Pilocytic astrocytoma | |
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Other names | Juvenile pilocytic astrocytoma or Cystic cerebellar astrocytoma |
Micrograph of a pilocytic astrocytoma, showing characteristic bipolar cells with long pilocytic (hair-like) processes. Smear preparation. H&E stain. | |
Specialty | Neuro-oncology, neurosurgery |
Symptoms | lack of appropriate weight gain/ weight loss headaches nausea vomiting irritability torticollis difficulty to coordinate movements |
Usual onset | First 20 years of life |
Diagnostic method | MRI, CT scan |
Pilocytic astrocytoma (and its variant pilomyxoid astrocytoma) is a brain tumor that occurs most commonly in children and young adults (in the first 20 years of life). They usually arise in the cerebellum, near the brainstem, in the hypothalamic region, or the optic chiasm, but they may occur in any area where astrocytes are present, including the cerebral hemispheres and the spinal cord. These tumors are usually slow growing and benign, corresponding to WHO malignancy grade 1. [1]
Children affected by pilocytic astrocytoma can present with different symptoms that might include failure to thrive (lack of appropriate weight gain/ weight loss), headache, nausea, vomiting, irritability, torticollis (tilt neck or wry neck), difficulty to coordinate movements, and visual complaints (including nystagmus). The complaints may vary depending on the location and size of the neoplasm. The most common symptoms are associated with increased intracranial pressure due to the size of the tumor mass. [2]
Pilocytic astrocytoma can be associated with the genetic condition neurofibromatosis type 1 (NF1), and optic nerve gliomas are among the most frequently encountered tumors in patients with this disorder. The majority of pilocytic astrocytomas, however, arise sporadically – with no evidence of a link to an underlying hereditary predisposition or lifestyle factor. They are associated with genetic alterations in the MAPK/ERK pathway, most frequently a characteristic KIAA1549–BRAF fusion gene. [3] [4]
Usually – depending on the interview of the patient and after a clinical exam which includes a neurological exam and an ophthalmological exam – a CT scan and/or an MRI scan will be performed to confirm the presence of a tumor. They are usually easily distinguishable from normal brain structures using these imaging techniques. A special dye may be injected into a vein before these scans to provide contrast and make tumors easier to identify. Pilocytic astrocytomas are typically clearly visible on such scans, but it is often difficult to say based on imaging alone what type of tumor is present.
If a tumor is found, it will be necessary for a neurosurgeon to perform a biopsy of it. This involves the removal of a small amount of tumorous tissue, which is then sent to a (neuro)pathologist for examination and staging. [5] The biopsy may take place before surgical removal of the tumor, or the sample may be taken during surgery to remove the bulk of the tumor.
Pilocytic astrocytomas are often cystic tumors, and, if solid, tend to be well-circumscribed.
Under the microscope, the tumor is seen to be composed of bipolar cells with long "hair-like" GFAP-positive processes, giving the designation "pilocytic" (that is, made up of cells that look like fibers when viewed under a microscope [6] ). Some pilocytic astrocytomas may be more fibrillary and dense in composition. The presence of Rosenthal fibers, [7] eosinophilic granular bodies, and microcysts can often be seen. Myxoid foci and oligodendroglioma-like cells may also be present, though these are not specific to pilocytic astrocytoma. Long-standing lesions may show hemosiderin-laden macrophages and calcifications.
The most common form of treatment is having the tumor surgically removed. Complete removal of the tumor will generally allow functional survival for many years. [8] In particular for pilocytic astrocytomas (commonly indolent masses that may permit normal neurologic function), surgeons may decide to monitor the neoplasm's evolution and postpone surgical intervention for some time. However, total resection is often not possible. The location could prohibit access to the neoplasm and lead to incomplete or no resection at all. Left unattended, these tumors may eventually lead to further symptoms due to continued slow growth. Extremely rarely, they may also undergo malignant transformation.
If surgery is not possible, recommendations such as chemotherapy or radiation may be suggested. However, side effects from these treatments can be extensive and long term, resulting in some cases in life-long difficulties. This has been demonstrated to be true only in pediatric patients whereas further study needs to be done for adults. [9] [10]
After treatment, children with pilocytic astrocytoma may experience an improvement of symptoms related to the tumor itself depending on the location, but may also experience side effects related to the treatment:
In keeping with their assignment as WHO grade 1, pilocytic astrocytoma is not usually associated with recurrence after complete resection. The pilomyxoid astrocytoma variant may behave more aggressively than classic pilocytic astrocytoma, but this might also be associated with the younger age at presentation and their more frequent midline location.
