Familial Pediatric Clear Cell Meningioma With Germline <i>SMARCE1</i> Mutation in the United States

Navalkele, Pournima; Guzmán, Miguel A.; Kirby, Amelia; Pinz, Hailey; Kemp, Joanna

doi:10.1093/jnen/nlaa115

Cited by 6 publications

(5 citation statements)

References 9 publications

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“…SMARCE1 contains a centrally positioned coiled-coil domain and an N-terminal high-mobility group (HMG) DNA-binding domain. Importantly, recent exome-wide sequencing studies have revealed that mutations in SMARCE1 cause CCM tumors of both spinal and cranial origin [20][21][22][23][24][25][26][27][28] . SMARCE1-mutant CCM disproportionately affects younger individuals (median age = 11 years) (Supplementary Table 1 and Extended Data Fig.…”

mentioning

confidence: 99%

SMARCE1 deficiency generates a targetable mSWI/SNF dependency in clear cell meningioma

et al. 2022

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mentioning

confidence: 99%

SMARCE1 deficiency generates a targetable mSWI/SNF dependency in clear cell meningioma

et al. 2022

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“…Common locations for CC meningiomas are the lumbosacral region, intracranial or at the CPA. 7,11,[17][18][19][20]22,23 To the best of our knowledge, only one of the cases found indicated the tumor to be located cervical, 11 the other spinal cases were not found in the cervical region or did not specify the spinal location. 11,[17][18][19][20]22,23 Therefore, cervical CC meningiomas are considered to be more rare than lumbar CC meningiomas.…”

Section: Observationsmentioning

confidence: 82%

“…7,11,[17][18][19][20]22,23 To the best of our knowledge, only one of the cases found indicated the tumor to be located cervical, 11 the other spinal cases were not found in the cervical region or did not specify the spinal location. 11,[17][18][19][20]22,23 Therefore, cervical CC meningiomas are considered to be more rare than lumbar CC meningiomas. Therefore, it is exceptional to find that in this case, both the mother and daughter had a CC meningioma, not only at the same cervical level, but both ventral to the spinal cord.…”

Section: Observationsmentioning

confidence: 82%

“…11 SMARCE1 mutations always result in clear cell morphology, and familial CC meningioma is associated with germline SMARCE1 mutations. 7,11,[17][18][19][20]22,23 As SMARCE1-associated CC meningiomas almost always occur in younger patients, it is uncommon to consider a meningioma in an elderly patient to be a CC meningioma associated with a SMARCE1 mutation. This might be the reason why less SMARCE1 screening is performed in elderly.…”

Section: Observationsmentioning

confidence: 99%

“…In the available literature/case reports, CC meningiomas are often found in the lumbar spine, CPA, and cranially. [17][18][19][20] Therefore, it is of interest to investigate the current case in which both mother and daughter presented with a cervical spinal CC meningioma at the same location.…”

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confidence: 99%

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Mother and daughter with a SMARCE1 mutation resulting in a cervical clear cell meningioma at an identical location: illustrative cases

Schuermans

Goor

Broen

et al. 2023

Journal of Neurosurgery: Case Lessons

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BACKGROUND A rare meningioma subtype is a clear cell (CC) meningioma, which can be associated with a SMARCE1 gene mutation. Manifestation of a CC meningioma in the cervical spine is unusual. In the current case, both mother and daughter present with a CC meningioma at an identical cervical location. OBSERVATIONS A 67-year-old patient with an intradural extramedullary mass at the level of C5 presented with progressive myelopathy. The mass was resected through a ventral approach by a two-level corpectomy with an expandable cage and instrumentation. The daughter of this patient appeared to have had an intradural extramedullary mass at C5 at the age of 20, which was resected through a posterior approach. Pathological investigation of both tumors revealed CC meningioma. Genetic testing of the daughter revealed a SMARCE1 mutation. LESSONS It is of major importance to consider a SMARCE1 mutation in elderly presenting with a CC meningioma, which is still uncommon in current practice. This could lead to timely diagnostics in the succeeding generation. Complete resection of a CC meningioma is important because of the high recurrence rate. Routine follow-up should therefore be performed in the postoperative period. An anterior approach should be considered for a ventral cervical CC meningioma.

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SMARCE1-related meningiomas: A clear example of cancer predisposing syndrome

Fiorentini¹,

Giunti²,

Rita³

et al. 2023

European Journal of Medical Genetics

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Familial Pediatric Clear Cell Meningioma With Germline SMARCE1 Mutation in the United States

Cited by 6 publications

References 9 publications

SMARCE1 deficiency generates a targetable mSWI/SNF dependency in clear cell meningioma

SMARCE1 deficiency generates a targetable mSWI/SNF dependency in clear cell meningioma

Mother and daughter with a SMARCE1 mutation resulting in a cervical clear cell meningioma at an identical location: illustrative cases

SMARCE1-related meningiomas: A clear example of cancer predisposing syndrome

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