Family History Of Neurofibromatosis Type 1 Research Articles

SAT603 A Heterogeneous Genetic Background Underlies Familial And Young-onset Pituitary Tumors

Abstract Disclosure: J.M. Zuarth-Vazquez: None. R.G. Rebollar-Vega: None. C. Ramírez-Rentería: None. W.E. Hernández-Núñez: None. M. Torres-Morán: None. A.L. Franco-Álvarez: None. J. Eseiza-Acevedo: None. M. Aguilar-Soto: None. D. Cuevas-Ramos: None. E. Sosa-Eroza: None. M. Mercado: None. A. Gamboa-Dominguez: None. L.C. Hernández-Ramírez: None. Introduction: Inherited pituitary neuroendocrine tumors (PitNETs) are considered rare and may present either as isolated lesions or in association with other endocrine tumors. Despite significant progress in the understanding of their molecular basis, the precise pathophysiological mechanisms in many patients with familial and sporadic pituitary tumors are unknown. Although the clinical presentation may point towards a specific genetic cause, a combination of careful clinical assessment and state-of-the-art genetic testing is required. Objective: To describe 4 cases of PitNETs with heterogeneous clinical presentations and genetic causes from a cohort of Mexican patients with neuroendocrine tumors. Methodology: Patients were recruited under informed consent from two different reference hospitals in Mexico City. Germline genetic testing was performed using either a custom-made or a commercial next-generation sequencing (NGS) panel. When available, relevant variants were confirmed in tissue samples. Genetic results were correlated with clinical, biochemical, and imaging characteristics. Results: Case 1 is an 18-year-old male with gigantism due to a 3-cm GH/prolactin-secreting PitNET, that was not cured after transsphenoidal surgery (TSS). Genetic testing showed a CDKN1B (NM_004064.5) c.356T>C, p.I119T variant of uncertain significance. No relevant family history was informed. Currently, the patient is treated with monthly octreotide LAR. Case 2 is a patient with young-onset acromegaly (15y) due to a GH-secreting PitNET. She was initially treated with bromocriptine and then underwent TSS without achieving remission. Radiotherapy was therefore indicated, resulting in panhypopituitarism. The likely pathogenic variant of AIP (NM_003977.4) c.872_877del, p.V291_L292del, was identified. Case 3 was diagnosed at the age of 15 with gigantism, treated with TSS and radiotherapy, subsequently demonstrating biochemical cure. Whole-exome sequencing showed the AIP pathogenic variant c.910C.T, p.R304*, indicative of familial isolated pituitary adenoma, confirmed by the history of two paternal first cousins with gigantism. Finally, a 54-year-old man (case 4), with a personal and family history of neurofibromatosis type 1, was incidentally diagnosed with a 16 mm, apparently non-functional PitNET, for which he is awaiting surgery. The pathogenic NF1 (NM_001042492.3) variant c.147C>A, p.Y49* was identified. Conclusions: Our data confirm that inherited PitNETs encompass a variety of clinical phenotypes. Modern NGS-based genetic testing is an effective method for identifying such cases. Precise molecular testing has an impact on the timely diagnosis of these lesions, as well as on their prognosis and the need for genetic counseling. Presentation: Saturday, June 17, 2023

Jejunal Malignant Peripheral Nerve Sheath Tumor with Preoperative Suspicion of Gastrointestinal Stromal Tumor: Report of a Korean Case and Literature Review

