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Imaging diagnosis of plexiform neurofibroma- unravelling the confounding features: A report of two cases.

ABSTRACT: Peripheral nerve sheath tumors such as neurofibroma, comprise 5% of all benign soft tissue tumors and usually occur due to an underlying neurofibromatosis. A plexiform neurofibroma, which is a tumor occurring exclusively in neurofibromatosis1, is a rare entity and is an uncommon variant of neurofibroma. We report the clinical and imaging features of plexiform neurofibroma in two young male patients, in whom the imaging diagnosis was confirmed after biopsy. The report not only aims to highlight the characteristic imaging features of plexiform neurofibroma but we also emphasize the ultrasound appearances which are significantly characteristic and can effectively lead to the correct diagnosis at the preliminary stage of investigation. The tumors which originate from nerve sheath, are large, lobulated masses and demonstrate typical imaging features of simultaneous involvement of subcutaneous and cutaneous tissues along with infiltrative invasion of deeper structures. The tumors characteristically display fat and fluid contents and a "target sign' on evaluation by ultrasound, CT and MRI. Imaging plays an important role in confirming the diagnosis, delineating involved structures, excluding simulating conditions and forewarning a possible malignant transformation.

SUBMITTER: Grover DSB

PROVIDER: S-EPMC8343807 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Features of CT and EUS in mesenteric plexiform neurofibroma with Neurofibromatosis type I: A case report.

Project description:Plexiform neurofibroma(PNF) is a rare benign tumor of the peripheral nerve, belonging to a subtype of neurofibroma. PNF is common in the head, neck and trunk. It is uncommonly observed in the mesentery. We report a case of mesenteric PNF in a 64-year-old man history of neurofibromatosis type I(NF1), which caused abdomen pain. In addition, the computer tomography(CT) and endoscopic ultrasonography(EUS) manifestations of mesenteric PNF were analyzed. The imaging appearance of a mesenteric plexiform neurofibroma is that many low-density (CT) /mixed echo (EUS) soft tissue masses surrounding the superior mesenteric artery, but not surrounding the superior mesenteric vein. Our case adds to the limited literature regarding NF1 presenting with mesenteric PNF. The computer tomography and endoscopic ultrasonography may facilitate confirma diagnosis of mesenteric PNF.

| S-EPMC8203574 | biostudies-literature

Intraparotid facial nerve plexiform neurofibroma in a child (case report).

Project description:Background:Intraparotid facial nerve neurofibromas are benign neoplasms, extremely rare, difficult to diagnose and to manage. Only three pediatric cases have been reported in the literature. Case presentation:We report the 4th case of a 7-year-old child admitted for a parotid mass without facial palsy, for whom the surgical indication was the increase in volume of this mass, as well as the aesthetical impairment, the surgical exploration found the tumor attached to the lower branch of the division of the facial nerve. The excision of the mass was performed with the sacrifice of the inferior branch of the facial nerve, the trunk and the upper branch of the facial nerve was preserved, the pathological study was in favor of a plexiform neurofibroma.The patient has presented postoperatively a grade 5 facial palsy in the inferior territory of the facial nerve with a slight recovery 1 year after surgery. Conclusion:Even though plexiform neurofibromas in the parotid gland are extremely rare, and their diagnosis are not often primary evoked in front of any growing mass of this region, the surgeon must keep in mind the existence of these neoplasms as a differential diagnosis of a parotid tumor.

| S-EPMC7229263 | biostudies-literature

Computed tomography imaging features of malignant 'triton' tumor to facilitate its clinical diagnosis: report of two cases.

Project description:BackgroundMalignant 'triton' tumor is an extremely rare subtype of malignant periphery nerve sheath tumors. Clinical diagnosis of malignant triton tumor is difficult before surgery due to its low incidence and the lack of knowledge. Therefore, to describe and summarize the CT imaging characteristics of malignant triton tumor is of great assistance for early and preoperative diagnosis.Case presentationTwo cases suspected of MTT by CT scan before operation were closely observed. The diagnosis of malignant triton tumor was eventually confirmed by immunochemical assay, which verified speculation of CT scans. Huge, irregular, well-circumscribed lobulated mass-like shadows can be observed from these patients by CT scans. Besides, heterogeneity of density within the body of tumor was well-established by CT scans, together with linear septum. Meanwhile, CT scans demonstrated that calcifications were remarkable at the margin of tumor body.ConclusionsSome CT image features from two cases were presented as a reference for the preoperative consideration of MTT: (i) enormity of mass-like shadow; (ii) presence of well-circumscribed lobulated shape; (iii) septum within the well-defined mass accompanied with hemorrhage, necrosis and cystic changes as well as calcification, especially within neurofibromatosis type 1 patients.

| S-EPMC9284860 | biostudies-literature

Plexiform neurofibroma with neurofibromatosis type I/ von Recklinghausen's disease: A rare case report.

