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Astrocytoma

MedGen UID:
438
Concept ID:
C0004114
Neoplastic Process
Synonym: Astrocytoma (excluding glioblastoma)
SNOMED CT: Astrocytoma (1157043006); Astrocytic glioma (1157043006); Astroglioma (1157043006)
 
HPO: HP:0009592
Monarch Initiative: MONDO:0019781
OMIM®: 137800

Definition

Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Astrocytoma in Orphanet.

Conditions with this feature

Neurofibromatosis, type 1
MedGen UID:
18013
Concept ID:
C0027831
Neoplastic Process
Neurofibromatosis 1 (NF1) is a multisystem disorder characterized by multiple café au lait macules, intertriginous freckling, multiple cutaneous neurofibromas, and learning disability or behavior problems. About half of people with NF1 have plexiform neurofibromas, but most are internal and not suspected clinically. Plexiform neurofibromas can cause pain, neurologic deficits, and abnormalities of involved or adjacent structures. Less common but potentially more serious manifestations include optic nerve and other central nervous system gliomas, malignant peripheral nerve sheath tumors, scoliosis, tibial dysplasia, vasculopathy, and gastrointestinal, endocrine, or pulmonary disease.
Neurofibromatosis, type 2
MedGen UID:
18014
Concept ID:
C0027832
Neoplastic Process
Neurofibromatosis 2 (NF2) is characterized by bilateral vestibular schwannomas with associated symptoms of tinnitus, hearing loss, and balance dysfunction. The average age of onset is 18 to 24 years. Almost all affected individuals develop bilateral vestibular schwannomas by age 30 years. Affected individuals may also develop schwannomas of other cranial and peripheral nerves, meningiomas, ependymomas, and, very rarely, astrocytomas. Because NF2 is considered an adult-onset disease, it may be underrecognized in children, in whom skin tumors and ocular findings (retinal hamartoma, thickened optic nerves, cortical wedge cataracts, third cranial nerve palsy) may be the first manifestations. Mononeuropathy that occurs in childhood is an increasingly recognized finding; it frequently presents as a persistent facial palsy or hand/foot drop.
Encephalocraniocutaneous lipomatosis
MedGen UID:
140807
Concept ID:
C0406612
Congenital Abnormality
Encephalocraniocutaneous lipomatosis (ECCL) comprises a spectrum of predominantly congenital anomalies. In its typical form, ECCL is characterized by congenital anomalies of the skin (nevus psiloliparus, patchy or streaky non-scarring alopecia, subcutaneous lipomas in the frontotemporal region, focal skin aplasia or hypoplasia on the scalp, and/or small nodular skin tags on the eyelids or between the outer canthus and tragus), eye (choristoma), and brain (in particular intracranial and spinal lipomas). To a much lesser degree, the bones and the heart can be affected. About 40% of affected individuals have bilateral abnormalities of the skin or the eyes. About one third of affected individuals have normal cognitive development, another one third have mild developmental delay (DD) or intellectual disability (ID), and the final one third have severe or unspecified DD/ID. Half of individuals have seizures. Affected individuals are at an increased (i.e., above the general population) risk of developing brain tumors, particularly low-grade gliomas such as pilocytic astrocytomas. There is evidence that oculoectodermal syndrome (OES) may constitute a clinical spectrum with ECCL, with OES on the mild end and ECCL on the more severe end of the spectrum.
Melanoma and neural system tumor syndrome
MedGen UID:
331890
Concept ID:
C1835042
Neoplastic Process
An extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma). Fewer than 20 affected families have been reported to date. Affected individuals had cutaneous melanoma in association with dysplastic nevi, astrocytoma, benign or malignant peripheral nerve sheath tumor, neurofibroma, medulloblastoma, glioblastoma multiforme, ependymoma, glioma, and meningioma. In some cases, melanoma was described first followed by nervous system tumors, and in other cases, melanoma was a secondary cancer. The etiology of this tumor association is unknown. Genetic mutations or germline deletions are thought to underlie this cancer susceptibility syndrome.
Tuberous sclerosis 1
MedGen UID:
344288
Concept ID:
C1854465
Disease or Syndrome
Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); brain (subependymal nodules, cortical tubers, and subependymal giant cell astrocytomas [SEGAs], seizures, intellectual disability / developmental delay, psychiatric illness); kidney (angiomyolipomas, cysts, renal cell carcinomas); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia). Central nervous system tumors are the leading cause of morbidity and mortality; renal disease is the second leading cause of early death.
Tuberous sclerosis 2
MedGen UID:
348170
Concept ID:
C1860707
Disease or Syndrome
Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); brain (subependymal nodules, cortical tubers, and subependymal giant cell astrocytomas [SEGAs], seizures, intellectual disability / developmental delay, psychiatric illness); kidney (angiomyolipomas, cysts, renal cell carcinomas); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia). Central nervous system tumors are the leading cause of morbidity and mortality; renal disease is the second leading cause of early death.
Familial adenomatous polyposis 1
MedGen UID:
398651
Concept ID:
C2713442
Disease or Syndrome
