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Orphanet Journal of Rare Diseases Mar 2022Craniopharyngioma (CP) and cranial fibrous dysplasia (CFD) are rare embryonic benign cranial diseases that most commonly present during childhood or adolescence. The... (Review)
Review
BACKGROUND
Craniopharyngioma (CP) and cranial fibrous dysplasia (CFD) are rare embryonic benign cranial diseases that most commonly present during childhood or adolescence. The coexistence of CP and CFD is extremely rare and has not yet been reported.
METHODS
We retrospectively reviewed the data of five patients with concomitant CP and CFD treated at Beijing Tiantan Hospital from January 2003 to January 2021 and summarized their clinicopathological features, treatment modalities, and outcomes. We also performed a comprehensive literature review, tested the patients for characteristic GNAS gene mutations related to CFD, and tested the CP specimens for corresponding Gsα protein to explore the potential connection leading to the coexistence of CP and CFD.
RESULTS
The cohort comprised four men and one woman (median age, 39 years). The symptoms mainly included headache, dizziness, fatigue, polyuria/polydipsia, hypogonadism, and blurred vision. CFD most commonly involved the sphenoid bone (n = 4). Four patients underwent surgery to remove the CP (one trans-sphenoidal and three transcranial resections); complete and subtotal resection were achieved in two patients, respectively. The tumor subtype was adamantinomatous in three patients and unknown in one. The common postoperative complications were panhypopituitarism, diabetes insipidus, and hypothyroidism. The mean follow-up duration was 57.2 months. Two patients required postoperative hormone replacement therapy. Three patients underwent genetic study of the tumor specimens; GNAS mutations were not detected, but these patients were positive for Gsα protein.
CONCLUSIONS
Although a definite causative relationship has not been proved, the coexistence of CP and CFD means that potential interplay or an atypical fibrous dysplasia course as uncommon manifestations of CP cannot be excluded. It is more challenging to initiate prompt diagnosis and appropriate treatment for concomitant CP and CFD than for solitary CP because of skull base deformations. Current management strategies are aimed at surgical treating the CP and regularly monitoring the CFD.
Topics: Adolescent; Adult; Craniopharyngioma; Female; Fibrous Dysplasia of Bone; Humans; Male; Pituitary Neoplasms; Retrospective Studies; Skull
PubMed: 35303908
DOI: 10.1186/s13023-022-02281-1 -
Frontiers in Endocrinology 2024Prolactinomas (PRLomas) constitute approximately half of all pituitary adenomas and approximately one-fifth of them are diagnosed in males. The clinical presentation of... (Review)
Review
Prolactinomas (PRLomas) constitute approximately half of all pituitary adenomas and approximately one-fifth of them are diagnosed in males. The clinical presentation of PRLomas results from direct prolactin (PRL) action, duration and severity of hyperprolactinemia, and tumor mass effect. Male PRLomas, compared to females, tend to be larger and more invasive, are associated with higher PRL concentration at diagnosis, present higher proliferative potential, are more frequently resistant to standard pharmacotherapy, and thus may require multimodal approach, including surgical resection, radiotherapy, and alternative medical agents. Therefore, the management of PRLomas in men is challenging in many cases. Additionally, hyperprolactinemia is associated with a significant negative impact on men's health, including sexual function and fertility potential, bone health, cardiovascular and metabolic complications, leading to decreased quality of life. In this review, we highlight the differences in pathogenesis, clinical presentation and treatment of PRLomas concerning the male sex.
Topics: Female; Male; Humans; Prolactinoma; Hyperprolactinemia; Quality of Life; Pituitary Neoplasms; Adenoma
PubMed: 38370355
DOI: 10.3389/fendo.2024.1338345 -
Endocrine Reviews Sep 2023The vital physiological role of the pituitary gland, alongside its proximity to critical neurovascular structures, means that pituitary adenomas can cause significant...
