Diagnosis Of Choroid Plexus Carcinoma Research Articles

FRI256 The Clinical Impacts Of Bi-allelic Germline Pathogenic Variant In TP53 In Two Patients With Li-Fraumeni Syndrome

Abstract Disclosure: V. Petry: None. D. Cohn: None. R.R. Oppenheimer: None. M.D. Estevez-Diz: None. A. Latronico: None. B.B. Mendonca: None. M.Q. Almeida: None. M.C. Fragoso: None. Background: Li-Fraumeni syndrome is an autosomal dominant cancer predisposition due to a heterozygous germline TP53 mutation. This mutation is related to different types of cancer; mainly adrenocortical carcinomas (ACC), soft tissues and bone sarcomas, breast cancer, choroid plexus carcinoma and leukemias at early ages. Although little is known about the impact of this TP53 variant in the homozygous form. Methods: We described the clinical presentation and the follow-up of 2 patients with a TP53 (p.R337H) homozygous pathogenic variant inherited from their parents. Case 1: A two year old patient presented with a headache, vomiting and nuchal stiffness, and was taken to the ER where she had a CNS CT scan. The CT scan revealed a mass located at left intraventricular region She then had surgery to remove the tumor and the histological finding confirmed the diagnosis of choroid plexus carcinoma. She underwent adjuvant systemic chemotherapy Headstart III protocol. This was the first case of cancer within this family. The child was seen by a medical geneticist and a genetic test revealed a homozygous pathogenic variant (p.R337H) in TP53. Afterwards her parents were tested and both were heterozygous for the p.R337H mutation. The patient is now 4 years old and free of oncologic disease. Case 2: A 9 months old female patient presented with Cushing´s syndrome and heterosexual precocious puberty. The MRI revealed a right adrenal tumor and she underwent laparoscopic adrenalectomy. Oral hydrocortisone was initiated postoperatively as glucocorticoid replacement therapy and was gradually tapered off over 6 months. Both parents of the patient were heterozygous for the p.R337H mutation in TP53 and they reported several cases of cancer within the family. The patient inherited both mutated alleles TP53 p.R337H. She had normal puberty development and she reached the target height. The patient did not develop further neoplasms during long-term follow-up (23 years). Conclusions: We described 2 cases with a biallelic pathogenic variant in TP53 (p.R337H) who were diagnosed with cancer at early ages and who did not develop further neoplasms during the follow-up period. There is a previous case description in the literature of a patient with a homozygous p.R337H mutation in TP53 who developed ACC at an early age and he did not develop other neoplasms during 8 years of follow-up. These two cases draw your attention to the early age for the development of choroid plexus carcinoma and adrenocortical tumors as well as the published case by Giacomazzi et al. Whether the bi-allelic pattern of the TP53 variant influences the tumor’s behavior remains unclear, there are potentially broad implications for clinical surveillance and genetic counseling for patients and their families. Presentation: Friday, June 16, 2023

Choroid plexus carcinoma: A case report

Choroid plexus carcinoma is a rare aggressive malignant epithelial neoplasm (WHO grade III) arising from choroid plexus epithelium. It commonly occurs in children arising in lateral ventricles. This tumour has a tendency for recurrence and metastatic dissemination along cerebrospinal fluid (CSF) pathway. We report a case of 11 month old boy presenting with hydrocephalus, irritability and vomiting. Contrast enhanced computed tomography (CECT) brain and magnetic resonance imaging (MRI) brain with contrast revealed a mass lesion within right lateral ventricle and hydrocephalus. Surgical resection was done and the excised tissue was sent for cytology and histopathological examination and a diagnosis of choroid plexus carcinoma was made.

LINC-17. A single center retrospective analysis of pediatric intracranial choroid plexus carcinoma in Beijing

