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BMJ Case Reports Aug 2021Pituitary apoplexy is caused by haemorrhage or infarction of the pituitary gland. Presenting signs and symptoms often include severe headache, visual disturbance,...
Pituitary apoplexy is caused by haemorrhage or infarction of the pituitary gland. Presenting signs and symptoms often include severe headache, visual disturbance, ophthalmoplegia, altered consciousness and impaired pituitary function. The management of pituitary apoplexy has very rarely been described during pregnancy and there is no existing data for further pregnancies of affected women. We present a case of a woman with a recurrent pituitary apoplexy due to haemorrhages in a pituitary adenoma in her third and fourth pregnancies. In both pregnancies, the pituitary apoplexy was managed conservatively, but due to therapy-resistant headaches, a preterm delivery was implemented.
Topics: Adenoma; Female; Headache; Humans; Magnetic Resonance Imaging; Pituitary Apoplexy; Pituitary Gland; Pituitary Neoplasms; Pregnancy
PubMed: 34380676
DOI: 10.1136/bcr-2021-242353 -
Brain Tumor Pathology Jan 2022Although ependymomas (EPNs) have similar histopathology, they are heterogeneous tumors with diverse immunophenotypes, genetics, epigenetics, and different clinical...
Although ependymomas (EPNs) have similar histopathology, they are heterogeneous tumors with diverse immunophenotypes, genetics, epigenetics, and different clinical behavior according to anatomical locations. We reclassified 141 primary EPNs from a single institute with immunohistochemistry (IHC) and next-generation sequencing (NGS). Supratentorial (ST), posterior fossa (PF), and spinal (SP) EPNs comprised 12%, 41%, and 47% of our cohort, respectively. Fusion genes were found only in ST-EPNs except for one SP-EPN with ZFTA-YAP1 fusion, NF2 gene alterations were found in SP-EPNs, but no driver gene was present in PF-EPNs. Surrogate IHC markers revealed high concordance rates between L1CAM and ZFTA-fusion and H3K27me3 loss or EZHIP overexpression was used for PFA-EPNs. The 7% cut-off of Ki-67 was sufficient to classify EPNs into two-tiered grades at all anatomical locations. Multivariate analysis also delineated that a Ki-67 index was the only independent prognostic factor in both overall and progression-free survivals. The gain of chromosome 1q and CDKN2A/2B deletion were associated with poor outcomes, such as multiple recurrences or extracranial metastases. In this study, we propose a cost-effective schematic diagnostic flow of EPNs by the anatomical location, three biomarkers (L1CAM, H3K27me3, and EZHIP), and a cut-off of a 7% Ki-67 labeling index.
Topics: Ependymoma; Humans; Infratentorial Neoplasms; Ki-67 Antigen; Neural Cell Adhesion Molecule L1; Oncogene Proteins; Prognosis; Spinal Neoplasms; Supratentorial Neoplasms
PubMed: 34812989
DOI: 10.1007/s10014-021-00417-y -
The Pan African Medical Journal 2023Acromegaly is defined as an acquired dysmorphytic syndrome due to excessive secretion of growth hormone (GH) and consequently of insulin-like growth factor-1 (IGF-1)....
Acromegaly is defined as an acquired dysmorphytic syndrome due to excessive secretion of growth hormone (GH) and consequently of insulin-like growth factor-1 (IGF-1). This is a retrospective study of patients who were hospitalized in the Endocrinology Department of the Mohammed V Military Academic Hospital in Rabat over a period of 14 years (2008 to 2022), reporting on their clinical, paraclinical and evolutionary profiles and comparing the results with the data in the literature. Nineteen patients were included in our study. The mean age was 42.7 ± 11.6 years, with a male predominance. The clinical manifestations were dominated by a dysmorphic syndrome present in 97.4% of cases, followed by complications related to acromegaly in 88.9% of cases. The diagnosis was made when GH and IGF-1 values were elevated in 88.9% and 93.8% of cases, respectively; with a mean GH value of 25.1 μg/L. Magnetic resonance imaging (MRI) was used to diagnose the location of pituitary adenoma in all cases, 78.9% of which were macroadenomas and 21.1% microadenomas. The majority of patients (78.9%) had recourse to transsphenoidal surgery. Medical treatment was carried out in 89.5% of cases. Postoperative radiotherapy was performed in 33% of cases. Disease control was achieved in 30.1% of cases. This study shows the complex management of acromegaly. Disease control is a necessary condition in order to avoid complications, but is often difficult to obtain.
