Association of BRAF V600E mutations with vasoactive intestinal peptide syndrome in MYCN-amplified neuroblastoma

被引：8

作者：

Shahid, Sanam ^{[1
]}

Kushner, Brian H. ^{[1
]}

Modak, Shakeel ^{[1
]}

Basu, Ellen M. ^{[1
]}

Rubin, Elyssa M. ^{[2
]}

Gundem, Gunes ^{[3
]}

Papaemmanuil, Elli ^{[3
]}

Roberts, Stephen S. ^{[1
]}

机构：

[1] Mem Sloan Kettering Canc Ctr, Dept Pediat, 1275 York Ave, New York, NY 10065 USA

[2] CHOC Childrens, Dept Pediat Oncol, Orange, CA USA

[3] Mem Sloan Kettering Canc Ctr, Dept Epidemiol & Biostat, 1275 York Ave, New York, NY 10021 USA

来源：

PEDIATRIC BLOOD & CANCER | 2021年 / 68卷 / 10期

关键词：

BRAF V600E mutation; MYCN-amplified neuroblastoma; paraneoplastic syndrome; vasoactive intestinal peptide; HIGH-RISK NEUROBLASTOMA; CELLS;

D O I：

10.1002/pbc.29265

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Very rarely, vasoactive intestinal peptide-related diarrhea (VIP-D) is observed in patients with high-risk neuroblastoma (HR-NB) where the associated fluid and electrolyte abnormalities can pose a major clinical challenge for administering the required aggressive multimodality treatment. Two patients with HR-NB developed VIP-D during induction and were found to have a somatic BRAF V600E mutation. Serum VIP levels and diarrhea promptly resolved in both patients after initiating treatment with BRAF and MEK inhibitors. This illustrates an association of VIP-D with BRAF V600E mutations and demonstrates a therapeutic strategy in the specific context of VIP-D and BRAF V600E mutations in HR-NB patients. The addition of BRAF and MEK inhibitors allows continued conventional tumor-directed treatment by decreasing the severity of symptoms caused by this life-threatening complication.

引用

页数：6

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