Pediatric clear cell meningioma involving the middle cranial fossa in the context of NF2 and SMARCE1 mutations
Meningiomas are an uncommon entity in children and adolescents. <30 cases of pediatric clear cell meningioma (CCM), a World Health Organization (WHO) Grade II tumor, have been reported in the literature. These tumors are more likely to recur than the more common WHO Grade I meningiomas, especiall...
Ausführliche Beschreibung
Autor*in: |
Libert, Diane M. [verfasserIn] |
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E-Artikel |
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Sprache: |
Englisch |
Erschienen: |
2020transfer abstract |
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Übergeordnetes Werk: |
Enthalten in: Su1557 Development of an E-Learning System for the Endoscopic Diagnosis of Early Gastric Cancer: an International Multicenter Randomized Controlled Trial - Yao, Kenshi ELSEVIER, 2015, Amsterdam [u.a.] |
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Übergeordnetes Werk: |
volume:46 ; year:2020 ; pages:0 |
Links: |
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DOI / URN: |
10.1016/j.anndiagpath.2020.151516 |
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520 | |a Meningiomas are an uncommon entity in children and adolescents. <30 cases of pediatric clear cell meningioma (CCM), a World Health Organization (WHO) Grade II tumor, have been reported in the literature. These tumors are more likely to recur than the more common WHO Grade I meningiomas, especially with incomplete surgical resection. CCMs are most commonly found in the spine and posterior cranial fossa. Recently, SMARCE1 mutations have been linked to the development of CCM. To evaluate the progression of pediatric CCM in the context of emerging genetic knowledge, we reviewed all 45 cases of CCM at our institution for a 23 year period (1997–2019) to identify pediatric cases. Forty-four of the tumors arose in adults from age 34–81 years. The one pediatric case originally presented at age 4 years; the patient was found to have a CCM in the left cavernous sinus projecting into the posterior fossa, associated with a novel germline SMARCE1 mutation and somatic NF1 and DMD mutations. After two years, the patient had a recurrence of the tumor and underwent a second resection. This is the 5th reported case of CCM in the middle cranial fossa, and the only recurrent case, as well as the only reported case of recurrent pediatric CCM associated with a germline SMARCE1 mutation. Further study of the natural history of tumors associated with germline SMARCE1 loss could potentially inform prognosis. | ||
520 | |a Meningiomas are an uncommon entity in children and adolescents. <30 cases of pediatric clear cell meningioma (CCM), a World Health Organization (WHO) Grade II tumor, have been reported in the literature. These tumors are more likely to recur than the more common WHO Grade I meningiomas, especially with incomplete surgical resection. CCMs are most commonly found in the spine and posterior cranial fossa. Recently, SMARCE1 mutations have been linked to the development of CCM. To evaluate the progression of pediatric CCM in the context of emerging genetic knowledge, we reviewed all 45 cases of CCM at our institution for a 23 year period (1997–2019) to identify pediatric cases. Forty-four of the tumors arose in adults from age 34–81 years. The one pediatric case originally presented at age 4 years; the patient was found to have a CCM in the left cavernous sinus projecting into the posterior fossa, associated with a novel germline SMARCE1 mutation and somatic NF1 and DMD mutations. After two years, the patient had a recurrence of the tumor and underwent a second resection. This is the 5th reported case of CCM in the middle cranial fossa, and the only recurrent case, as well as the only reported case of recurrent pediatric CCM associated with a germline SMARCE1 mutation. Further study of the natural history of tumors associated with germline SMARCE1 loss could potentially inform prognosis. | ||
