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Cavernous sinus syndrome is characterized by ophthalmoplegia, diplopia, facial hypoesthesia, Horner syndrome and proptosis. The authors present a clinical case of an 89-year-old woman presented to the emergency department with complaints of vomiting, severe left frontotemporal headache, photophobia, left ptosis and diplopia with less than 24 hours of evolution. Neurological examination revealed ptosis and limitation of all eye movements in the left eye. Cranioencephalic computed tomography and magnetic resonance imaging showed an expansive lesion with expression in the suprasellar cistern and in the left cavernous sinus, suggestive of a macroadenoma with signs of hemorrhagic transformation. Cavernous sinus syndrome has several etiologies, as cerebrovascular diseases, infectious diseases, and trauma. In addition to the clinical history and physical examination, imaging tests are essential to determine the etiology behind this syndrome.

ABSTRACT In this article, we present a case of diffuse follicular variant papillary thyroid carcinoma with pituitary metastasis, which is a rare cause of pituitary metastasis. The follicular variant of papillary thyroid carcinoma is an uncommon variant of papillary carcinoma. A 74-year-old male was presented with weakness, fatigue, and a decreased appetite. The patient was diagnosed with secondary adrenal and thyroid insufficiencies. Imaging revealed a pituitary mass with suprasellar extension, right cavernous sinus invasion, and optic chiasm compression. Thyroid ultrasonography revealed a nodule with a maximum size of 7.2cm in the right lobe. Cytological examination via fine-needle aspiration suggested papillary thyroid cancer. Total thyroidectomy with central and right lateral neck dissection confirmed the diagnosis of diffuse follicular variant of papillary thyroid carcinoma. Owing to visual field defects, the patient underwent transsphenoidal surgery. Histological and immunohistochemical evaluations confirmed pituitary metastasis from the papillary thyroid cancer. Radioactive iodine treatment and gamma knife radiotherapy of the pituitary gland were performed. The initiation of sorafenib treatment was deemed appropriate during the follow-up. A significant decrease in the thyroglobulin levels was observed after sorafenib treatment. Pituitary metastasis should be considered in patients diagnosed with hypopituitarism and pituitary lesions at initial evaluation. The presence of visual field defects may be an indication for neurosurgical intervention and guide both diagnosis and treatment. The management of papillary thyroid cancer and the role of treatment modalities in prognosis depend on the biological behavior of the tumor. Early diagnosis and multidisciplinary management are crucial for the treatment of these patients.

Background: The endoscopic endonasal approach (EEA) is a well-established technique for the treatment of pituitary neuroendocrine tumor Preservation of normal gland tissue is crucial to retain effective neuroendocrine pituitary function. The aim of this paper is to analyze pituitary endocrine secretion after EEA for pituitary neuroendocrine tumor to identify potential predictors of functioning gland recovery. Methods: Patients who underwent an exclusive EEA for pituitary neuroendocrine tumors between October 2014 and November 2019 were reviewed. Patients were divided into groups according to postoperative pituitary function (Group 1, unchanged; group 2, recovering; group 3, worsening). Results: Among the 45 patients enrolled, 15 presented a silent tumor and showed no hormonal impairment, and 30 patients presented pituitary dysfunction. A total of 19 patients (42.2%) were included in group 1, 12 (26.7%) patients showed pituitary function recovery after surgery (group 2), and 14 patients (31.1%) exhibited the onset of new pituitary deficiency postoperatively (group 3). Younger patients and those with functioning tumor were more likely to have complete pituitary hormonal recovery (p = 0.0297 and p = 0.007, respectively). No predictors of functional gland worsening were identified. Conclusion: EEA for pituitary neuroendocrine tumor is a reliable and safe technique regarding postoperative hormonal function. Preserving pituitary function after tumor resection should be a primary goal in a minimally invasive approach. [ABSTRACT FROM AUTHOR]