Background: Malignant Peripheral Nerve Sheath Tumors (MPNSTs) are defined as malignant tumors arising from a peripheral nerve or displaying nerve sheath differentiation. We report the first Korean case of MPNST of the ileum. Case Presentation: A 33-year-old female without family history of neurofibromatosis type I complained of lower abdominal pain. An abdomen computed tomography and enhanced magnetic resonance imaging of the pelvis confirmed a 5.6 cm heterogenous lobulated lesion in the ileum. Laparoscopic exploration revealed severe adhesion of the main ileal mass to the sigmoid colon. Laparoscopic adhesiolysis and segmental resection with anastomosis of the ileum was performed. On gross examination, the resected specimen was 6.5 cm and the tumor was located 10 cm proximal and 15 cm distal from the resection margins. In microscopic examination, the nucleus of the tumor cells was oval to elongated shape, showing moderate pleomorphism. Immunohistochemical staining showed that the main tumor cells were positive for S100 and about 10% of the tumor cells were positive for Ki-67. During the 12-month follow-up period, she presented no symptoms and the abdomen CT scans showed no evidence of distant metastasis in the thorax or abdominal recurrence. Conclusion: We report a rare case of a young female with a MPNST of jejunum, suspected of having GIST before surgery and an extensive review of the literature for MPNST in intestinal tract.

S2080 Mucosal Schwann Cell Hamartoma of the Sigmoid Colon in a Transgender Female to Male on Testosterone Therapy: A Case Report

Introduction: Mucosal Schwann cell hamartomas of the gastrointestinal tract are rare benign mesenchymal neoplasms, of which the exact incidence within the population is unknown. First described as a new entity in 2009 by Gibson and Hornick1 in a retrospective case study examining pathology from 26 patients, it is suspected that the increase in incidence of colonic mucosal Schwann cell hamartomas is due to the increase of colorectal cancer screening. As of 2020, there have been 41 documented cases of Schwann cell hamartomas.2 Case Description/Methods: A 63-year-old transgender female to male on testosterone therapy for 10 years and history of adenomatous colon polyps 3 years prior presented for outpatient surveillance colonoscopy. The patient had no personal or family history of neurofibromatosis type 1 (NF1), Cowden syndrome, or multiple endocrine neoplasia (MEN) type 2b. Colonoscopy was notable for a 1 mm sessile polyp in the sigmoid colon (Figure 1) and 4 mm sessile ascending colon polyp. Review of the pathology demonstrated a tubular adenoma without dysplasia in the ascending colon, and in the sigmoid colon S-100 positive spindle cells with elongated nuclei and dense eosinophilic cytoplasm, consistent with a mucosal Schwann cell hamartoma (Figures 2 and 3). Discussion: Our patient presented for routine surveillance colonoscopy and was found to have a rare benign mesenchymal neoplasm of the sigmoid colon, a Schwann cell hamartoma. Mucosal Schwann cell hamartomas are typically small, 1-8 mm, primarily located in the left colon, have a female predominance and an average age at presentation of 62.3 They are not associated with malignancy or inherited syndromes.1,4 The histological differential diagnosis includes schwannoma, neurofibroma, mucosal neuroma, ganglioneuroma, ganglioneurmatosis, perineurioma and GIST, making accurate diagnosis key to avoid unnecessary treatments.4 Interestingly, our patient found to have a mucosal Schwann cell hamartoma of the sigmoid colon is a transgender female to male on testosterone therapy, which to our knowledge has not previously been reported. Recent studies in animal models have suggested testosterone may promote the growth of colorectal adenomas.5 The role of sex hormones in development of these neoplasms has yet to be explored.Figure 1.: Endoscopic finding of a 1 mm sigmoid colon polyp.Figure 2.: Histologic features show spindle cell proliferation, elongated nuclei, and eosinophilic cytoplasm under hematoxylin and eosin-stained sigmoid colonic mucosa. This is consistent with a mucosal Schwann cell hamartoma.Figure 3.: Immunochemistry for S-100 spindle cells within the sigmoid colon. This stain further solidified the diagnosis of Schwann cell hamartoma.