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10.1016/j.anndiagpath.2020.151516 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001097.pica (DE-627)ELV051012413 (ELSEVIER)S1092-9134(20)30057-5 DE-627 ger DE-627 rakwb eng 610 VZ 600 670 VZ 51.00 bkl Libert, Diane M. verfasserin aut Pediatric clear cell meningioma involving the middle cranial fossa in the context of NF2 and SMARCE1 mutations 2020transfer abstract nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Meningiomas are an uncommon entity in children and adolescents. <30 cases of pediatric clear cell meningioma (CCM), a World Health Organization (WHO) Grade II tumor, have been reported in the literature. These tumors are more likely to recur than the more common WHO Grade I meningiomas, especially with incomplete surgical resection. CCMs are most commonly found in the spine and posterior cranial fossa. Recently, SMARCE1 mutations have been linked to the development of CCM. To evaluate the progression of pediatric CCM in the context of emerging genetic knowledge, we reviewed all 45 cases of CCM at our institution for a 23 year period (1997–2019) to identify pediatric cases. Forty-four of the tumors arose in adults from age 34–81 years. The one pediatric case originally presented at age 4 years; the patient was found to have a CCM in the left cavernous sinus projecting into the posterior fossa, associated with a novel germline SMARCE1 mutation and somatic NF1 and DMD mutations. After two years, the patient had a recurrence of the tumor and underwent a second resection. This is the 5th reported case of CCM in the middle cranial fossa, and the only recurrent case, as well as the only reported case of recurrent pediatric CCM associated with a germline SMARCE1 mutation. Further study of the natural history of tumors associated with germline SMARCE1 loss could potentially inform prognosis. Meningiomas are an uncommon entity in children and adolescents. <30 cases of pediatric clear cell meningioma (CCM), a World Health Organization (WHO) Grade II tumor, have been reported in the literature. These tumors are more likely to recur than the more common WHO Grade I meningiomas, especially with incomplete surgical resection. CCMs are most commonly found in the spine and posterior cranial fossa. Recently, SMARCE1 mutations have been linked to the development of CCM. To evaluate the progression of pediatric CCM in the context of emerging genetic knowledge, we reviewed all 45 cases of CCM at our institution for a 23 year period (1997–2019) to identify pediatric cases. Forty-four of the tumors arose in adults from age 34–81 years. The one pediatric case originally presented at age 4 years; the patient was found to have a CCM in the left cavernous sinus projecting into the posterior fossa, associated with a novel germline SMARCE1 mutation and somatic NF1 and DMD mutations. After two years, the patient had a recurrence of the tumor and underwent a second resection. This is the 5th reported case of CCM in the middle cranial fossa, and the only recurrent case, as well as the only reported case of recurrent pediatric CCM associated with a germline SMARCE1 mutation. Further study of the natural history of tumors associated with germline SMARCE1 loss could potentially inform prognosis. Prayson, Richard A. oth Enthalten in Elsevier Yao, Kenshi ELSEVIER Su1557 Development of an E-Learning System for the Endoscopic Diagnosis of Early Gastric Cancer: an International Multicenter Randomized Controlled Trial 2015 Amsterdam [u.a.] (DE-627)ELV013464221 volume:46 year:2020 pages:0 https://doi.org/10.1016/j.anndiagpath.2020.151516 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U GBV_ILN_40 GBV_ILN_72 GBV_ILN_2003 51.00 Werkstoffkunde: Allgemeines VZ AR 46 2020 0 |
spelling |
10.1016/j.anndiagpath.2020.151516 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001097.pica (DE-627)ELV051012413 (ELSEVIER)S1092-9134(20)30057-5 DE-627 ger DE-627 rakwb eng 610 VZ 600 670 VZ 51.00 bkl Libert, Diane M. verfasserin aut Pediatric clear cell meningioma involving the middle cranial fossa in the context of NF2 and SMARCE1 mutations 2020transfer abstract nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Meningiomas are an uncommon entity in children and adolescents. <30 cases of pediatric clear cell meningioma (CCM), a World Health Organization (WHO) Grade II tumor, have been reported in the literature. These tumors are more likely to recur than the more common WHO Grade I meningiomas, especially with incomplete surgical resection. CCMs are most commonly found in the spine and posterior cranial fossa. Recently, SMARCE1 mutations have been linked to the development of CCM. To evaluate the progression of pediatric CCM in the context of emerging genetic knowledge, we reviewed all 45 cases of CCM at our institution for a 23 year period (1997–2019) to identify pediatric cases. Forty-four of the tumors arose in adults from age 34–81 years. The one pediatric case originally presented at age 4 years; the patient was found to have a CCM in the left cavernous sinus projecting into the posterior fossa, associated with a novel germline