Topics: Humans; Male; Adult; Middle Aged; Female; Acromegaly; Insulin-Like Growth Factor I; Retrospective Studies; Treatment Outcome; Human Growth Hormone; Pituitary Neoplasms
PubMed: 38465009
DOI: 10.11604/pamj.2023.46.116.41952 -
Current Oncology (Toronto, Ont.) Feb 2022Craniopharyngiomas are rare, benign primary brain tumors that arise from remnants of the craniopharyngeal duct epithelium within the sellar and suprasellar region.... (Review)
Review
Craniopharyngiomas are rare, benign primary brain tumors that arise from remnants of the craniopharyngeal duct epithelium within the sellar and suprasellar region. Despite their benign biology, they may cause significant morbidity, secondary to involvement of nearby eloquent neural structures, such as the pituitary gland, hypothalamus, and optic apparatus. Historically, aggressive surgical resection was the treatment goal to minimize risk of tumor recurrence via open transcranial midline, anterolateral, and lateral approaches, but could lead to clinical sequela of visual, endocrine, and hypothalamic dysfunction. However, recent advances in the endoscopic endonasal approach over the last decade have mostly supplanted transcranial surgery as the optimal surgical approach for these tumors. With viable options for adjuvant radiation therapy, targeted medical treatment, and alternative minimally invasive surgical approaches, the management paradigm for craniopharyngiomas has shifted from aggressive open resection to more minimally invasive but maximally safe resection, emphasizing quality of life issues, particularly in regards to visual, endocrine, and hypothalamic function. This review provides an update on current multi-modal approaches for craniopharyngiomas, highlighting the modern surgical treatment paradigm for this disease entity.
Topics: Adult; Craniopharyngioma; Humans; Neoplasm Recurrence, Local; Pituitary Neoplasms; Quality of Life
PubMed: 35323318
DOI: 10.3390/curroncol29030118 -
Acta Neuropathologica Mar 2021Two distinct genetically defined entities of ependymoma arising in the supratentorial compartment are characterized by the presence of either a C11orf95-RELA or a...
Two distinct genetically defined entities of ependymoma arising in the supratentorial compartment are characterized by the presence of either a C11orf95-RELA or a YAP-MAMLD1 fusion, respectively. There is growing evidence that supratentorial ependymomas without these genetic features exist. In this study, we report on 18 pediatric non-RELA/non-YAP supratentorial ependymomas that were systematically characterized by means of their histology, immunophenotype, genetics, and epigenomics. Comprehensive molecular analyses included high-resolution copy number analysis, methylation profiling, analysis of fusion transcripts by Nanostring technology, and RNA sequencing. Based upon histological and immunohistochemical features two main patterns were identified-RELA-like (n = 9) and tanycytic ependymomas (n = 6). In the RELA-like group histologically assigned to WHO grade III and resembling RELA-fused ependymomas, tumors lacked nuclear expression of p65-RelA as a surrogate marker for a pathological activation of the NF-κB pathway. Three tumors showed alternative C11orf95 fusions to MAML2 or NCOA1. A methylation-based brain tumor classifier assigned two RELA-like tumors to the methylation class "EP, RELA-fusion"; the others demonstrated no significant similarity score. Of the tanycytic group, 5/6 tumors were assigned a WHO grade II. No gene fusions were detected. Methylation profiling did not show any association with an established methylation class. We additionally identified two astroblastoma-like tumors that both presented with chromothripsis of chromosome 22 but lacked MN1 breaks according to FISH analysis. They revealed novel fusion events involving genes in chromosome 22. One further tumor with polyploid cytogenetics was interpreted as PFB ependymoma by the brain tumor methylation classifier but had no relation to the posterior fossa. Clinical follow-up was available for 16/18 patients. Patients with tanycytic and astroblastoma-like tumors had no relapse, while 2 patients with RELA-like ependymomas died. Our data indicate that in addition to ependymomas discovered so far, at least two more supratentorial ependymoma types (RELA-like and tanycytic) exist.
Topics: Adaptor Proteins, Signal Transducing; Adolescent; Child; Child, Preschool; Ependymoma; Female; Humans; Infant; Male; Supratentorial Neoplasms; Transcription Factor RelA; Transcription Factors; YAP-Signaling Proteins
PubMed: 33481105
DOI: 10.1007/s00401-020-02260-5 -
Neurology India 2022Despite the evolution of endoscopic techniques, large pituitary adenomas with unfavorable characteristics and irregular anatomical configurations continue to pose a...
