Bay Biosciences provides high quality, clinical grade, fresh frozen tumor tissue bio-specimens, cryogenically preserved sera (serum), plasma and peripheral blood mononuclear cells (PBMC) biofluid samples from patients diagnosed with Nevoid Basal Cell Carcinoma Syndrome (NBCCS).
The sera (serum), plasma and PBMC biofluid specimens are processed from patient’s peripheral whole-blood using customized collection and processing protocols. The nevoid basal cell carcinoma syndrome (NBCCS) fresh frozen tissue samples and biofluids are collected from unique patients diagnosed with nevoid basal cell carcinoma syndrome (NBCCS) and are provided to a valued pharmaceutical customer for research, diagnostics, discovery and drug development.
Detailed clinical data, nevoid basal cell carcinoma syndrome (NBCCS) patients history, symptoms, complete blood count (CBC), serology, chemotherapy information, tumor biopsy tissue blocks, elevated biomarker levels, genetic and metabolic information, histopathological findings, annotations associated with nevoid basal cell carcinoma syndrome (NBCCS) specimens is provided to a valued customer for research, development and drug discovery.
The nevoid basal cell carcinoma syndrome (NBCCS) tumor sera (serum), plasma and peripheral blood mononuclear cells (PBMC) biofluid are processed from patients peripheral whole-blood using customized collection and processing protocols.
Nevoid Basal Cell Carcinoma Syndrome (NBCCS) Overview
The nevoid basal cell carcinoma syndrome (NBCCS) is a rare, complex genetic disorder characterized by a wide variety of developmental abnormalities and a predisposition to developing certain forms of cancer, particularly a type of skin cancer known as basal cell carcinoma. Nevoid basal cell carcinoma syndrome (NBCCS) is also known as Gorlin-Goltz syndrome.
Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is a hereditary disease characterized by multiple basal cell skin cancers. It also affects the skin, endocrine system, nervous system, eyes and bones. Other common signs include jaw cysts, pits on the palms of the hands or soles of the feet, calcium deposits in the brain, developmental disability, and skeletal (bone) changes. The appearance of a patient with NBCCS may include a larger head size, a prominent forehead, broad bridge of the nose, widely spaced eyes, skin cysts, and small skin bumps called milia.
The jaw cysts and basal cell skin cancers may develop in the first ten years of a person’s life, but they may not appear until the teenage years or any time during adulthood. Children with NBCCS may have the appearance features described above, including pits on their hands and feet. There is a small (5%) chance for children with NBCCS to develop a type of brain cancer called medulloblastoma. Rarely, benign (not cancerous) growths in the ovaries and heart may also be found.
Multiple basal cell skin cancers and jaw cysts are the most common features of NBCCS and are present in about 90% of people who have the condition. There are several other features that have been associated with NBCCS. The number of features present and the severity of symptoms can vary among people with NBCCS, even within the same family. Patients with darker skin with NBCCS may have jaw cysts as the primary feature of the disease and may develop far fewer sun-related basal cell skin cancers than patients with lighter skin with NBCCS. Jaw cysts may cause symptoms such as bone deformity, infections and pain, or they may be seen through an x-ray.
Causes of Nevoid Basal Cell Carcinoma Syndrome (NBCCS)
Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is a genetic condition. This means that the cancer risk and other features of NBCCS can be passed from generation to generation in a family. The major gene associated with NBCCS is called PTCH. A mutation (alteration) in the PTCH gene gives a patients an increased risk of basal cell skin cancer and other symptoms of NBCCS. Research is ongoing to learn more about NBCCS and to identify other genes involved, such as SUFU.
Sun exposure and radiation therapy increase the number of basal cell skin cancers develop in the NBCCS patients. Some individuals may have thousands of basal cell cancers in areas of skin that are exposed to the sun or radiation therapy.
