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Middle ear neuroendocrine tumor with multiple brain metastases: a case report and literature review.Frontiers in Oncology 2024Middle ear neuroendocrine tumor (MeNET) is a low-grade tumor with rare recurrence or metastasis. Here, we describe the case of a 29-year-old man who suffered from MeNET... (Review)
Review
Middle ear neuroendocrine tumor (MeNET) is a low-grade tumor with rare recurrence or metastasis. Here, we describe the case of a 29-year-old man who suffered from MeNET that recurred 3 times over 10 years and eventually metastasized to the brain. The patient was treated with surgical resection, radiotherapy, and chemotherapy. However, the tumor was not entirely removed as the brain metastatic tumor adhered tightly to the brainstem. Due to tumor rupture and bleeding after multiple brain tumor removal, profound coma developed. Finally, the patient died 10 months after the last surgery. To our knowledge, this is the first report of a MeNET case with multiple brain metastases. Characteristics of the present case indicate that CK, SYN, increased Ki67 index, and ATRX may be potential biomarkers of invasive MeNET. The survival of patients with brain metastatic MeNET may be extended by surgical resection, radiotherapy, and chemotherapy. Close follow-up of distinctive metastases and biomarkers related to recurrence is also suggested.
PubMed: 38884081
DOI: 10.3389/fonc.2024.1392610 -
The Journal of the Association of... May 2024Secondary spontaneous pneumothoraces occur in patients with known underlying lung disease. Patients with emphysema, bullae, and cystic lesions in the lungs are at high...
Secondary spontaneous pneumothoraces occur in patients with known underlying lung disease. Patients with emphysema, bullae, and cystic lesions in the lungs are at high risk of developing pneumothorax. Cystic lung diseases like Langerhans cell histiocytosis (LCH) can present with complications like pneumothorax. Other common presenting features include maculopapular rashes and bone lesions. It can also be associated with endocrinopathies, most commonly central diabetes insipidus (CDI). We here present a case of a 22-year-old male who presented with pneumothorax, polyuria, and polydipsia. He was diagnosed with LCH on transbronchial lung biopsy, associated with CDI, and was treated with thoracoscopy-guided autologous blood patch for persistent air leak and subcutaneous cytarabine.
Topics: Humans; Histiocytosis, Langerhans-Cell; Male; Pneumothorax; Young Adult; Diabetes Insipidus; Diabetes Insipidus, Neurogenic
PubMed: 38881118
DOI: 10.59556/japi.72.0541 -
Zhurnal Voprosy Neirokhirurgii Imeni N.... 2024Despite slow growth of most pituitary tumors and high rates of total resection and/or effective therapy, pituitary neoplasms are characterized by aggressive behavior... (Review)
Review
Despite slow growth of most pituitary tumors and high rates of total resection and/or effective therapy, pituitary neoplasms are characterized by aggressive behavior with high growth rate, frequent relapses and resistance to standard treatments in 10% of cases. In modern WHO classifications of tumors of the central nervous system, endocrine and neuroendocrine tumors, the authors propose the definition «pituitary neuroendocrine tumor» instead of previous «pituitary adenoma» and «metastasizing pituitary neuroendocrine tumor» instead of «pituitary carcinoma». Currently, there are no effective prognostic markers of aggressive tumors. This complicates early diagnosis. It is proposed to apply a five-stage prognostic classification based on proliferation rate (including mitotic count, Ki-67 index and p53 immunoexpression) and morphometric markers of invasiveness for all resected pituitary neoplasms. This approach would be valuable for earlier detection of aggressive tumors and pituitary carcinomas. Compression of visual pathways, third ventricle and brain stem due to rapid growth of aggressive tumors usually requires redo surgeries with subsequent radiotherapy. Hormonally active tumors require therapy with somatostatin analogues and dopamine agonists in maximum possible doses. Chemotherapy with temozolomide as first-line option is recommended if standard treatment is ineffective. Alternative treatment includes peptide receptor radionuclide therapy (PRRT), molecular targeted therapy (bevacizumab, tyrosine kinase inhibitors, everolimus and cyclin-dependent kinase inhibitors) and immunotherapy (checkpoint inhibitors). Considering the need for combined treatment, these cases should always be discussed by a multidisciplinary team (neurosurgeon, endocrinologist, radiotherapist, oncologist, pathologist) with necessary qualifications and experience in treating these patients. Treatment of aggressive tumors and pituitary carcinomas is becoming an active and rapidly developing direction in neurosurgery, endocrinology and oncology.
