Recurrent Gastric Gastrointestinal Stromal Tumor in a Patient with Neurofibromatosis

Momani, Laith Al; Abughanimeh, Omar; Shipley, Lindsey C.; Phemister, Jennifer; Swenson, James; Young, Mark

doi:10.7759/cureus.2854

Cited by 3 publications

(4 citation statements)

References 11 publications

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“…Surgical resection is a commonly used treatment modality for bleeding GISTs, while other options include adjuvant and neo-adjuvant Imatinib, a tyrosine kinase inhibitor [6,13,14]. Benjamin et al showed increased survival with surgical resection compared to chemotherapy alone [15].…”

Section: Discussionmentioning

confidence: 99%

The Gastrointestinal Stromal Tumors of It: A Rare Presentation of Neurofibromatosis Type I

Hudgi¹,

Azam²,

Masood³

et al. 2021

Cureus

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Neurofibromatosis-1 (NF-1) is an autosomal dominant condition characterized by cutaneous pigmentation and tumour formation along nerves in the brain, skin, and other organs. Gastrointestinal stromal tumours (GIST) are rare mesenchymal tumours involving the gastrointestinal tract (GI) associated with NF-1. We present a case of life-threatening GI bleeding from GIST in a patient with NF-1. In NF-1 patients presenting with GI bleeding, GISTs should be part of the differential. Clinicians must have a low threshold for urgent abdominal imaging if endoscopy does not detect the source of GI bleeding.

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Section: Discussionmentioning

confidence: 99%

The Gastrointestinal Stromal Tumors of It: A Rare Presentation of Neurofibromatosis Type I

Hudgi¹,

Azam²,

Masood³

et al. 2021

Cureus

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“…The birth incidence is estimated to be 1:3000 via autosomal dominant transmission[5]. The underlying pathogenesis is thought to be based on biallelic loss of the NF-1 tumor suppressor gene that leads to loss of neurofibromin, a negative regulator of RAS signaling[6].…”

Section: Discussionmentioning

confidence: 99%

“…No recurrences or metastases were found after long-term follow-up, but there are a few exceptions. Momani et al[6] reported a recurrent GIST in a patient with neurofibromatosis. The tumor cells from our two cases were well differentiated and low proliferative activity, and tumors were small in size.…”

Section: Discussionmentioning

confidence: 99%

KIT and platelet-derived growth factor receptor α wild-type gastrointestinal stromal tumor associated with neurofibromatosis type 1: Two case reports

Kou

Zhang

et al. 2019

WJCC

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BACKGROUNDGastrointestinal stromal tumors (GISTs) associated with neurofibromatosis are uncommon compared to their gastrointestinal counterparts. Patients with neurofibromatosis type 1 (NF-1) have an increased risk of developing gastrointestinal tumors, including rare types such as GIST.CASE SUMMARYA 60-year-old male Chinese patient was diagnosed with NF-1 10 years ago and presented with upper abdominal discomfort and black stools. Endoscopic ultrasonography and an enhanced abdominal computed tomography scan revealed a mass located 4 cm from the muscular layer of the descending duodenum. A 59-year-old Chinese woman who was diagnosed with NF-1 25 years ago presented with sudden unconsciousness and black stools. Multiple masses in the duodenum were noted by echogastroscopy and an enhanced abdominal computed tomography scan. Both patients presented with cutaneous neurofibromas. The histologic examination of tumors from both patients revealed spindle cells and low mitotic activity. Immunohistochemically, the tumor cells showed strong positivity for KIT (CD117), DOG-1, CD34, and Dehydrogenase Complex Subunit B, and negativity for SMA, desmin, S-100, and β-catenin. None of the six tumors from two patients had KIT exon 9, 11, 13, or 17 or platelet-derived growth factor receptor α exon 12 or 18 mutation, which is a typical finding for sporadic GISTs. None of the six tumors from the two patients had a BRAFV600E mutation. The patients were alive and well during the follow-up period (range: 0.6-5 yr).CONCLUSIONThere have been only a few previous reports of GISTs associated with NF-1. Although GISTs associated with NF-1 have morphologic and immunohistochemical similarities with GISTs, the pathogenesis, incidence, genetic background, and prognosis are not completely known. A medical history of NF-1 in a patient who has gastrointestinal bleeding or anemia and an intra-abdominal mass with nonspecific computed tomography features may help in diagnosing GIST by virtue of the well-known association of these two entities. Molecular genetic studies of cases indicated that GISTs in NF-1 patients have a different pathogenesis than sporadic GISTs.

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“…The mortality rate was reported to be highest in young adulthood, between ages 15 and 30 years [4]. In addition, a previous case report highlighted the ability of NF1-associated GISTs to recur throughout a patient's life [14]. This, along with the mortality rate being higher in younger adults with NF1-associated GISTs, makes detecting the tumor in younger patients even more crucial.…”

Section: Discussionmentioning

confidence: 99%

The Bleeding Bowel: A Rare Case of Neurofibromatosis Type 1-associated Gastrointestinal Stromal Tumor in a Young Male

Kalayanamitra

Shahid

Shah

et al. 2019

Cureus

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Individuals with neurofibromatosis type 1 are much more likely to develop gastrointestinal stromal tumors than those without this condition. The median age for patients with neurofibromatosis type 1-associated gastrointestinal stromal tumors is approximately 65 years. We present a case of a young male with a history of neurofibromatosis type 1 who presented with symptomatic anemia and melena and was ultimately found to have a gastrointestinal stromal tumor.

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Recurrent Gastric Gastrointestinal Stromal Tumor in a Patient with Neurofibromatosis

Cited by 3 publications

References 11 publications

The Gastrointestinal Stromal Tumors of It: A Rare Presentation of Neurofibromatosis Type I

The Gastrointestinal Stromal Tumors of It: A Rare Presentation of Neurofibromatosis Type I

KIT and platelet-derived growth factor receptor α wild-type gastrointestinal stromal tumor associated with neurofibromatosis type 1: Two case reports

The Bleeding Bowel: A Rare Case of Neurofibromatosis Type 1-associated Gastrointestinal Stromal Tumor in a Young Male

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