جستجوی مقالات مرتبط با کلیدواژه « Neurofibromatosis 1 » در نشریات گروه « پزشکی »

Neurofibromatosis type 1 (NF-1) is a genetic disorder characterized by café-au-lait macules, freckling, Lisch nodules, and neurofibromas. NF-1 patients have a special predisposition to tumorigenesis due to genetic mutations, affecting the tumor regulator systems. Malignant Peripheral Nerve Sheet Tumor (MPNST) is a highly aggressive soft tissue tumor that is usually associated with NF-1.

A 32-year-old woman was presented complaining of weakness, severe fatigue, weight loss, peripheral paresthesia, progressive generalized myalgia, bone pain, and a mass sensation in her right thigh since three months ago. She was a known case of NF-1 since childhood. After clinical and radiological evaluation, multiple masses were detected in the retroperitoneal cavity adjacent to the left kidney, uterus, and right thigh. Finally, the patient was planned for surgical excision of two masses with subsequent chemotherapy. Both excised masses were confirmed as MPNSTs by histopathological examination.

Regarding the predisposition of NF-1 patients to tumorigenesis and the high prevalence of peripheral nerve tumors among these patients, any masses changing their character should raise suspicion for malignancy. One of the serious malignant lesions is MPNST. The primary treatment plan for these malignant lesions is surgical excision with subsequent chemotherapy or radiotherapy based on individual characteristics.

Breast cancer is the most common cause of death in women. Studies have shown that changes in neurofibromatosis gene expression can cause breast cancer. The aim of this study was to investigate the change of neurofibromatosis type 1 gene expression in non-hereditary breast cancer using real time PCR.

In this study, 160 tissue samples were collected from patients following ethical principles. After lysis of tissues, extraction of RNA and synthesis of cDNA was performed. The amount of gene expression changes was investigated.

The results showed that the level of NF1 gene expression was dependent on the stages of the disease and as the stages progress, the level of expression of this gene showed a significant decrease.

The use of gene biomarkers can help to diagnose and treat diseases faster. Along with examining other candidate genes, using NF1 gene expression analysis in breast cancer patients can be a suitable option for diagnosing the stages of disease progression.

Neurofibromatosis type 1 (NF-1) is a genetic disorder. A heterogeneous group of benign and malignant neoplasms are associated with NF-1. Adrenocortical carcinoma (ACC) is an extremely rare invasive malignancy. The association of ACC with NF1 is not well understood.

We report a case of ACC in the context of NF1 in a 39- year-old woman who referred with the chief complaint of a mass in left abdomen. A left adrenal lesion was diagnosed by CT scan. Biochemical tests showed no abnormality. Adrenalectomy was done and histological and immunohistochemical findings confirmed ACC. Due to the absence of metastasis, clinical stage II was considered for the tumor. On follow-up after six months, she was still alive and well and with no evidence of metastasis. The age of patient and lack of secretion of adrenal cortical hormones in this case were unlike most ACCs.

Also, modified Weiss score for malignancy of adrenocortical neoplasms, clinical staging system and different modality of treatment is discussed.

Neurofibromatosis Type 1 (NF1) is a common autosomal disorder; the criteria for the  diagnosis of NF1 includes café au lait spots, freckling, and Neurofibromas (NF). Skin symptoms  have a major impact on patients’ Quality of Life (QOL) but little is known about the burden of  the disease on patients. The aim of this study was to explore the experiences of patients with NF.

Using purposive sampling, 20 participants were enrolled in this qualitative  content analysis study. The study was carried out between 2019 and 2020. Unstructured interviews  and field notes were used to gather data. Data collection was stopped when data saturation was  achieved.

Data analysis revealed 14 subcategories and 4 categories including “failing and  falling behind in life”, “deprivation and restriction”, “social isolation”, and “ineffective adaptation  to the disease”, which indicate the perception of patients with NF.

In addition to  the physical burden due to physical complications and problems, NF imposes a high degree of  psychological and social burden on patients causing mental conflicts, which in turn results in them  failing and falling behind in life. These findings illustrate the need to develop strategies and use  multidisciplinary approaches to support patients, and thus to reduce the burden of NF.

Anterior Lumbar Meningoceles (MCs) are rare in the patient with Neurofibromatosis type 1 (NF1). Although spinal fusion with optimal resection of the meningocele might be indicated in these special cases, no report could completely describe a huge meningocele after posterior spinal instrumented fusion.

Here we present a 23 years old woman with a history of NF-1 and ‬previous posterior spinal fusion, who was referred to the neurosurgery department because of abdominal pain and retroperitoneal mass secondary to large anterior lumbar MC. The MC was filling the retroperitoneal cavity and protruded to the anterior wall of abdomen. ‬‬‬‬‬As an elective procedure, reduction and closure of cyst was achieved through posterior approach. Postoperatively, the patient reported satisfactory relief of abdominal pain.

Lumbar anterior MC is rare in the patients with NF1. When surgical intervention is indicated, ‬reduction of cele should be considered.