Association Of Melanoma Research Articles

Double Trouble: Association of Malignant Melanoma with Sporadic and Genetic Forms of Parkinson's Disease and Asymptomatic Carriers of Related Genes: A Brief Report.

Introduction: Previous epidemiological evidence has established the co-occurrence of malignant melanoma (MM) and Parkinson's disease (PD). Shared molecular mechanisms have been proposed to be implicated in this relationship. The aim of the present study was to assess the prevalence of MM in patients with sporadic and genetic types of PD, as well as in asymptomatic carriers of PD-related genes. Methods: Data regarding past medical history and concomitant disease of 1416 patients with PD (including 20 participants with prodromal disease who phenoconverted to PD), 275 healthy controls (HCs) and 670 asymptomatic carriers of PD-related genes were obtained from the database of the Parkinson's Progression Markers Initiative (PPMI). Focus was placed on information about a medical record of MM. We also retrieved data regarding the genetic status of selected PPMI participants with a positive MM history. Results: In total, 46 patients with PD reported a positive MM history. Concerning the genetic forms of PD, nine of these PD patients (2.47%) carried a Leucine Rich Repeat Kinase 2 (LRRK2) gene mutation (mainly the G2019S), while eight (4.49%) harbored a Glucocerebrosidase (GBA) gene mutation (mainly the N370S). No alpha-synuclein (SNCA) gene mutation was identified in patients with an MM history. The remaining 29 PD patients (3.5%) were genetically undetermined. In total, 18 asymptomatic carriers of PD-related genes had a positive medical history for MM: among them, 10 carried an LRRK2 gene mutation (2.69%) and 10 a GBA gene mutation (3.51%) (2 were dual carriers). MM history was identified for seven HCs (2.5%). Conclusions: We replicated the previously reported association between genetically undetermined PD (GU-PD) and MM. A correlation of LRRK2 mutations with the development of MM could not be verified in either symptomatic PD patients or asymptomatic carriers, implicating distinct pathogenetic mechanisms as compared to GU-PD. Importantly, despite the limited literature evidence on Gaucher disease, this study highlights for the first time the relatively high prevalence of MM among asymptomatic and symptomatic PD GBA mutation carriers, with potential clinical implications.

A Case of Metastatic Melanoma in a Female Patient with Vitiligo

Patients with metastatic melanoma occasionally develop de novo hypopigmentation, pathologically indistinguishable from Sutton's nevus and common vitiligo, respectively. The case of a 68-year-old female with vitiligo of 2 years of evolution is documented, presenting a left inguinal mass and a para-aortic lymph node conglomerate. In the left inguinal region, a ganglion with thickened cortex and liquid content was identified. The laboratory results report hemoglobin of 8.30 g/dL, leukocytes 19.12 u/L, albumin 2.2 mg/dl, DHL 1222 Ul/L, alpha-fetoprotein 2 ng/ml, Ca-125 14.30 U/ml, Ca-19.9 8.60 U/ml and carcinoembryonic antigen of 2.14 ng/ml. Upon inspection, hypochromic, bilateral, and symmetrical lesions can be seen on the back of the hands, wrists, scalp, facial region, and neck. Biopsy showing malignant metastatic melanoma is performed. Starting management with Pembrolizumab 1 mg/kg every 21 days. Currently in follow-up and adjuvant treatment. Melanoma is the most aggressive form of skin cancer. The association of malignant melanoma with de novo hypopigmentation has been found, synchronously or following the diagnosis of the tumor. In recent years, it has led to the development of monoclonal antibodies. However, its diagnosis has implications for life prognosis due to high mortality.

Acral Lentiginous melanoma arising in Brauer-Buschke-Fischer plantar keratoderma

Type I Punctuate palmoplantar keratoderma or Brauer-Buschke-Fischer keratoderma (BBFK) is a rare autosomal dominant keratinisation disorder with variable penetrance. \r\n The emergence of acral lentiginous melanoma on palmoplantar keratoderma is rarely reported. Herein, we present a case of a 53-year-old woman with a history of BBFK in both palms and soles, who developed an acral lentiginous melanoma. The clinical examination showed multiple tiny hyperkeratotic and translucent papules on both palms and soles. On the right sole, she developed an acral lentiginous melanoma over a hyperkeratoic area. This case presentation illustrates a rare association of malignant melanoma and BBFK and seeks to enhance further investigations to determine its pathophysiological mechanism.\r\n