SMARCE1 mutation and somatic NF1 and DMD mutations. After two years, the patient had a recurrence of the tumor and underwent a second resection. This is the 5th reported case of CCM in the middle cranial fossa, and the only recurrent case, as well as the only reported case of recurrent pediatric CCM associated with a germline SMARCE1 mutation. Further study of the natural history of tumors associated with germline SMARCE1 loss could potentially inform prognosis. Meningiomas are an uncommon entity in children and adolescents. <30 cases of pediatric clear cell meningioma (CCM), a World Health Organization (WHO) Grade II tumor, have been reported in the literature. These tumors are more likely to recur than the more common WHO Grade I meningiomas, especially with incomplete surgical resection. CCMs are most commonly found in the spine and posterior cranial fossa. Recently, SMARCE1 mutations have been linked to the development of CCM. To evaluate the progression of pediatric CCM in the context of emerging genetic knowledge, we reviewed all 45 cases of CCM at our institution for a 23 year period (1997–2019) to identify pediatric cases. Forty-four of the tumors arose in adults from age 34–81 years. The one pediatric case originally presented at age 4 years; the patient was found to have a CCM in the left cavernous sinus projecting into the posterior fossa, associated with a novel germline SMARCE1 mutation and somatic NF1 and DMD mutations. After two years, the patient had a recurrence of the tumor and underwent a second resection. This is the 5th reported case of CCM in the middle cranial fossa, and the only recurrent case, as well as the only reported case of recurrent pediatric CCM associated with a germline SMARCE1 mutation. Further study of the natural history of tumors associated with germline SMARCE1 loss could potentially inform prognosis. Prayson, Richard A. oth Enthalten in Elsevier Yao, Kenshi ELSEVIER Su1557 Development of an E-Learning System for the Endoscopic Diagnosis of Early Gastric Cancer: an International Multicenter Randomized Controlled Trial 2015 Amsterdam [u.a.] (DE-627)ELV013464221 volume:46 year:2020 pages:0 https://doi.org/10.1016/j.anndiagpath.2020.151516 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U GBV_ILN_40 GBV_ILN_72 GBV_ILN_2003 51.00 Werkstoffkunde: Allgemeines VZ AR 46 2020 0 |
allfields_unstemmed |
10.1016/j.anndiagpath.2020.151516 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001097.pica (DE-627)ELV051012413 (ELSEVIER)S1092-9134(20)30057-5 DE-627 ger DE-627 rakwb eng 610 VZ 600 670 VZ 51.00 bkl Libert, Diane M. verfasserin aut Pediatric clear cell meningioma involving the middle cranial fossa in the context of NF2 and SMARCE1 mutations 2020transfer abstract nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Meningiomas are an uncommon entity in children and adolescents. <30 cases of pediatric clear cell meningioma (CCM), a World Health Organization (WHO) Grade II tumor, have been reported in the literature. These tumors are more likely to recur than the more common WHO Grade I meningiomas, especially with incomplete surgical resection. CCMs are most commonly found in the spine and posterior cranial fossa. Recently, SMARCE1 mutations have been linked to the development of CCM. To evaluate the progression of pediatric CCM in the context of emerging genetic knowledge, we reviewed all 45 cases of CCM at our institution for a 23 year period (1997–2019) to identify pediatric cases. Forty-four of the tumors arose in adults from age 34–81 years. The one pediatric case originally presented at age 4 years; the patient was found to have a CCM in the left cavernous sinus projecting into the posterior fossa, associated with a novel germline SMARCE1 mutation and somatic NF1 and DMD mutations. After two years, the patient had a recurrence of the tumor and underwent a second resection. This is the 5th reported case of CCM in the middle cranial fossa, and the only recurrent case, as well as the only reported case of recurrent pediatric CCM associated with a germline SMARCE1 mutation. Further study of the natural history of tumors associated with germline SMARCE1 loss could potentially inform prognosis. Meningiomas are an uncommon entity in children and adolescents. <30 cases of pediatric clear cell meningioma (CCM), a World Health Organization (WHO) Grade II tumor, have been reported in the literature. These tumors are more likely to recur than the more common WHO Grade I meningiomas, especially with incomplete surgical resection. CCMs are most commonly found in the spine and posterior cranial