The vital physiological role of the pituitary gland, alongside its proximity to critical neurovascular structures, means that pituitary adenomas can cause significant morbidity or mortality. While enormous advancements have been made in the surgical care of pituitary adenomas, numerous challenges remain, such as treatment failure and recurrence. To meet these clinical challenges, there has been an enormous expansion of novel medical technologies (eg, endoscopy, advanced imaging, artificial intelligence). These innovations have the potential to benefit each step of the patient's journey, and ultimately, drive improved outcomes. Earlier and more accurate diagnosis addresses this in part. Analysis of novel patient data sets, such as automated facial analysis or natural language processing of medical records holds potential in achieving an earlier diagnosis. After diagnosis, treatment decision-making and planning will benefit from radiomics and multimodal machine learning models. Surgical safety and effectiveness will be transformed by smart simulation methods for trainees. Next-generation imaging techniques and augmented reality will enhance surgical planning and intraoperative navigation. Similarly, surgical abilities will be augmented by the future operative armamentarium, including advanced optical devices, smart instruments, and surgical robotics. Intraoperative support to surgical team members will benefit from a data science approach, utilizing machine learning analysis of operative videos to improve patient safety and orientate team members to a common workflow. Postoperatively, neural networks leveraging multimodal datasets will allow early detection of individuals at risk of complications and assist in the prediction of treatment failure, thus supporting patient-specific discharge and monitoring protocols. While these advancements in pituitary surgery hold promise to enhance the quality of care, clinicians must be the gatekeepers of the translation of such technologies, ensuring systematic assessment of risk and benefit prior to clinical implementation. In doing so, the synergy between these innovations can be leveraged to drive improved outcomes for patients of the future.
Topics: Humans; Pituitary Neoplasms; Artificial Intelligence; Adenoma; Endoscopy
PubMed: 37207359
DOI: 10.1210/endrev/bnad014 -
Pituitary Jun 2022
Topics: Adenoma; Humans; Illusions; Pituitary Gland; Pituitary Neoplasms
PubMed: 35616761
DOI: 10.1007/s11102-022-01235-x -
Neuroendocrinology 2022Pituitary neuroendocrine tumors (PitNETs) are the most common intracranial neoplasms. Although generally benign, they can show a clinically aggressive course, with local... (Review)
Review
Pituitary neuroendocrine tumors (PitNETs) are the most common intracranial neoplasms. Although generally benign, they can show a clinically aggressive course, with local invasion, recurrences, and resistance to medical treatment. No universally accepted biomarkers of aggressiveness are available yet, and predicting clinical behavior of PitNETs remains a challenge. In rare cases, the presence of germline mutations in specific genes predisposes to PitNET formation, as part of syndromic diseases or familial isolated pituitary adenomas, and associates to more aggressive, invasive, and drug-resistant tumors. The vast majority of cases is represented by sporadic PitNETs. Somatic mutations in the α subunit of the stimulatory G protein gene (gsp) and in the ubiquitin-specific protease 8 (USP8) gene have been recognized as pathogenetic factors in sporadic GH- and ACTH-secreting PitNETs, respectively, without an association with a worse clinical phenotype. Other molecular factors have been found to significantly affect PitNET drug responsiveness and invasive behavior. These molecules are cytoskeleton and/or scaffold proteins whose alterations prevent proper functioning of the somatostatin and dopamine receptors, targets of medical therapy, or promote the ability of tumor cells to invade surrounding tissues. The aim of the present review is to provide an overview of the genetic and molecular alterations that can contribute to determine PitNET clinical behavior. Understanding subcellular mechanisms underlying pituitary tumorigenesis and PitNET clinical phenotype will hopefully lead to identification of new potential therapeutic targets and new markers predicting the behavior and the response to therapeutic treatments of PitNETs.