JS03.5.A Pediatric Neurofibromatosis type 1- associated Malignant Peripheral Nerve Sheath Tumors: a national experience

Abstract Background Malignant peripheral nerve sheath tumors (MPNST) are rare soft tissue sarcomas and although less that 10% occur in the pediatric age, they are the most feared complication in the follow-up of Neurofibromatosis Type 1 (NF1) patients. NF1-children tend to have larger tumors and worse prognosis than non-NF1 patients. There is a lack of data regarding MPNST in pediatric populations with NF1, and the present work aims to characterize a Portuguese population of pediatric NF1 patients who developed a MPNST. Material and Methods Retrospective analysis of all NF1-pediatric patients diagnosed with MPNST between 2000 to 2021, from three centers in Portugal. Patient characteristics, treatment modalities and clinical outcomes were reviewed. Results 12 patients (6 males and 6 females) met the inclusion criteria. 7 had no family history of NF1. Median age at diagnosis was 14.1 years (range 10-18). 5 had been diagnosed previously with Plexiform Neurofibroma and were treated with selumetinib (2) and partial surgery (2). MPNSTs were mostly located in the retroperitoneum (7) and in the proximal lower limbs (2). Only 1 patient had a resectable tumor at diagnosis and 3 patients had metastatic disease. In the FDG-PET scan of evaluated patients (7), the mean maximum standardized uptake value of the main lesion was 6 (range 3.6-9.7).Neoadjuvant ifosfamide plus doxorubicin chemotherapy was used in 4 patients. The median overall survival in this population was 10.3 months (95% CI 0.1-20.6) 2 patients remain alive. Conclusion The prognosis of MPNSTs in NF1 pediatric patients is very poor. In a subset of patients, MPNSTs develop from known Plexiform Neurofibromas. Current surveillance ant treatment protocols need to be improved.

485 The association between juvenile xanthogranulomas in neurofibromatosis type 1 patients and the development of leukemia: A systematic review

Importance: A subset of patients with neurofibromatosis type 1 (NF1) develop juvenile xanthogranulomas (JXGs), a non-Langerhans cell histiocytosis, and some of these patients also develop juvenile myelomonocytic leukemia (JMML). Yet, these associations are poorly delineated. Objective: Our objectives in this systematic review was to: (1) clarify the relationship between NF1, JXGs and JMML and identify patients that may benefit from additional screening, (2) describe the clinical characteristics of JXGs arising in NF1. Evidence Review: A literature search was performed within the PubMed database on July 7th, 2021. Articles were included if they were peer-reviewed human studies, in English, and discussed any association between NF1, JXG, and/or leukemia with individual patient data. Findings: Sixty-five articles met eligibility criteria, which included 181 individual patients. Fifty-six patients had NF1 and JXG without leukemia (Group 1), 98 patients had NF1 and leukemia (Group 2), 18 patients had NF1, JXG, and leukemia (Group3), and 9 patients had JXG and leukemia (Group 4). Among the 78 patients with NF1 and JXG, 23% (18/78) developed leukemia, and more specifically, 19% (15/78) developed JMML, which is higher than what has been reported in NF1 patients alone. Majority of patients with the triple association were male (93%, 14/15) and had a family history of NF1 (67%, 8/12). Conclusions: Our findings suggest that the NF1 patients with JXGs have an increased risk of developing JMML and leukemia, especially in males with a family history of NF1. Although the triple association remains rare, closer surveillance and screening of male patients with familial NF1 and JXGs lesions may be reasonable, particularly at early ages.

Urinary bladder paraganglioma with a family history of neurofibromatosis type 1 treated with partial cystectomy.

Urinary bladder paraganglioma with a family history of neurofibromatosis type 1 treated with partial cystectomy.

Reduction Surgery of Giant Hemifacial Neurofibromas: A Case Report

Neurofibromatosis type 1 (NF-1), first described by Von Recklinghausen (1882), is an autosomal dominant disease caused by a spectrum of mutations in NF-1 gene. We reported a case of giant facial neurofibromas in 26 years old male patient without family history of neurofibromatosis type 1. Features typical of neurofibroma, including an enlarged nerve fascicle composed of elongated nuclei and scant cytoplasmic cells, were identified. Excision was performed with preservation of parotid duct. The mass weight was about 5,5 kg. There were some challenges during the procedure, such as bleeding, hypovolemia, and preservation of vital structure.