fossa. Recently, SMARCE1 mutations have been linked to the development of CCM. To evaluate the progression of pediatric CCM in the context of emerging genetic knowledge, we reviewed all 45 cases of CCM at our institution for a 23 year period (1997–2019) to identify pediatric cases. Forty-four of the tumors arose in adults from age 34–81 years. The one pediatric case originally presented at age 4 years; the patient was found to have a CCM in the left cavernous sinus projecting into the posterior fossa, associated with a novel germline SMARCE1 mutation and somatic NF1 and DMD mutations. After two years, the patient had a recurrence of the tumor and underwent a second resection. This is the 5th reported case of CCM in the middle cranial fossa, and the only recurrent case, as well as the only reported case of recurrent pediatric CCM associated with a germline SMARCE1 mutation. Further study of the natural history of tumors associated with germline SMARCE1 loss could potentially inform prognosis. Prayson, Richard A. oth Enthalten in Elsevier Yao, Kenshi ELSEVIER Su1557 Development of an E-Learning System for the Endoscopic Diagnosis of Early Gastric Cancer: an International Multicenter Randomized Controlled Trial 2015 Amsterdam [u.a.] (DE-627)ELV013464221 volume:46 year:2020 pages:0 https://doi.org/10.1016/j.anndiagpath.2020.151516 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U GBV_ILN_40 GBV_ILN_72 GBV_ILN_2003 51.00 Werkstoffkunde: Allgemeines VZ AR 46 2020 0 |
allfieldsGer |
10.1016/j.anndiagpath.2020.151516 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001097.pica (DE-627)ELV051012413 (ELSEVIER)S1092-9134(20)30057-5 DE-627 ger DE-627 rakwb eng 610 VZ 600 670 VZ 51.00 bkl Libert, Diane M. verfasserin aut Pediatric clear cell meningioma involving the middle cranial fossa in the context of NF2 and SMARCE1 mutations 2020transfer abstract nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Meningiomas are an uncommon entity in children and adolescents. <30 cases of pediatric clear cell meningioma (CCM), a World Health Organization (WHO) Grade II tumor, have been reported in the literature. These tumors are more likely to recur than the more common WHO Grade I meningiomas, especially with incomplete surgical resection. CCMs are most commonly found in the spine and posterior cranial fossa. Recently, SMARCE1 mutations have been linked to the development of CCM. To evaluate the progression of pediatric CCM in the context of emerging genetic knowledge, we reviewed all 45 cases of CCM at our institution for a 23 year period (1997–2019) to identify pediatric cases. Forty-four of the tumors arose in adults from age 34–81 years. The one pediatric case originally presented at age 4 years; the patient was found to have a CCM in the left cavernous sinus projecting into the posterior fossa, associated with a novel germline SMARCE1 mutation and somatic NF1 and DMD mutations. After two years, the patient had a recurrence of the tumor and underwent a second resection. This is the 5th reported case of CCM in the middle cranial fossa, and the only recurrent case, as well as the only reported case of recurrent pediatric CCM associated with a germline SMARCE1 mutation. Further study of the natural history of tumors associated with germline SMARCE1 loss could potentially inform prognosis. Meningiomas are an uncommon entity in children and adolescents. <30 cases of pediatric clear cell meningioma (CCM), a World Health Organization (WHO) Grade II tumor, have been reported in the literature. These tumors are more likely to recur than the more common WHO Grade I meningiomas, especially with incomplete surgical resection. CCMs are most commonly found in the spine and posterior cranial fossa. Recently, SMARCE1 mutations have been linked to the development of CCM. To evaluate the progression of pediatric CCM in the context of emerging genetic knowledge, we reviewed all 45 cases of CCM at our institution for a 23 year period (1997–2019) to identify pediatric cases. Forty-four of the tumors arose in adults from age 34–81 years. The one pediatric case originally presented at age 4 years; the patient was found to have a CCM in the left cavernous sinus projecting into the posterior fossa, associated with a novel germline SMARCE1 mutation and somatic NF1 and DMD mutations. After two years, the patient had a recurrence of the tumor and underwent a second resection. This is the 5th reported case of CCM in the middle cranial fossa, and the only recurrent case, as well as the only reported case of recurrent pediatric CCM associated with a germline SMARCE1 mutation. Further study of the natural history of tumors associated with germline SMARCE1 loss could potentially inform prognosis. Prayson, Richard A. oth Enthalten in Elsevier Yao, Kenshi ELSEVIER Su1557 Development of an E-Learning System for the Endoscopic Diagnosis of Early Gastric Cancer: an International Multicenter Randomized Controlled Trial 2015 Amsterdam [u.a.] (DE-627)ELV013464221 volume:46 year:2020 pages:0 https://doi.org/10.1016/j.anndiagpath.2020.151516 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U GBV_ILN_40 GBV_ILN_72 GBV_ILN_2003 51.00 Werkstoffkunde: Allgemeines VZ AR 46 2020 0 |
