Papillary craniopharyngioma: a type of tumor primarily impairing the hypothalamus. A comprehensive anatomo-clinical characterization of 350 well-described cases

2021 ◽  
Author(s):  
Ruth Prieto ◽  
Laura Barrios ◽  
José M. Pascual
Keyword(s):  
High Risk ◽  
Tumor Recurrence ◽  
Psychiatric Symptoms ◽  
Third Ventricle ◽  
Hypothalamic Syndrome ◽  
Psychiatric Disturbances ◽  
Histological Variant ◽  
Major Predictor ◽  
Papillary Type ◽  
Tumor Topography

Objective: Papillary craniopharyngiomas (PCPs) represent a rare histological variant of craniopharyngiomas (CPs) usually involving the hypothalamus. This study systematically analyzes the clinical-anatomical correlation between tumor topography and symptoms related to hypothalamic dysfunction in the largest series of PCPs ever gathered. Methods: From 5,346 CP reports published from 1856 to 2021, we selected 350 well-described cases of the squamous-papillary type. Clinical presentation, tumor topography, severity of hypothalamic adhesion, patient outcome and tumor recurrence were thoroughly analyzed. Results: PCPs predominantly occur in adult (96.3%), male (61.7%) patients presenting with headache (63.4%), visual alterations (56.2%) and psychiatric disturbances (50.4%). Most PCPs are solid (50%), round (50%) lesions that occupy the third ventricle (3V, 94.8%) and show low-risk severity adhesions to the hypothalamus (66.8%). Two major topographical categories can be found: strictly 3V (57.5%), growing above an intact 3V floor (3VF) and not-strictly or infundibulo-tuberal (32.9%), expanding at the infundibulum and/or tuber cinereum. The hypothalamic syndrome predominated among strictly 3V PCPs (p<0.001). Psychiatric symptoms (p<0.001) and high-risk hypothalamic attachments (p=0.031) related to unfavorable postoperative outcomes among patients treated from 2006 onwards. The not-strictly 3V topography was identified as the major predictor of high-risk hypothalamic attachments (71.2% correctly predicted), which, along with incomplete tumor removal (p=0.018), underlies the higher tumor recurrence of this topography (p=0.001). Conclusions: This systematic review evidences that PCP topography is a major determinant of hypothalamic-related symptoms, type of hypothalamic attachments and tumor recurrence rate. Accurate preoperative definition of PCP-hypothalamus relationships is essential for the judicious, safe management of these complex lesions.

scholarly journals Harvey Cushing’s craniopharyngioma treatment: Part 1. Identification and clinicopathological characterization of this challenging pituitary tumor

2019 ◽  
Vol 131 (3) ◽  
pp. 949-963 ◽  
Author(s):  
José María Pascual ◽  
Ruth Prieto ◽  
Laura Barrios
Keyword(s):  
Third Ventricle ◽  
Age Distribution ◽  
Clinical Signs ◽  
Clinical Manifestations ◽  
High Rate ◽  
Harvey Cushing ◽  
Psychiatric Disturbances ◽  
Histological Variant ◽  
Hypothalamic Injury ◽  
Hypothalamic Pituitary Axis

OBJECTIVEHarvey Cushing (1869–1939) coined the term “craniopharyngioma” (CP) in 1929 to describe a kaleidoscopic group of epithelial tumors involving the hypothalamic-pituitary axis. Throughout his career, he endured a long struggle to accurately diagnose and safely remove these complex lesions, and his resulting surgical series has never before been analyzed in depth. The authors here conduct such an analysis.METHODSIn this study, the authors retrospectively examined the CP patient records available in the Cushing Brain Tumor Registry, as well as those CP cases reported by Cushing in medical monographs and scientific reports.RESULTSCushing’s CP series comprises a total of 124 tumors (CP124) compatible with a CP diagnosis. Among this series are 92 cases that could be pathologically verified (CP92). This subcohort showed a bimodal age distribution (41% aged ≤ 19 years old) and a balanced sex distribution. Clinical evolution up to diagnosis was longer than 3 years in half of the patients. Typical symptoms found at diagnosis were severe headache (94%), visual deficits (97%), panhypopituitarism (76%), psychiatric disturbances (47%), and abnormal somnolence (47%). The highest rate of endocrine deficits occurred in patients younger than 19 years of age (p < 0.001), whereas hypothalamic disturbances were observed mainly in adults between 30 and 49 years (p = 0.02). Hydrocephalus was present in 63% of the patients, predominantly involving the younger subgroup (p < 0.001). Preoperative diagnosis was based on clinical signs, funduscopic exams, and skull radiographs, the latter study showing suprasellar calcifications in 64% of cases. The majority of tumors (61%) had developed within the third ventricle (3V) or had invaded it. The adamantinomatous histological variant was the predominant one (73%). Squamous-papillary CPs occurred only in adults older than 40 years of age (p < 0.001). Strong CP adherences to the hypothalamus were demonstrated in 63% of cases. The infundibulo-tuberal and sellar/suprasellar–3V CP topographies were associated with the highest rates of hypothalamic dysfunction before surgery (p < 0.001), surgical hypothalamic injury (p < 0.001), and severe postoperative morbidity and/or mortality (p = 0.009). Both topographies showed the strongest adherences to the hypothalamus and 3V (p < 0.001).CONCLUSIONSCushing’s CP series comprises severely ill patients with tumors in the late stages of progression, with a high rate of tumors developing primarily within the hypothalamus (infundibulo-tuberal CPs) or invading this structure from the sellar/suprasellar regions. Craniopharyngioma topography was the fundamental variable influencing the clinical manifestations, tumor features, and patient outcomes in this series.