Predictors of cognitive, behavioural and academic difficulties in NF1

The impact of the Neurofibromatosis type 1 (NF1) on cognition have been subject to much clinical investigation, but environmental modifiers of disease expression have not yet been systematically investigated.The aim of this paper is to determine the role of demographic and environmental factors such as age, sex, socioeconomic status, parental NF1 status and neurological complications on the cognitive, behavioural and academic outcomes in NF1.Participants included 206 children aged 4–18 years seen within the Manchester clinical research NF1 service. Multiple linear regression models were used to study the effect of the hypothesized predictor variables on cognitive, behavioural and academic outcomes.Relative to population norms, 80% of the NF1 sample demonstrated significantly lower scores in at least one cognitive, behavioural or academic domains. Family history of NF1 and lower SES were independently associated with poorer cognitive, behavioural and academic outcomes. Neurological problems such as epilepsy and hydrocephalus were associated with lower IQ and academic skills.Cognitive and behavioural phenotypes emerge commonly via a complex interplay between genes and environmental factors, and this is true also of a monogenic condition such as NF1. Early interventions and remedial education may be targeted to risk groups such those with familial NF1, families with lower SES and those with associated neurological comorbidities.

RARE-16. A PATIENT WITH MOSAIC POST-ZYGOTIC KRAS-G12D PATHOGENIC VARIANT PRESENTING WITH A SYMPTOMATIC SPINAL NEUROFIBROMA AND LARGE SEGMENTAL TRUNCAL CAFÉ AU LAIT SPOT

An 11 year old boy presented with a three month history of progressive bilateral lower extremity weakness associated with recent intermittent incontinence. Spine MRI showed a right-sided T11-T12 paraspinal mass extending through the neural foramina into the epidural space and causing severe spinal cord compression. Skin showed a large macular lightly-hyperpigmented café au lait spot with irregular borders along the T10-T12 dermatome extending from the spine to approximately the anterior-axillary line. He was suspected to have segmental neurofibromatosis type 1 (NF1) as no additional clinical findings, radiographic features or family history of NF1 were identified. Patient underwent T10-12 laminectomy for resection of the epidural tumor component. Post-operative MRI showed resolution of the mass effect on the thecal sac and cord, with expected tumor residual lateral to the neural foramen. His residual spinal tumor and mild scoliosis remained stable over the two years of follow up to date. Pathological and molecular analysis of the resected tumor revealed a neurofibroma harboring an activating KRAS c.35G>A, p.Gly12Asp (KRAS-G12D) pathogenic variant at 27% variant allele frequency. Melanocytes cultured from two hyperpigmented skin biopsies showed the same KRAS-G12D pathogenic variant. This KRAS-G12D pathogenic variant was not found in leukocytes, indicating a post-zygotic origin. No NF1 pathogenic variant was identified in tumor tissue, melanocytes or leukocytes. The clinical findings were consistent with a mosaic KRASopathy due to a post zygotic KRAS-G12D pathogenic variant. The presence of the KRAS variant in the spinal neurofibroma and overlaying café au lait spot without an NF1 etiology in associated tissues demonstrates overlapping variability of presentations of RAS-MAPK pathway disorders. This case highlights the need for full clinical and genetic evaluation of patients presenting with segmental neurocutaneous disorders.

