Table 1.
Open in new tab

Overview of All Cases

CaseSexAge, yPresenting symptomsMRIImmunohistochemistryExtended molecular diagnosticsTherapeutic managementOutcomeFollow-up, mo
1F51Acute headache, gait disturbance, altered mental statusObstructive hydrocephalus. Well-marginated small lesion at entrance of the Sylvian aqueduct, only faint contrast enhancementMIB-1 proliferation index < 1% NCAM, SPDEF, mTOR, pAKTa Synaptophysin, S-100, pan-CKbSomatic tumor mutation testing: low mutational burden, strong genomic instability, no therapeutic targetcETV, biopsy, endoscopic stereotactic resectionKPS 100%, no recurrence24
2M50Chronic dizziness, fatigueChronic obstructive hydrocephalus. Tectal contrast-enhancing lesion with multiple small cystsMIB-1 proliferation index 3% pan-CK, CK8, mTOR, pAKTa MAP2, S-100bDeletion of chromosome 10 and 22q. Duplications of chromosomes 4, 5, and 8. Diagnosis confirmed by methylation array analysis: PTPR group 1ETV, biopsy. Refused further treatmentKPS 80%60
3F27Subacute headache, progressive diplopia, gait disturbanceAcute obstructive hydrocephalus. Large intraluminal mass with only partial contrast enhancementMIB-1 proliferation index 12% NCAM, mTOR, pAKT, pS6a S-100, AE1/AE3, CK18, Kir 7.1bSomatic tumor mutation testing: duplications of chromosomes 8 and 19, deletion of chromosomes 22q and 10. PTEN missense mutation (c.116C>T; p.Ala39Val)cETV, biopsy, open resection, adjuvant RTKPS 80%, no recurrence24
4M59Progressive diplopia, gait disturbance, hemihypesthesia, trochlear nerve palsy, Parinaud syndromeChronic obstructive hydrocephalus. Contrast- enhancing pineal mass with cystic parts and infiltration in brain parenchyma with surrounding edemaMIB-1 proliferation index 5% to 12% SPDEF, mTOR, pAKT, pS6a pan-CK, GFAPbDeletion of chromosome 10. Diagnosis confirmed by methylation array analysis: PTPRETV, biopsy, open resection, VPS, adjuvant RT, temozolomide, bevacizumabKPS 70%, recurrence at 17 mo80
CaseSexAge, yPresenting symptomsMRIImmunohistochemistryExtended molecular diagnosticsTherapeutic managementOutcomeFollow-up, mo
1F51Acute headache, gait disturbance, altered mental statusObstructive hydrocephalus. Well-marginated small lesion at entrance of the Sylvian aqueduct, only faint contrast enhancementMIB-1 proliferation index < 1% NCAM, SPDEF, mTOR, pAKTa Synaptophysin, S-100, pan-CKbSomatic tumor mutation testing: low mutational burden, strong genomic instability, no therapeutic targetcETV, biopsy, endoscopic stereotactic resectionKPS 100%, no recurrence24
2M50Chronic dizziness, fatigueChronic obstructive hydrocephalus. Tectal contrast-enhancing lesion with multiple small cystsMIB-1 proliferation index 3% pan-CK, CK8, mTOR, pAKTa MAP2, S-100bDeletion of chromosome 10 and 22q. Duplications of chromosomes 4, 5, and 8. Diagnosis confirmed by methylation array analysis: PTPR group 1ETV, biopsy. Refused further treatmentKPS 80%60
3F27Subacute headache, progressive diplopia, gait disturbanceAcute obstructive hydrocephalus. Large intraluminal mass with only partial contrast enhancementMIB-1 proliferation index 12% NCAM, mTOR, pAKT, pS6a S-100, AE1/AE3, CK18, Kir 7.1bSomatic tumor mutation testing: duplications of chromosomes 8 and 19, deletion of chromosomes 22q and 10. PTEN missense mutation (c.116C>T; p.Ala39Val)cETV, biopsy, open resection, adjuvant RTKPS 80%, no recurrence24
4M59Progressive diplopia, gait disturbance, hemihypesthesia, trochlear nerve palsy, Parinaud syndromeChronic obstructive hydrocephalus. Contrast- enhancing pineal mass with cystic parts and infiltration in brain parenchyma with surrounding edemaMIB-1 proliferation index 5% to 12% SPDEF, mTOR, pAKT, pS6a pan-CK, GFAPbDeletion of chromosome 10. Diagnosis confirmed by methylation array analysis: PTPRETV, biopsy, open resection, VPS, adjuvant RT, temozolomide, bevacizumabKPS 70%, recurrence at 17 mo80

Abbreviations: ETV, endoscopic third ventriculostomy; F, female; GFAP, glial fibrillary acid protein; M, male; MAP2, microtubule-associated protein 2; mTOR, mammalian target of rapamycin; NCAM, neural cell adhesion molecule; pAKT, phosphorylated AKT; pan-CK, pan-cytokeratin antibody; pS6, phosphor-S6; PTPR, papillary tumor of the pineal region; RT, radiotherapy; SPDEF, SAM pointed domain-containing Ets transcription factor; VPS, ventriculoperitoneal shunt.

aStrong immunoreactivity.

bLow or focal immunoreactivity.

cAn overview of the molecular profiles is available as Supplementary Table 2.

