Abstract:Neurofibromatosis type 1 (NF1) is one of the most common genetic disorders. Gastrointestinal manifestations of NF-1 are seldom thought of in routine clinical practice and might thus be significantly under-recognised. Their heterogeneous spectrum ranges from localised microscopic proliferative lesions to grossly recognizable mass-forming neurofibromas, neuroendocrine and gastrointestinal stromal tumours (GIST). The aim of this study is discussing the imaging evaluation and characterisation of the abdomen lesion… Show more
“…With this pattern approach, a sensitivity of 94% and specificity of 77% was reached to differentiate patients with residual tumor from patients with a complete response, which is higher than that previously reported for studies without a pattern-based evaluation. Alternative approaches combining morphological T2-weighted with DWI patterns have recently been proposed by other authors [45]. Results of these various approaches remain to be compared and validated in prospective settings.Fig.…”
In recent years, neoadjuvant chemoradiotherapy (CRT) has become the standard of care for patients with locally advanced rectal cancer. Until recently, patients routinely proceeded to surgical resection after CRT, regardless of the response. Nowadays, treatment is tailored depending on the response to chemoradiotherapy. In patients that respond very well to CRT, organ-preserving treatments such as watch-and-wait are increasingly considered as an alternative to surgery. To facilitate such personalized treatment planning, there is now an increased demand for more detailed radiological response evaluation after chemoradiation. MRI is one of the main tools used to assess response, but has difficulties in assessing response within areas of post-radiation fibrosis. Hence, MR sequences such as diffusion-weighted imaging are increasingly adopted in clinical MR protocols to improve the differentiation between tumor and fibrosis. In this pictorial review, we discuss the strengths and weaknesses of modern MR imaging, including functional imaging sequences such as diffusion-weighted MRI, for response evaluation after chemoradiation treatment and provide the main pearls and pitfalls for image interpretation.
“…With this pattern approach, a sensitivity of 94% and specificity of 77% was reached to differentiate patients with residual tumor from patients with a complete response, which is higher than that previously reported for studies without a pattern-based evaluation. Alternative approaches combining morphological T2-weighted with DWI patterns have recently been proposed by other authors [45]. Results of these various approaches remain to be compared and validated in prospective settings.Fig.…”
In recent years, neoadjuvant chemoradiotherapy (CRT) has become the standard of care for patients with locally advanced rectal cancer. Until recently, patients routinely proceeded to surgical resection after CRT, regardless of the response. Nowadays, treatment is tailored depending on the response to chemoradiotherapy. In patients that respond very well to CRT, organ-preserving treatments such as watch-and-wait are increasingly considered as an alternative to surgery. To facilitate such personalized treatment planning, there is now an increased demand for more detailed radiological response evaluation after chemoradiation. MRI is one of the main tools used to assess response, but has difficulties in assessing response within areas of post-radiation fibrosis. Hence, MR sequences such as diffusion-weighted imaging are increasingly adopted in clinical MR protocols to improve the differentiation between tumor and fibrosis. In this pictorial review, we discuss the strengths and weaknesses of modern MR imaging, including functional imaging sequences such as diffusion-weighted MRI, for response evaluation after chemoradiation treatment and provide the main pearls and pitfalls for image interpretation.
“…In addition to neurofibromas, patients with NF‐1 are at risk of developing a variety of other neoplasms. In the gastrointestinal tract (GI), this syndrome is associated with several types of lesions that have been placed into four categories 1‐3 :Hyperplastic and neoplastic lesions of intestinal neural tissue such as neurofibromas, diffuse mucosal/submucosal neurofibromatosis, and ganglioneuromatosis. Rare cases of schwannoma and malignant peripheral nerve sheath tumors of the GI have also been reported in NF‐1 patients.Gastrointestinal stromal tumor: GIST is the most common tumors of the gastrointestinal tract in NF‐1 patients with a reported incidence of 5%‐25% 2 .…”
Section: Figurementioning
confidence: 99%
“…Therefore, although the rarity of such occurrence was confirmed based on our literature review, the combination of such cytologic findings almost exclusively occurred in patients with NF‐1. Hence, the coexistence of a duodenal/periampullary NET and GIST is deemed virtually pathognomonic for NF‐1 syndrome 1‐3 …”
The identification of two cell populations displaying different cytologic characteristics in the same fine needle aspiration (FNA), one with an epithelioid appearance and the other spindle cell morphology, is an extremely rare phenomenon and potentially represents a source of diagnostic confusion. Depending on the lineage and relationship of the two cell types, the differential diagnosis is broad and encompasses a wide spectrum of entities. The current case describes the presence of nests and clusters of neuroendocrine cells associated with rare spindle cell fragments of gastrointestinal stromal tumor (GIST) in the same fine needle aspiration of a duodenal mass. Our literature analysis revealed that such combined cytologic findings were hitherto never reported and the concurrence of well‐differentiated neuroendocrine tumor (NET) and GIST is almost pathognomonic for neurofibromatosis type 1 (NF‐1).
“…An increased incidence of different types of gastrointestinal tract tumors has previously been described in NF1, mostly comprising of neuroendocrine neoplasms and GISTs (Agaimy, Vassos, & Croner, ; Garrouche et al, ). GISTs are estimated to occur in up to 6%–7% of NF1 patients (Nishida et al, ; Zöller, Rembeck, Odén, Samuelsson, & Angervall, ), although the diagnosis and registration of asymptomatic and small GISTs may be incomplete.…”
Section: Introductionmentioning
confidence: 97%
“…Other diagnostic tools include computed tomography (CT), magnetic resonance imaging (MRI), or positron emission tomography. CT or ultrasound‐guided needle biopsies or laparoscopy may be required (Garrouche et al, ; Nishida, Kawai, Yamaguchi, & Nishida, ).…”
Background
Type 1 neurofibromatosis (NF1) is a genetic tumor predisposing Rasopathy. NF1 patients have an increased risk for developing benign and malignant tumors, but the occurrence of intestinal tumors has not been investigated at the population level.
Methods
In this retrospective register‐based total population study, diagnoses of gastrointestinal tract tumors were retrieved from the Finnish Care Register for Health Care for 1,410 NF1 patients and 14,030 reference persons. We also reviewed the death certificates of 232 NF1 patients who died during years 1987–2013, and specifically searched for diagnosis of gastrointestinal stromal tumor (GIST).
Results
The register analysis revealed an increased overall hazard ratio (HR) of 2.6 (95% CI 1.9–3.6) for intestinal tumors in NF1 compared to general population. The highest HR of 15.6 (95% CI 6.9–35.1) was observed in the small intestine. The focused analysis of NF1 death certificates and GISTs demonstrated that the GIST was the primary cause of death in seven patients.
Conclusion
This study emphasizes the need for careful evaluation of NF1 patients with gastrointestinal complaints. The challenge in diagnosis is that the tumors preferably occur at the small intestine, which is difficult target for diagnostic procedures. We also show that the NF1 GISTs may lead to fatal outcome despite of benign histopathological findings at the time of the diagnosis.
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