Regressing cutaneous malignant melanoma and vitiligo‐like depigmentation

Association of malignant melanoma (MM) with various clinical forms of skin depigmentation is well‐known. We report a case highlighting the importance of careful examination of patients with skin hypomelanoses, including vitiligo and halo nevi, in order to exclude the presence of MM.A 66‐year‐old woman presented with a 6‐month history of vitiligo‐like depigmentation of the face and halo nevi. Physical examination unexpectedly revealed also the presence of a regressing MM associated with a clinically evident lymphoadenopathy. Predominant dermoscopic features of the lesion were an irregular vascular pattern and regression structures, associated with peripheral areas of irregular pigmentation without pigment network.The literature concerning the association between leukoderma and MM is also reviewed.

Olmsted Syndrome—Palmoplantar and Periorificial Keratodermas: Association with Malignant Melanoma

Background: Olmsted syndrome is a rare congenital disorder with mutilating palmoplantar keratoderma, periorificial keratotic plaques, and other variable features. Objective: We describe a 65-year-old woman with Olmsted syndrome complicated by the occurrence of a malignant melanoma inside the plantar keratoderma. To our knowledge, this is the first reported case of such an occurrence in Olmsted syndrome. The published cases of this rare disorder are reviewed. Conclusion: An association between malignant epithelial tumors and Olmsted syndrome has already been reported. The association of malignant melanoma with other types of palmoplantar keratodermas has been reported. This may suggest a predisposition to melanocytic as well as squamous cell malignancies in congenital keratodermas. Oral retinoids appear to be the most promising treatment for Olmsted syndrome and for other symptomatic keratodermas.

Olmsted Syndrome?Palmoplantar and Periorificial Keratodermas: Association with Malignant Melanoma

Olmsted syndrome is a rare congenital disorder with mutilating palmoplantar keratoderma, periorificial keratotic plaques, and other variable features. We describe a 65-year-old woman with Olmsted syndrome complicated by the occurrence of a malignant melanoma inside the plantar keratoderma. To our knowledge, this is the first reported case of such an occurrence in Olmsted syndrome. The published cases of this rare disorder are reviewed. An association between malignant epithelial tumors and Olmsted syndrome has already been reported. The association of malignant melanoma with other types of palmoplantar keratodermas has been reported. This may suggest a predisposition to melanocytic as well as squamous cell malignancies in congenital keratodermas. Oral retinoids appear to be the most promising treatment for Olmsted syndrome and for other symptomatic keratodermas.

A commentary on an association of malignant melanoma with non-ultraviolet radiation exposure

There are direct and indirect studies that suggest that non-ultraviolet radiation may be associated with the increasing mortality and incidence of malignant melanoma of the skin. Tangential and supporting evidence for these associations are critically reviewed.

Malignant melanoma and extramammary Pagetʼs disease in the same patient

Axillary Paget's disease was found in a 34-year-old man who died of metastatic malignant melanoma. The primary cutaneous malignant melanoma was diagnosed 6 years before the patient's demise and was confirmed by the presence of melanin, a positive dopa reaction, and immunohistochemical demonstration of S-100 protein in neoplastic cells. Postmortem examination revealed Paget's disease of the axillary skin in addition to widespread metastases of malignant melanoma. Paget cells were positive for periodic acid-Schiff reaction and alcian blue. They were also immunohistochemically positive for carcinoembryonic antigen, but were negative for S-100 protein. This association of malignant melanoma and Paget's disease in the same person has not, to the best of our knowledge, been described before.

Malignant Melanoma Arising With Two Halo Nevi

To the Editor.— This case is reported because of the recent awareness of the association of malignant melanoma with the halo nevus and the increasing investigative work in trying to understand the relationship. Report of a Case.— A 28-year-old blond woman was seen recently with a pink, raised tumor with a wide peripheral area of depigmentation on the middle of the upper back, a typical halo nevus that had been noticed for only a few months (Fig 1). This was removed surgically, and the histological examination proved it to be a malignant melanoma (Fig 2 through 4). The patient was then referred to a general surgeon specializing in melanomas who did a wider and deeper excision. The pathological report of the surgical specimen showed no residual melanoma. Comment.— The halo nevus is distinctive: a pigmented nevus becomes surrounded by a halo of depigmented skin, then gradually diminishes