Unique Finding of a Primary Central Nervous System Neuroendocrine Carcinoma in a 5-Year-Old Child: A Case Report

Abstract

Neuroendocrine tumors (NETs) are rare neoplasms predominantly arising in the gastrointestinal-tract or the lungs of adults. To date, only ten cases of primary central nervous system (CNS) NETs have been reported, with just three of them describing a neuroendocrine carcinoma (NECA) and none occurring in a child. We report on a previously healthy 5-year-old boy, who presented with headaches, nausea and vomiting, and was diagnosed with a left cerebellar solid mass with a cystic component. After gross-total resection, histology revealed a neuroendocrine carcinoma. Molecular analysis of the tumor tissue showed a KRAS-splice-site mutation (c451-3C > T). The KRAS-mutation was discovered to be a maternal germline mutation, previously described as likely benign. After extensive search for an extracranial primary tumor, including Ga-68 DOTANOC-PET-CT, the diagnosis of a primary CNS NECA was established, and proton irradiation was performed. Unfortunately, the patient developed an in-field recurrence just 5 weeks after the end of radiotherapy. The tumor was re-resected with vital tumor tissue. Six cycles of chemotherapy were initiated, consisting of cisplatin, carboplatin, etoposide and ifosfamide. The patient remains disease free 22 months after the end of treatment, supporting the beneficial effect of platinum- and etoposide-based chemotherapy for this tumor entity.

Primary Neuroendocrine Carcinoma of the Cerebellopontine Angle: A Case Report and Literature Review

“…These cells are found diffusely throughout different organs and are well described throughout the gastrointestinal tract, the respiratory tract, and the central nervous system (CNS) [16][17]. Many epithelial cells and their progenitors may be differentiated in neuroendocrine cells and originate NETs in various anatomical locations including the pineal gland [8], sellar and hypothalamus, cavernous sinus, frontal convexity third ventricle, and CPA (Table 1) [1][2][3][4][5][6][7][8][9][10]. Neuroendocrine cells are naturally involved in the coordination of neurotransmitter-initiated synthesis and the release of biologically active substances.…”

“…Primary intracranial NECs are rarely mentioned in the literature, accounting for only 11 cases until the preparation of this manuscript (Table 1) [1][2][3][4][5][6][7][8][9][10]. The first case was described by Porter et al, in 2000 [1].…”

“…Rarely, these tumors can occur intracranially. There are nine reported cases with a primary origin in the central nervous system (CNS) [1][2][3][4][5][6][7][8][9][10]. The cerebellopontine angle (CPA) location has been reported in only one previous case [1].…”

Primary Neuroendocrine Carcinoma of Pineal Gland With Extensive Meningeal Metastasis Detected by 18F-NOTATATE PET/CT

“…The patient then underwent chemotherapy. Primary intracranial NETs are rare, accounting for less than 1% of reported NETs 3–6 . Primary NEC in the pineal region is even rarer 7,8 .…”

“…The patient then underwent chemotherapy. Primary intracranial NETs are rare, accounting for less than 1% of reported NETs [3][4][5][6]. Primary NEC in the pineal region is even rarer.7,8 18 F-NOTATATE is a promising radiotracer with good biodistribution characteristics and safety and yields high tumor-to-background ratio for NET lesions 1,9,10.…”