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

Sanam Shahid; Brian H. Kushner; Shakeel Modak; Ellen M. Basu; Elyssa M. Rubin; Gunes Gundem; Elli Papaemmanuil; Stephen S. Roberts

doi:10.1002/pbc.29265

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

Sanam Shahid, Brian H. Kushner, Shakeel Modak, Ellen M. Basu, Elyssa M. Rubin, Gunes Gundem, Elli Papaemmanuil, Stephen S. Roberts

Research output: Contribution to journal › Article › peer-review

6 Scopus citations

Abstract

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.

Original language	English (US)
Article number	e29265
Journal	Pediatric Blood and Cancer
Volume	68
Issue number	10
DOIs	https://doi.org/10.1002/pbc.29265
State	Published - Oct 2021
Externally published	Yes

Keywords

BRAF V600E mutation
MYCN-amplified neuroblastoma
paraneoplastic syndrome
vasoactive intestinal peptide

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Hematology
Oncology

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10.1002/pbc.29265

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title = "Association of BRAF V600E mutations with vasoactive intestinal peptide syndrome in MYCN-amplified neuroblastoma",

abstract = "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.",

keywords = "BRAF V600E mutation, MYCN-amplified neuroblastoma, paraneoplastic syndrome, vasoactive intestinal peptide",

author = "Sanam Shahid and Kushner, {Brian H.} and Shakeel Modak and Basu, {Ellen M.} and Rubin, {Elyssa M.} and Gunes Gundem and Elli Papaemmanuil and Roberts, {Stephen S.}",

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year = "2021",

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doi = "10.1002/pbc.29265",

language = "English (US)",

volume = "68",

journal = "Pediatric Blood and Cancer",

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T1 - Association of BRAF V600E mutations with vasoactive intestinal peptide syndrome in MYCN-amplified neuroblastoma

AU - Shahid, Sanam

AU - Kushner, Brian H.

AU - Modak, Shakeel

AU - Basu, Ellen M.

AU - Rubin, Elyssa M.

AU - Gundem, Gunes

AU - Papaemmanuil, Elli

AU - Roberts, Stephen S.

PY - 2021/10

Y1 - 2021/10

N2 - 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.

AB - 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.

KW - BRAF V600E mutation

KW - MYCN-amplified neuroblastoma

KW - paraneoplastic syndrome

KW - vasoactive intestinal peptide

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ER -

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

Abstract

Keywords

ASJC Scopus subject areas

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