Project description:IntroductionPlexiform neurofibroma with neurofibromatosis type 1 (NF1) or Von Recklinghausen's disease is a rare entity and occurs in approximately 5-15% patients. These are slow growing, painless and locally infiltrating tumors. The pattern of inheritance is autosomal dominant and its penetrance is almost complete by 5 years of age.Presentation of caseWe hereby report a case of 13 years old boy visited presenting with swelling of right eyelid and forehead. After surgical removal, the tissue was sent for histopathological evaluation. Microscopy revealed an unencapsulated tumor mass comprising of well organized mixture of multiple nerve bundles with interlacing neural tissue in background of spindle shaped cells along with myxoid areas and numerous blood vessels.DiscussionThe NF1 gene responsible for the disease is located on chromosome 17 at locus 17q11.2 that codes for the protein neurofibromin. The frequency of neomutations is particularly high and almost half of the cases are sporadic. NF1 is characterized by a wide variability of clinical expressions, even within a given family. Majority of patients can be diagnosed only after thorough physical examination.ConclusionThe wide variation of the clinical expression, the tumor risk and the totally unpredictable evolution of the disease impose regular monitoring of NF1 patients. This surveillance is mainly clinical and has to be adapted to the patient's age in order to assure early management of complications.

| S-EPMC7473834 | biostudies-literature

Case report: Multimodal imaging diagnosis of a giant coronary artery fistula: A report of two cases

Project description:Being a very rare cardiac disease, most cases of coronary artery fistula (CAF) are genetic. Complications such as coronary steal syndrome, myocardial infarction, heart failure, or tamponade can manifest following the abnormal communication that the fistula creates between the coronary arteries and cardiac chambers or major vessels and the subsequent shunt. Most CAFs are small and asymptomatic, making diagnosis difficult. In symptomatic patients, the initial diagnostic workup is generally made with chest radiography and electrocardiography. Other imaging modalities have also been suggested to improve diagnostic accuracy. Cardiac catheterization and coronary angiography are currently the gold standard for diagnosis and planning the intervention, as they can recognize the quantum of the shunt as well as complications of a fistulous track (e.g., aneurysm formation, thrombus, leak, and the number of openings to the receiving chamber/vessel); however, this invasive method may be associated with risk. Herein, we report two patients with giant CAFs, one from the left circumflex artery to the coronary sinus and the other to the superior vena cava. Moreover, we describe how multimodal imaging, including two- and three-dimensional transesophageal echocardiography, coronary cineangiography, coronary computed tomography angiography, and enhanced chest computed tomography, can facilitate diagnosis and estimate the disease course in such patients. We believe that using multimodal imaging cannot only help the initial diagnosis regarding the presence of a CAF and the accurate anatomical site of the fistula in the patient but can also help predict the disease course and choose the most suitable treatment modality. Therefore, we suggest multimodal imaging be done to diagnose patients suspected of CAF. However, invasive cineangiography should be necessarily followed, regardless of whether an intervention is planned or not.

| S-EPMC9644096 | biostudies-literature

BCRP expression in schwannoma, plexiform neurofibroma and MPNST.

Project description:Backgroundperipheral nerve sheath tumors comprise a broad spectrum of neoplasms. Vestibular schwannomas and plexiform neurofibromas are symptomatic albeit benign, but a subset of the latter pre-malignant lesions will transform to malignant peripheral nerve sheath tumors (MPNST). Surgery and radiotherapy are the primary strategies to treat these tumors. Intrinsic resistance to drug therapy characterizes all three tumor subtypes. The breast cancer resistance protein BCRP is a transmembrane efflux transporter considered to play a key role in various biological barriers such as the blood brain barrier. At the same time it is associated with drug resistance in various tumors. Its potential role in drug resistant tumors of the peripheral nervous system is largely unknown.Objectiveto assess if BCRP is expressed in vestibular schwannomas, plexiform neurofibromas and MPNST.Material and methodsimmunohistochemical staining for BCRP was performed on a tissue microarray composed out of 22 vestibular schwannomas, 10 plexiform neurofibromas and 18 MPNSTs.Resultssixteen out of twenty-two vestibular schwannomas (73%), nine out of ten plexiform neurofibromas (90%) and six out of eighteen MPNST (33%) expressed BCRP in the vasculature. Tumor cells were negative.ConclusionBCRP is present in the vasculature of vestibular schwannomas, plexiform neurofibromas and MPSNT. Therefore, it may reduce the drug exposure of underlying tumor tissues and potentially cause failure of drug therapy.

| S-EPMC5687642 | biostudies-literature

Massive Plexiform Neurofibroma of the Neck and Larynx.

