Gastrointestinal juvenile-like (inflammatory/hyperplastic) mucosal polyps in neurofibromatosis type 1 with no concurrent genetic or clinical evidence of other syndromes

Gloria Ravegnini, Giuseppe Quero, Giulia Sammarini, Maria Cristina Giustiniani, Federica Castri, Maria Grazia Pomponi, Sabrina Angelini, Sergio Alfieri, Maurizio Genuardi, Giuseppe Zamboni, Riccardo Ricci

Research output: Contribution to journalArticle

Abstract

Gastrointestinal “juvenile-like (inflammatory/hyperplastic) mucosal polyps” (JLIHMPs) have been proposed as a neurofibromatosis type 1 (NF1)-specific gastrointestinal manifestation. Juvenile polyposis syndrome (JPS) has also been reported in a NF1 patient, harboring concurrent NF1 and SMAD4 germline mutations. Additionally, NF1-like cafe-au-lait spots have been described in biallelic mismatch repair deficiency, another condition featuring gastrointestinal polyps. The SMAD4 and BMPR1A genes that are involved in 50–60% of JPS cases have not been investigated in the ~ 20 published cases of NF1-associated JLIHMPs with the exception of the abovementioned patient with concomitant JPS and NF1. NF1 defects have been found in the only two cases exhaustively tested. Therefore, JLIHMP has been questioned as an independent, NF1-specific entity. Incidental associations between NF1 and gastrointestinal polyposes at risk for gastrointestinal carcinoma should not be overlooked, given their implications in terms of clinical surveillance. We describe two patients featuring JLIHMPs in clinically/genetically proven NF1, in the absence of SMAD4 and BMPR1A mutations. In one case, the intervening mucosa was markedly inflamed, unlike JPS. We suggest that JLIHMP probably represents a gastrointestinal lesion specific to NF1.

Original languageEnglish
JournalVirchows Archiv
DOIs
Publication statusAccepted/In press - Jan 1 2018

Fingerprint

Neurofibromatosis 1
Polyps
Cafe-au-Lait Spots
Germ-Line Mutation
Mucous Membrane
Carcinoma

Keywords

  • Hyperplastic polyp
  • Inflammatory polyp
  • Juvenile polyp
  • Molecular diagnosis
  • Neurofibromatosis
  • von Recklinghausen disease

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Molecular Biology
  • Cell Biology

Cite this

@article{d4292b350f9a4eafa63242c6fc61e8ea,
title = "Gastrointestinal juvenile-like (inflammatory/hyperplastic) mucosal polyps in neurofibromatosis type 1 with no concurrent genetic or clinical evidence of other syndromes",
abstract = "Gastrointestinal “juvenile-like (inflammatory/hyperplastic) mucosal polyps” (JLIHMPs) have been proposed as a neurofibromatosis type 1 (NF1)-specific gastrointestinal manifestation. Juvenile polyposis syndrome (JPS) has also been reported in a NF1 patient, harboring concurrent NF1 and SMAD4 germline mutations. Additionally, NF1-like cafe-au-lait spots have been described in biallelic mismatch repair deficiency, another condition featuring gastrointestinal polyps. The SMAD4 and BMPR1A genes that are involved in 50–60{\%} of JPS cases have not been investigated in the ~ 20 published cases of NF1-associated JLIHMPs with the exception of the abovementioned patient with concomitant JPS and NF1. NF1 defects have been found in the only two cases exhaustively tested. Therefore, JLIHMP has been questioned as an independent, NF1-specific entity. Incidental associations between NF1 and gastrointestinal polyposes at risk for gastrointestinal carcinoma should not be overlooked, given their implications in terms of clinical surveillance. We describe two patients featuring JLIHMPs in clinically/genetically proven NF1, in the absence of SMAD4 and BMPR1A mutations. In one case, the intervening mucosa was markedly inflamed, unlike JPS. We suggest that JLIHMP probably represents a gastrointestinal lesion specific to NF1.",
keywords = "Hyperplastic polyp, Inflammatory polyp, Juvenile polyp, Molecular diagnosis, Neurofibromatosis, von Recklinghausen disease",
author = "Gloria Ravegnini and Giuseppe Quero and Giulia Sammarini and Giustiniani, {Maria Cristina} and Federica Castri and Pomponi, {Maria Grazia} and Sabrina Angelini and Sergio Alfieri and Maurizio Genuardi and Giuseppe Zamboni and Riccardo Ricci",
year = "2018",
month = "1",
day = "1",
doi = "10.1007/s00428-018-2462-6",
language = "English",
journal = "Virchows Archiv - A Pathological Anatomy and Histopathology",
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T1 - Gastrointestinal juvenile-like (inflammatory/hyperplastic) mucosal polyps in neurofibromatosis type 1 with no concurrent genetic or clinical evidence of other syndromes