Table 1.
Open in new tab

Overview of All Cases

CaseSexAge, yPresenting symptomsMRIImmunohistochemistryExtended molecular diagnosticsTherapeutic managementOutcomeFollow-up, mo
1F51Acute headache, gait disturbance, altered mental statusObstructive hydrocephalus. Well-marginated small lesion at entrance of the Sylvian aqueduct, only faint contrast enhancementMIB-1 proliferation index < 1% NCAM, SPDEF, mTOR, pAKTa Synaptophysin, S-100, pan-CKbSomatic tumor mutation testing: low mutational burden, strong genomic instability, no therapeutic targetcETV, biopsy, endoscopic stereotactic resectionKPS 100%, no recurrence24
2M50Chronic dizziness, fatigueChronic obstructive hydrocephalus. Tectal contrast-enhancing lesion with multiple small cystsMIB-1 proliferation index 3% pan-CK, CK8, mTOR, pAKTa MAP2, S-100bDeletion of chromosome 10 and 22q. Duplications of chromosomes 4, 5, and 8. Diagnosis confirmed by methylation array analysis: PTPR group 1ETV, biopsy. Refused further treatmentKPS 80%60
3F27Subacute headache, progressive diplopia, gait disturbanceAcute obstructive hydrocephalus. Large intraluminal mass with only partial contrast enhancementMIB-1 proliferation index 12% NCAM, mTOR, pAKT, pS6a S-100, AE1/AE3, CK18, Kir 7.1bSomatic tumor mutation testing: duplications of chromosomes 8 and 19, deletion of chromosomes 22q and 10. PTEN missense mutation (c.116C>T; p.Ala39Val)cETV, biopsy, open resection, adjuvant RTKPS 80%, no recurrence24
4M59Progressive diplopia, gait disturbance, hemihypesthesia, trochlear nerve palsy, Parinaud syndromeChronic obstructive hydrocephalus. Contrast- enhancing pineal mass with cystic parts and infiltration in brain parenchyma with surrounding edemaMIB-1 proliferation index 5% to 12% SPDEF, mTOR, pAKT, pS6a pan-CK, GFAPbDeletion of chromosome 10. Diagnosis confirmed by methylation array analysis: PTPRETV, biopsy, open resection, VPS, adjuvant RT, temozolomide, bevacizumabKPS 70%, recurrence at 17 mo80
CaseSexAge, yPresenting symptomsMRIImmunohistochemistryExtended molecular diagnosticsTherapeutic managementOutcomeFollow-up, mo
1F51Acute headache, gait disturbance, altered mental statusObstructive hydrocephalus. Well-marginated small lesion at entrance of the Sylvian aqueduct, only faint contrast enhancementMIB-1 proliferation index < 1% NCAM, SPDEF, mTOR, pAKTa Synaptophysin, S-100, pan-CKbSomatic tumor mutation testing: low mutational burden, strong genomic instability, no therapeutic targetcETV, biopsy, endoscopic stereotactic resectionKPS 100%, no recurrence24
2M50Chronic dizziness, fatigueChronic obstructive hydrocephalus. Tectal contrast-enhancing lesion with multiple small cystsMIB-1 proliferation index 3% pan-CK, CK8, mTOR, pAKTa MAP2, S-100bDeletion of chromosome 10 and 22q. Duplications of chromosomes 4, 5, and 8. Diagnosis confirmed by methylation array analysis: PTPR group 1ETV, biopsy. Refused further treatmentKPS 80%60
3F27Subacute headache, progressive diplopia, gait disturbanceAcute obstructive hydrocephalus. Large intraluminal mass with only partial contrast enhancementMIB-1 proliferation index 12% NCAM, mTOR, pAKT, pS6a S-100, AE1/AE3, CK18, Kir 7.1bSomatic tumor mutation testing: duplications of chromosomes 8 and 19, deletion of chromosomes 22q and 10. PTEN missense mutation (c.116C>T; p.Ala39Val)cETV, biopsy, open resection, adjuvant RTKPS 80%, no recurrence24
4M59Progressive diplopia, gait disturbance, hemihypesthesia, trochlear nerve palsy, Parinaud syndromeChronic obstructive hydrocephalus. Contrast- enhancing pineal mass with cystic parts and infiltration in brain parenchyma with surrounding edemaMIB-1 proliferation index 5% to 12% SPDEF, mTOR, pAKT, pS6a pan-CK, GFAPbDeletion of chromosome 10. Diagnosis confirmed by methylation array analysis: PTPRETV, biopsy, open resection, VPS, adjuvant RT, temozolomide, bevacizumabKPS 70%, recurrence at 17 mo80

Abbreviations: ETV, endoscopic third ventriculostomy; F, female; GFAP, glial fibrillary acid protein; M, male; MAP2, microtubule-associated protein 2; mTOR, mammalian target of rapamycin; NCAM, neural cell adhesion molecule; pAKT, phosphorylated AKT; pan-CK, pan-cytokeratin antibody; pS6, phosphor-S6; PTPR, papillary tumor of the pineal region; RT, radiotherapy; SPDEF, SAM pointed domain-containing Ets transcription factor; VPS, ventriculoperitoneal shunt.

aStrong immunoreactivity.

bLow or focal immunoreactivity.

cAn overview of the molecular profiles is available as Supplementary Table 2.

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