In cases of progressive/recurrent disease or when maximal surgical removal has been achieved but some residual tumor remains, chemotherapy and/or radiation therapy may be considered by the medical team. [11]
Regularly updated statistics about the incidence, epidemiology, and survival outcomes of brain tumors can be found in the annual reports of the Central Brain Tumor Registry of the United States (CBTRUS). [12] These figures suggest that an average of just over 1,000 pilocytic astrocytomas are diagnosed per year in the US, representing about 1% of all CNS tumors. In children, however, the proportion is much higher. Pilocytic astrocytoma is the single most common childhood brain tumor, accounting for almost 20% of brain tumors diagnosed in 0–14 year-olds, with a peak incidence between 5–14 years of age. [13]
A brain tumor occurs when abnormal cells form within the brain. There are two main types of tumors: malignant (cancerous) tumors and benign (non-cancerous) tumors. These can be further classified as primary tumors, which start within the brain, and secondary tumors, which most commonly have spread from tumors located outside the brain, known as brain metastasis tumors. All types of brain tumors may produce symptoms that vary depending on the size of the tumor and the part of the brain that is involved. Where symptoms exist, they may include headaches, seizures, problems with vision, vomiting and mental changes. Other symptoms may include difficulty walking, speaking, with sensations, or unconsciousness.
A glioma is a type of tumor that starts in the glial cells of the brain or the spine. Gliomas comprise about 30 percent of all brain tumors and central nervous system tumours, and 80 percent of all malignant brain tumours.
Spinal tumors are neoplasms located in either the vertebral column or the spinal cord. There are three main types of spinal tumors classified based on their location: extradural and intradural. Extradural tumors are located outside the dura mater lining and are most commonly metastatic. Intradural tumors are located inside the dura mater lining and are further subdivided into intramedullary and extramedullary tumors. Intradural-intramedullary tumors are located within the dura and spinal cord parenchyma, while intradural-extramedullary tumors are located within the dura but outside the spinal cord parenchyma. The most common presenting symptom of spinal tumors is nocturnal back pain. Other common symptoms include muscle weakness, sensory loss, and difficulty walking. Loss of bowel and bladder control may occur during the later stages of the disease.
Oligodendrogliomas are a type of glioma that are believed to originate from the oligodendrocytes of the brain or from a glial precursor cell. They occur primarily in adults but are also found in children.
An ependymoma is a tumor that arises from the ependyma, a tissue of the central nervous system. Usually, in pediatric cases the location is intracranial, while in adults it is spinal. The common location of intracranial ependymomas is the fourth ventricle. Rarely, ependymomas can occur in the pelvic cavity.
Meningioma, also known as meningeal tumor, is typically a slow-growing tumor that forms from the meninges, the membranous layers surrounding the brain and spinal cord. Symptoms depend on the location and occur as a result of the tumor pressing on nearby tissue. Many cases never produce symptoms. Occasionally seizures, dementia, trouble talking, vision problems, one sided weakness, or loss of bladder control may occur.
Glioblastoma, previously known as glioblastoma multiforme (GBM), is the most aggressive and most common type of cancer that originates in the brain, and has a very poor prognosis for survival. Initial signs and symptoms of glioblastoma are nonspecific. They may include headaches, personality changes, nausea, and symptoms similar to those of a stroke. Symptoms often worsen rapidly and may progress to unconsciousness.
Astrocytoma is a type of brain tumor. Astrocytomas originate from a specific kind of star-shaped glial cell in the cerebrum called an astrocyte. This type of tumor does not usually spread outside the brain and spinal cord and it does not usually affect other organs. After glioblastomas, astrocytomas are the second most common glioma and can occur in most parts of the brain and occasionally in the spinal cord.
Oligoastrocytomas are a subset of brain tumors that present with an appearance of mixed glial cell origin, astrocytoma and oligodendroglioma. However, the term "Oligoastrocytoma" is now considered obsolete by the National Comprehensive Cancer Network stating "the term should no longer be used as such morphologically ambiguous tumors can be reliably resolved into astrocytomas and oligodendrogliomas with molecular testing."
