Pediatric-type diffuse low-grade glioma with <i>MYB/MYBL1</i> alteration: report of 2 cases

Kalelioğlu, Tuba; Rama, Bharath; Cho, Benjamin B; Lopes, Beatriz; Patel, Sohil H.

doi:10.1177/19714009221126015

Cited by 12 publications

(12 citation statements)

References 15 publications

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“…A prior report by Johnson et al 8 mentioned a false-positive T2-FLAIR mismatch sign in the following: 1) a pilomyxoid astrocytoma in a 2-year-old child, 2) a non-neoplastic lesion (heterotopic gray matter) in a 12-year-old child, 3) a H3K27M-mutant midline glioma in a 14year-old adolescent, and 4) a low-grade astrocytoma harboring MYB rearrangement in an 18-year-old individual. In addition, Kalelioglu et al 12 reported the T2-FLAIR mismatch sign in 1 of 2 pediatric-type diffuse low-grade gliomas with a MYB/MYBL1 alteration. In our cohort of 352 pLGGs, we found 25 tumors with a T2-FLAIR mismatch (7.1%).…”

Section: Discussionmentioning

confidence: 99%

T2-FLAIR Mismatch Sign in Pediatric Low-Grade Glioma

Wagner

Nobre²,

Namdar

et al. 2023

AJNR Am J Neuroradiol

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BACKGROUND AND PURPOSE: No qualitative imaging feature currently predicts molecular alterations of pediatric low-grade gliomas with high sensitivity or specificity. The T2-FLAIR mismatch sign predicts IDH-mutated 1p19q noncodeleted adult gliomas with high specificity. We aimed to assess the significance of the T2-FLAIR mismatch sign in pediatric low-grade gliomas. MATERIALS AND METHODS:Pretreatment MR images acquired between January 2001 and August 2018 in pediatric patients with pediatric low-grade gliomas were retrospectively identified. Inclusion criteria were the following: 1) 0-18 years of age, 2) availability of molecular information in histopathologically confirmed cases, and 3) availability of preoperative brain MR imaging with non-motiondegraded T2-weighted and FLAIR sequences. Spinal cord tumors were excluded.RESULTS: Three hundred forty-nine patients were included (187 boys; mean age, 8.7 [SD, 4.8] years; range, 0.5-17.7 years). KIAA1549-B-Raf proto-oncogene (BRAF) fusion and BRAF p.V600E mutation were the most common molecular markers (n ¼ 148, 42%, and n ¼ 73, 20.7%, respectively). The T2-FLAIR mismatch sign was present in 25 patients (7.2%). Of these, 9 were dysembryoplastic neuroepithelial tumors; 8, low-grade astrocytomas; 5, diffuse astrocytomas; 1, a pilocytic astrocytoma; 1, a glioneuronal tumor; and 1, an angiocentric glioma. None of the 25 T2-FLAIR mismatch pediatric low-grade gliomas were BRAF p.V600E-mutated. Fourteen of 25 pediatric low-grade gliomas with the T2-FLAIR mismatch sign had rare molecular alterations, while the molecular subtype was unknown for 11 tumors. CONCLUSIONS:The T2-FLAIR mismatch sign was not observed in the common molecular alterations, BRAF p.V600E-mutated and KIAA1549-BRAF fused pediatric low-grade gliomas, while it was encountered in pediatric low-grade gliomas with rare pediatric molecular alterations.ABBREVIATIONS: DNET ¼ dysembryoplastic neuroepithelial tumor; pLGG ¼ pediatric low-grade glioma; RAS/MAPK ¼ RAS-mitogen-activated protein kinase; TKDD ¼ tyrosine kinase domain duplication P ediatric low-grade gliomas (pLGGs) are the most common

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Section: Discussionmentioning

confidence: 99%

T2-FLAIR Mismatch Sign in Pediatric Low-Grade Glioma

Wagner

Nobre²,

Namdar

et al. 2023

AJNR Am J Neuroradiol

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“…The imaging findings have been rarely reported. Reports show that diffuse astrocytoma, MYB‐ or MYBL1 ‐altered is relatively well‐defined nonenhancing tumor, with mixed or hyperintensity on T2‐weighted image and does not show restricted diffusion 43,47 . A representative case is shown in Fig.…”

