Pediatric Type Diffuse Tumors Flashcards
A young child presents with seizure that is refractory to medication. Histopathology showed monomorphic cells with bland round, ovoid, or spindle nuclei. Which of the following is an essential diagnostic criterion for diffuse astrocytoma, MYB
or MYBL1-altered tumors?
● A. Diffuse astrocytoma without histological features of anaplasia and no mutation in IDH or H3 genes and structural variant of MYB or MYBL1
● B. A or diffuse astrocytoma without anaplasia and no mutations in IDH or H3 genes and DNA methylation profile aligned with diffuse astrocytoma, MYB or MYBL1 altered
● C. B + absence of LIG2
● D. B + absence of MAP2 expression
● E. All of the above
B. A or diffuse astrocytoma without anaplasia and no mutations in IDH or H3 genes and DNA methylation profile aligned with diffuse astrocytoma, MYB or MYBL1 altered
A young patient presents with intractable partial epilepsy. On imaging there is nonenhancing cortical based lesion in temporal lobe with total cure with gross total excision. On histopathology, it shows glioma with diffuse growth architecture and
a focal angiocentric pattern and monomorphic spindled cells with immunophenotypic and/or ultrastructural evidence of astrocytic and ependymal differentiation. What is the most likely diagnosis in this scenario?
● A. Polymorphous low-grade neuroepithelial tumor of the young
● B. Angiocentric glioma
● C. Diffuse glioma MYB- or MYBL1-altered
● D. Diffuse low grade glioma MAPK-pathway altered
● E. None of the above
B. Angiocentric glioma
A young patient presents with seizure with tumor present in right-sided temporal lobe on imaging. He is diagnosed with polymorphous low-grade neuroepithelial tumor of the young. Following are included in essential diagnostic criteria of this patient except?
● A. Diffuse growth pattern (at least regionally) and oligodendroglioma-like components (although these may be minor)
● B. A and few (if any) mitotic figure and regional CD34 expres-
sion by tumor cells and by ramified neural cells in associated cerebral cortex and IDH wildtype
● C. B and unequivocal expression of BRAF p.V600E on immunohistochemical assessment
● D. C and conspicuous calcifications with absence of 1p/19q codeletion
● E. B and molecular diagnostic evidence of BRAF p.V600E mutations, FGFR2 or FGFR3 fusions, or potentially other MAPK pathway–driving genetic abnormalities
D. C and conspicuous calcifications with absence of 1p/19q codeletion
Appearance of diffuse low-grade glioma, MAPK pathway altered, may resemble pilocytic astrocytoma complete with cystic elements but these tumors tend to be more extensive on T2 flair images. Which of the following is an essential diagnostic criterion for these tumors?
● A. Diffuse glioma with absence or minimal mitotic activity and neither microvascular proliferation nor necrosis
● B. Genetic alteration in the MAPK pathway
● C. IDH wildtype and H3 wildtype
● D. Absence of homozygous deletion of CDKN2A
● E. All of the above
E. All of the above
Following are correct regarding diffuse midline glioma H3 K27 M altered in children except?
● A. Involvement tends to be in brainstem, pons, or bithalamic
● B. The patient presents with the triad of multiple cranial nerve palsies, long tract signs, and ataxia or obstructive hydrocephalus
● C. Biopsy lacks clinical utility in these patients
● D. Given the high rate of leptomeningeal spread, imaging of the entire neuraxis is recommended
● E. Pontine lesions enlarge pons which is low intensity on T1 and high intensity on T2
C. Biopsy lacks clinical utility in these patients
Which of the following is not included in essential diagnostic criteria of diffuse midline glioma, H3 K27M-altered?
● A. A diffuse glioma
● B. Results from molecular analysis enable differentiation of the H3.1 or H3.2 p.K28 (K27)-mutant subtype from the H3.3 p.K28 (K27) mutant type
● C. Loss of H3 p.K28me3 (K27me3) (immunohistochemistry)
● D. Midline location
● E. Presence of a pathogenic mutation or amplification of EGFR (for the EGFR mutant type)
B. Results from molecular analysis enable differentiation of the H3.1 or H3.2 p.K28 (K27)-mutant subtype from the H3.3 p.K28 (K27) mutant type
A young patient presents with seizures and focal neurologic deficit. Imaging shows hemispheric lesion that is typically contrast enhancing and multifocal. The tumor shows to be a cellular infiltrative tumor with mitotic activity AND H3.3 p.G35 R or p.G35 mutation AND hemispheric location AND methylation profile of diffuse hemispheric glioma, H3 G34-mutant. What is most likely diagnosis?
● A. Diffuse pediatric type high-grade glioma, H3 wildtype and IDH wildtype
● B. Infant type hemispheric glioma
● C. Diffuse hemispheric glioma, H3 G34-mutant
● D. Diffuse midline glioma
● E. None of the above
C. Diffuse hemispheric glioma, H3 G34-mutant
What is an essential diagnostic criterion for diffuse pediatric type high-grade glioma, H3 wildtype and IDH wildtype?
● A. A diffuse glioma with mitotic activity occurring in a child or a young adult
● B. Absence of mutation in IDH1 or IDH2
● C. Few (if any) mitotic figures
● D. Absence of mutation in H3 genes
● E. Methylation profile aligned with pHGG RTK1, pHGG RTK2, or pHGG MYCN
● F. All of the above
F. All of the above
Following are features of infant type hemispheric glioma except?
● A. Presentation is usually in the first year of life
● B. It presents with agitation, lethargy, and enlarged head circumference
● C. Spine images are not recommended in addition to brain images
● D. Infants with high-grade glioma fare better than older children
● E. Histology consists of well-demarcated cellular tumors involving brain parenchyma and leptomeninges
C. Spine images are not recommended in addition to brain images
What is an essential diagnostic criterion of infant type hemispheric glioma?
● A. Cellular astrocytoma
● B. Presentation in early childhood
● C. Cerebral hemispheric lesions
● D. Presence of typical tyrosine kinase abnormality
● E. All of the above
E. All of the above
