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MPNST of the abdominal wall in a patient with lynch syndrome: A case report of a rare presentation and unique association

INTRODUCTION: The abdominal wall is an extremely rare location for malignant peripheral nerve sheath tumors (MPNSTs). Besides presenting a rare location of MPNST, the peculiarity of our case lies in its association with Lynch syndrome, which is to our knowledge the first reported case of its kind. P...

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Autores principales: Hasnaoui, Anis, Kacem, Salma, Sassi, Imen, Ben Abdallah, Fakhreddine, El Guesmi, Sondes
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10445449/
https://www.ncbi.nlm.nih.gov/pubmed/37603917
http://dx.doi.org/10.1016/j.ijscr.2023.108677
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author Hasnaoui, Anis
Kacem, Salma
Sassi, Imen
Ben Abdallah, Fakhreddine
El Guesmi, Sondes
author_facet Hasnaoui, Anis
Kacem, Salma
Sassi, Imen
Ben Abdallah, Fakhreddine
El Guesmi, Sondes
author_sort Hasnaoui, Anis
collection PubMed
description INTRODUCTION: The abdominal wall is an extremely rare location for malignant peripheral nerve sheath tumors (MPNSTs). Besides presenting a rare location of MPNST, the peculiarity of our case lies in its association with Lynch syndrome, which is to our knowledge the first reported case of its kind. PRESENTATION OF CASE: We present a case report of a 39-year-old male with a personal history of colonic cancer. Genetic counseling revealed Lynch syndrome with a heterozygous germline mutation in MLH1. Nine years after the right hemicolectomy, the patient presented with an asymptomatic lump in the abdominal wall. CT imaging showed a 3 cm mass in the aponeurosis of the right external oblique muscle. The patient underwent successful resection of the parietal tumor. Pathological examination revealed an MPNST. No additional treatment was warranted, and the patient exhibited no signs of relapse during the six months following the surgery. DISCUSSION: MPNSTs of the anterior abdominal wall are extremely rare and challenging. Some studies have investigated the presence of mismatch repair (MMR) deficiency in patients with sarcomas. Our case consolidates the hypothesis of an association between sarcomas and Lynch syndrome, which raises the question of the efficacy of immune checkpoint inhibitor therapy in these cases where treatment options remain limited. CONCLUSION: It is essential to have a deep understanding of the growth patterns of MPNSTs in the context of syndromes that predispose individuals to tumors, like Lynch syndrome. This knowledge is crucial for accurately predicting patient outcomes and developing appropriate plans for monitoring and treatment.
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spelling pubmed-104454492023-08-24 MPNST of the abdominal wall in a patient with lynch syndrome: A case report of a rare presentation and unique association Hasnaoui, Anis Kacem, Salma Sassi, Imen Ben Abdallah, Fakhreddine El Guesmi, Sondes Int J Surg Case Rep Case Report INTRODUCTION: The abdominal wall is an extremely rare location for malignant peripheral nerve sheath tumors (MPNSTs). Besides presenting a rare location of MPNST, the peculiarity of our case lies in its association with Lynch syndrome, which is to our knowledge the first reported case of its kind. PRESENTATION OF CASE: We present a case report of a 39-year-old male with a personal history of colonic cancer. Genetic counseling revealed Lynch syndrome with a heterozygous germline mutation in MLH1. Nine years after the right hemicolectomy, the patient presented with an asymptomatic lump in the abdominal wall. CT imaging showed a 3 cm mass in the aponeurosis of the right external oblique muscle. The patient underwent successful resection of the parietal tumor. Pathological examination revealed an MPNST. No additional treatment was warranted, and the patient exhibited no signs of relapse during the six months following the surgery. DISCUSSION: MPNSTs of the anterior abdominal wall are extremely rare and challenging. Some studies have investigated the presence of mismatch repair (MMR) deficiency in patients with sarcomas. Our case consolidates the hypothesis of an association between sarcomas and Lynch syndrome, which raises the question of the efficacy of immune checkpoint inhibitor therapy in these cases where treatment options remain limited. CONCLUSION: It is essential to have a deep understanding of the growth patterns of MPNSTs in the context of syndromes that predispose individuals to tumors, like Lynch syndrome. This knowledge is crucial for accurately predicting patient outcomes and developing appropriate plans for monitoring and treatment. Elsevier 2023-08-18 /pmc/articles/PMC10445449/ /pubmed/37603917 http://dx.doi.org/10.1016/j.ijscr.2023.108677 Text en © 2023 The Authors. Published by Elsevier Ltd on behalf of IJS Publishing Group Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Hasnaoui, Anis
Kacem, Salma
Sassi, Imen
Ben Abdallah, Fakhreddine
El Guesmi, Sondes
MPNST of the abdominal wall in a patient with lynch syndrome: A case report of a rare presentation and unique association
title MPNST of the abdominal wall in a patient with lynch syndrome: A case report of a rare presentation and unique association
title_full MPNST of the abdominal wall in a patient with lynch syndrome: A case report of a rare presentation and unique association
title_fullStr MPNST of the abdominal wall in a patient with lynch syndrome: A case report of a rare presentation and unique association
title_full_unstemmed MPNST of the abdominal wall in a patient with lynch syndrome: A case report of a rare presentation and unique association
title_short MPNST of the abdominal wall in a patient with lynch syndrome: A case report of a rare presentation and unique association
title_sort mpnst of the abdominal wall in a patient with lynch syndrome: a case report of a rare presentation and unique association
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10445449/
https://www.ncbi.nlm.nih.gov/pubmed/37603917
http://dx.doi.org/10.1016/j.ijscr.2023.108677
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