The sellar region represents a complex anatomical area, composed of multiple structures of different embryological derivation, including the skull base and the pituitary gland, along with vascular, nervous, and meningeal structures. Masses arising in this region include benign and malignant lesions arising from the pituitary gland itself, but also from vestigial embryological residues or surrounding tissues, that may require different therapeutic approaches. While assessing sellar region masses, the combination of clinical presentation and imaging features is fundamental to define hypotheses about their nature. MR represents the imaging modality of choice, providing information about the site of the lesion, its imaging features, and relation with adjacent structures, while CT is useful to confirm the presence of lesion calcifications or to reveal tumor invasion of bony structures. The aim of this pictorial review is to provide an overview of the common neoplasms and tumor-like conditions of the sellar region, according to the 2021 WHO Classification of Tumors of the Central Nervous System (fifth edition), with an emphasis on the radiologic-pathologic correlation. After a brief introduction on the anatomy of this region and the imaging and pathological techniques currently used, the most relevant MRI characteristics, clinical findings, and pathological data, including histologic and molecular features, will be shown and discussed, with the aim of facilitating an appropriate differential diagnosis among these entities. [ABSTRACT FROM AUTHOR]

Acromegaly is a severe neuroendocrine disease caused by chronic excessive production of somatotropic hormone (STH), characterized by specific changes in appearance, metabolic disorders. In 95% of cases, the cause of pathology is STH-producing pituitary adenomas. The priority method of treatment for acromegaly is transnasal transsphenoidal adenomectomy. If it is impossible to carry out neurosurgical intervention, in order to prevent the progression of the disease and the development of complications, patients are recommended drug therapy with long-acting somatostatin analogues, and if their effectiveness is low, additional radiation therapy may be applied to the neoplasm area. The usage of a relatively new group of drugs, antagonists of STH receptors, namely Pegvisomant for the purpose of drug treatment of acromegaly demonstrates high efficacy even in cases of aggressive forms resistant to other types of treatment. In this article we present two clinical cases of hereditary acromegaly, when the initiation of Pegvisomant therapy led to the achievement of clinical and laboratory remission of acromegaly in patients with an aggressive form of the disease, accompanied by continued growth of residual neoplasm tissue and preservation of its secreting ability even after surgical interventions, radiatiotherapy and long-term drug treatment with somatostatin analogues. The results of the above clinical cases confirm the success of mono- or combined (in cases with continued growth of the neoplasm) therapy with a growth hormone receptor antagonist, Pegvisomant, especially in the case of aggressive acromegaly.

Pituitary surgery has advanced considerably in recent years with the exploration and development of various endoscopic approaches and techniques. Different endoscopic skull base approaches are being applied to access sellar tumors in different locations. Moreover, extracapsular dissection and cavernous sinus exploration have enabled gross total resection of sellar tumors where it could not have been achieved in the past. Techniques for skull base reconstruction have also progressed, allowing surgeons to remove larger and more complicated tumors than before. This review article discusses different endoscopic skull base approaches, surgical techniques for removing pituitary adenomas, and reconstruction methods for repairing postoperative low-flow and high-flow cerebrospinal fluid leakage.

Published studies on the use of stereotactic radiotherapy for dogs with pituitary tumors are limited. This retrospective observational study describes results of stereotactic radiotherapy for 45 dogs with imaging-diagnosed pituitary tumors. All dogs were treated at a single hospital during the period of December 2009-2015. The stereotactic radiotherapy was delivered in one 15 Gray (Gy) fraction or in three 8 Gy fractions. At the time of analysis, 41 dogs were deceased. Four were alive and censored from all survival analyses; one dog received 8 Gy every other day and was removed from protocol analyses. The median overall survival from first treatment was 311 days (95% confidence interval 226-410 days [range 1-2134 days]). Thirty-two dogs received 15 Gy (median overall survival 311 days; 95% confidence interval [range 221-427 days]), and 12 received 24 Gy on three consecutive days (median overall survival 245 days, 95% confidence interval [range 2-626 days]). Twenty-nine dogs had hyperadrenocorticism (median overall survival 245 days), while 16 had nonfunctional masses (median overall survival 626 days). Clinical improvement was reported in 37/45 cases. Presumptive signs of acute adverse effects within 4 months of stereotactic radiotherapy were noted in 10/45, and most had improvement spontaneously or with steroids. Late effects versus tumor progression were not discernable, but posttreatment blindness (2), hypernatremia (2), and progressive neurological signs (31) were reported. There was no statistical difference in median overall survival for different protocols. Patients with nonfunctional masses had longer median overall survival than those with hyperadrenocorticism (P = 0.0003). Survival outcomes with stereotactic radiotherapy were shorter than those previously reported with definitive radiation, especially for dogs with hyperadrenocorticism.