AU - Ravegnini, Gloria

AU - Quero, Giuseppe

AU - Sammarini, Giulia

AU - Giustiniani, Maria Cristina

AU - Castri, Federica

AU - Pomponi, Maria Grazia

AU - Angelini, Sabrina

AU - Alfieri, Sergio

AU - Genuardi, Maurizio

AU - Zamboni, Giuseppe

AU - Ricci, Riccardo

PY - 2018/1/1

Y1 - 2018/1/1

N2 - Gastrointestinal “juvenile-like (inflammatory/hyperplastic) mucosal polyps” (JLIHMPs) have been proposed as a neurofibromatosis type 1 (NF1)-specific gastrointestinal manifestation. Juvenile polyposis syndrome (JPS) has also been reported in a NF1 patient, harboring concurrent NF1 and SMAD4 germline mutations. Additionally, NF1-like cafe-au-lait spots have been described in biallelic mismatch repair deficiency, another condition featuring gastrointestinal polyps. The SMAD4 and BMPR1A genes that are involved in 50–60% of JPS cases have not been investigated in the ~ 20 published cases of NF1-associated JLIHMPs with the exception of the abovementioned patient with concomitant JPS and NF1. NF1 defects have been found in the only two cases exhaustively tested. Therefore, JLIHMP has been questioned as an independent, NF1-specific entity. Incidental associations between NF1 and gastrointestinal polyposes at risk for gastrointestinal carcinoma should not be overlooked, given their implications in terms of clinical surveillance. We describe two patients featuring JLIHMPs in clinically/genetically proven NF1, in the absence of SMAD4 and BMPR1A mutations. In one case, the intervening mucosa was markedly inflamed, unlike JPS. We suggest that JLIHMP probably represents a gastrointestinal lesion specific to NF1.

AB - Gastrointestinal “juvenile-like (inflammatory/hyperplastic) mucosal polyps” (JLIHMPs) have been proposed as a neurofibromatosis type 1 (NF1)-specific gastrointestinal manifestation. Juvenile polyposis syndrome (JPS) has also been reported in a NF1 patient, harboring concurrent NF1 and SMAD4 germline mutations. Additionally, NF1-like cafe-au-lait spots have been described in biallelic mismatch repair deficiency, another condition featuring gastrointestinal polyps. The SMAD4 and BMPR1A genes that are involved in 50–60% of JPS cases have not been investigated in the ~ 20 published cases of NF1-associated JLIHMPs with the exception of the abovementioned patient with concomitant JPS and NF1. NF1 defects have been found in the only two cases exhaustively tested. Therefore, JLIHMP has been questioned as an independent, NF1-specific entity. Incidental associations between NF1 and gastrointestinal polyposes at risk for gastrointestinal carcinoma should not be overlooked, given their implications in terms of clinical surveillance. We describe two patients featuring JLIHMPs in clinically/genetically proven NF1, in the absence of SMAD4 and BMPR1A mutations. In one case, the intervening mucosa was markedly inflamed, unlike JPS. We suggest that JLIHMP probably represents a gastrointestinal lesion specific to NF1.

KW - Hyperplastic polyp

KW - Inflammatory polyp

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KW - Molecular diagnosis

KW - Neurofibromatosis

KW - von Recklinghausen disease

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SN - 0945-6317

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