APC-associated polyposis conditions include (classic or attenuated) familial adenomatous polyposis (FAP) and gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS). FAP is a colorectal cancer (CRC) predisposition syndrome that can manifest in either classic or attenuated form. Classic FAP is characterized by hundreds to thousands of adenomatous colonic polyps, beginning on average at age 16 years (range 7-36 years). For those with the classic form of FAP, 95% of individuals have polyps by age 35 years; CRC is inevitable without colectomy. The mean age of CRC diagnosis in untreated individuals is 39 years (range 34-43 years). The attenuated form is characterized by multiple colonic polyps (average of 30), more proximally located polyps, and a diagnosis of CRC at a later age than in classic FAP. For those with an attenuated form, there is a 70% lifetime risk of CRC and the mean age of diagnosis is 50-55 years. Extracolonic manifestations are variably present and include polyps of the stomach and duodenum, osteomas, dental abnormalities, congenital hypertrophy of the retinal pigment epithelium (CHRPE), benign cutaneous lesions, desmoid tumors, adrenal masses, and other associated cancers. GAPPS is characterized by proximal gastric polyposis, increased risk of gastric adenocarcinoma, and no duodenal or colonic involvement in most individuals reported.
Glioma susceptibility 1
MedGen UID:
413414
Concept ID:
C2750850
Finding
Gliomas are central nervous system neoplasms derived from glial cells and comprise astrocytomas, glioblastoma multiforme, oligodendrogliomas, ependymomas, and subependymomas. Glial cells can show various degrees of differentiation even within the same tumor (summary by Kyritsis et al., 2010). Ependymomas are rare glial tumors of the brain and spinal cord (Yokota et al., 2003). Subependymomas are unusual tumors believed to arise from the bipotential subependymal cell, which normally differentiates into either ependymal cells or astrocytes. They were characterized as a distinct entity by Scheinker (1945). They tend to be slow-growing, noninvasive, and located in the ventricular system, septum pellucidum, cerebral aqueduct, or proximal spinal cord (summary by Ryken et al., 1994). Gliomas are known to occur in association with several other well-defined hereditary tumor syndromes such as mismatch repair cancer syndrome (see 276300), melanoma-astrocytoma syndrome (155755), neurofibromatosis-1 (NF1; 162200) and neurofibromatosis-2 (see SWNV, 101000), and tuberous sclerosis (TSC1; 191100). Familial clustering of gliomas may occur in the absence of these tumor syndromes, however. Genetic Heterogeneity of Susceptibility to Glioma Other glioma susceptibilities include GLM2 (613028), caused by variation in the PTEN gene (601728) on chromosome 10q23; GLM3 (613029), caused by variation in the BRCA2 gene (600185) on chromosome 13q13; GLM4 (607248), mapped to chromosome 15q23-q26.3; GLM5 (613030), mapped to chromosome 9p21; GLM6 (613031), mapped to chromosome 20q13; GLM7 (613032), mapped to chromosome 8q24; GLM8 (613033), mapped to chromosome 5p15; and GLM9, caused by variation in the POT1 gene (606478) on chromosome 7q31. Somatic mutation, disruption, or copy number variation of the following genes or loci may also contribute to the formation of glioma: ERBB (EGFR; 131550), ERBB2 (164870), LGI1 (604619), GAS41 (602116), GLI (165220), DMBT1 (601969), IDH1 (147700), IDH2 (147650), BRAF (164757), PARK2 (602544), TP53 (191170), RB1 (614041), PIK3CA (171834), 10p15, 19q, and 17p13.3.
Glioma susceptibility 3
MedGen UID:
442777
Concept ID:
C2751641
Finding
Any malignant glioma in which the cause of the disease is a mutation in the BRCA2 gene.
Familial adenomatous polyposis 4
MedGen UID:
934686
Concept ID:
C4310719
Disease or Syndrome
Familial adenomatous polyposis-4 is an autosomal recessive tumor predisposition syndrome characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer. Proliferative lesions in other tissues may also occur (summary by Adam et al., 2016). For a discussion of genetic heterogeneity of familial adenomatous polyposis, see FAP1 (175100).
Mismatch repair cancer syndrome 1
MedGen UID:
1748029
Concept ID:
C5399763
Disease or Syndrome
Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, ovary, stomach, small bowel, urinary tract, biliary tract, brain (usually glioblastoma), skin (sebaceous adenomas, sebaceous carcinomas, and keratoacanthomas), pancreas, and prostate. Cancer risks and age of onset vary depending on the associated gene. Several other cancer types have been reported to occur in individuals with Lynch syndrome (e.g., breast, sarcomas, adrenocortical carcinoma). However, the data are not sufficient to demonstrate that the risk of developing these cancers is increased in individuals with Lynch syndrome.
Mismatch repair cancer syndrome 3
MedGen UID:
1733656
Concept ID:
C5436807
Disease or Syndrome
Mismatch repair cancer syndrome-3 (MMRCS3) is an autosomal recessive childhood cancer predisposition syndrome characterized by brain tumors, hematologic malignancy, and gastrointestinal tumors. Multiple cafe-au-lait spots, axillary freckling, and, rarely, Lisch nodules reminiscent of neurofibromatosis type I (NF1; 162200) may be present (Hegde et al., 2005, Ostergaard et al., 2005). Microsatellite instability may be detected in tumor samples (Hegde et al., 2005). For a discussion of genetic heterogeneity of mismatch repair cancer syndrome, see MMRCS1 (276300).
Mismatch repair cancer syndrome 4
MedGen UID:
1745382
Concept ID:
C5436817
Disease or Syndrome
Mismatch repair cancer syndrome-4 (MMRCS4) is an autosomal recessive childhood cancer predisposition syndrome characterized by early-onset leukemia/lymphoma, brain tumors, colorectal/gastrointestinal cancers, and other rare malignancies, including rhabdomyosarcoma (summary by Li et al., 2015). Cafe-au-lait spots are usually present (De Vos et al., 2006). For a discussion of genetic heterogeneity of mismatch repair cancer syndrome, see MMRCS1 (276300).
Chordoma, susceptibility to
MedGen UID:
1787559
Concept ID:
C5441694
Finding