scholarly journals Circulating tumor DNA as a prognostic marker in high-risk endometrial cancer

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Weiwei Feng ◽  
Nan Jia ◽  
Haining Jiao ◽  
Jun Chen ◽  
Yan Chen ◽  
...  
Keyword(s):  
Endometrial Cancer ◽  
High Risk ◽  
Tumor Recurrence ◽  
Disease Free Survival ◽  
Circulating Tumor Dna ◽  
Plasma Samples ◽  
Free Survival ◽  
Tumor Relapse ◽  
Disease Free ◽  
Tumor Dna

Abstract Background Currently, there is no reliable blood-based marker to track tumor recurrence in endometrial cancer (EC) patients. Liquid biopsies, specifically, circulating tumor DNA (ctDNA) analysis emerged as a way to monitor tumor metastasis. The objective of this study was to examine the feasibility of ctDNA in recurrence surveillance and prognostic evaluation of high-risk EC. Methods Tumor tissues from nine high-risk EC patients were collected during primary surgery and tumor DNA was subjected to next generation sequencing to obtain the initial mutation spectrum using a 78 cancer-associated gene panel. Baseline and serial post-operative plasma samples were collected and droplet digital PCR (ddPCR) assays for patient-specific mutations were developed to track the mutations in the ctDNA in serial plasma samples. Log-rank test was used to assess the association between detection of ctDNA before or after surgery and disease-free survival. Results Somatic mutations were identified in all of the cases. The most frequent mutated genes were PTEN, FAT4, ARID1A, TP53, ZFHX3, ATM, and FBXW7. For each patient, personalized ddPCR assays were designed for one-to-three high-frequent mutations. DdPCR analysis and tumor panel sequencing had a high level of agreement in the assessment of the mutant allele fractions in baseline tumor tissue DNA. CtDNA was detected in 67% (6 of 9) of baseline plasma samples, which was not predictive of disease-free survival (DFS). CtDNA was detected in serial post-operative plasma samples (ctDNA tracking) of 44% (4 of 9) of the patients, which predicted tumor relapse. The DFS was a median of 9 months (ctDNA detected) versus median DFS undefined (ctDNA not detected), with a hazard ratio of 17.43 (95% CI, 1.616–188.3). The sensitivity of post-operative ctDNA detection in estimating tumor relapse was 100% and specificity was 83.3%, which was superior to CA125 or HE4. Conclusions Personalized ctDNA detection was effective and stable for high-risk EC. CtDNA tracking in post-operative plasma is valuable for predicting tumor recurrence.

scholarly journals Dissecting autism and schizophrenia through neuroimaging genomics

Brain ◽  
2021 ◽  
Author(s):  
Clara A Moreau ◽  
Armin Raznahan ◽  
Pierre Bellec ◽  
Mallar Chakravarty ◽  
Paul M Thompson ◽  
...  
Keyword(s):  
High Risk ◽  
Psychiatric Symptoms ◽  
Clinical Manifestations ◽  
Autism Spectrum ◽  
Case Control ◽  
Effect Sizes ◽  
Case Control Studies ◽  
Top Down ◽  
Bottom Up ◽  
Genomic Variants