OBJECTIVE Accurate presurgical localization of microadenomas in Cushings disease (CD) leads to improved remission rates and decreased adverse events. Volumetric gradient recalled echo (3D-GRE) MRI detects pituitary microadenomas in CD in up to 50%-80% cases as a focus of hypointensity due to delayed contrast wash-in. The authors have previously reported that postcontrast FLAIR imaging may be useful in detecting otherwise MRI-negative pituitary microadenomas as foci of hyperintensity. This reflects theoretically complementary imaging of microadenomas due to delayed contrast washout. The authors report on the diagnostic accuracy and clinical utility of FLAIR imaging in the detection of microadenomas in patients with CD. METHODS The authors prospectively analyzed imaging findings in 23 patients (24 tumors) with biochemically proven CD who underwent transsphenoidal surgery for CD. Preoperatively, the patients underwent pituitary MRI with postcontrast FLAIR and postcontrast 3D-GRE sequences. RESULTS Postcontrast FLAIR hyperintensity was detected in macroadenomas, and in 3D-GRE-positive or -negative microadenomas. Overall, 3D-GRE was superior in detecting surgically and histopathologically confirmed, location-concordant microadenomas. Of 24 pituitary adenomas, 18 (75%; sensitivity 82%, positive predictive value 95%) were found on 3D-GRE, and 13 (50% [1 was false positive]; sensitivity 55%, positive predictive value 92%) were correctly identified on FLAIR. The stand-alone specificity of 3D-GRE and FLAIR was similar (50%). These results confirm the superiority of 3D-GRE as a stand-alone imaging modality. The authors then tested the utility of FLAIR as a complementary tool to 3D-GRE imaging. All 5 patients with negative 3D-GRE MRI displayed a distinct focus of FLAIR enhancement. Four of those 5 cases (80%) had location-concordant positive histopathological results and achieved postsurgical biochemical remission. The remaining patient was not cured, because resection did not include the region of FLAIR hyperintensity. CONCLUSIONS This study suggests that delayed microadenoma contrast washout may be detected as FLAIR hyperintensity in otherwise MRI-negative CD cases. The authors propose adding postcontrast FLAIR sequences to complement 3D-GRE for surgical planning in patients with CD. Clinical trial registration no.: NIH protocol 03-N-0164, NCT00060541 (clinicaltrials.gov).

Inactivation of the retinoblastoma gene (RB1) product, pRB, is common in many human cancers. Targeting downstream effectors of pRB that are central to tumorigenesis is a promising strategy to block the growth of tumors harboring loss-of-function RB1 mutations. One such effector is retinoblastoma-binding protein 2 (RBP2, also called JARID1A or KDM5A), which encodes an H3K4 demethylase. Binding of pRB to RBP2 has been linked to the ability of pRB to promote senescence and differentiation. Importantly, genetic ablation of RBP2 is sufficient to phenocopy pRBs ability to induce these cellular changes in cell culture experiments. Moreover, germline Rbp2 deletion significantly impedes tumorigenesis in Rb1+/- mice. The value of RBP2 as a therapeutic target in cancer, however, hinges on whether loss of RBP2 could block the growth of established tumors as opposed to simply delaying their onset. Here we show that conditional, systemic ablation of RBP2 in tumor-bearing Rb1+/- mice is sufficient to slow tumor growth and significantly extend survival without causing obvious toxicity to the host. These findings show that established Rb1-null tumors require RBP2 for growth and further credential RBP2 as a therapeutic target in human cancers driven by RB1 inactivation.