Professional guidelines

PubMed

Mohile NA, Messersmith H, Gatson NT, Hottinger AF, Lassman A, Morton J, Ney D, Nghiemphu PL, Olar A, Olson J, Perry J, Portnow J, Schiff D, Shannon A, Shih HA, Strowd R, van den Bent M, Ziu M, Blakeley J
J Clin Oncol 2022 Feb 1;40(4):403-426. Epub 2021 Dec 13 doi: 10.1200/JCO.21.02036. PMID: 34898238
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Neurosurg Rev 2019 Jun;42(2):371-388. Epub 2018 Feb 17 doi: 10.1007/s10143-018-0957-x. PMID: 29455369

Curated

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Central Nervous System Cancers, 2023

Recent clinical studies

Etiology

Wu PB, Filley AC, Miller ML, Bruce JN
Adv Exp Med Biol 2023;1405:31-71. doi: 10.1007/978-3-031-23705-8_2. PMID: 37452934
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Int J Mol Sci 2020 Nov 30;21(23) doi: 10.3390/ijms21239114. PMID: 33266110Free PMC Article
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J Neurosurg Sci 2019 Aug;63(4):450-457. Epub 2019 Mar 27 doi: 10.23736/S0390-5616.19.04701-5. PMID: 30916536
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Diagnosis

Hirtz A, Rech F, Dubois-Pot-Schneider H, Dumond H
Int J Mol Sci 2020 Nov 30;21(23) doi: 10.3390/ijms21239114. PMID: 33266110Free PMC Article
Salles D, Laviola G, Malinverni ACM, Stávale JN
J Child Neurol 2020 Oct;35(12):852-858. Epub 2020 Jul 20 doi: 10.1177/0883073820937225. PMID: 32691644
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Therapy

Majzner RG, Ramakrishna S, Yeom KW, Patel S, Chinnasamy H, Schultz LM, Richards RM, Jiang L, Barsan V, Mancusi R, Geraghty AC, Good Z, Mochizuki AY, Gillespie SM, Toland AMS, Mahdi J, Reschke A, Nie EH, Chau IJ, Rotiroti MC, Mount CW, Baggott C, Mavroukakis S, Egeler E, Moon J, Erickson C, Green S, Kunicki M, Fujimoto M, Ehlinger Z, Reynolds W, Kurra S, Warren KE, Prabhu S, Vogel H, Rasmussen L, Cornell TT, Partap S, Fisher PG, Campen CJ, Filbin MG, Grant G, Sahaf B, Davis KL, Feldman SA, Mackall CL, Monje M
Nature 2022 Mar;603(7903):934-941. Epub 2022 Feb 7 doi: 10.1038/s41586-022-04489-4. PMID: 35130560Free PMC Article
Mohile NA, Messersmith H, Gatson NT, Hottinger AF, Lassman A, Morton J, Ney D, Nghiemphu PL, Olar A, Olson J, Perry J, Portnow J, Schiff D, Shannon A, Shih HA, Strowd R, van den Bent M, Ziu M, Blakeley J
J Clin Oncol 2022 Feb 1;40(4):403-426. Epub 2021 Dec 13 doi: 10.1200/JCO.21.02036. PMID: 34898238
Perrone MG, Ruggiero A, Centonze A, Carrieri A, Ferorelli S, Scilimati A
Curr Med Chem 2021;28(17):3287-3317. doi: 10.2174/0929867327666200806110206. PMID: 32767913
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N Engl J Med 2016 Apr 7;374(14):1344-55. doi: 10.1056/NEJMoa1500925. PMID: 27050206Free PMC Article