Topics: Humans; Neuroendocrine Tumors; Pituitary Neoplasms
PubMed: 33524974
DOI: 10.1159/000514862 -
Endocrinology and Metabolism (Seoul,... Dec 2023Pituitary neuroendocrine tumors (PitNETs) are the third most frequently diagnosed intracranial tumors, with nonfunctioning PitNETs (nfPitNETs) accounting for 30% of all... (Review)
Review
Pituitary neuroendocrine tumors (PitNETs) are the third most frequently diagnosed intracranial tumors, with nonfunctioning PitNETs (nfPitNETs) accounting for 30% of all pituitary tumors and representing the most common type of macroPitNETs. NfPitNETs are usually benign tumors with no evidence of hormone oversecretion except for hyperprolactinemia secondary to pituitary stalk compression. Due to this, they do not typically present with clinical syndromes like acromegaly, Cushing's disease or hyperthyroidism and instead are identified incidentally on imaging or from symptoms of mass effects (headache, vision changes, apoplexy). With the lack of effective medical interventions, first-line treatment is transsphenoidal surgical resection, however, nfPitNETs often have supra- or parasellar extension, and total resection of the tumor is often not possible, resulting in residual tumor regrowth or reoccurrence. While functional PitNETs can be easily followed for recurrence using hormonal biomarkers, there is no similar parameter to predict recurrence in nfPitNETs, hence delaying early recognition and timely management. Therefore, there is a need to identify prognostic biomarkers that can be used for patient surveillance and as therapeutic targets. This review focuses on summarizing the current evidence on nfPitNETs, with a special focus on potential new biomarkers and therapeutics.
Topics: Humans; Pituitary Neoplasms; Neuroendocrine Tumors; Adenoma; Acromegaly; Biomarkers
PubMed: 37964483
DOI: 10.3803/EnM.2023.1838 -
Revista Brasileira de Ginecologia E... May 2023Pituitary apoplexy refers to a rare clinical syndrome consisting of signs and symptoms that occur due to rapid expansion of the contents of the . It can occur... (Review)
Review
Pituitary apoplexy refers to a rare clinical syndrome consisting of signs and symptoms that occur due to rapid expansion of the contents of the . It can occur spontaneously or associated with pituitary tumors. It can have a broad clinical spectrum, but usually presents with severe headache, visual impairment and hypopituitarism. Sudden onset of symptoms associated to imagiologic confirmation makes the diagnosis. Surgical treatment is advised when there is important compression of the optic tract. We present a case report and a review of the literature on pituitary apoplexy in pregnancy. The cases were reviewed to obtain information on maternal characteristics, clinical presentation, diagnostic studies, therapeutic modalities and maternal and fetal outcomes. Our review found 36 cases of pituitary apoplexy in pregnancy. Most of the cases occurred in the second trimester of pregnancy and headache was the most frequent symptom at presentation. Surgical therapy was required in more than half of the patients. In what respect maternal and fetal outcomes, there were 3 cases of preterm delivery and one case of maternal death. Our clinical case and literature review reinforces the importance of an early diagnosis to avoid potential adverse consequences.
Topics: Pregnancy; Female; Infant, Newborn; Humans; Pituitary Apoplexy; Pituitary Neoplasms; Prenatal Care; Maternal Death; Headache
PubMed: 37339647
DOI: 10.1055/s-0043-1770128 -
Reviews in Endocrine & Metabolic... Jun 2020Surgery of aggressive pituitary adenomas and pituitary carcinomas is part of the interdisciplinary management of these difficult to treat tumors. Invasion, giant size... (Review)
Review
Surgery of aggressive pituitary adenomas and pituitary carcinomas is part of the interdisciplinary management of these difficult to treat tumors. Invasion, giant size and unusual, asymmetric extent of these tumors frequently require modifications or extensions of the standard approaches for transsphenoidal and transcranial surgery. Frequently, only debulking procedures can be performed. In aggressive and hormone secreting adenomas, the remission rates achieved by surgery alone are relatively poor and adjuvant medical treatments or irradiation are needed. Safe resection of as much tumor as possible and symptomatic control is aimed at, rather than remission. Many procedures are required for rapid progression of lesions or recurrences, in order to extend the survival of the patients. Metastases of pituitary carcinomas within the cranial cavity or spine can be attacked. Since they can occur anywhere in the brain or spinal canal they require the entire battery of neurosurgical approaches. Unfortunately, in this group of pituitary tumors, the complication rates are higher than in primary operations of enclosed adenomas. The respective techniques with their facilities and limitations are reviewed in this article.
