The importance of escalating molecular diagnostics in patients with low-grade pediatric brain cancer

被引：5

作者：

Al Assaad, Majd ^{[1
,2
]}

Gundem, Gunes ^{[3
]}

Liechty, Benjamin ^{[1
]}

Sboner, Andrea ^{[1
,2
]}

Medina, Juan ^{[3
]}

Papaemmanuil, Elli ^{[3
]}

Sternberg, Cora N. ^{[2
,4
]}

Marks, Asher ^{[5
]}

Souweidane, Mark M. ^{[6
]}

Greenfield, Jeffrey P. ^{[6
]}

Tran, Ivy ^{[7
]}

Snuderl, Matija ^{[7
]}

Elemento, Olivier ^{[2
,8
]}

Imielinski, Marcin ^{[1
,2
]}

Pisapia, David J. ^{[1
,2
]}

Mosquera, Juan Miguel ^{[1
,2
]}

机构：

[1] Weill Cornell Med, Dept Pathol & Lab Med, New York, NY 10065 USA

[2] Weill Cornell Med, Englander Inst Precis Med, New York, NY 10065 USA

[3] Isabl Inc, New York, NY 10065 USA

[4] Weill Cornell Med, Div Hematol Oncol, Dept Med, New York, NY 10065 USA

[5] Yale Med, Pediat Hematol Oncol, New Haven, CT 06520 USA

[6] Weill Cornell Med, Pediat Neurol Surg, New York, NY 10065 USA

[7] NYU Langone Hlth & Sch Med, Dept Pathol, New York, NY 10016 USA

[8] Weill Cornell Med, Dept Physiol & Biophys, New York, NY 10065 USA

来源：

COLD SPRING HARBOR MOLECULAR CASE STUDIES | 2023年 / 9卷 / 04期

关键词：

astrocytoma; glioma; neoplasm of the central nervous system; neoplasm of the nervous system; GENOME;

D O I：

10.1101/mcs.a006275

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

Pilocytic astrocytomas are the most common pediatric brain tumors, typically presenting as low-grade neoplasms. We report two cases of pilocytic astrocytoma with atypical tumor progression. Case 1 involves a 12-yr-old boy with an unresectable suprasellar tumor, negative for BRAF rearrangement but harboring a BRAF p.V600E mutation. He experienced tumor size reduction and stable disease following dabrafenib treatment. Case 2 describes a 6-yr-old boy with a thalamic tumor that underwent multiple resections, with no actionable driver detected using targeted next-generation sequencing. Whole-genome and RNA-seq analysis identified an internal tandem duplication in FGFR1 and RAS pathway activation. Future management options include FGFR1 inhibitors. These cases demonstrate the importance of escalating molecular diagnostics for pediatric brain cancer, advocating for early reflexing to integrative whole-genome sequencing and transcriptomic profiling when targeted panels are uninformative. Identifying molecular drivers can significantly impact treatment decisions and improve patient outcomes.

引用

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