Simple Summary: Radiosurgery as an adjuvant treatment for acromegaly has shown efficacy in endocrine and tumor biochemical control, with an acceptable safety profile; however, the reported endocrine and tumor control rates and safety profile are heterogeneous. Therefore, the aim of the study was to evaluate the results of the efficiency and safety of radiosurgery in a well-characterized cohort of acromegalic patients, in addition to analyzing the prognostic factors associated with disease remission. We found a statistically significant reduction in IGF-1, IFG-1 x ULN, and GH concentrations at one year, and at the end of follow-up; in addition, it was observed that high basal IGF-1 concentrations were predictors of the biochemical absence of remission. We did not observe cases of optic neuritis associated with radiation toxicity or stroke. Objective: To analyze, in a cohort of acromegalic patients, the results of the efficiency and safety of radiosurgery (CyberKnife), as well as the prognostic factors associated with disease remission. Material and methods: Observational, retrospective, longitudinal, and analytical study that included acromegalic patients with persistent biochemical activity after initial medical–surgical treatment, who received treatment with CyberKnife radiosurgery. GH and IGF-1 levels at baseline after one year and at the end of follow-up were evaluated. Results: 57 patients were included, with a median follow-up of four years (IQR, 2–7.2 years). The biochemical remission rate was 45.6%, 33.33% achieved biochemical control, and 12.28% attained biochemical cure at the end of follow-up. A progressive and statistically significant decrease was observed in the comparison of the concentrations of IGF-1, IFG-1 x ULN, and baseline GH at one year and at the end of follow-up. Both cavernous sinus invasion and elevated baseline IGF-1 x ULN concentrations were associated with an increased risk of biochemical non-remission. Conclusion: Radiosurgery (CyberKnife) is a safe and effective technique in the adjuvant treatment of GH-producing tumors. Elevated levels of IGF x ULN before radiosurgery and invasion of the cavernous sinus by the tumor could be predictors of biochemical non-remission of acromegaly. [ABSTRACT FROM AUTHOR]

Objective: Both tinnitus and sellar masses are common disorders in the general population and sometimes occur together. However, little is known about their relationship. We investigated the prevalence, clinical aspects and impact of tinnitus in patients with sellar masses, and evaluated the effect of surgical tumour resection on these variables., Methods: A prospective, controlled, single-centre study was conducted, including 57 patients (aged 53.1±16.4 years; 47% male) and 29 of their partners as controls (aged 54.8±14.9 years; 55% male). Participants completed a questionnaire consisting of case history items and the Mini-Tinnitus Questionnaire - Dutch version twice; 1 month preoperatively and 3 months postoperatively., Results: Prior to transsphenoidal surgery, 24/57 (42%) of patients and 8/29 (28%) of controls reported having tinnitus (p=0.19). After surgery, the prevalence of tinnitus in the patient group decreased to 12/49 (24%), while four patients reported an increase in tinnitus. The impact of tinnitus on daily life remained low. No differences were found in the prevalence, characteristics and impact of tinnitus before and after surgery compared with controls., Conclusions: In this study, we found no association between tinnitus and (resection of) sellar masses. However, as the decrease in tinnitus prevalence was more pronounced in patients than in controls, and tinnitus resolved in one patient after resection of a giant non-functioning pituitary adenoma, and worsened in two patients with perioperative bleeding complications, tinnitus may be associated with sellar masses in selected cases., (Copyright © 2025. Published by Elsevier Inc.)