Project description:Introduction Laryngeal neurofibromas are extremely rare, accounting for only 0.03 to 0.1% of benign tumors of the larynx. Objectives To report the first case of massive neck plexiform neurofibroma with intralaryngeal (supraglottic) extension in a 5-year-old boy with neurofibromatosis type 1 and to describe its treatment. Resumed Report This massive plexiform neurofibroma was surgically removed, relieving its significant respiratory obstructive symptoms without recurrence to date. Conclusion Massive neck plexiform neurofibroma with supraglottic part was found in a child with neurofibromatosis type 1; it should be included in differential diagnosis of stridor and neck mass in children. It was diagnosed and removed in early in childhood without recurrence.

| S-EPMC4593905 | biostudies-other

A rare cause of cervical swelling: Solitary plexiform neurofibroma.

Project description:IntroductionPlexiform cervical neurofibromas are benign neoplasm, extremely rare, difficult to diagnose and to manage. Only some cases have been reported in the literature.Case presentationWe report the case of a 60-year-old man admitted for a lateral neck mass, for which the surgical indication was the increase in volume of this mass, as well as the aesthetical impairment, the surgical exploration found the tumor attached to the cervical plexus. The excision of the mass was performed without damaging nerve. The pathological study was in favor of a plexiform neurofibroma.DiscussionEven though Plexiform cervical neurofibroma are extremely rare, and their diagnosis are not often primary evoked in front of any growing mass of this region, the surgeon must keep in mind the existence of these neoplasms as a differential diagnosis of a neck tumor.ConclusionSurgery remains the gold standard in the treatment of these locally invasive tumors. It is essential that the surgeon keep in mind the possibility of these tumors as a differential diagnosis of a neck tumor.

| S-EPMC7988485 | biostudies-literature

Plexiform neurofibroma of the submandibular salivary gland: a rare tumour.

Project description:UnlabelledA 15 year old boy presented with swelling in the submandibular region. X ray of the part showed faint radio opaque shadow. A provisional diagnosis of sialadenitis with sialiolithiasis was made. Excised mass was reported histopathologically as plexiform neurofibroma of submandibular salivary gland. Plexiform neurofibroma of the salivary gland is a rare benign tumour, often present in the parotid gland. It is very rare in submandibular salivary gland. It is a slow growing, locally infiltrating tumour.Electronic supplementary materialThe online version of this article (doi:10.1007/s12262-010-0174-5) contains supplementary material, which is available to authorized users.

| S-EPMC3087058 | biostudies-literature

MicroRNA-155 contributes to plexiform neurofibroma growth downstream of MEK.

Project description:MicroRNAs (miRs) are small non-coding RNAs that can have large impacts on oncogenic pathways. Possible functions of dysregulated miRs have not been studied in neurofibromatosis type 1 (NF1) plexiform neurofibromas (PNFs). In PNFs, Schwann cells (SCs) have biallelic NF1 mutations necessary for tumorigenesis. We analyzed a miR microarray comparing with normal and PNF SCs and identified differences in miR expression, and we validated in mouse PNFs versus normal mouse SCs by qRT-PCR. Among these, miR-155 was a top overexpressed miR, and its expression was regulated by RAS/MAPK signaling. Overexpression of miR-155 increased mature Nf1-/- mouse SC proliferation. In SC precursors, which model tumor-initiating cells, pharmacological and genetic inhibition of miR-155 decreased PNF-derived sphere numbers in vitro, and we identified Maf as a miR-155 target. In vivo, global deletion of miR-155 significantly decreased tumor number and volume, increasing mouse survival. Fluorescent nanoparticles entered PNFs, suggesting that an anti-miR might have therapeutic potential. However, treatment of established PNFs using anti-miR-155 peptide nucleic acid-loaded nanoparticles marginally decreased tumor numbers and did not reduce tumor growth. These results suggest that miR-155 plays a functional role in PNF growth and/or SC proliferation, and that targeting neurofibroma miRs is feasible, and might provide novel therapeutic opportunities.

| S-EPMC7867646 | biostudies-literature

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