A Retrospective Chart Review of Children in Neurocutaneous Clinic Who May Benefit from Further Evaluation Beyond Neurofibromatosis Type I

While most individuals with a clinical diagnosis of Neurofibromatosis type 1 (NF1) have a detectable pathogenic variant in the NF1 gene, other conditions have phenotypic features overlapping with NF1. Without molecular confirmation, individuals may be misdiagnosed and have a different underlying condition. Namely, if a child has constitutional mismatch repair deficiency (CMMRD), early detection and prevention strategies for cancer risk would include surveillance recommendations not typically recommended for children with NF1. This study aimed to explore phenotypes of individuals with a clinical diagnosis of NF1 to identify subpopulations who may benefit from further genetic counseling or testing for an alternate diagnosis. Retrospective review of 240 medical records of children who attended a neurocutaneous clinic identified 135 children with a molecularly confirmed pathogenic variant in NF1 or autosomal dominant pattern of clinical NF1 ('controls') and 102 children deemed 'at-risk' for another condition like CMMRD. Clinical presentation, family history of NF1, personal history of cancer, and family history of cancer were compared. When comparing clinical presentation, family history, and cancer history, minimal statistical differences were found, indicating that the at-risk population appears clinically indistinguishable from those with a clear diagnosis of NF1. Given the lack of distinguishable features between the at-risk and control population, this study suggests that tiered genetic testing for all individuals being evaluated for NF1 may be beneficial for identifying patients who may be misdiagnosed with NF1 and subsequently mismanaged.

Clinical diagnosis of neurofibromatosis type I in multiple family members due to cosegregation of a unique balanced translocation with disruption of the NF1 locus: Testing considerations for accurate diagnosis

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that causes a predisposition to develop tumors along the peripheral nervous system. The NF1 gene, located at 17q11.2, has the highest mutation rate among known human genes and about half of NF1 patients have de novo pathogenic variants. We present a case of clinical NF1 diagnoses in multiple family members with phenotypes ranging from mild to severe. Chromosome analysis of the 3-year-old female proband with NF1 resulted in an abnormal karyotype that was inherited from her mother: 46,XX,t(4;17)(q21.3;q11.2) mat. However, no NF1 genetic variants were identified by either NGS analysis of NF1 DNA coding regions, deletion-duplication studies, or by cytogenomic microarray copy number analysis. Follow-up chromosome studies of the proband's two male siblings demonstrated cosegregation of the same balanced translocation and a clinical diagnosis of NF1. Based on the cosegregation of the translocation with the NF1 clinical presentation in this family, we hypothesized that the NF1 gene may have been disrupted by this unique rearrangement. Subsequent fluorescence in situ hybridization (FISH) analysis of the metaphase cells of an affected sibling revealed a disruption of the NF1 gene confirming the underlying basis of the clinical NF1 presentation in this family. The utilization of traditional cytogenetic as well as evolving molecular methods was not only pivotal in the diagnosis of NF1 and management for this family, but is also pertinent to other patients with a family history of NF1.

Multiple phakomatoses and primary open-angle glaucoma in one individual

A 50-year-old woman presented with conjunctival melanosis, scleral pigmentation, and Lisch nodules in her left eye. Intraocular pressure was 24 mmHg in the right eye and 14 mmHg in the left eye. She had open angles on gonioscopy. Fundus examination showed a cup-to-disc ratio of 0.7 in the right eye, with an inferior notch and a splinter hemorrhage, and 0.6 in the left eye, with a deep cup with sloping rims. Humphrey visual fields showed an evolving superior arcuate scotoma in her right eye; the left eye was normal. Systemic examination showed axillary freckling. The patient had a family history of neurofibromatosis type 1 (NF-1), her father having been diagnosed with the condition. She had hyperpigmentation of the skin over the forehead and periocular skin on the left side. These unique ocular and systemic features were suggestive of two phakomatoses, NF-1 and nevus of Ota, in one eye, and primary open-angle glaucoma (POAG) in the other eye. that is, three pathologies present together in the same individual, which is an extremely rare occurrence.