The fourth edition of the latest classification principles for endocrine tumors was published by the World Health Organization (WHO) in 2017. The latest tumor classification and new pathological classification of each pituitary gland tumor were given in detail. In May 2021, International Classification of Disease⁃11 (ICD⁃11) was updated and the independent additional code of each type of tumor was enriched. Non⁃neuroendocrine tumors, including craniopharyngioma, neuronal and paraneuronal tumors, tumors of posterior pituitary, mesenchymal and stromal tumors, hematolymphoid tumors, germ cell tumors, and secondary tumors in the pituitary gland are described. The corresponding disease codes and morphological codes are listed in combination with ICD⁃10, ICD⁃11 and ICD⁃O. Detailed additional codes for each tumor are listed according to ICD⁃11.

Thyrotoxicosis, which characteristics are increased excitability, emotional lability, tachycardia episodes, increasing of free fractions of tetraiodothyronine (T4) and triiodothyronine (T3) is one of the most common endocrinological syndromes. However, during the interpretation of thyroid status it is very important to take into account the possibility that a patient has TSH-secreting pituitary adenoma. Timely diagnosis of TSH-secreting adenomas plays prominent role in guiding the treatment course since it is associated with an improvement of long-term prognosis and an increase of the patient’s total life expectancy. Needed to underline that in some patients with TSH-secreting adenomas manifestations of the other pituitary hormones hypersecretion (first of all — somatotropin and prolactin) come to the fore, that lead to the development of acromegaly and hyperprolactinemia accordingly. Our work basing on two clinical cases presents main principles of diagnosis and specific clinical manifestations of TSH-secreting pituitary adenomas and demonstrates efficacy of somatostatin analogues in the treatment of this pathology.

The fourth edition of the latest classification of endocrine tumors has published by World Health Organization (WHO) in 2017, in which the theoretical basis of classification has been updated. With the discovery of specific transcription factors, the classification of pituitary adenomas which could not be diagnosed definitively and confused easily, whose prognosis is impossible to determine, has been defined. In this paper, the classification, diagnosis and prognosis of each pituitary adenoma were discussed according to the latest classification, and the corresponding disease codes were summarized based on International Classification of Disease⁃10 (ICD⁃10) and ICD⁃O.

Background: Visual acuity (VA) and visual field defects (VF) are evaluated in the preoperative management of non-functioning pituitary adenoma (NFPA). The former is less studied than the latter. Research question: To analyze preoperative factors, including adenoma volumetry, associated with reduced VA and postoperative improvement of VA over five years after surgery. Methods: Eighty-seven patients who had primary surgery for NFPA were retrospectively reviewed. Eyes were categorized by best/worse preoperative VA. Ophthalmology review was performed before surgery, at three months, one to two years, and five years post-surgery. Results: Reduced VA in any eye was present in 55%. VA of the worse eye improved in 77% and normalized in 54%. The majority improved within three months. Additional cases with VA improvement were seen at 1–2 years after surgery. No further improvement was seen five years after surgery. Fifty percent of patients with, per definition, normal preoperative VA showed improved VA postoperatively. Tumor height above the sella in the sagittal plane was the best radiological predictor of reduced VA. Volumetry did not add to accuracy. Age, sagittal tumor height and visual field defects were risk factors of preoperative reduced VA. No predictors of postoperative recovery were identified. Conclusion: Half of patients with reduced VA recover fully. All patients, independent of age and degree of VA reduction, may improve. No predictors of recovery were found. Early improvement is common and improvement beyond two years is unlikely. The frequency of reduced VA is underestimated. The present results could be of value in pre- and postoperative counseling.

