Symptoms and General Pathology

All Conditions

Neoplasms

Skin and Connective Tissue Diseases

Diseases and Abnormalities at or Before Birth

Rare Diseases

Syndrome

Melanoma

Skin Neoplasms

Dysplastic Nevus Syndrome

Nevus, Pigmented

Nevus

Neuroendocrine Tumors

Neuroectodermal Tumors

Neuroectodermal Tumors, Primitive

Neoplasms, Germ Cell and Embryonal

Neoplasms by Histologic Type

Neoplasms, Nerve Tissue

Nevi and Melanomas

Skin Diseases

Neoplastic Syndromes, Hereditary

Genetic Diseases, Inborn

Neuroendocrine Tumor

Neuroepithelioma

NCI Family Study Referrals

Michael R Sargen, M.D.

For more information at the NIH Clinical Center contact National Cancer Institute Referral Office

This study will investigate how genetic and environmental factors contribute to the development of melanoma, a type of skin cancer, and related conditions.

Individuals \>=4 weeks with a personal or family history of melanoma or atypical spitzoid/Spitz tumor may be eligible for this study. Participants will:

* Fill out one or two questionnaires about their personal and family medical history.
* Provide written consent for researchers to review their medical records and pathology materials related to their care and those of deceased relatives with melanomas, tumors, cancer, or other related illnesses for whom they are the next-of-kin or legally authorized representative.
* Donate a blood or cheek cell sample to be used for genetic studies. (The blood sample is collected through a needle in an arm vein. The cheek cell sample is obtained either by gently brushing the inside of the mouth with a soft brush or by swishing a tablespoon of mouthwash and then spitting it into a container.)
* Undergo a skin biopsy (removal of a small piece of skin tissue) for genetic study. For this procedure, the area of skin to be removed is numbed with a local anesthetic and a 1/4-inch piece of skin is excised with a cookie cutter-like instrument. The wound is then covered with a band-aid.

Participants may be asked to travel to the NIH Clinical Center for evaluation, including a medical history, physical examination, and some of the following procedures:

* Full body skin examination to evaluate the type and number of moles and document any evidence of sun damage to the skin. The examination involves all the skin from the scalp to the bottoms of the feet. After the examination, a medical photographer will photograph the skin, with close-ups of skin lesions marked by the examiner. If there are parts of the skin the participant does not want examined or photographed, he or she can tell the examiner.
* Blood draw of about 120 milliliters (4 ounces) or less
* Skin biopsy
* Cheek cell sample
* X-rays, ultrasound and magnetic resonance imaging (MRI) studies to detect tumors or changes in tumors or other types of changes in specific tissues. MRI is a diagnostic test that uses strong magnetic fields and radiowaves to examine body tissues. The subject lies on a table that is moved into a large tunnel-like machine (the scanner) for about 45 minutes to 1 hour.

When the tests are finished, a doctor will discuss the results with the participant and the need, if any, for clinical follow-up.

Study Description:

Melanoma-prone families and individuals with risk factors for melanoma, including people with Spitzoid tumors and giant congenital nevi, are human models of susceptibility to neoplasia from which mechanisms of cancer susceptibility may be elucidated. For most of the high-risk cancer susceptibility genes, including CDKN2A and CDK4 in melanoma-prone families, germline mutations conferring risk have been found through family studies. Investigations of individuals and families at high risk of melanoma have led to etiologic clues that are important in the general population and have identified persons most likely to benefit from chemoprevention trials and screening programs aimed at early diagnosis of melanoma.

Objectives:

1. To evaluate and define the clinical spectrum and natural history of disease in syndromes predisposing to melanoma
2. To evaluate potential precursor states of disease in individuals and families at risk
3. To quantify risks of melanoma, pancreatic cancer, and other cancers in family members and individuals with an elevated risk for melanoma
4. To map, clone, and determine function of tumor susceptibility genes in melanoma-prone families, including modifier genes such as pigmentation or dysplastic nevi genes
5. To identify genetic determinants and gene-environmental interactions conferring melanoma (and other cancer) risk in individuals and families
6. To evaluate gene-gene and gene-environment interactions in melanoma (and other cancer) formation
7. To characterize genetic alternations in precursor lesions and melanomas that occur in individuals and families with an increased risk of melanoma.
8. To educate and counsel study participants about their melanoma risk and methods for primary and secondary prevention of melanoma
9. To develop educational materials for medical professionals and high-risk family members