BACKGROUND
Despite the evolution of endoscopic techniques, large pituitary adenomas with unfavorable characteristics and irregular anatomical configurations continue to pose a challenge for the dexterity, skills, and patience of endoscopic surgeons. Transcranial surgery retains a significant role in these situations where the tumor access, hemostasis, and dissection around adjoining neurovascular tissues can be controlled efficaciously.
OBJECTIVE
In this report, we describe our experience with transcranial surgery for pituitary adenomas highlighting its safety and versatility in peripheral centers.
METHODS
We accessed the case files and imaging records of pituitary tumors operated between 2001 and 2019 at a private hospital in a major Indian city. The records were analyzed with emphasis on postoperative clinical course, visual, and endocrinological outcomes. The data was analyzed with respect to differences between transcranial and transsphenoidal procedures. Categorical variables were compared with Chi-square test/Fischer's exact test and difference in means evaluated with Welch's t-test.
RESULTS
A total of 178 procedures were performed in 173 patients with pituitary adenoma, who were the subjects of this study. Ninety-eight (56.7%) patients were treated by transsphenoidal excision whereas 80 (46.2%) underwent transcranial procedures (75 primary and five secondary). In the patients operated transcranially, we observed three deaths and nine patients suffered from significant morbidity. Visual outcomes were similar to the group operated transsphenoidally. However, incidence of panhypopituitarism was significantly higher in transcranial procedures; the extent of resection was poorer than transsphenoidal surgeries owing to more extensive nature of tumors.
CONCLUSIONS
In low-volume centers, the endoscopic skills required for transsphenoidal resection of large and complex pituitary adenomas may be scarce. Transcranial surgery, dependent on familiar microsurgical techniques and equipment, may still be viable, safe, and an effective option.
Topics: Humans; Pituitary Neoplasms; Neurosurgery; Sphenoid Bone; Microsurgery; Treatment Outcome; Retrospective Studies; Adenoma
PubMed: 36352606
DOI: 10.4103/0028-3886.359173 -
Frontiers in Endocrinology 2023Growth hormone (GH)/thyroid stimulating hormone (TSH) cosecreting pituitary adenoma (PA) is an exceedingly rare kind of bihormonal pituitary neuroendocrine tumors...
BACKGROUND
Growth hormone (GH)/thyroid stimulating hormone (TSH) cosecreting pituitary adenoma (PA) is an exceedingly rare kind of bihormonal pituitary neuroendocrine tumors (PitNETs). Its clinical characteristics have rarely been reported.
OBJECTIVES
This study aimed to summarize the clinical characteristics and experience of diagnosis and treatment among patients with mixed GH/TSH PAs from a single center.
METHODS
We retrospectively reviewed GH/TSH cosecreting PAs from 2063 patients diagnosed with GH-secreting PAs admitted to Peking Union Medical College Hospital between January 1, 2010, and August 30, 2022, to investigate the clinical characteristics, hormone detection, imaging findings, treatment patterns and outcomes of follow-up. We further compared these mixed adenomas with age- and sex-matched cases of GH mono-secreting PAs (GHPAs). The data of the included subjects were collected using electronic records from the hospital's information system.
RESULTS
Based on the inclusion and exclusion criteria, 21 GH/TSH cosecreting PAs were included. The average age of symptom onset was 41.6 ± 14.9 years old, and delayed diagnosis occurred in 57.1% (12/21) of patients. Thyrotoxicosis was the most common complaint (10/21, 47.6%). The median inhibition rates of GH and TSH in octreotide suppression tests were 79.1% [68.8%, 82.0%] and 94.7% [88.2%, 97.0%], respectively. All these mixed PAs were macroadenomas, and 23.8% (5/21) of them were giant adenomas. Comprehensive treatment strategies comprised of two or more therapy methods were applied in 66.7% (14/21) of patients. Complete remission of both GH and TSH was accomplished in one-third of cases. In the comparison with the matched GHPA subjects, the mixed GH/TSH group presented with a higher maximum diameter of the tumor (24.0 [15.0, 36.0] mm . 14.7 [10.8, 23.0] mm, P = 0.005), a greater incidence of cavernous sinus invasion (57.1% . 23.8%, P = 0.009) and a greater difficulty of long-term remission (28.6% . 71.4%, P <0.001). In addition, higher occurrence rates of arrhythmia (28.6% . 2.4%, P = 0.004), heart enlargement (33.3% . 4.8%, P = 0.005) and osteopenia/osteoporosis (33.3% . 2.4%, P = 0.001) were observed in the mixed PA group.