Background: Sudden onset of severe headache is the most common presentation of a ruptured intracranial aneurysm. Similar symptoms can be caused by pituitary apoplexy, and radiological examination is needed to distinguish between the two. Development of infarction and/or haemorrhage of the hypophysis with concomitant unruptured cerebral aneurysm has been described. However, intratumoural aneurysm within a pituitary adenoma presenting with the ictus of both pathologies is extremely rare. Case presentation: A 64-year-old man presented with classic symptoms of pituitary apoplexy. His symptoms improved after a few days, and he was discharged. However, he subsequently developed further episodes of sudden and severe headache together with visual decline and ophthalmoplegia. Radiographs demonstrated an enlarging sellar mass with suspicion of a ruptured internal carotid artery aneurysm, within the apoplectic pituitary macroadenoma. Although an endovascular procedure was planned, the patient developed massive subarachnoid haemorrhage resulting in brain death. Conclusion: This case report describes an intratumoural aneurysm of the cavernous internal carotid artery as a potential cause or result of pituitary apoplexy. Despite its rarity, this possible life-threatening complication of pituitary apoplexy should be recognised for prompt diagnosis and early management. [ABSTRACT FROM AUTHOR]

Purpose: To make a systematic review and meta-analysis of studies evaluating the effect of cabergoline (CBG) in the treatment of non-functioning pituitary adenomas (NFPAs). Methods: The primary outcome was tumor shrinkage, using as cut-off a reduction of at least 20% of the NFPA size from baseline. The secondary outcomes were prevention of tumor progression, clinically required additional interventions and adverse events (AE). Search strategies were applied to MEDLINE, EMBASE, LILACS and CENTRAL. Independent reviewers assessed the study eligibility, extracted data, and evaluated risk of bias. Random meta-analysis for the proportion of tumor shrinkage, prevention of tumor progression, clinically required additional interventions and frequency of AE were conducted. Results: Five studies were included. The meta-analysis of proportion was 19% for tumor shrinkage (95% CI 8–38%, 4 studies, 108 participants), 50% for prevention of tumor progression (95% CI 35–64%, 5 studies, 187 participants), 14% for clinically required additional interventions (95% CI 6–30%, 4 studies, 128 participants) and 2% for adverse events (95% CI 1–6%, 3 studies, 157 participants). Conclusions: Effect of CBG to promote tumor shrinkage in NFPAs was low, while prevention of tumor progression after surgery was seen in half of the cases, with a low frequency of adverse events. Systematic review registration: PROSPERO CRD42020206778. [ABSTRACT FROM AUTHOR]

Copyright of Revista de Ciencias Médicas de Pinar del Río is the property of Editorial Ciencias Medicas and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

This review provides an overview of novel insights in the clinical management of patients with Multiple Endocrine Neoplasia Type 1, focusing on the last decade since the last update of the MEN1 guidelines. With regard to Diagnosis: Mutation‐negative patients with 2/3 main manifestations have a different clinical course compared to mutation‐positive patients. As for primary hyperparathyroidism: subtotal parathyroidectomy is the initial procedure of choice. Current debate centres around the timing of initial parathyroidectomy as well as the controversial topic of unilateral clearance in young patients. For duodenopancreatic neuroendocrine tumours (NETs), the main challenge is accurate and individualized risk stratification to enable personalized surveillance and treatment. Thymus NETs remain one of the most aggressive MEN1‐related tumours. Lung NETs are more frequent than previously thought, generally indolent, but rare aggressive cases do occur. Pituitary adenomas are most often prolactinomas and nonfunctioning microadenomas with an excellent prognosis and good response to therapy. Breast cancer is recognized as part of the MEN1 syndrome in women and periodical screening is advised. Clinically relevant manifestations are already seen at the paediatric age and initiating screening in the second decade is advisable. MEN1 has a significant impact on quality of life and US data show a significant financial burden. In conclusion, patient outcomes have improved, but much is still to be achieved. For care tailored to the needs of the individual patient and improving outcomes on an individual basis, studies are now needed to define predictors of tumour behaviour and effects of more individualized interventions. [ABSTRACT FROM AUTHOR]

Copyright of Chinese Journal of Clinical Healthcare is the property of Chinese Journal of Clinical Healthcare and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Chinese Journal of Clinical Healthcare is the property of Chinese Journal of Clinical Healthcare and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