Endpoints:

Primary endpoints:

All cancers that occur in individuals and families at high risk of melanoma

Secondary endpoints:

Secondary endpoints are markers of pre-malignant conditions, such as dysplastic nevi, giant congenital nevi, and Spitzoid tumors

Clinical, Laboratory, and Epidemiologic Characterization of Individuals and Families at High Risk of Melanoma

1. Identification of major susceptibility genes for melanoma and dysplastic nevi. 2. Prospective risk of melanoma after initial exam and melanoma education. 3. Mortality of melanoma in families. 4. Identification of other risk factors for familial melanoma. 5. Identification of other cancers in melanoma-prone individuals and families.

Identify markers, genes in premalignant conditions.

National Cancer Institute (NCI)

Melanosis

Pigmentation Disorders

Nevus, Spindle Cell

Nevus, Blue

Nevus, Epithelioid and Spindle Cell

Hyperplasia

Hyperpigmentation

Central Nervous System Depressants

All Drugs and Chemicals

Anti-Infective Agents

Anesthetics

Formaldehyde

Only data from medical records and formalin-fixed paraffin-embedded tissue blocks will be collected from patients in this cohort. Patients with skin or mucosal melanoma and dysplastic nevi which have been already excised are eligible. FFPE tissue blocks with MPATH-Dx Class 1-2 vs Class 3-5 will be collected in approximately 1:1 ratio

Only data from medical records, formalin-fixed paraffin-embedded tissue blocks and cytologic slides will be collected from patients in this cohort. Patients with skin or mucosal melanoma and dysplastic nevi which have been already excised are eligible. FFPE tissue blocks with MPATH-Dx Class 1-2 vs Class 3-5 will be collected in approximately 1:1 ratio

Patients with pigmented lesions on the skin or mucosa who are referred for excisional biopsy will be offered to apply investigated non-invasive adhesive system on their lesion just before the excisional biopsy. After biopsy cytological slides and FFPE tissue blocks will be prepared. All three types of obtained samples will be investigated separately (adhesive patches, cytologic slides and FFPE tissue blocks) for genetic markers whereas cytologic slides and FFPE tissue blocks will be processed also routinely and regular cytologic and histopathologic report will be generated.

The already registered on the market adhesive skin patch will be applied and removed for several times on the pigmented skin (or mucosal) lesion just before the preplanned excisional biopsy after local anaesthesia have been already administered. Excisional biopsy and local anaesthesia are not the part of this study and will be carried out according to local practice

Non-invasive adhesive system (patch)

Igor V Samoylenko, MD, PhD

Lev V Demidov, MD, PhD

Oxana E Garanina, MD, PhD

Irena L Shlivko, MD, PhD, DSc

Igor Samoylenko, MD, PhD

Kirill Baryshnikov, MD, PhD

Kristina V Orlova, MD, PhD

This is a multicenter, ambispective, low-interventional clinical study evaluating molecular genetic markers for non-invasive differential diagnosis of benign and malignant pigmented skin and mucosal neoplasms. In retrospective cohorts genetics markers will be identified. In prospective cohort non-invasive adhesive system will be tested to identify malignant or benign lesions with prespecified sensitivity and specificity compared to other non-invasive techniques (i.e. dermoscopy) and using histopathological examination as a "golden standard".

Ambispective study with two retrospective cohorts and one prospective cohort

Atypical MOLes and Melanoma Early Detection Study (MoleMed)

A Multicenter, Ambispective, Low-interventional Clinical Study Evaluating Molecular Genetic Markers for Non-invasive Differential Diagnosis of Benign and Malignant Pigmented Skin and Mucosal Neoplasms

•Assessment of the sensitivity and specificity of a complex of molecular genetic studies applicable for non-invasive differential diagnosis of benign and malignant melanocytic neoplasms of the skin and mucous membranes in comparison with a standard histological examination

Assessment of the sensitivity, specificity, positive and negative prognostic significance of the developed molecular genetic method for non-invasive differential diagnosis of benign and malignant pigmented neoplasms of the skin and mucous membranes in comparison with clinical diagnosis with an naked eye by an oncologist or dermatologist