A craniopharyngioma is a rare type of brain tumor derived from pituitary gland embryonic tissue that occurs most commonly in children, but also affects adults. It may present at any age, even in the prenatal and neonatal periods, but peak incidence rates are childhood-onset at 5–14 years and adult-onset at 50–74 years. People may present with bitemporal inferior quadrantanopia leading to bitemporal hemianopsia, as the tumor may compress the optic chiasm. It has a point prevalence around two per 1,000,000. Craniopharyngiomas are distinct from Rathke's cleft tumours and intrasellar arachnoid cysts.
A blastoma is a type of cancer, more common in children, that is caused by malignancies in precursor cells, often called blasts. Examples are nephroblastoma, medulloblastoma, and retinoblastoma. The suffix -blastoma is used to imply a tumor of primitive, incompletely differentiated cells, e.g., chondroblastoma is composed of cells resembling the precursor of chondrocytes.
Pleomorphic xanthoastrocytoma (PXA) is a brain tumor that occurs most frequently in children and teenagers. At Boston Children's Hospital, the average age at diagnosis is 12 years.
Neuro-oncology is the study of brain and spinal cord neoplasms, many of which are very dangerous and life-threatening. Among the malignant brain cancers, gliomas of the brainstem and pons, glioblastoma multiforme, and high-grade astrocytoma/oligodendroglioma are among the worst. In these cases, untreated survival usually amounts to only a few months, and survival with current radiation and chemotherapy treatments may extend that time from around a year to a year and a half, possibly two or more, depending on the patient's condition, immune function, treatments used, and the specific type of malignant brain neoplasm. Surgery may in some cases be curative, but, as a general rule, malignant brain cancers tend to regenerate and emerge from remission easily, especially highly malignant cases. In such cases, the goal is to excise as much of the mass and as much of the tumor margin as possible without endangering vital functions or other important cognitive abilities. The Journal of Neuro-Oncology is the longest continuously published journal in the field and serves as a leading reference to those practicing in the area of neuro-oncology.
Fibrillary astrocytomas are a group of primary slow-growing brain tumors that typically occur in adults between the ages of 20 and 50.
Anaplastic astrocytoma is a rare WHO grade III type of astrocytoma, which is a type of cancer of the brain. In the United States, the annual incidence rate for anaplastic astrocytoma is 0.44 per 100,000 people.
Subependymal giant cell astrocytoma is a low-grade astrocytic brain tumor (astrocytoma) that arises within the ventricles of the brain. It is most commonly associated with tuberous sclerosis complex (TSC). Although it is a low-grade tumor, its location can potentially obstruct the ventricles and lead to hydrocephalus.
Astroblastoma is a rare glial tumor derived from the astroblast, a type of cell that closely resembles spongioblastoma and astrocytes. Astroblastoma cells are most likely found in the supratentorial region of the brain that houses the cerebrum, an area responsible for all voluntary movements in the body. It also occurs significantly in the frontal lobe, parietal lobe, and temporal lobe, areas where movement, language creation, memory perception, and environmental surroundings are expressed. These tumors can be present in major brain areas not associated with the main cerebral hemispheres, including the cerebellum, optic nerve, cauda equina, hypothalamus, and brain stem.
Diffuse midline glioma, H3 K27-altered (DMG) is a fatal tumour that arises in midline structures of the brain, most commonly the brainstem, thalamus and spinal cord. When located in the pons it is also known as diffuse intrinsic pontine glioma (DIPG).
Angiocentric glioma (AG) refers to a rare neuroepithelial tumor when the superficial brain malignant cells enclose the brain vessels, commonly found in children and young adults. Initially identified in 2005 by Wang and his team from the University of Texas, AG was classified as Grade I by 2007 WHO Classification of Tumors of the Central Nervous System due to its benign clinical behavior, low proliferation index, and curative properties. AG primarily affects children and young adults at an average initial diagnosis age of 16 years old. Over 85% AG patients experience intractable seizures since childhood, especially partial epilepsy.
Thalamic gliomas are very rare, deep-seated, generally high-grade glial neoplasms that form in the thalamus, representing 1–5% of all pediatric brain tumors. Because of their difficult to reach position, they are a unique and difficult challenge for neuro-oncologists and neurosurgeons.
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