RARE-18. GENETIC EVALUATION IN PATIENTS WITH CHOROID PLEXUS TUMORS

Abstract INTRODUCTION Choroid plexus tumors (CPT) are rare intraventricular neoplasms of epithelial origin. They usually occur in the 2nd year of life, corresponding to 0.4–0.6% of intracranial tumors in this age group. They are sub classified, according to WHO 2016, in choroid plexus carcinoma (CPC), atypical choroid plexus papilloma (ACPP) and choroid plexus papilloma (CPP). Li-Fraumeni syndrome (LFS) is present in 50% of patients with CPC. In Brazil, the TP53 p.R337H mutation affects 0.3% of the population in the South/Southeast. OBJECTIVE Evaluate the incidence of genetic mutations in patients with choroid plexus tumors and therefore the importance of genetic evaluation. PATIENTS AND METHODS Between 1992–2019, 38 patients were diagnosed with CPT in our institution, 23 with CPC. From 2012, 21 patients were referred for genetic evaluation, 16 of which had CPC (2 had previously CPP). Positive family history for neoplasms was present in 87.5%; 37.5% compatible with LFS, 50% of them with mutations. All the patients with positive, but unspecific, family history of neoplasms, had pathogenic mutation. The molecular investigation of the TP53 gene in patients with CPC was performed and positive in 56.2%: R337H (5 patients), R110C, R158H, H179R, R196* (1 patient each). Of those with R337H, p53 protein immunohistochemistry resulted in 90–100% positivity. One of the patients with CPP that evolved to CCP had the H179R mutation. Clinical course was similar among them, and with those without mutations. CONCLUSION These results confirm the need for genetic evaluation in patients with choroid plexus tumors for adequate therapeutic management and long-term follow-up.

Download Full-text

RARE-26. RETROSPECTIVE ANALYSIS OF PEDIATRIC CHOROID PLEXUS TUMORS

Neuro-Oncology ◽

10.1093/neuonc/noaa222.737 ◽

2020 ◽

Vol 22 (Supplement_3) ◽

pp. iii447-iii448

Author(s):

Yoshiko Nakano ◽

Atsufumi Kawamura ◽

Yuko Watanabe ◽

Ryuta Saito ◽

Masayuki Kanemori ◽

...

Keyword(s):

Choroid Plexus ◽

Survival Rates ◽

Choroid Plexus Papilloma ◽

Clinical Information ◽

Local Relapse ◽

Current Status ◽

Choroid Plexus Tumors ◽

Li Fraumeni Syndrome ◽

Plexus Papilloma

Abstract BACKGROUND Choroid plexus tumors (CPT) include choroid plexus papilloma (CPP), atypical choroid plexus papilloma (aCPP), and choroid plexus carcinoma (CPC). Because of their rarity, limited data are available on the current status of treatment and outcomes for pediatric CPTs. METHOD We retrospectively reviewed clinical information on patients with CPT patients aged between 0 and 30 years at diagnosis and were treated in 8 institutions in Japan. RESULTS Of forty-two cases initially diagnosed as CPT, 18 cases were reviewed by central pathologists. As a result, the diagnosis of CPC or aCPP in five cases were changed to other tumors including AT/RT and astroblastoma. The remaining 37 cases were subjected to analysis. Median age at diagnosis was two years (0 to 25) and the mean follow-up period was seven years. All 26 patients with CPP (n=20) or aCPP (n=6) underwent gross-total resection without adjuvant therapy. Of them 24 patients are alive without recurrence. Four patients of patients with CPC (n=11) died of cancer. Five patients including three patients experienced local relapse, achieved complete remission after resection of tumor plus chemoradiotherapy. All three patients with dissemination of CPC at diagnosis or relapse died of the disease. At least three patients were diagnosed with Li-Fraumeni syndrome: one died of medulloblastoma and one patient developed osteosarcoma. CONCLUSION Compared with the excellent prognosis of CPP, the survival rates for CPC, especially disseminated CPC are unsatisfactory. Our results also underline the importance of considering genetic testing of TP53 for patients with CPC.