CONCLUSION
There are great challenges in the treatment and management of GH/TSH cosecreting PA. Early diagnosis, multidisciplinary therapy and careful follow-up are required to improve the prognosis of this bihormonal PA.
Topics: Humans; Adult; Middle Aged; Pituitary Neoplasms; Thyrotropin; Growth Hormone; Retrospective Studies; Adenoma; Human Growth Hormone; Treatment Outcome
PubMed: 37324275
DOI: 10.3389/fendo.2023.1197244 -
World Neurosurgery Jan 2023The literature includes many studies examining the genetic abnormalities that influence pituitary adenomas (PAs). We aimed to state the collective knowledge on the... (Review)
Review
BACKGROUND
The literature includes many studies examining the genetic abnormalities that influence pituitary adenomas (PAs). We aimed to state the collective knowledge on the genetic underpinnings of PAs by organizing, summarizing, and consolidating the literature to serve as a comprehensive review for scientists and clinicians of the most up-to-date information underlying the genetic landscape of PAs.
METHODS
The PubMed and Google Scholar databases were searched using multiple key words and combined Medical Subject Headings terms; only articles published in English between January 2000 and January 2022 were included. Articles in which the focus did not relate to genetics, that included mainly anecdotal evidence, or that were single case studies were eliminated.
RESULTS
PAs are one of the most common intracranial neoplasms. However, the genetic underpinnings for these tumors are not yet fully elucidated. There are several categories of PAs: clinically significant versus not clinically significant, functional versus nonfunctional, and germline-derived versus sporadic origin. Each of these disease subcategories is characterized by unique genetic aberrations. Recently, more genes and other types of genetic aberrations have been identified as possible causes of PAs, such as copy number variations and altered levels of microRNAs.
CONCLUSIONS
This review serves to consolidate and summarize the literature discussing the genetic motifs of PAs to help physicians and scientists deliver patient-centered therapies.
Topics: Humans; Pituitary Neoplasms; DNA Copy Number Variations; Adenoma; MicroRNAs; PubMed
PubMed: 36115566
DOI: 10.1016/j.wneu.2022.09.036 -
Pituitary Jun 2023To describe quality and outcomes of patient-reported outcome (PRO) measures (PROMs) used in patients with refractory hormone-producing pituitary adenomas, and to provide... (Review)
Review
PURPOSE
To describe quality and outcomes of patient-reported outcome (PRO) measures (PROMs) used in patients with refractory hormone-producing pituitary adenomas, and to provide an overview of PROs in these challenging pituitary adenomas.
METHODS
Three databases were searched for studies reporting on refractory pituitary adenomas. For the purpose of this review, refractory adenomas were defined as tumors resistant to primary therapy. General risk of bias was assessed using a component approach and the quality of PROM reporting was assessed using the International Society for Quality of Life Research (ISOQOL) criteria.
RESULTS
20 studies reported on PROMs in refractory pituitary adenomas, using 14 different PROMs, of which 4 were disease specific (median general risk of bias score: 33.5% (range 6-50%) and ISOQOL score: 46% (range 29-62%)). SF-36/RAND-36 and AcroQoL were most frequently used. Health-related quality of life in refractory patients (measured by AcroQoL, SF-36/Rand-36, Tuebingen CD-25, and EQ-5D-5L) varied greatly across studies, and was not always impaired compared to patients in remission.
CONCLUSION
There is a scarcity of data on PROs in the subset of pituitary adenomas that is more difficult to treat, e.g., refractory and these patients are difficult to isolate from the total cohort. The patients' perspective on quality of life, therefore, remains largely unknown in refractory patients. Thus, PROs in refractory pituitary adenomas require adequate analysis using properly reported disease specific PROMs in large cohorts to enable appropriate interpretation for use in clinical practice.
Topics: Humans; Pituitary Neoplasms; Quality of Life; Adenoma; Patient Reported Outcome Measures; Hormones
PubMed: 37014498
DOI: 10.1007/s11102-023-01309-4 -
Tidsskrift For Den Norske Laegeforening... Jun 2023Tumours in the pituitary fossa region can be resected by endoscopic transnasal surgery using a four-hands technique. The technique, which is atraumatic, safe and...
Tumours in the pituitary fossa region can be resected by endoscopic transnasal surgery using a four-hands technique. The technique, which is atraumatic, safe and minimally invasive, should be the first-line treatment for pituitary tumours and certain skull-base tumours.
Topics: Humans; Pituitary Neoplasms; Endoscopy
PubMed: 37341404
DOI: 10.4045/tidsskr.22.0693