Section: Specific Molecular and Imaging Featuresmentioning

confidence: 99%

The 2021 WHO Classification for Gliomas and Implications on Imaging Diagnosis: Part 2—Summary of Imaging Findings on Pediatric‐Type Diffuse High‐Grade Gliomas, Pediatric‐Type Diffuse Low‐Grade Gliomas, and Circumscribed Astrocytic Gliomas

Park

Vollmuth

Foltyn-Dumitru

et al. 2023

Magnetic Resonance Imaging

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The fifth edition of the World Health Organization (WHO) classification of central nervous system tumors published in 2021 advances the role of molecular diagnostics in the classification of gliomas by emphasizing integrated diagnoses based on histopathology and molecular information and grouping tumors based on genetic alterations. This Part 2 review focuses on the molecular diagnostics and imaging findings of pediatric-type diffuse high-grade gliomas, pediatric-type diffuse low-grade gliomas, and circumscribed astrocytic gliomas. Each tumor type in pediatric-type diffuse high-grade glioma mostly harbors a distinct molecular marker. On the other hand, in pediatric-type diffuse low-grade gliomas and circumscribed astrocytic gliomas, molecular diagnostics may be extremely complicated at a glance in the 2021 WHO classification. It is crucial for radiologists to understand the molecular diagnostics and imaging findings and leverage the knowledge in clinical practice. Evidence Level: 3 Technical Efficacy: Stage 3.

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“…The tumor belongs to the family of MYB/MYBL1-altered gliomas and is an IDH -wild type. It exhibits low-grade histopathologic features and represents a distinct group of tumors with indolent behavior and a favorable prognosis ( 9 ). The tumor cell proliferation index is low and usually classified as WHO grade 1 ( 13 ).…”

Section: Characteristics Of Pdlggs Of Different Tumor Typesmentioning

confidence: 99%

“…Chiang et al ( 17 ) found that the 10-year progression-free survival and overall survival rates were 89.6% and 95.2%, respectively. The conservative approach is recommended for inert IDH-wild-type diffuse astrocytoma owing to its more favorable prognosis and progression-free survival ( 9 ). Yang et al ( 20 ) found that children with MYB amplification have a better prognosis and longer progression-free survival than those without MYB amplification.…”

Section: Characteristics Of Pdlggs Of Different Tumor Typesmentioning

confidence: 99%

Review on neuroimaging in pediatric-type diffuse low-grade gliomas

Chen,

Qi,

Zhang

et al. 2023

Front. Pediatr.

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The fifth edition of the World Health Organization Classification of Tumors of the Central Nervous System (WHO CNS5) has identified a new classification system for tumors of the brain and spinal cord, highlighting the pivotal role of molecular diagnosis in accurately categorizing neoplasms. In addition to previous classifications, one of the key distinctions lies in categorizing pediatric-type diffuse low-grade gliomas (pDLGGs) and pediatric-type diffuse high-grade gliomas (pDHGGs) as distinct tumor types. Although similar in histology and morphology, pediatric diffuse gliomas are completely different from the adult type with respect to the molecular genetic characteristics, prognosis, and treatment strategies. pDLGG includes four tumor types, namely, diffuse astrocytoma, MYB- or MYBL1-altered; angiocentric glioma; polymorphous low-grade neuroepithelial tumor of the young (PLNTY); and diffuse low-grade glioma, MAPK pathway-altered, three types of which are newly recognized tumor types. Herein, we review the clinical characteristics, histopathological and molecular genetic characteristics, neuroimaging features, and prognosis of pDLGG and summarize the neuroimaging key points in diagnosing different tumor types. This review aims to evaluate and update the relevant pDLGG features and advances in neuroimaging that may assist in differential diagnosis, surgery planning, and prognostic determination of these tumor types and provide accurate diagnostic information for clinical colleagues.

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Pediatric-type diffuse low-grade glioma with MYB/MYBL1 alteration: report of 2 cases

Cited by 12 publications

References 15 publications

T2-FLAIR Mismatch Sign in Pediatric Low-Grade Glioma

T2-FLAIR Mismatch Sign in Pediatric Low-Grade Glioma

The 2021 WHO Classification for Gliomas and Implications on Imaging Diagnosis: Part 2—Summary of Imaging Findings on Pediatric‐Type Diffuse High‐Grade Gliomas, Pediatric‐Type Diffuse Low‐Grade Gliomas, and Circumscribed Astrocytic Gliomas

Review on neuroimaging in pediatric-type diffuse low-grade gliomas

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