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Hereditary Cancer in Clinical Practice Jan 2021Li-Fraumeni Syndrome (LFS) is a cancer predisposition syndrome characterized by the early-onset of multiple primary cancers which can occur at different moments...
BACKGROUND
Li-Fraumeni Syndrome (LFS) is a cancer predisposition syndrome characterized by the early-onset of multiple primary cancers which can occur at different moments (metachronous onset) or, more rarely, coincidentally (synchronous onset). Here we describe a previously unreported patient with presentation of synchronous Wilms tumor and Choroid plexus papilloma, leading to the diagnosis of a Li-Fraumeni Syndrome (LFS).
CASE PRESENTATION
A 6-year-old girl without previous complains presented with abdominal pain. Abdominal US and MRI showed a left renal tumor with subcapsular hematoma. Due to mild headaches, the diagnostic workup included a brain MRI that unexpectedly identified a large left parietal lobe tumor. Histopathological analysis determined the diagnosis of classic Wilms tumor and choroid-plexus papilloma (CPP), respectively. Both neoplasms showed intense nuclear p53 immunostaining associated with the pathogenic TP53 mutation c.844C > T (p.Arg282Trp). Our patient and her father shared the same heterozygous germline TP53 mutation, confirming the diagnosis of familiar Li-Fraumeni syndrome in the girl. The treatment was tailored to simultaneous tumor presentations.
CONCLUSIONS
LFS has been associated with Choroid plexus carcinoma (CPC), but rarely with CPP as in our patient. That suggests that it may be advisable to consider the possibility of analyzing TP53 mutation, not only in all patients with CPC, but also in some patients with CPP, especially when histological or clinical evidences point out to perform this study. The dissimilar presentation of LFS among our patient's father, not having so far any neoplasia diagnosed, while her daughter presented precociously with two simultaneous different tumors, could be related to possible effects of modifier genes on the underlying mutant p53 genotype.
PubMed: 33407742
DOI: 10.1186/s13053-020-00158-7 -
Asian Journal of Neurosurgery 2017Choroid plexus tumors are rare intracranial tumors which account for only 0.4-0.6% of all brain tumors. These are intraventricular papillary neoplasms derived from...
Choroid plexus tumors are rare intracranial tumors which account for only 0.4-0.6% of all brain tumors. These are intraventricular papillary neoplasms derived from choroid plexus epithelium and range from choroid plexus papillomas (World Health Organisation (WHO) grade I) to choroid plexus carcinomas (WHO grade III). It is an important albeit rare cause of hydrocephalous. We present to you the case of a 1-year-old child who presented with the signs and symptoms of hydrocephalous and was diagnosed as choroid plexus papilloma on histopathology.
PubMed: 28413558
DOI: 10.4103/1793-5482.153501 -
Neurosurgical Review Dec 2021Choroid plexus papillomas (CPPs) are primary neuroectodermal neoplasms that usually arise in the fourth ventricle in adults. In this study, we present 12 patients with...
Choroid plexus papillomas (CPPs) are primary neuroectodermal neoplasms that usually arise in the fourth ventricle in adults. In this study, we present 12 patients with CPP arising from the cerebellopontine angle (CPP-CPA) and/or of the cerebellomedullary angle (CPP-CMA) that were treated in our department. Patients who underwent surgery for the treatment for CPP-CPA/CMA from January 2004 to March 2020 were identified by a computer search of their files from the Department of Neurosurgery, Tübingen. CPPs were classified according to their location into type 1 (tumor portion only in the CPA,), type 2 (tumor portions only in the CMA), and type 3 (tumor portions both in the CPA and CMA). Patients were evaluated for initial symptoms, previous therapies in other hospitals, extent of tumor resection, recurrence rate, and complications by reviewing patient documents. Of approximately 1500 CPA lesions, which were surgically treated in our department in the last 16 years, 12 patients (mean age 42 ± 19 years) were found to have CPP-CPA/CMA. Five were male, and seven were female patients. Gross total resection was achieved in nine cases, and a subtotal resection was attained in three cases. Tumor recurrence in the same location after the first surgery in our hospital was observed in 2 patients after 15 and 40 months of follow-up, and in another patient, distant metastases (C3/4 and L3 levels) were observed. Surgical removal of CPP is the treatment of choice, but additional therapeutic options may be necessary in case of remnant tumor portions, recurrence, or malignant transformation.
Topics: Adult; Cerebellopontine Angle; Choroid Plexus Neoplasms; Female; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Neoplasm Recurrence, Local; Neurosurgery; Neurosurgical Procedures; Papilloma, Choroid Plexus; Young Adult
PubMed: 33629235
DOI: 10.1007/s10143-021-01506-4 -
Journal of Neurosurgery. Case Lessons Jan 2022Choroid plexus tumors are rare neoplasms that are typically found in the lateral ventricles. They have infrequently been reported in the third ventricle, and treatment...
BACKGROUND
Choroid plexus tumors are rare neoplasms that are typically found in the lateral ventricles. They have infrequently been reported in the third ventricle, and treatment strategies have varied.
OBSERVATIONS
The authors described a 6-month-old patient who presented with irritability and hypotonia. The patient was found to have a large tumor in the third ventricle with obstructive hydrocephalus. Preoperative angiography revealed a feeding artery from the right medial posterior choroidal artery (MPChA). The feeding artery was effectively embolized, and the patient subsequently received open resection of the tumor. Pathology revealed features consistent with atypical choroid plexus papilloma (CPP).