Topics: Humans; Pituitary Neoplasms
PubMed: 38881023
DOI: 10.17116/neiro202488031103 -
BMC Geriatrics Jun 2024IgG4-related diseases are very uncommon, and its diagnosis and treatment are complicated as it encompasses multiple disciplines.
BACKGROUND
IgG4-related diseases are very uncommon, and its diagnosis and treatment are complicated as it encompasses multiple disciplines.
CASE PRESENTATION
A 77-year-old woman was admitted with a jaw mass and nausea and vomiting. Laboratory tests showed elevated serum IgG4, pituitary MRI suggested thickening of the pituitary stalk, and head and neck CT suggested orbital and mandibular masses. Patients with mandibular mass were diagnosed with Mikulicz's disease with IgG4-related hypophysitis. We found no other evidence of causing thickening of the pituitary stalk. She was given oral prednisolone 30 mg daily, and her nausea and vomiting improved significantly, and the mandibular and ocular masses decreased in size.
CONCLUSION
Mikulicz's disease combined with IgG4-related hypophysitis is a rare case of IgG4-RD in elderly women. IgG4-RD is one of the causes of head and neck exocrine gland mass and pituitary stalk thickening in the elderly.
Topics: Humans; Aged; Female; Mikulicz' Disease; Immunoglobulin G4-Related Disease; Autoimmune Hypophysitis; Immunoglobulin G; Prednisolone; Magnetic Resonance Imaging
PubMed: 38880897
DOI: 10.1186/s12877-024-05142-7 -
Clinical Proteomics Jun 2024Gliomas are aggressive malignant tumors, with poor prognosis. There is an unmet need for the discovery of new, non-invasive biomarkers for differential diagnosis,...
BACKGROUND
Gliomas are aggressive malignant tumors, with poor prognosis. There is an unmet need for the discovery of new, non-invasive biomarkers for differential diagnosis, prognosis, and management of brain tumors. Our objective is to validate four plasma biomarkers - glial fibrillary acidic protein (GFAP), neurofilament light (NEFL), matrix metalloprotease 3 (MMP3) and fatty acid binding protein 4 (FABP4) - and compare them with established brain tumor molecular markers and survival.
METHODS
Our cohort consisted of patients with benign and malignant brain tumors (GBM = 77, Astrocytomas = 26, Oligodendrogliomas = 23, Secondary tumors = 35, Meningiomas = 70, Schwannomas = 15, Pituitary adenomas = 15, Normal individuals = 30). For measurements, we used ultrasensitive electrochemiluminescence multiplexed immunoassays.
RESULTS
High plasma GFAP concentration was associated with GBM, low GFAP and high FABP4 were associated with meningiomas, and low GFAP and low FABP4 were associated with astrocytomas and oligodendrogliomas. NEFL was associated with progression of disease. Several prognostic genetic alterations were significantly associated with all plasma biomarker levels. We found no independent associations between plasma GFAP, NEFL, FABP4 and MMP3, and overall survival. The candidate biomarkers could not reliably discriminate GBM from primary or secondary CNS lymphomas.
CONCLUSIONS
GFAP, NEFL, FABP4 and MMP3 are useful for differential diagnosis and prognosis, and are associated with molecular changes in gliomas.
PubMed: 38879494
DOI: 10.1186/s12014-024-09492-7 -
The Journal of Clinical Endocrinology... Jun 2024a paradoxical growth hormone (GH) response to oral glucose load (OGTT) in acromegaly is associated with a milder phenotype.
CONTEXT
a paradoxical growth hormone (GH) response to oral glucose load (OGTT) in acromegaly is associated with a milder phenotype.
OBJECTIVE
To study whether the GH response to OGTT predicts the risk of recurrence after initial surgical cure.
DESIGN
Retrospective, observational study.
SETTING
Two tertiary care centers.
PATIENTS
We investigated 254 patients with acromegaly who were cured by surgery.
INTERVENTION
All patients underwent OGTT at diagnosis before pituitary surgery. A peak-to-basal GH ratio ≥ 120% within 90 minutes was used to distinguish paradoxical (GH-Par) from non-paradoxical acromegalic patients (GH-NPar).
MAIN OUTCOME MEASURE
Cox analysis was used to investigate whether the paradoxical GH response to OGTT was associated with the risk of disease recurrence.
