Dataset Information

Transformation of Malignant Melanoma From Giant Nevus in Infantile Penis.

ABSTRACT: Background: Malignant melanoma is the most serious type of skin cancer, and its incidence rate increases with age. Malignant melanoma in infants has been rarely reported in the literature. Herein, we report a case of malignant transformation of a nodular lesion found in the penis of a patient with a giant congenital nevus. Case presentation: A 1-month-old male patient was admitted due to the presence of a giant congenital nevus involving the lower abdomen, bilateral inguinal areas, genitals, and left thigh and knee. Six months later, nodules measuring 1 cm in diameter protruding from the genital area were noted, and a part of the nodule was removed via elliptical excision with the patient under general anesthesia. Gross examination showed an edematous lesion similar to a neurofibroma and with unclear boundaries. Biopsy revealed a malignant melanoma, with a Breslow thickness of at least 3 mm, and absence of lymphovascular invasion; the biopsy confirmed incomplete excision. The patient was scheduled for radical resection, but reconstruction was not performed following surgical resection due to the guardian's refusal. Hence, the patient only received an adjuvant medical treatment and eventually died. Conclusion: We reported a rare case of an infant with a malignant melanoma in the penis. Congenital malignant melanoma rarely occurs in infants; however, due to its fatal consequences, follow-up should be performed to assess for malignant changes.

SUBMITTER: Lee DH

PROVIDER: S-EPMC7784403 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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Transformation of Malignant Melanoma From Giant Nevus in Infantile Penis.

Lee Dong Hwan DH Kim Min Ji MJ Lee Il Jae IJ Park Dong Ha DH

Frontiers in surgery 20201222

<b>Background:</b> Malignant melanoma is the most serious type of skin cancer, and its incidence rate increases with age. Malignant melanoma in infants has been rarely reported in the literature. Herein, we report a case of malignant transformation of a nodular lesion found in the penis of a patient with a giant congenital nevus. <b>Case presentation:</b> A 1-month-old male patient was admitted due to the presence of a giant congenital nevus involving the lower abdomen, bilateral inguinal areas, ...[more]

PMID: 33415124

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Project description:The rare benign giant cell tumour of bone (GCTB) is defined by an almost unique mutation in the H3.3 family of histone genes H3-3A or H3-3B; however, the same mutation is occasionally found in primary malignant bone tumours which share many features with the benign variant. Moreover, lung metastases can occur despite the absence of malignant histological features in either the primary or metastatic lesions. Herein we investigated the genetic events of 17 GCTBs including benign and malignant variants and the methylation profiles of 122 bone tumour samples including GCTBs. Benign GCTBs possessed few somatic alterations and no other known drivers besides the H3.3 mutation, whereas all malignant tumours harboured at least one additional driver mutation and exhibited genomic features resembling osteosarcomas, including high mutational burden, additional driver event(s), and a high degree of aneuploidy. The H3.3 mutation was found to predate the development of aneuploidy. In contrast to osteosarcomas, malignant H3.3-mutated tumours were enriched for a variety of alterations involving TERT, other than amplification, suggesting telomere dysfunction in the transformation of benign to malignant GCTB. DNA sequencing of the benign metastasising GCTB revealed no additional driver alterations; polyclonal seeding in the lung was identified, implying that the metastatic lesions represent an embolic event. Unsupervised clustering of DNA methylation profiles revealed that malignant H3.3-mutated tumours are distinct from their benign counterpart, and other bone tumours. Differential methylation analysis identified CCND1, encoding cyclin D1, as a plausible cancer driver gene in these tumours because hypermethylation of the CCND1 promoter was specific for GCTBs. We report here the genomic and methylation patterns underlying the rare clinical phenomena of benign metastasising and malignant transformation of GCTB and show how the combination of genomic and epigenomic findings could potentially distinguish benign from malignant GCTBs, thereby predicting aggressive behaviour in challenging diagnostic cases. © 2020 The Authors. The Journal of Pathology published by John Wiley & Sons, Ltd. on behalf of The Pathological Society of Great Britain and Ireland.

Dataset Information

Transformation of Malignant Melanoma From Giant Nevus in Infantile Penis.

Publications

Transformation of Malignant Melanoma From Giant Nevus in Infantile Penis.

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