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10.1016/j.anndiagpath.2020.151516 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001097.pica (DE-627)ELV051012413 (ELSEVIER)S1092-9134(20)30057-5 DE-627 ger DE-627 rakwb eng 610 VZ 600 670 VZ 51.00 bkl Libert, Diane M. verfasserin aut Pediatric clear cell meningioma involving the middle cranial fossa in the context of NF2 and SMARCE1 mutations 2020transfer abstract nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Meningiomas are an uncommon entity in children and adolescents. <30 cases of pediatric clear cell meningioma (CCM), a World Health Organization (WHO) Grade II tumor, have been reported in the literature. These tumors are more likely to recur than the more common WHO Grade I meningiomas, especially with incomplete surgical resection. CCMs are most commonly found in the spine and posterior cranial fossa. Recently, SMARCE1 mutations have been linked to the development of CCM. To evaluate the progression of pediatric CCM in the context of emerging genetic knowledge, we reviewed all 45 cases of CCM at our institution for a 23 year period (1997–2019) to identify pediatric cases. Forty-four of the tumors arose in adults from age 34–81 years. The one pediatric case originally presented at age 4 years; the patient was found to have a CCM in the left cavernous sinus projecting into the posterior fossa, associated with a novel germline SMARCE1 mutation and somatic NF1 and DMD mutations. After two years, the patient had a recurrence of the tumor and underwent a second resection. This is the 5th reported case of CCM in the middle cranial fossa, and the only recurrent case, as well as the only reported case of recurrent pediatric CCM associated with a germline SMARCE1 mutation. Further study of the natural history of tumors associated with germline SMARCE1 loss could potentially inform prognosis. Meningiomas are an uncommon entity in children and adolescents. <30 cases of pediatric clear cell meningioma (CCM), a World Health Organization (WHO) Grade II tumor, have been reported in the literature. These tumors are more likely to recur than the more common WHO Grade I meningiomas, especially with incomplete surgical resection. CCMs are most commonly found in the spine and posterior cranial fossa. Recently, SMARCE1 mutations have been linked to the development of CCM. To evaluate the progression of pediatric CCM in the context of emerging genetic knowledge, we reviewed all 45 cases of CCM at our institution for a 23 year period (1997–2019) to identify pediatric cases. Forty-four of the tumors arose in adults from age 34–81 years. The one pediatric case originally presented at age 4 years; the patient was found to have a CCM in the left cavernous sinus projecting into the posterior fossa, associated with a novel germline SMARCE1 mutation and somatic NF1 and DMD mutations. After two years, the patient had a recurrence of the tumor and underwent a second resection. This is the 5th reported case of CCM in the middle cranial fossa, and the only recurrent case, as well as the only reported case of recurrent pediatric CCM associated with a germline SMARCE1 mutation. Further study of the natural history of tumors associated with germline SMARCE1 loss could potentially inform prognosis. Prayson, Richard A. oth Enthalten in Elsevier Yao, Kenshi ELSEVIER Su1557 Development of an E-Learning System for the Endoscopic Diagnosis of Early Gastric Cancer: an International Multicenter Randomized Controlled Trial 2015 Amsterdam [u.a.] (DE-627)ELV013464221 volume:46 year:2020 pages:0 https://doi.org/10.1016/j.anndiagpath.2020.151516 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U GBV_ILN_40 GBV_ILN_72 GBV_ILN_2003 51.00 Werkstoffkunde: Allgemeines VZ AR 46 2020 0 |
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pediatric clear cell meningioma involving the middle cranial fossa in the context of nf2 and smarce1 mutations |
