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Gene Expression Patterns in a Congenital Neurocristic Hamartoma With Multiple Proliferative Nodules.
J Cutan Pathol
February 2025
Department of Pathology, British Columbia Children's and Women's Hospitals, Vancouver, British Columbia, Canada.
Article Synopsis
- Cutaneous neurocristic hamartoma (CNH) is a rare skin lesion linked to unusual neural crest cell development, often mistaken for other conditions like giant congenital nevus.
- The study investigates gene expression differences between CNH and proliferative nodules (PNs) derived from it, comparing these with giant congenital nevus and malignant melanoma.
- Key findings indicate that lower levels of the tumor suppressor gene WIF1 in PNs might contribute to the growth of these nodules, while higher expression of IGF2 and H19 in CNH and PNs points to potential abnormal gene activity involved in CNH’s development.
Malignant Cutaneous Neurocristic Hamartoma With Features of Melanoma: A Rare Entity.
Cureus
September 2024
Pathology and Laboratory Medicine, University of South Alabama College of Medicine, Mobile, USA.
Neurocristic cutaneous hamartoma (NCH) is a rare, benign neoplastic skin lesion characterized by a combination of neuroectodermal and mesodermal components. Clinically, NCH typically presents as asymptomatic, well-circumscribed, and elevated cutaneous nodules. Histopathologically, it is characterized by nests of pigmented melanocytes and varying degrees of fibrosis and collagen deposition.
View Article and Find Full Text PDFSuperficial Neurocristic EWSR1::FLI1 Fusion Tumor: A Distinctive, Clinically Indolent, S100 Protein/SOX10-Positive Neoplasm.
Mod Pathol
August 2024
Bone Tumor Reference Center at the Institute of Medical Genetics and Pathology, University Hospital and University of Basel, Basel, Switzerland; Basel Research Centre for Child Health, Basel, Switzerland.
Article Synopsis
- Identical gene fusions, like EWSR1::FLI1, can be found in different types of tumors, leading to a new classification of skin neoplasms that show similarities to Ewing sarcoma but are distinct in other aspects.
- A study examined five cases of cutaneous neoplasms with the EWSR1::FLI1 fusion, presenting key clinical and histological features, such as multinodular growth and positive markers (S100 protein/SOX10), but differing in marker expression compared to Ewing sarcoma.
- All patients underwent successful excisions with no residual disease; their follow-up indicated good health, showcasing that these unique skin tumors, while sharing a genetic fusion with Ewing
Neurocristic cutaneous hamartoma of the scalp with disseminated melanocytic nevi.
BMJ Case Rep
February 2023
Pediatrics and Child Health, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania, United Republic of
We report a newborn with neurocristic cutaneous hamartoma of the scalp. He was delivered at term via caesarean section due to a previous scar and presented at the neonatal unit on the fifth day with giant congenital nevi on the scalp and disseminated melanocytic nevi throughout the body. The MRI scan of the brain showed a defect at the occipital region with herniation of the occipital lobes and ventricles through the defect, with infratentorial brain parenchyma exhibiting normal signal return and intact cerebellum.
View Article and Find Full Text PDFNeurotropic melanoma arising from a neurocristic hamartoma.
J Cutan Pathol
March 2023
Scripps Health, San Diego, California, USA.
Neurotropic melanoma is a rare type of malignant melanoma with nerve invasion or neural differentiation. Neurocristic cutaneous hamartoma is a rare, benign tumor of the skin and superficial soft tissue that arises from aberrant migration of neural crest cells. We report a rare case of a 74-year-old man with a clinically diagnosed giant congenital nevus of the right mid-back, histopathologically confirmed to be a neurocristic cutaneous hamartoma, who developed neurotropic spindle cell melanoma within the lesion.
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