Signs and Symptoms of Nevoid Basal Cell Carcinoma Syndrome (NBCCS)
Following are the common signs and symptoms of basal cell nevus syndrome (NBCCS) in the development of basal cell carcinoma in adolescence or young adulthood. Basal cell nevus syndrome is also responsible for the development of other cancers in a person’s early life, including:
- Medulloblastoma (a malignant brain tumor, usually in children)
- Breast cancer
- Non-Hodgkin’s lymphoma (NHL)
- Ovarian cancer
Patients who have basal cell nevus syndrome often have unique physical features as well. Examples include:
- Pitting in the palms of the hands or on the feet
- Cleft palate
- Eyes that are spaced far apart
- Protruding jaw
- Spinal problems, including scoliosis or kyphosis(abnormal curvatures of the spine)
Some patients with basal cell nevus syndrome will also develop tumors in their jaw. These tumors are known as keratocystic odontogenic tumors and can cause the person’s face to swell. In some instances, the tumors will displace their teeth.
If the condition is severe, additional symptoms may result. For example, basal cell nevus syndrome can affect the nervous system. This can cause:
- Blindness
- Deafness
- Seizures
- Intellectual Disability
Diagnosis of Nevoid Basal Cell Carcinoma Syndrome (NBCCS)
A doctor will perform a physical exam to see if you have any of the following:
- Keratocystic odontogenic tumors
- Hydrocephalus (fluid on the brain that leads to head swelling)
- Abnormalities in the ribs or spine
To confirm the diagnosis of NBCCS, the doctor may also order additional tests. These may include:
- Echocardiogram
- MRI of the head
- Biopsy (if you have tumors)
- X-Ray of the head and jaw
- Genetic testing
Bay Biosciences is a global leader in providing researchers with high quality, clinical grade, fully characterized human tissue samples, bio-specimens and human bio-fluid collections from cancer (tumor) tissue, cancer serum, cancer plasma cancer PBMC and human tissue samples from most other therapeutic areas and diseases.
Bay Biosciences maintains and manages it’s own bio-repository, human tissue bank (biobank) consisting of thousands of diseased samples (specimens) and from normal healthy donors available in all formats and types. Our biobank procures and stores fully consented, deidentified and institutional review boards (IRB) approved human tissue samples and matched controls.
All our human human tissue collections, human specimens and human bio-fluids are provided with detailed samples associated patient’s clinical data. This critical patient’s clinical data includes information relating to their past and current disease, treatment history, lifestyle choices, biomarkers and genetic information. Patient’s data is extremely valuable for researchers and is used to help identify new effective treatments (drug discovery & development) in oncology, other therapeutic areas and diseases. This clinical information is critical to demonstrate their impact, monitor the safety of medicines, testing & diagnostics, and generate new knowledge about the causes of disease and illness.
Bay Biosciences banks wide variety of human tissue samples and biological samples including cryogenically preserved -80°C, fresh, fresh frozen tissue samples, tumor tissue samples, FFPE’s, tissue slides, with matching human bio-fluids, whole blood and blood derived products such as serum, plasma and PBMC’s.
Bay Biosciences is a global leader in collecting and providing human tissue samples according to the researchers specified requirements and customized, tailor made collection protocols. Please contact us anytime to discuss your special research projects and customized human tissue sample requirements.
Bay Biosciences provides human tissue samples (human specimens) from diseased and normal healthy donors; including peripheral whole-blood, amniotic fluid, bronchoalveolar lavage fluid (BAL), sputum, pleural effusion, cerebrospinal fluid (CSF), serum (sera), plasma, peripheral blood mononuclear cells (PBMC’s), saliva, Buffy coat, urine, stool samples, aqueous humor, vitreous humor, kidney stones, renal calculi, nephrolithiasis, urolithiasis and other bodily fluids from most diseases including cancer. We can also procure most human bio-specimens and can do special collections and requests of human samples that are difficult to find. All our human tissue samples are procured through IRB approved clinical protocols and procedures.
In addition to the standard processing protocols Bay Biosciences can also provide human plasma, serum, PBMC bio-fluid samples using custom processing protocols, you can buy donor specific sample collections in higher volumes and specified sample aliquoting from us. Bay Biosciences also provides human samples from normal healthy donors, volunteers, for controls and clinical research, contact us Now.
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