Blokhin's Russian Cancer Research Center

Russian Academy of Medical Sciences

Principal Investigator, Senior Researcher, Department of Oncodermatology, MD, PhD

Carcinoma

Carcinoma, Squamous Cell

Keratosis, Actinic

Keratosis

Lichen Planus

Carcinoma, Basal Cell

Keratosis, Seborrheic

Carcinosarcoma

Mixed Tumor, Mullerian

Lentigo

Hutchinson's Melanotic Freckle

Neoplasms, Glandular and Epithelial

Neoplasms, Squamous Cell

Precancerous Conditions

Neoplasms, Basal Cell

Lichenoid Eruptions

Exanthema

Skin Diseases, Papulosquamous

Sarcoma

Neoplasms, Connective and Soft Tissue

Malignant Mixed Mullerian Tumor

Soft Tissue Sarcoma

Dermatologic Agents

Chlorhexidine

Chlorhexidine gluconate

Individuals without skin damage (melanoma, BCC, SCC, etc)

Individuals diagnosed with confirmed skin damage by Dermatologists

Two sets of measurements will be performed to each subject, either at a nevus in contrast with a nearby clear patch of skin. The duration of each measurement will last for approximately 1.5 minutes and the excel file will be directly available to researcher, allowing him/her for data storage and data visualization.

Electrical Impedence Spectroscopy DermaSense

Emmanouil Papanastasiou, Dr.

The purpose of this clinical study is to evaluate if the DermaSense prototype EIS scanner can provide medical decision support which can complement dermoscopy-based identification of the disease at time of biopsy decision.

This is a clinical study designed to evaluate if the DermaSense device can be a system of an automated analysis and classification of skin lesions aiming to provide a comprehensive, reliable and cost-effective approach to assist the Dermatologists' decision (biopsy, dermoscopy, histopathological analysis etc). The study enrollment will continue until a minimum of 180 subjects are enrolled in the study. Second Department of Dermatology, School of Medicine, Faculty of Health Sciences of the Aristotle University of Thessaloniki, at the "Papageorgiou" General Hospital will participate in this study. Dermatologists participating in the study will perform the patient and lesion assessment for biopsy as standard of care at the clinic.

EIS (electrical impedance spectroscopy) measurements will be done once per participant recommended by the Dermatologist based on their clinical interest in various areas of the skin. Two sets of measurements will be performed for each participant, either at a nevus in contrast with a nearby clear patch of skin, or at a skin damage area (melanoma, basal cell carcinoma (BCC), squamous cell carcinoma (SCC), etc) in contrast with a nearby clear patch of skin. Also, more repeated measurements may be needed to determine the validity of the measurement result. Evaluation and analysis of the measurement data will be done by the DermaSense team and will be used not only for applying appropriate statistical correlations compared to established dermatological diagnostic methods (eg dermοscopy, histopathological examinations, biopsies etc.) but also for training in artificial intelligence and machine learning methods. Finally, the participants will sign a consent form that is consistent with bioethical rules and according with EU GDPR regulation to protect their personal data.

Use of Electrical Impedance Spectroscopy (EIS) for Early Diagnosis of Skin Damage

Comparative Study of Electrical Impedance Spectroscopy (EIS) Models Against Verified Dermatological Diagnostic Data

Use of DermaSense prototype EIS scanner in detecting significant electrical impedance differences between malignant and benign skin lesions.

Use of DermaSense prototype EIS scanner in measuring Electrical Impedance Spectroscopy (EIS) at 10 different frequencies in skin of various body surfaces.

Setting DermaSense prototype EIS scanner in clinical diagnosis of skin lesions, or at least as a potential decision support tool to more accurately identify skin lesions for surgical excision and histopathologic evaluation.

Aristotle University Of Thessaloniki

Assistant Professor

Treatment will consist of four weeks of daily application of 20% BA ointment to the dysplastic nevi, after which it will be removed surgically and examined. A similar dysplastic nevi will be removed as a control. Four groups of patients will be enrolled. The first group will apply the ointment once a day, the second twice a day, the third three times a day, and the fourth four times a day.

