TY - JOUR
T1 - An Unusual Pelvic Mass in a Pediatric Patient
T2 - A Case Report and Review of the Pathology
AU - Bauman, Brent D.
AU - Moertel, Christopher L.
AU - Zheng, Eugene
AU - Louiselle, Amanda
AU - Berdan, Elizabeth
AU - Berger, David
AU - Segura, Bradley
N1 - Publisher Copyright:
© 2017 Wolters Kluwer Health, Inc. All rights reserved.
PY - 2017
Y1 - 2017
N2 - Introduction: Neurofibromatosis type 1 (NF1) is the most commonly inherited autosomal dominant disorder in humans. NF1 patients have increased risk for gastrointestinal stromal tumors (GISTs). A Meckel's diverticulum (MD) represents a persistent embryonic omphalomesenteric duct characterized as a true diverticulum located near the ileocecal valve. We report a unique clinical case whereby a patient with NF1 developed a GIST within a MD. Case: An adolescent male with NF1 presented with persistent lower abdominal pain. Clinical evaluation demonstrated a large pelvic mass. In the operating room, the mass was noted to emerge from a MD. Final pathology demonstrated a GIST with negative margins and CD117 positivity. Discussion: Patients with NF1 are at increased risk for mesenchymal tumors including malignant peripheral nerve sheath tumors. GISTs are the most important and frequent non-neurological malignancy in NF1 and develop in ∼7% of NF1 patients. GISTs tend to be multifocal in NF1; however, they rarely occur within a Meckel's diverticula. Conclusions: Our case represents a rare case of a patient with NF1 who developed a symptomatic GIST within a MD. We recommend utilizing laparoscopy to determine resectability and clarify the diagnosis in this unique patient population who are at risk for multiple neoplasms.
AB - Introduction: Neurofibromatosis type 1 (NF1) is the most commonly inherited autosomal dominant disorder in humans. NF1 patients have increased risk for gastrointestinal stromal tumors (GISTs). A Meckel's diverticulum (MD) represents a persistent embryonic omphalomesenteric duct characterized as a true diverticulum located near the ileocecal valve. We report a unique clinical case whereby a patient with NF1 developed a GIST within a MD. Case: An adolescent male with NF1 presented with persistent lower abdominal pain. Clinical evaluation demonstrated a large pelvic mass. In the operating room, the mass was noted to emerge from a MD. Final pathology demonstrated a GIST with negative margins and CD117 positivity. Discussion: Patients with NF1 are at increased risk for mesenchymal tumors including malignant peripheral nerve sheath tumors. GISTs are the most important and frequent non-neurological malignancy in NF1 and develop in ∼7% of NF1 patients. GISTs tend to be multifocal in NF1; however, they rarely occur within a Meckel's diverticula. Conclusions: Our case represents a rare case of a patient with NF1 who developed a symptomatic GIST within a MD. We recommend utilizing laparoscopy to determine resectability and clarify the diagnosis in this unique patient population who are at risk for multiple neoplasms.
KW - Meckel's diverticulum
KW - gastrointestinal stromal tumors
KW - neurofibromatosis type 1
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U2 - 10.1097/MPH.0000000000000773
DO - 10.1097/MPH.0000000000000773
M3 - Review article
C2 - 28085744
AN - SCOPUS:85010868611
SN - 1077-4114
VL - 39
SP - 306
EP - 308
JO - Journal of pediatric hematology/oncology
JF - Journal of pediatric hematology/oncology
IS - 4
ER -