Large intramuscular plexiform neurofibroma of thigh: a multidisciplinary team approach

<p>Large plexiform neurofibroma of lower extremity involving the muscle is a rare entity. In this article we present the case of plexiform neurofibroma of right thigh involving the muscular plane and entrapment of the sciatic nerve. A 28 year lady presented with a plexiform neurofibroma of right thigh of size 60 cm×30 cm×25 cm with a positive family history of neurofibromatosis type 1. MRI was done for the assessment of the tumour and the adjacent structure involvement. The neurofibroma was removed with a multidisciplinary team approach with an intensive peri operative management. The pathological diagnosis was plexiform neurofibroma with diffuse neurofibroma. We have reported a rare case of large plexiform neurofibroma of lower extremity with muscle involvement and nerve entrapment.</p>

Pelvic plexiform neurofibromatosis presenting with genital numbness

Neurofibromatosis type I is a common autosomal dominant inherited disorder of neural crest origin, affecting 1 in 3000 people.1 Plexiform neurofibromas, benign peripheral nerve sheath tumours, are considered pathognomonic of...

Factors of epilepsy in children with neurofibromatosis type 1 in Turkey

Objectives: Epilepsy is one of the complications of neurofibromatosis type 1 (NF1). The aim of this study was to investigate the relationship between risk factors and epileptic seizures in NF1 patients. Materials & Methods: We retrospectively studied 105 Turkish children with NF1 in this study. Results: We found 15 (14.3%) patients epilepsy patients in our study. The mean age at onset of seizures was 7.33± 4.33 years (range 1 to 15 years). The most common seizure type was partial onset seizures. In the epilepsy patients, unidentified bright objects (UBOs) were present in seven patients, brain tumors in four patients, mesial temporal sclerosis in one patient, hydrocephalus in one patient, and cortical dysplasia in one patient. One patient had normal neuroimaging findings. There was no correlation between epilepsy and age, sex, consanguinity, family history of NF1, family history of epilepsy, neurologic deficits, presence of UBOs, location of UBOs, and presence of optic pathway glioma. We found that intellectual disability, and brain tumors were a significant risk factors for epilepsy development. Conclusions: The occurrence of epileptic seizures in NF1 patients is related to intellectual disability and brain tumors.

Recurrent epithelioid malignant peripheral nerve sheath tumor with neurofibromatosis type 1: A case report and literature review

Malignant peripheral nerve sheath tumors (MPNSTs) are unusual and aggressive malignant soft-tissue tumors that comprise 5–10% of all soft-tissue sarcomas. Approximately 50% of MPNST cases are associated with neurofibromatosis type-1 (NF-1). As a rare MPNST subset, the epithelioid variant of MPNST (eMPNST) is histologically characterized by the predominant presence of epithelioid tumor cells, and accounts for <5% of all MPNSTs. In addition, eMPNST is rarely associated with NF-1 when compared with conventional MPNST. Although extensive clinicopathological studies have been conducted on eMPNST, clinicians face difficulty when attempting to make an accurate diagnosis. Subsequently, the biological consequences, including recurrence, metastasis and mortality rate in patients with eMPNST remain unclear. The current study presents the case of a 71-year-old woman with eMPNST and a family history of NF-1 in whom tumors had recurred twice on the lower back. A literature search for eMPNSTs was conducted by browsing PubMed and MEDLINE for English-language articles, as well as references from review articles, and revealed 129 published cases. Only 5 cases of eMPNST were associated with NF-1. The studies were retrospectively reviewed and the clinicopathological data of the patients, including tumor site, treatment, follow-up, prognosis, and immunohistochemical positivity were collected.

Adaptive functioning in children with neurofibromatosis type 1: relationship to cognition, behavior, and magnetic resonance imaging.