Download Full-text

Choroid plexus tumours

10.1093/med/9780199651870.003.0006 ◽

2017 ◽

Author(s):

Maria Santos ◽

Eric Bouffet ◽

Carolyn Freeman ◽

Mark M. Souweidane

Keyword(s):

Choroid Plexus ◽

Choroid Plexus Papilloma ◽

Choroid Plexus Carcinoma ◽

Adjuvant Radiation ◽

Li Fraumeni Syndrome ◽

Central Nervous System Tumours ◽

Histological Criteria ◽

Wide Range ◽

Plexus Papilloma

Choroid plexus tumours are rare, intraventricular, primary central nervous system tumours derived from the choroid plexus epithelium. They occur predominantly in children and are classified based on histological criteria as choroid plexus papilloma, atypical choroid plexus papilloma, and choroid plexus carcinoma. Choroid plexus carcinomas can occur in the context of Li–Fraumeni syndrome, where the TP53 germline mutation predisposes patients to a wide range of neoplasms. Treatment of these tumours is challenging, due to their high vascularity and the young age of the patients. While surgery is the mainstay of treatment of all choroid plexus tumours, the exact role of adjuvant therapy, particularly in choroid plexus carcinoma, is still unclear. For incompletely resected tumours, there is evidence that neoadjuvant chemotherapy can facilitate second-look surgery and reduce the risk of intraoperative bleeding. However, the role of adjuvant radiation after complete resection remains unclear.

Download Full-text

Choroid Plexus Papilloma with Dandy Walker Variant: Co-existence or Association- A Case Report

Bangladesh Medical Journal ◽

10.3329/bmj.v46i2.40222 ◽

2019 ◽

Vol 46 (2) ◽

pp. 61-65

Author(s):

Mohammad Hossain ◽

Nazmin Ahmed ◽

Narendra Shalike ◽

Md Rokibul Islam ◽

Soumen Samadder ◽

...

Keyword(s):

Choroid Plexus ◽

Choroid Plexus Papilloma ◽

Communicating Hydrocephalus ◽

Intermediate Form ◽

Genetic Syndromes ◽

Who Grade ◽

Choroid Plexus Tumors ◽

Well Differentiated ◽

Central Nervous Sytem ◽

Plexus Papilloma

Choroid plexus tumors are rare intracranial tumors which account for 0.4-0.6% of all brain tumors. Choroid plexus tumors represent a spectrum of neoplasms derived from papillary epithelium of normal choroid plexus, including well-differentiated papilloma (WHO grade I), intermediate form as atypical Choroid Plexus Papilloma (WHO grade II) and highly aggressive choroid plexus carcinomas (WHO grade III). Though rare, it is responsible for the communicating hydrocephalus in children due to overproduction of cerebrospinal fluid. Due to advances in molecular biology and better understanding of the tumorigenesis of choroid plexus papilloma, now it is established that several genetic syndromes and central nervous sytem abnormalities are associated with this tumor. Here, we reported a case of a 10 months old child who presented with sudden deterioration of consciousness level and after thorough evaluation, diagnosed as a case of Choroid Plexus Papilloma with Dandy Walker Variant. Till date, this is the first reported case of the association/ co-existence of such two conditions which needs further evaluation. Bangladesh Med J. 2017 May; 46 (2): 61-65

Download Full-text

Synchronous choroid plexus papilloma and Wilms tumor in a girl, disclosing a Li-Fraumeni syndrome

Hereditary Cancer in Clinical Practice ◽

10.1186/s13053-020-00158-7 ◽

2021 ◽

Vol 19 (1) ◽

Author(s):

Ofelia Cruz ◽

Victoria Caloretti ◽

Hector Salvador ◽

Veronica Celis ◽

Vicente Santa-Maria ◽

...

Keyword(s):

Choroid Plexus ◽

Tp53 Mutation ◽

Wilms Tumor ◽

Brain Mri ◽

Choroid Plexus Papilloma ◽

Multiple Primary Cancers ◽

Histopathological Analysis ◽

Li Fraumeni Syndrome ◽

Li Fraumeni ◽

Plexus Papilloma

Abstract 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.

Download Full-text

Choroid plexus adenoma in a child: expanding the clinical and pathological spectrum

Journal of Neurosurgery Pediatrics ◽

10.3171/2017.10.peds17290 ◽

2018 ◽

Vol 21 (4) ◽

pp. 428-433 ◽

Cited By ~ 1

Author(s):

Nicole Prendergast ◽

Jeffrey D. Goldstein ◽

Alexandra D. Beier

Keyword(s):

Differential Diagnosis ◽

Choroid Plexus ◽

Choroid Plexus Papilloma ◽

Choroid Plexus Tumors ◽

Plexus Papilloma

Primary choroid plexus tumors encompass a variety of tumors, with choroid plexus papilloma and carcinoma being the most common. Also in the differential diagnosis is the rare benign choroid plexus adenoma. As these tumors are infrequently described, the histological profile continues to evolve. The authors present a case with unusual characteristics that will broaden the pathological spectrum for choroid plexus adenomas.

Download Full-text