Prognosis

Appay R, Dehais C, Maurage CA, Alentorn A, Carpentier C, Colin C, Ducray F, Escande F, Idbaih A, Kamoun A, Marie Y, Mokhtari K, Tabouret E, Trabelsi N, Uro-Coste E, Delattre JY, Figarella-Branger D; POLA Network
Neuro Oncol 2019 Dec 17;21(12):1519-1528. doi: 10.1093/neuonc/noz124. PMID: 31832685Free PMC Article
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Kaatsch P
Cancer Treat Rev 2010 Jun;36(4):277-85. Epub 2010 Mar 15 doi: 10.1016/j.ctrv.2010.02.003. PMID: 20231056
Bayindir C, Balak N, Karasu A, Kasaroğlu D
Childs Nerv Syst 1997 Jan;13(1):50-6. doi: 10.1007/s003810050040. PMID: 9083703

Clinical prediction guides

Mohile NA, Messersmith H, Gatson NT, Hottinger AF, Lassman A, Morton J, Ney D, Nghiemphu PL, Olar A, Olson J, Perry J, Portnow J, Schiff D, Shannon A, Shih HA, Strowd R, van den Bent M, Ziu M, Blakeley J
J Clin Oncol 2022 Feb 1;40(4):403-426. Epub 2021 Dec 13 doi: 10.1200/JCO.21.02036. PMID: 34898238
Nagoshi N, Tsuji O, Suzuki S, Nori S, Yagi M, Okada E, Okita H, Fujita N, Ishii K, Matsumoto M, Nakamura M, Watanabe K
Spinal Cord 2022 Mar;60(3):216-222. Epub 2021 Jul 26 doi: 10.1038/s41393-021-00676-8. PMID: 34312493
Pierscianek D, Ahmadipour Y, Michel A, Rauschenbach L, Darkwah Oppong M, Deuschl C, Kebir S, Wrede KH, Glas M, Stuschke M, Sure U, Jabbarli R
Clin Neurol Neurosurg 2021 Jan;200:106348. Epub 2020 Nov 1 doi: 10.1016/j.clineuro.2020.106348. PMID: 33158630
Parsons MW, Whipple NS, Poppe MM, Mendez JS, Cannon DM, Burt LM
J Neurooncol 2021 Jan;151(2):93-101. Epub 2020 Oct 31 doi: 10.1007/s11060-020-03653-y. PMID: 33131004
van den Bent MJ, Smits M, Kros JM, Chang SM
J Clin Oncol 2017 Jul 20;35(21):2394-2401. Epub 2017 Jun 22 doi: 10.1200/JCO.2017.72.6737. PMID: 28640702

Recent systematic reviews

Mier-García JF, Ospina-Santa S, Orozco-Mera J, Ma R, Plaha P
J Neurooncol 2023 Aug;164(1):31-41. Epub 2023 Aug 10 doi: 10.1007/s11060-023-04409-0. PMID: 37561356
Mohile NA, Messersmith H, Gatson NT, Hottinger AF, Lassman A, Morton J, Ney D, Nghiemphu PL, Olar A, Olson J, Perry J, Portnow J, Schiff D, Shannon A, Shih HA, Strowd R, van den Bent M, Ziu M, Blakeley J
J Clin Oncol 2022 Feb 1;40(4):403-426. Epub 2021 Dec 13 doi: 10.1200/JCO.21.02036. PMID: 34898238
Jankovic D, Hanissian A, Rotim K, Splavski B, Arnautovic KI
World Neurosurg 2022 Feb;158:1-10. Epub 2021 Oct 21 doi: 10.1016/j.wneu.2021.10.105. PMID: 34687932
Freixo C, Hermouet S, Neves AM
Crit Rev Oncog 2019;24(4):339-347. doi: 10.1615/CritRevOncog.2020032954. PMID: 32421989
Bond KM, Hughes JD, Porter AL, Orina J, Fang S, Parney IF
World Neurosurg 2018 Feb;110:276-283. Epub 2017 Nov 24 doi: 10.1016/j.wneu.2017.11.102. PMID: 29180079

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    Curated

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      NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Central Nervous System Cancers, 2023

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