Abstract Neuroimaging genomic studies of autism spectrum disorder and schizophrenia have mainly adopted a ‘top-down’ approach, starting with the behavioural diagnosis, and moving down to intermediate brain phenotypes and underlying genetic factors. Advances in imaging and genomics have been successfully applied to increasingly large case-control studies. As opposed to diagnostic-first approaches, the bottom-up strategy starts at the level of molecular factors enabling the study of mechanisms related to biological risk, irrespective of diagnoses or clinical manifestations. The latter strategy has emerged from questions raised by top-down studies: Why are mutations and brain phenotypes over-represented in individuals with a psychiatric diagnosis? Are they related to core symptoms of the disease or to comorbidities? Why are mutations and brain phenotypes associated with several psychiatric diagnoses? Do they impact a single dimension contributing to all diagnoses? In the review, we aimed at summarizing imaging genomic findings in autism and schizophrenia as well as neuropsychiatric variants associated with these conditions. Top-down studies of autism and schizophrenia identified patterns of neuroimaging alterations with small effect-sizes and an extreme polygenic architecture. Genomic variants and neuroimaging patterns are shared across diagnostic categories suggesting pleiotropic mechanisms at the molecular and brain network levels. Although the field is gaining traction; characterizing increasingly reproducible results, it is unlikely that top-down approaches alone will be able to disentangle mechanisms involved in autism or schizophrenia. In stark contrast with top-down approaches, bottom-up studies showed that the effect-sizes of high-risk neuropsychiatric mutations are equally large for neuroimaging and behavioural traits. Low specificity has been perplexing with studies showing that broad classes of genomic variants affect a similar range of behavioral and cognitive dimensions, which may be consistent with the highly polygenic architecture of psychiatric conditions. The surprisingly discordant effect sizes observed between genetic and diagnostic first approaches underscore the necessity to decompose the heterogeneity hindering case-control studies in idiopathic conditions. We propose a systematic investigation across a broad spectrum of neuropsychiatric variants to identify putative latent dimensions underlying idiopathic conditions. Gene expression data on temporal, spatial and cell type organization in the brain have also considerable potential for parsing the mechanisms contributing to these dimensions phenotypes. While large neuroimaging genomic datasets are now available in unselected populations, there is an urgent need for data on individuals with a range of psychiatric symptoms and high-risk genomic variants. Such efforts together with more standardized methods will improve mechanistically informed predictive modeling for diagnosis and clinical outcomes.

scholarly journals Endoscopic monoportal removal of a choroid plexus papilloma in the posterior third ventricle in a child

2015 ◽  
Vol 16 (1) ◽  
pp. 107-111 ◽  
Author(s):  
Albert A. Sufianov ◽  
Saidi S. K. Gaibov ◽  
Rinat A. Sufianov
Keyword(s):  
Choroid Plexus ◽  
Tumor Recurrence ◽  
Third Ventricle ◽  
Brain Mri ◽  
Choroid Plexus Papilloma ◽  
Male Infant ◽  
Invasive Technique ◽  
Endoscopic Removal ◽  
Who Grade

Currently, only a few reports describe the minimally invasive removal of choroid plexus papillomas (CPPs) and, to the best of the authors' knowledge, no reports detail the resection of such a papilloma through an endoscopic approach in infants. The authors here describe the endoscopic removal of a third ventricle CPP in a child. A 5-month-old male infant presented with progressive macrocephaly, vomiting, and convulsions. A lesion in the posterior third ventricle was detected on brain MRI. Because of the patient's very young age, neuroendoscopy was used as the least invasive technique. The tumor was completely resected through a monoportal neuroendoscopic approach. Histologically, the tumor was classified as a WHO Grade I CPP. After surgery, the patient's condition improved, with no complications during his recovery. Ten-month follow-up neuroimaging revealed no evidence of tumor recurrence or progressive hydrocephaly. In view of the successful neuroendoscopic excision of this posterior third ventricle CPP, the authors believe that this method seems promising in the treatment of young children with intraventricular lesions.

Contralateral breast cancer and tumor recurrence in BRCA1/2 carriers and non-carriers at a high risk of hereditary breast cancer after bilateral mastectomy

2020 ◽  
Vol 98 (10) ◽  
pp. 612-617
Author(s):  
Marta Allué Cabañuz ◽  
María Domingo Bretón ◽  
Jorge Chóliz Ezquerro ◽  
María Dolores Arribas del Amo ◽  
Antonio Tomás Güemes Sánchez
Keyword(s):  
Breast Cancer ◽  
High Risk ◽  
Hereditary Breast Cancer ◽  
Tumor Recurrence ◽  
Contralateral Breast Cancer ◽  
Contralateral Breast ◽  
Bilateral Mastectomy

Subtle neuropsychiatric symptoms of glioblastoma multiforme misdiagnosed as depression

2020 ◽  
Vol 13 (3) ◽  
pp. e233208
Author(s):  
Raphael Jerome Leo ◽  
Jill N Frodey ◽  
Matthew L Ruggieri
Keyword(s):  
Glioblastoma Multiforme ◽  
Psychiatric Symptoms ◽  
Late Onset ◽  
Neuropsychiatric Symptoms ◽  
Diagnostic Assessment ◽  
Atypical Symptoms ◽  
Presenting Symptoms ◽  
Primary Brain Tumours ◽  
Psychiatric Disturbances

Glioblastoma multiforme (GBM) is the most common of the aggressive primary brain tumours arising in adults and has a dire prognosis. Neuropsychiatric symptoms can vary significantly among afflicted persons; psychiatric disturbances may be the predominant presenting symptoms. Distinguishing between functional psychiatric disorders, particularly depression, from other subtle neuropsychiatric disturbances that may accompany GBM can be challenging. The authors present a clinical case and review of the literature in an attempt to highlight the special considerations that should be taken into account when evaluating patients who present with late-onset or atypical symptoms, refractory psychiatric symptoms, or subtle neurological disturbances signalling the need for diagnostic assessment, particularly neuroimaging, for the presence of a tumour. Early diagnosis is critical for improvement in quality of life.

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