RESULTS
A paradoxical GH response to OGTT occurred in 87 patients (34.3%, termed GH-Par group). Recurrence of acromegaly occurred in three patients of the GH-Par group (3.4%) and in 20 patients in the GH-NPar group (12.0%). In the multivariate analysis, the paradoxical GH response to OGTT was significantly associated with the risk of recurrence (HR 0.18, 95% CI, 0.05-0.63; P = 0.007). Basal GH level at diagnosis was the only other variable associated with the risk of disease recurrence (HR 1.58, 95% CI, 1.01-2.47; P = 0.04).
CONCLUSIONS
our study demonstrates that a paradoxical GH response to OGTT in the preoperative setting predicts a lower risk of disease recurrence after initial surgical cure. The pattern of GH responsiveness to OGTT is, therefore, useful to predict the long-term outcome of patients with acromegaly.
PubMed: 38878276
DOI: 10.1210/clinem/dgae410 -
Scientific Reports Jun 2024Sodium-glucose cotransporter (SGLT) 2 inhibition is a well-known target for the treatment of type 2 diabetes, renal disease and chronic heart failure. The protein SGLT2... (Randomized Controlled Trial)
Randomized Controlled Trial
Sodium-glucose cotransporter (SGLT) 2 inhibition is a well-known target for the treatment of type 2 diabetes, renal disease and chronic heart failure. The protein SGLT2 is encoded by SLC5A2 (Solute Carrier Family 5 Member 2), which is highly expressed in renal cortex, but also in the testes where glucose uptake may be essential for spermatogenesis and androgen synthesis. We postulated that in healthy males, SGLT2 inhibitor therapy may affect gonadal function. We examined the impact on gonadal and steroid hormones in a post-hoc analysis of a double-blind, randomized, placebo-controlled research including 26 healthy males who were given either placebo or empagliflozin 10 mg once daily for four weeks. After one month of empagliflozin, there were no discernible changes in androgen, pituitary gonadotropin hormones, or inhibin B. Regardless of BMI category, the administration of empagliflozin, a highly selective SGLT2 inhibitor, did not alter serum androgen levels in men without diabetes. While SGLT2 is present in the testes, its inhibition does not seem to affect testosterone production in Leydig cells nor inhibin B secretion by the Sertoli cells.
Topics: Male; Humans; Benzhydryl Compounds; Glucosides; Adult; Sodium-Glucose Transporter 2 Inhibitors; Double-Blind Method; Testis; Testosterone; Inhibins; Middle Aged; Sodium-Glucose Transporter 2; Androgens; Leydig Cells; Sertoli Cells
PubMed: 38877312
DOI: 10.1038/s41598-024-64684-3 -
Frontiers in Pediatrics 2024Congenital contractures of the limbs and face, hypotonia, and developmental delay (CLIFAHDD) syndrome (OMIM #616266) is an autosomal dominant hereditary disease that can...
BACKGROUND
Congenital contractures of the limbs and face, hypotonia, and developmental delay (CLIFAHDD) syndrome (OMIM #616266) is an autosomal dominant hereditary disease that can lead to the congenital contracture of the limbs and face, hypotonia, and developmental delay. In addition, it may result in growth retardation and present various clinical symptoms, such as brain atrophy, a small pituitary gland, musculoskeletal abnormalities, abnormal breathing, abdominal hernia, and abnormal facial features. Herein, we describe a novel missense genetic variant in the sodium leak channel, non-selective (NALCN) gene that is associated with CLIFAHDD syndrome.
CASE DESCRIPTION
This study describes a patient with varus deformities in both feet, deviation of the ulnar side of the fingers, and severe hypotonia. This patient was subsequently confirmed to have CLIFAHDD syndrome through genetic testing, which also revealed a novel missense genetic variant in the NALCN gene (c.3553G > A, p.Ala1185Thr).
CONCLUSIONS
Our findings further enrich the known variant spectrum of the NALCN gene and may expand the range of clinical options for treating NALCN-related disorders.
PubMed: 38873579
DOI: 10.3389/fped.2024.1370790 -
Frontiers in Endocrinology 2024Previous observational epidemiological studies have suggested a potential association between thyroid function and inflammatory bowel disease (IBD). However, the...
BACKGROUND
Previous observational epidemiological studies have suggested a potential association between thyroid function and inflammatory bowel disease (IBD). However, the findings remain inconclusive, and whether this association is causal remains uncertain. The objective of this study is to investigate the causal association between thyroid function and IBD.
METHODS
Genome-wide association studies (GWAS) involving seven indicators of thyroid function, IBD, and 41 cytokines were analyzed. Bidirectional two-sample Mendelian randomization (MR) and multivariable MR were conducted to examine the causal relationship between thyroid function and IBD and to explore the potential mechanisms underlying the associations.