To characterize the adaptive behavior profile of children with neurofibromatosis type 1 (NF1) and determine its relationship to neuropsychological functioning and non-neoplastic T2-weighted hyperintense brain lesions on brain magnetic resonance imaging (MRI). In this cross-sectional study, we retrospectively reviewed neuropsychological reports from 104 children with NF1 (56 males, 48 females; mean age 10y 4mo; standard deviation [SD] 3y 4mo; range 3y 5mo-17y 6mo), and extracted data from a range of cognitive and behavioral measures, including the Adaptive Behavior Assessment System (ABAS). Brain MRI was retrospectively reviewed in 42 individuals. Adaptive Behavior Assessment System scores were continuously distributed and pathologically shifted by 0.79 to 1.26SD across Conceptual, Social, and Practical domains, and 46.5% of individuals had a composite score in the borderline or impaired range. Impairment in adaptive functioning was correlated with deficits in executive function (r=-9.543, p<0.001), externalizing problems (r=-0.366, p<0.001), and attention (r=-9.467, p=0.001). Cluster analysis revealed three distinct phenotypic subgroups, one of which exhibited normal cognitive ability, but impaired adaptive functioning, with persistent deficits in executive function, behavioral problems, and attention-deficit/hyperactivity disorder symptomatology. There was no relationship between ABAS scores and the number or location of unidentified bright objects. Adaptive functioning deficits are common among children with NF1 and are associated with impairment in other cognitive/behavioral domains, independent of general cognitive ability. Deficits in adaptive behavior are common in children with neurofibromatosis type 1 (NF1). Poor adaptive functioning is associated with impairments in executive function, externalizing behaviors, and attention, regardless of cognitive ability. The presence or location of unidentified bright objects do not predict adaptive behavior skills in children with NF1.

First report of coexistence of sickle cell disease and neurofibromatosis Type 1 in a Saudi patient with family history of neurofibromatosis Type 1

Sickle cell disease is highly prevalent in Saudi Arabia, especially in the eastern and southern regions of the country. Neurofibromatosis Type 1 is one of the most common autosomal dominant disorders. In our case, we report a coexistence of both these diseases in a 15-year-old girl. This coexistence has never been reported in literature. Clinical manifestations of both the diseases and their possible link with each disease are discussed.

A rare case of a solitary perianal neurofibroma

Neurofibromas are benign nerve sheath tumors commonly associated with Neurofibromatosis type 1 (NF1). In patients without the diagnosis of the NF1, these lesions are referred to as solitary neurofibromas. Gastrointestinal involvement is exceedingly rare in NF1 and can manifest in a variety of different ways. This case report involves a 50-year-old hispanic female with an isolated neurofibroma of the perianal region in the absences of any medical or family history of NF1. Since there are very few cases of solitary neurofibromas reported in literature, it is important to document such cases and follow patients with this disease closely given that it can be an initial presentation of NF1 and because of its possible malignant potential.

Knowledge and Self-Esteem of Individuals with Neurofibromatosis Type 1 (NF1).

Neurofibromatosis Type 1 (NF1) is a progressive genetic disorder characterized by physical findings such as café-au-lait macules, Lisch nodules, and neurofibromas in addition to other medical complications. Learning and social problems are more prevalent among individuals affected with NF1. It has been reported that people with NF1 have lower self-esteem (SE) when compared to the general population. Additionally, a study published over 20years ago found that overall knowledge of NF1 was lacking in individuals affected with the condition. The goals of our study were to evaluate NF1 knowledge in adolescents and adults with the condition, as well as to determine if there is a link between patient knowledge and SE. Furthermore, we explored the impact of other factors, such as attendance at a NF1 support group and having a family history of NF1, on knowledge and SE. A survey comprised of knowledge-based questions and the Rosenberg Self-Esteem Scale was distributed to individuals with NF1 through the Texas NF Foundation. Overall, the 49 respondents (13 to 73years of age) had a mean knowledge score of 77.9% correct answers. Consistent with previous studies, the SE of our study population was lower when compared to general population norms. Although no correlation between knowledge and SE was observed, SE scores were on average higher if a person reported the following: having friends with NF1 (p=0.009); attending a NF1 support group (p=0.006); receiving care at a NF clinic (p=0.049); or having received genetic counseling (p=0.008). Further research is needed to better understand the relationship between these factors and SE in the NF1 population.