Cerebellar liponeurocytoma: a rare intracranial tumor with possible familial predisposition. Case report

Abstract

C erebellar liponeurocytomas are typically lowgrade tumors that arise in the cerebellar hemispheres or vermis and contain cells of neuronal, astrocytic, and lipomatous differentiation. 17 The biology and long-term outcomes of these tumors are undefined, and to our knowledge, familial occurrences have not been described. We present here the case of a young woman with a cerebellar liponeurocytoma and multiple immediate family members, including her mother, with similar lesions. This report describes the tumors from the patient and her mother and provides a brief overview of the histopathology and genetic changes associated with this disease. case report Clinical PresentationA 37-year-old woman presented with a 2-year history of worsening morning and daytime headaches in the occipital area that radiated over the cranium. She also described intermittent paresthesia in her hands and feet, which was of variable distribution and duration. The patient was otherwise healthy with a grossly normal neurological examination. She smoked cigarettes but had no other known medical problems. CT and MRI of the head and spine revealed a solitary fat-containing tumor arising from the region of the superior cerebellar hemisphere and vermis. The heterogeneous lesion had numerous ill-defined septations with patchy enhancement and measured 4.4 × 4.1 × 4.3 cm in the anterior-posterior, medial-lateral, and superior-inferior dimensions, respectively. It extended through the incisura and involved the tectal plate and several deep veins, including the left basal vein of Rosenthal. There was complete effacement of the fourth ventricle and compensated dilation of the third and lateral ventricles. There was displacement of the cerebellar tonsils through the foramen magnum, with compression of the cervicomedullary junction ( Fig. 1A and B).abbreviatioNs GFAP = glial fibrillary acidic protein; IDH1 = isocitrate dehydrogenase 1; MAP-2 = microtubule-associated protein 2; MIB-1 = monoclonal antihuman Ki 67. The biological origin of cerebellar liponeurocytomas is unknown, and hereditary forms of this disease have not been described. Here, the authors present clinical and histopathological findings of a young patient with a cerebellar liponeurocytoma who had multiple immediate family members who harbored similar intracranial tumors. A 37-year-old otherwise healthy woman presented with a history of progressive headaches. Lipomatous medulloblastoma had been diagnosed previously in her mother and maternal grandfather, and her maternal uncle had a supratentorial liponeurocytoma. MRI revealed a large, poorly enhancing, lipomatous mass emanating from the superior vermis that produced marked compression of posterior fossa structures. An uncomplicated supracerebellar infratentorial approach was used to resect the lesion. Genetic and histopathological analyses of the lesion revealed neuronal, glial, and lipomatous differentiation and confirmed the diagnosis of cerebellar liponeurocytoma. A comparison of the tumors resected from the patient and, 22 years previo...

Cerebellar Liponeurocytoma: A Rare Fatty Tumor and its Literature Review

“…[8] Recent reports also exist in the form of individual cases, the most common being in the infratentorial location. [910111213] Gembruch et al ., in a systematic review of all the reported cases ( n = 73) until 2018, noted that these tumors had low MIB-1 proliferation index (3.73 ± 4.01%). [14] Of the infratentorial location, the cerebellar hemisphere is the most common location.…”

“…In recent articles,[1011] a familial predisposition has been suggested with possibly an autosomal dominant mode of inheritance. However, a causative genetic mutation as well the cell of origin of liponeurocytoma is yet to be ascertained.…”

Cerebellar liponeurocytoma – a rare entity: a case report

“…In contrast to these findings, large cell/anaplastic medulloblastomas are associated with C-MYC or N-MYC amplifications [ 23 ]. Despite this, Wolf et al [ 24 ] and Pikis et al . [ 16 ] suggested an inheritable predisposition for tumor development.…”

Cerebellar liponeurocytoma with atypical histological features – a rare example of a glioneuronal tumor

“…It was first described in 1978 by Bechtel et al [2], and nearly 50 cases under several synonyms have been reported since [11,26,32,33]. In the 2000 World Health Organization (WHO) classification of Tumors of the Central Nervous System it was categorized for the first time as a distinct entity within the neuronal and mixed neuronal-glial tumors section.…”

“…also occur supratentorially. Single cases suggesting familial predisposition for such tumors have been published recently [26,33].…”