RESULTS
Genetically determined hypothyroidism significantly reduced the risk of CD (odds ratio [OR] = 0.761, 95% CI: 0.655-0.882, < 0.001). Genetically determined reference-range TSH was found to have a suggestive causal effect on IBD (OR = 0.931, 95% CI: 0.888-0.976, = 0.003), (Crohn disease) CD (OR = 0.915, 95% CI: 0.857-0.977, = 0.008), and ulcerative colitis (UC) (OR =0.910, 95% CI: 0.830-0.997, = 0.043). In reverse MR analysis, both IBD and CD appeared to have a suggestive causal effect on the fT3/fT4 ratio (OR = 1.002, = 0.013 and OR = 1.001, = 0.015, respectively). Among 41 cytokines, hypothyroidism had a significant impact on interferon-inducible protein-10 (IP-10) (OR = 1.465, 95% CI: 1.094-1.962, = 0.010). The results of multivariable MR showed that IP-10 may mediate the causal effects of hypothyroidism with CD.
CONCLUSION
Our results suggest that an elevated TSH level reduces the risk of CD, with IP-10 potentially mediating this association. This highlights the pituitary-thyroid axis could serve as a potential therapeutic strategy for CD.
Topics: Humans; Genome-Wide Association Study; Cytokines; Inflammatory Bowel Diseases; Thyroid Gland; Hypothyroidism; Mendelian Randomization Analysis; Thyroid Function Tests; Polymorphism, Single Nucleotide; Thyrotropin; Male
PubMed: 38872961
DOI: 10.3389/fendo.2024.1376139 -
AJNR. American Journal of Neuroradiology Jun 2024Given their overlapping features, pituitary metastases frequently imitate pituitary neuroendocrine tumors in neuroimaging studies. This study aimed to distinguish...
BACKGROUND AND PURPOSE
Given their overlapping features, pituitary metastases frequently imitate pituitary neuroendocrine tumors in neuroimaging studies. This study aimed to distinguish pituitary metastases from pituitary neuroendocrine tumors on the basis of conventional MR imaging and clinical features as a practical approach.
MATERIALS AND METHODS
In this 2-center retrospective study, backward from January 2024, preoperative pituitary MR imaging examinations of 22 pituitary metastases and 74 pituitary neuroendocrine tumors were analyzed. Exclusion criteria were as follows: absence of a definitive histopathologic diagnosis, history of pituitary surgery or radiation therapy before MR imaging, and pituitary neuroendocrine tumors treated with medical therapy. Two radiologists systematically evaluated 13 conventional MR imaging features that have been reported more commonly as indicative of pituitary metastases and pituitary neuroendocrine tumors in the literature. Age, sex, history of cancer, and maximum tumor size constituted the clinical/epidemiologic features. The primary cancer origin for this study was also noted. Univariable and multivariable logistic regression was used for the selection of variables, determining independent predictors, and modeling. Interobserver agreement was evaluated for all imaging parameters using the Cohen κ statistic or intraclass correlation coefficient.
RESULTS
A total of 22 patients with pituitary metastases (8 women; mean age, 49.5 [SD, 13] years) and 74 patients with pituitary neuroendocrine tumors (36 women; mean age, 50.1 [SD, 11] years) were enrolled. There was no statistically significant distributional difference in age, sex, or maximum tumor size between the 2 groups. Lung cancer (9/22; 41%) was the most commonly reported primary tumor, followed by breast (3/22; 13.6%) and unknown cancer (3/22; 13.6%). Logistic regression revealed 3 independent predictors: rapid growth on control MR imaging, masslike or nodular expansion of the pituitary stalk, and a history of cancer. The model based on these 3 features achieved an area under the curve, accuracy, sensitivity, specificity, and Brier score of 0.987 (95% CI, 0.964-1), 97.9% (95% CI, 92.7%-99.8%), 95.5% (95% CI, 77.2%-99.9%), 98.6% (95% CI, 92.7%-100%), and 0.025, respectively.
CONCLUSIONS
Two conventional features based on pituitary MR imaging with the clinical variable of history of cancer had satisfying predictive performance, making them potential discriminators between pituitary metastases and pituitary neuroendocrine tumors. In cases in which differentiation between pituitary metastases and pituitary neuroendocrine tumors poses a challenge, the results of this study may help with the diagnosis.
PubMed: 38871368
DOI: 10.3174/ajnr.A8302