LESSONS
Choroid plexus tumors are often hypervascular, which can often make gross total resection (GTR) difficult. Preoperative angiography of tumors identifies feeding vessels, and embolization has the potential to decrease perioperative blood loss and allow for a higher GTR rate. Third ventricular CPPs appear to invariably receive vascular supply from the MPChA, arising from the right posterior cerebral artery. Embolization followed by resection of a choroid plexus tumor in the third ventricle is an effective treatment strategy.
PubMed: 36130562
DOI: 10.3171/CASE21516 -
Current Health Sciences Journal 2021Choroid plexus papilloma (CPP) according to the latest WHO classification system in 2016 are an uncommon, benign (WHO grade I) neuroepithelial intraventricular tumor...
AIM
Choroid plexus papilloma (CPP) according to the latest WHO classification system in 2016 are an uncommon, benign (WHO grade I) neuroepithelial intraventricular tumor derived from choroid plexus epithelium, which can occur in both the pediatric and adult population. These tumors account for approximately 1% of all brain tumor 2-6% of pediatric brain tumors and 0.5% of adult brain tumors.
CASE PRESENTATION
A 2-year-old female is presented at the Pediatrics Clinic at the University Clinical Center of Kosovo in a febrile, lethargic state and the anterior fontanelle is tense and swollen. The patient's parents indicate that symptoms such as food refusal, apathy, speechlessness and low mood were presented a week earlier.
CONCLUSION
Choroid plexus papilloma is a rare tumor without specific clinical patterns or imaging findings. In our presentation we have presented the role of symptoms in the detected and diagnostic of choroid plexus papilloma. Not every headache is a symptom of choroid plexus papilloma.
PubMed: 34765254
DOI: 10.12865/CHSJ.47.02.24 -
Fluids and Barriers of the CNS May 2020The choroid plexus (CP) forming the blood-cerebrospinal fluid (B-CSF) barrier is among the least studied structures of the central nervous system (CNS) despite its... (Review)
Review
The choroid plexus (CP) forming the blood-cerebrospinal fluid (B-CSF) barrier is among the least studied structures of the central nervous system (CNS) despite its clinical importance. The CP is an epithelio-endothelial convolute comprising a highly vascularized stroma with fenestrated capillaries and a continuous lining of epithelial cells joined by apical tight junctions (TJs) that are crucial in forming the B-CSF barrier. Integrity of the CP is critical for maintaining brain homeostasis and B-CSF barrier permeability. Recent experimental and clinical research has uncovered the significance of the CP in the pathophysiology of various diseases affecting the CNS. The CP is involved in penetration of various pathogens into the CNS, as well as the development of neurodegenerative (e.g., Alzheimer´s disease) and autoimmune diseases (e.g., multiple sclerosis). Moreover, the CP was shown to be important for restoring brain homeostasis following stroke and trauma. In addition, new diagnostic methods and treatment of CP papilloma and carcinoma have recently been developed. This review describes and summarizes the current state of knowledge with regard to the roles of the CP and B-CSF barrier in the pathophysiology of various types of CNS diseases and sets up the foundation for further avenues of research.
Topics: Animals; Central Nervous System Diseases; Cerebrospinal Fluid; Choroid Plexus; Homeostasis; Humans
PubMed: 32375819
DOI: 10.1186/s12987-020-00196-2 -
Journal of Neurosurgery. Case Lessons Nov 2022Choroid plexus papillomas are benign tumors of the choroid plexus. Although typically focal, they can metastasize. Rarely, patients may present with numerous cystic...
BACKGROUND
Choroid plexus papillomas are benign tumors of the choroid plexus. Although typically focal, they can metastasize. Rarely, patients may present with numerous cystic lesions throughout the craniospinal axis.
OBSERVATIONS
The authors present three cases of pathologically confirmed fourth ventricular World Health Organization (WHO) grade 1 choroid plexus papillomas presenting with numerous cystic lesions throughout the craniospinal axis. Two cases were treated with only resection of the fourth ventricular mass; one was treated with a partial cyst fenestration. During follow-up, there was only mild interval growth of the cystic lesions over time, and all patients remained asymptomatic from their cystic lesions. The authors summarize five additional cases of cystic dissemination in the published literature and discuss hypotheses for the pathophysiology of this rare presentation.
LESSONS
Choroid plexus papillomas may present with numerous, widely disseminated cystic lesions within the craniospinal axis. Thus, the authors recommend preoperative and routine imaging of the entire neuroaxis in patients with choroid plexus tumors, regardless of WHO grade. Although the role of adjuvant therapy and cyst fenestration in the treatment of these lesions remains unclear, watchful waiting may be indicated, especially in asymptomatic patients, because the lesions often demonstrate slow, if any, growth over time.
PubMed: 36377129
DOI: 10.3171/CASE22360 -
Asian Journal of Neurosurgery 2018Choroid plexus papilloma is a rare intracranial neoplasm. These lesions most commonly present in the fourth ventricle in adults and lateral ventricle in children....
Choroid plexus papilloma is a rare intracranial neoplasm. These lesions most commonly present in the fourth ventricle in adults and lateral ventricle in children. Herein, we report a case of a 57-year-old male with complaint of backache of few weeks duration. Magnetic resonance imaging revealed an intradural and extramedullary space occupying lesion at D8 level. Histology showed multiple free-floating papillae with a central fibrovascular core. The cells showed immunoreactivity for vimentin, glial fibrillary acidic protein, synaptophysin, S-100 protein, and cytokeratins (CK, CK7).
PubMed: 29492159
DOI: 10.4103/1793-5482.185067 -
Neurology India 2021
Topics: Choroid Plexus Neoplasms; Glioma; Humans; Papilloma, Choroid Plexus; Spine
PubMed: 34979726
DOI: 10.4103/0028-3886.333457