ObjectiveTo evaluate lumbar drain (LD) efficacy in transnasal resection of pituitary macroadenomas in preventing postoperative cerebrospinal fluid (CSF) leak, technique safety, and effect on length of hospital stay.MethodsWe conducted a retrospective data review of pituitary tumor patients in our institution who underwent surgery between December 2006 and January 2013. All patients were operated on for complete surgical resection of pituitary macroadenoma tumors. Patients were divided into 2 groups: group 1 received a preoperative drain, while LD was not preoperatively inserted in group 2. In cases of tumors with suprasellar extension with anticipation of high-flow leak, LD was inserted after the patient was intubated and in a lateral position. Lumbar drain was used for 48 hours, and the drain was removed if no leak was observed postoperatively. In documented postoperative CSF leak patients with no preoperative drain, the leak was treated by LD trial prior to surgical reconstruction. Cases in which leak occurred 6 months postoperatively were excluded.ResultsOur study population consisted of 186 patients, 99 women (53%) and 87 men (47%), with a mean age of 50.3+/-16.1 years. Complications occurred in 7 patients (13.7%) in group 1 versus 21 (15.5%) in group 2 (p=0.72). Postoperative CSF leak was observed in 1 patient (1.9%) in group 1 and 7 (5%) in group 2 (Fisher exact test=0.3). Length of hospital stay was a mean of 4.7+/-1.9 days in group 1 and a mean of 2.7+/-2.4 days in group 2 (p

The CABLES1 cell cycle regulator participates in the adrenal-pituitary negative feedback, and its expression is reduced in corticotropinomas, pituitary tumors with a largely unexplained genetic basis. We investigated the presence of CABLES1 mutations/copy number variations (CNVs) and their associated clinical, histopathological and molecular features in patients with Cushing's disease (CD). Samples from 146 pediatric (118 germline DNA only/28 germline and tumor DNA) and 35 adult (tumor DNA) CD patients were screened for CABLES1 mutations. CNVs were assessed in 116 pediatric CD patients (87 germline DNA only/29 germline and tumor DNA). Four potentially pathogenic missense variants in CABLES1 were identified, two in young adults (c.532G > A, p.E178K and c.718C > T, p.L240F) and two in children (c.935G > A, p.G312D and c.1388A > G, and p.D463G) with CD; no CNVs were found. The four variants affected residues within or close to the predicted cyclin-dependent kinase-3 (CDK3)-binding region of the CABLES1 protein and impaired its ability to block cell growth in a mouse corticotropinoma cell line (AtT20/D16v-F2). The four patients had macroadenomas. We provide evidence for a role of CABLES1 as a novel pituitary tumor-predisposing gene. Its function might link two of the main molecular mechanisms altered in corticotropinomas: the cyclin-dependent kinase/cyclin group of cell cycle regulators and the epidermal growth factor receptor signaling pathway. Further studies are needed to assess the prevalence of CABLES1 mutations among patients with other types of pituitary adenomas and to elucidate the pituitary-specific functions of this gene.

We report a case of coil migration into the oropharynx five years after treatment of a left internal carotid pseudoaneurysm following abandoned transsphenoidal resection of a pituitary macroadenoma. Eight other cases were found on literature review, with coil migration occurring between 2 and 120 months often after a history of transsphenoidal surgery. The majority of these were treated with trimming in a day case setting. This report highlights the need for careful extended follow up when a pseudoaneurysm forms with a concurrent skull base deficit. [ABSTRACT FROM AUTHOR]

Non-functional pituitary adenomas (NFPAs) are among the commonest intracranial neoplasms. While histologically benign, NFPAs sometimes become large enough to limit therapeutic options and reduce quality of life. Investigations of the molecular etiology of NFPAs have failed to identify prevalent genetic changes and, while a role for p53 has been suggested, TP53 gene alterations have yet to be described in NFPAs. We found that the polymorphism rs1042522:C > G in codon 72 of exon 4 of the TP53 gene, whose C variant produces a proline and is more common in most ethnicities, has a G variant producing an arginine in 79.8% of NFPAs (n = 42; p