Topics: Adenoma; Carcinoma; Humans; Neoplasm Invasiveness; Pituitary Neoplasms
PubMed: 32500483
DOI: 10.1007/s11154-020-09563-8 -
Neurology India 2020CNS tumours and their treatment commonly lead to endocrinopathies in children. Advances in surgical techniques, chemotherapy and radiotherapy have improved the survival... (Review)
Review
CNS tumours and their treatment commonly lead to endocrinopathies in children. Advances in surgical techniques, chemotherapy and radiotherapy have improved the survival in children with CNS tumours however they have also added to the late effect burden. Since the pituitary and hypothalamus regulate many important bodily functions, loss in their function leads to major derangements in growth and hormonal milieu. This article is a review of clinical presentation, diagnosis and management of endocrinopathies encountered in common sellar and supra-sellar CNS tumours in children. The management is divided into mainly two sections: immediate (peri and post-operative) and long term.
Topics: Child; Growth Disorders; Humans; Hypopituitarism; Pituitary Neoplasms
PubMed: 32611889
DOI: 10.4103/0028-3886.287676 -
AJNR. American Journal of Neuroradiology Apr 2022Pediatric supratentorial tumors such as embryonal tumors, high-grade gliomas, and ependymomas are difficult to distinguish by histopathology and imaging because of...
BACKGROUND AND PURPOSE
Pediatric supratentorial tumors such as embryonal tumors, high-grade gliomas, and ependymomas are difficult to distinguish by histopathology and imaging because of overlapping features. We applied machine learning to uncover MR imaging-based radiomics phenotypes that can differentiate these tumor types.
MATERIALS AND METHODS
Our retrospective cohort of 231 patients from 7 participating institutions had 50 embryonal tumors, 127 high-grade gliomas, and 54 ependymomas. For each tumor volume, we extracted 900 Image Biomarker Standardization Initiative-based PyRadiomics features from T2-weighted and gadolinium-enhanced T1-weighted images. A reduced feature set was obtained by sparse regression analysis and was used as input for 6 candidate classifier models. Training and test sets were randomly allocated from the total cohort in a 75:25 ratio.
RESULTS
The final classifier model for embryonal tumor-versus-high-grade gliomas identified 23 features with an area under the curve of 0.98; the sensitivity, specificity, positive predictive value, negative predictive value, and accuracy were 0.85, 0.91, 0.79, 0.94, and 0.89, respectively. The classifier for embryonal tumor-versus-ependymomas identified 4 features with an area under the curve of 0.82; the sensitivity, specificity, positive predictive value, negative predictive value, and accuracy were 0.93, 0.69, 0.76, 0.90, and 0.81, respectively. The classifier for high-grade gliomas-versus-ependymomas identified 35 features with an area under the curve of 0.96; the sensitivity, specificity, positive predictive value, negative predictive value, and accuracy were 0.82, 0.94, 0.82, 0.94, and 0.91, respectively.
CONCLUSIONS
In this multi-institutional study, we identified distinct radiomic phenotypes that distinguish pediatric supratentorial tumors, high-grade gliomas, and ependymomas with high accuracy. Incorporation of this technique in diagnostic algorithms can improve diagnosis, risk stratification, and treatment planning.
Topics: Brain Neoplasms; Child; Ependymoma; Glioma; Humans; Magnetic Resonance Imaging; Neoplasms, Germ Cell and Embryonal; Neuroectodermal Tumors, Primitive; Retrospective Studies; Supratentorial Neoplasms
PubMed: 35361575
DOI: 10.3174/ajnr.A7481