Objective: To explore the clinical characteristics and outcome in children with intracranial choroid plexus carcinoma in Beijing. Methods: We retrospectively analyzed 13 children with pathologically confirmed diagnosis of choroid plexus carcinoma between January 2017 and December 2021. They were treated with surgical resection followed by adjuvant therapies. Results: Male/female ratio=0.625(5:8). The median age at diagnosis was 1.2 years (range, 6 months to 9.8 years) with 9 cases < 3 years of age. Gross total resection was achieved in 12 cases (92.3%), and subtotal resection in 1 case. Seven patients received only adjuvant chemotherapy according to CPT-SIOP-2009 protocol, and 6 patients underwent radiotherapy with combined chemotherapy. Six patients developed a recurrence, and 4 cases died at last follow-up. Among 9 patients alive, 7 cases attained CR, 1 PR and 1 SD.The 5-year progression-free survival (PFS) and overall survival (OS) were (64.8±14.3) % and (68.4 ± 13.1) %, respectively. The survival of children treated under both irradiation and chemotherapy were higher than chemotherapy only (P<0.05). The cases < 3 years of age had worse survival than those ≥3 years (P<0.05), and the 4 cases died were all younger than 3 years old. Conclusions: Choroid plexus carcinoma is a rare and malignant brain tumor, and affects mainly younger children in our center. Surgical resection is the mainstream treatment. Adjuvant radiotherapy with combined chemotherapy and patients older than 3 years old tend to have better survival. Keywords: Choroid plexus carcinoma; Therapy; Survival.

RARE-26. RETROSPECTIVE ANALYSIS OF PEDIATRIC CHOROID PLEXUS TUMORS

BACKGROUNDChoroid 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.METHODWe 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.RESULTSOf 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.CONCLUSIONCompared 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.

MRI Findings in Choroid Plexus Carcinoma in Two Dogs

Abstract Due to technological advances in bio-imaging in the last years, magnetic resonance imaging (MRI) is widely used as a noninvasive and non-irradiant tool for assessment and imaging diagnosis. In this study are presented two dogs with progressive clinical and neurological manifestations, following the discovered signs (head tilt and circling in the first case, respective epileptic seizures and ataxia in the second case), MRI evaluation was recommended. The imaging exams showed the presence of a mass, located in the third ventricle, with heterogeneous signal changes in conventional sequences T1, T2 and FLAIR. Unifying the imaging data with those of the histopathological examination it was possible to establish the diagnosis of choroid plexus carcinoma in both cases.

Choroid plexus carcinoma in an adult

Choroid plexus carcinoma is a very rare tumor in adults. Here we report a rare case of choroid plexus carcinoma in an adult patient. A 24-year-old male presented with a right temporal intraventricular tumor with a cystic component also extending up to the cortex. Histological examination revealed complex papillary structures and glandular spaces showing stratification and multilayering of cells with nuclear crowding and numerous mitotic figures and large areas of necrosis. The patient went through a complete search for a possible primary keeping in mind the differential diagnosis of metastatic carcinoma that is more common in adults but there was no evidence of any other tumor. Finally a diagnosis of choroid plexus carcinoma was rendered. Immunohistochemical analysis for p53 protein showed positivity. Choroid plexus carcinoma is exceptionally rare in adults but cases do occur.

MGMT promoter methylation and temozolomide response in choroid plexus carcinoma

Choroid plexus carcinoma (CPC) is a malignant tumor with a strong tendency to spread along the cerebrospinal fluid pathway. There is no standardized chemotherapy protocol for this rare tumor. We report a 38-year-old man with CPC in the lateral ventricle with obstructive hydrocephalus. Because of the poor demarcation between thalamus and fornix, subtotal tumor resection was performed. Postoperative spine magnetic resonance (MR) image revealed whole spinal axis dissemination. After diagnosis of CPC, the patient was treated with whole ventricular and spine radiation concomitant with temozolomide chemotherapy, although the O(6)-methylguanine-DNA methyltransferase (MGMT) promoter was found to be unmethylated. Although MR images revealed transient stable disease during adjuvant therapy, tumor progression was depicted after four cycles of temozolomide therapy. We discuss the ineffectiveness of adjuvant temozolomide therapy for CPC in connection with O(6)-methylguanine-DNA methyltransferase promoter methylation.

Choroid plexus carcinoma in a cow

A red, firm 3.5x3.0x3.0cm mass was found within the right lateral ventricle, compressing the hippocampus and thalamus of the brain of a 4-year-old cow. The pituitary was enlarged and firm. Histologically, both the brain and pituitary masses consisted of moderately pleomorphic epithelial cells arranged as rosettes or sheets supported by a delicate fibrovascular stroma. Based on anatomical localization, histopathological and immunohistochemical findings, a diagnosis of choroid plexus carcinoma with pituitary metastasis was made.