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Pediatric clear cell meningioma involving the middle cranial fossa in the context of NF2 and SMARCE1 mutations |
abstract |
Meningiomas are an uncommon entity in children and adolescents. <30 cases of pediatric clear cell meningioma (CCM), a World Health Organization (WHO) Grade II tumor, have been reported in the literature. These tumors are more likely to recur than the more common WHO Grade I meningiomas, especially with incomplete surgical resection. CCMs are most commonly found in the spine and posterior cranial fossa. Recently, SMARCE1 mutations have been linked to the development of CCM. To evaluate the progression of pediatric CCM in the context of emerging genetic knowledge, we reviewed all 45 cases of CCM at our institution for a 23 year period (1997–2019) to identify pediatric cases. Forty-four of the tumors arose in adults from age 34–81 years. The one pediatric case originally presented at age 4 years; the patient was found to have a CCM in the left cavernous sinus projecting into the posterior fossa, associated with a novel germline SMARCE1 mutation and somatic NF1 and DMD mutations. After two years, the patient had a recurrence of the tumor and underwent a second resection. This is the 5th reported case of CCM in the middle cranial fossa, and the only recurrent case, as well as the only reported case of recurrent pediatric CCM associated with a germline SMARCE1 mutation. Further study of the natural history of tumors associated with germline SMARCE1 loss could potentially inform prognosis. |
abstractGer |
Meningiomas are an uncommon entity in children and adolescents. <30 cases of pediatric clear cell meningioma (CCM), a World Health Organization (WHO) Grade II tumor, have been reported in the literature. These tumors are more likely to recur than the more common WHO Grade I meningiomas, especially with incomplete surgical resection. CCMs are most commonly found in the spine and posterior cranial fossa. Recently, SMARCE1 mutations have been linked to the development of CCM. To evaluate the progression of pediatric CCM in the context of emerging genetic knowledge, we reviewed all 45 cases of CCM at our institution for a 23 year period (1997–2019) to identify pediatric cases. Forty-four of the tumors arose in adults from age 34–81 years. The one pediatric case originally presented at age 4 years; the patient was found to have a CCM in the left cavernous sinus projecting into the posterior fossa, associated with a novel germline SMARCE1 mutation and somatic NF1 and DMD mutations. After two years, the patient had a recurrence of the tumor and underwent a second resection. This is the 5th reported case of CCM in the middle cranial fossa, and the only recurrent case, as well as the only reported case of recurrent pediatric CCM associated with a germline SMARCE1 mutation. Further study of the natural history of tumors associated with germline SMARCE1 loss could potentially inform prognosis. |
abstract_unstemmed |
Meningiomas are an uncommon entity in children and adolescents. <30 cases of pediatric clear cell meningioma (CCM), a World Health Organization (WHO) Grade II tumor, have been reported in the literature. These tumors are more likely to recur than the more common WHO Grade I meningiomas, especially with incomplete surgical resection. CCMs are most commonly found in the spine and posterior cranial fossa. Recently, SMARCE1 mutations have been linked to the development of CCM. To evaluate the progression of pediatric CCM in the context of emerging genetic knowledge, we reviewed all 45 cases of CCM at our institution for a 23 year period (1997–2019) to identify pediatric cases. Forty-four of the tumors arose in adults from age 34–81 years. The one pediatric case originally presented at age 4 years; the patient was found to have a CCM in the left cavernous sinus projecting into the posterior fossa, associated with a novel germline SMARCE1 mutation and somatic NF1 and DMD mutations. After two years, the patient had a recurrence of the tumor and underwent a second resection. This is the 5th reported case of CCM in the middle cranial fossa, and the only recurrent case, as well as the only reported case of recurrent pediatric CCM associated with a germline SMARCE1 mutation. Further study of the natural history of tumors associated with germline SMARCE1 loss could potentially inform prognosis. |
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Pediatric clear cell meningioma involving the middle cranial fossa in the context of NF2 and SMARCE1 mutations |
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