20% betulinic acid ointment

Tapas K. Das Gupta, MD, PhD, DSc

The purpose of this study is to evaluate the safety and effectiveness of an experimental 20% betulinic acid ointment (BA ointment) as a treatment for dysplastic nevi with the potential to transform into melanoma.

Approximately 200 patients may be enrolled and screened in order to find twenty-eight (28) patients who qualify to be involved in this research at UIC.

Dysplastic melanocytic nevus (DMN) is a histopathologic term implying a disordered proliferation of melanocytes associated with discontinuous and variable cellular atypia. DMN is graded into mild, moderate, and severe based on standard histological criteria. DMN is considered to be a likely precursor for melanoma, and individuals with DMN often have multiple instances of it scattered over their trunk and extremities. For this study, only DMN where the dysplasia is either moderate or severe will be included.

Evaluation of 20% Betulinic Acid Ointment for Treatment of Dysplastic Nevi (Moderate to Severe Dysplasia)

Phase I/II Evaluation of Topical Application of 20% Betulinic Acid Ointment in the Treatment of Dysplastic Nevi With Moderate to Severe Dysplasia

The development of any systemic toxicity (Grade 1 or greater) or Grade 3 local toxicity in 3 of 7 patients at any given dose level will result in the termination of all applications at that level; furthermore, no higher frequency of cohorts will be entered in the Study. This dose level is defined as a dose-limiting toxicity, with the maximum tolerated dose (MTD) being one dose level below.

The response to the topical application of 20% betulinic acid ointment will be assessed histologically. Both the untreated control lesion and the betulinic acid treated lesion will be totally excised after four weeks (30 days) of treatment. Surgery to remove the lesions will take place between day 31 and day 37. The lesions will be processed for microscopic examination and will be examined by the Pathology Department of UIC/UIH. At the completion of the Study, all slides will be reviewed by a consultant dermato-pathologist.

Evidence of regression, fibrosis, depigmentation, nuclear atypia, and apoptosis of melanocytes will be recorded for both untreated control and betulinic acid treated lesions. If the treated lesions demonstrate a significant difference in the points mentioned above, then the data will be quantitatively tabulated and interpreted.

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization
Clinical, Laboratory, and Epidemiologic Characterization of Individuals and Families at High Risk of Melanoma	NCT00040352	Melanoma Dysplastic Nevu...		4 Weeks -	National Institutes of Health Clinical Center (CC)
Atypical MOLes and Melanoma Early Detection Study (MoleMed)	NCT04353050	Melanoma Melanoma (Skin) Moles Nevus Nevus, Blue Nevus, Pigmente... Nevus, Spitz Nevi, Spindle C... Nevi, Dysplasti... Dysplastic Nevu... Mucosal Melanom... Mucosal Melanos...	Non-invasive ad...	18 Years -	Russian Academy of Medical Sciences
Use of Electrical Impedance Spectroscopy (EIS) for Early Diagnosis of Skin Damage	NCT04688749	Melanoma (Skin) Basal Cell Carc... Squamous Cell C... Dysplastic Nevu... Lentigo Maligna Seborrheic Kera... Lichen Planus-L... Carcinosarcoma	Electrical Impe...	8 Years - 90 Years	Aristotle University Of Thessaloniki
Evaluation of 20% Betulinic Acid Ointment for Treatment of Dysplastic Nevi (Moderate to Severe Dysplasia)	NCT00346502	Dysplastic Nevu...	20% betulinic a... BA	18 Years -	University of Illinois at Chicago
Atypical MOLes and Melanoma Early Detection Study (MoleMed)	NCT04353050	Melanoma Melanoma (Skin) Moles Nevus Nevus, Blue Nevus, Pigmente... Nevus, Spitz Nevi, Spindle C... Nevi, Dysplasti... Dysplastic Nevu... Mucosal Melanom... Mucosal Melanos...	Non-invasive ad...	18 Years -	Russian Academy of Medical Sciences
Use of Electrical Impedance Spectroscopy (EIS) for Early Diagnosis of Skin Damage	NCT04688749	Melanoma (Skin) Basal Cell Carc... Squamous Cell C... Dysplastic Nevu... Lentigo Maligna Seborrheic Kera... Lichen Planus-L... Carcinosarcoma	Electrical Impe...	8 Years - 90 Years	Aristotle University Of Thessaloniki

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