of selective BCL-2 antagonists (e.g. venetoclax) and FLT3 inhibitors (e.g. midostaurin, gilteritinib) which target specific molecular characteristics of leukaemic cells, has enhanced outcomes and survival rates. Arguably one of the most exciting advancements has been the clinical development of menin inhibitors for the treatment of patients harbouring speci

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… Mutations in the MEN1 gene that disrupt its functionality are typically associated with Multiple Endocrine Neoplasia Type 1 (MEN1) syndrome [ 44 , 45 ], highlighting the tumour suppressive activity of the gene in neuroendocrine tissues. … Science 276 , 404 – 407 . 9103196 10.1126/science.276.5311.404 45 Lemmens I , de Van Ven WJ , Kas K , Zhang CX , Giraud S , Wautot V , Buisson N , De Witte K , Salandre J , Lenoir G et al . ( 1997 ) Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. …

Keyword Index for Volume 90

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NETs: organ-related epigenetic derangements and potential clinical applications.

High-throughput next-generation sequencing methods have recently provided a detailed picture of the genetic landscape of neuroendocrine tumors (NETs), revealing recurrent mutations of chromatin-remodeling genes and little-to-no pathogenetic role for oncogenes commonly mutated in cancer. Concurrently, multiple epigenetic modifications have been described across the whole spectrum of NETs, and their putative function as tumorigenic drivers has been envisaged. As result, it is still unclear whether or not NETs are epigenetically-driven, rather than genetically-induced malignancies. Although the N

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… The majority of NETs are sporadic, but they can also occur in the context of inherited familial syndromes, such as multiple endocrine neoplasia type 1 (MEN1), Von-Hippel Lindau syndrome, tuberous sclerosis and neurofibromatosis type 1, thus suggesting a causal role for genetic alterations during the … endocrine neoplasia type 1 (MEN1) and type 4 (MEN4) Mol Cell Endocrinol 2014 386 2 15 10.1016/j.mce.2013.08.002 23933118 PMC4082531 14 Yang YJ Song TY Park J Lee J Lim J Jang H Kim YN Yang JH Song Y Choi A Lee HY Jo CH Han JW Kim ST Youn HD Cho EJ Menin mediates epigenetic regulation via histone H3 …

Application of NMR-based metabolomics and machine learning for non-invasive disease screening in dogs.

BackgroundBlood-based metabolomics is increasingly recognised as a powerful tool for disease detection in human medicine. However, its application in veterinary science remains limited.ObjectiveTo evaluate the ability of an NMR-based metabolomics platform combined with machine learning to screen dogs for cancer, cardiovascular disease (CVD), and overall health status.AnimalsClient-owned dogs were recruited from two sites. Of 156 animals enrolled, 139 remained after exclusions and were used for training and cross-validation of classification models.MethodsBlood samples were obtained from clinic

Keyword Index for Volume 111

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Real life management of patients hospitalized with multiple myeloma in France.

BACKGROUND: Patients with multiple myeloma included in prospective clinical trials are highly selected and therefore are expected not to be representative of the entire patient population. Additionally recommendations based on literature data and randomized trials are not systematically implemented in all patients. We sought to determine how patients hospitalized with a diagnosis of multiple myeloma are currently treated in France. METHODS AND FINDINGS: We performed a nation-wide search using the Programme de Médicalisation des Systèmes d'Information (PMSI) database which includes anonymous d