OBJECTIVE

This is a case report of a 60-year-old woman with a juxtapapillary choroidal melanoma who underwent globe-sparing treatment using linear-accelerator (LINAC)-based hypofractionated stereotactic radiotherapy (FSRT).

Clinical data, ophthalmologic findings, and imaging results were obtained through retrospective chart review.

At three months and nine months post-treatment, tumor thickness decreased by 20.5% (from 13.00 mm to 10.34 mm) and 33.2% (to 8.69 mm), respectively. Partial resolution of subretinal fluid and vitreous hemorrhage was confirmed clinically and by B-scan. No metastatic spread was detected on liver ultrasound and chest radiography. Best-corrected visual acuity in the treated eye remained stable at hand motion. Radiation-induced dry eye was managed effectively with preservative-free sodium hyaluronate eye drops.

LINAC-based hypofractionated FSRT achieved marked local control and tumor regression in this case of a medium-large, juxtapapillary choroidal melanoma, while preserving the globe and the baseline vision. In regions without access to plaque brachytherapy, this technique offers a practical, cost-efficient, and multidisciplinary approach to eye-conserving therapy.

INTRODUCTION

Malignant melanoma is most commonly found on the skin and rarely occurs in the rectal region. This case illustrates that rectal melanoma can be misdiagnosed as hemorrhoids. It also aims to add knowledge to possible treatment options for rectal melanoma.

We report a case of a 77-year-old Filipino adult presenting with rectal bleeding for three weeks. He underwent sigmoidoscopy that showed thrombosed hemorrhoids; however, subsequent surgical excision biopsy histopathology and immunohistochemistry revealed features compatible with malignant melanoma (HMB45, Melan A, and Cytokeratin positive; CDX2 negative). Staging workup done, including abdominal magnetic resonance imaging (MRI) with IV contrast and chest computed tomography (CT), showed distant metastases. He was then started on pembrolizumab but follow up imaging showed recurrence of the rectal melanoma and progression of metastases. Molecular testing done revealed c KIT/ CD117 positive results, hence, treatment was shifted to imatinib.

It was seen that rectal melanoma is an aggressive disease; therefore, multidisciplinary management is crucial to yield the best possible outcome, despite its poor prognosis. Such as in this case, using immunotherapy (Pembrolizumab) and targeted therapy (Imatinib) still have inconsistent outcomes, thus, further studies should be pursued. In this patient, both pembrolizumab and imatinib post-surgery resulted to recurrence of the rectal tumor and progression of hepatic and osseous metastases.

Although melanoma only accounts for 1% of skin cancers, it is responsible for most skin cancer deaths. Glioblastoma multiforme, a high-grade astrocytoma, is the most aggressive and devastating primary brain tumor. These two diseases remain to be the biggest therapeutic challenge in both specialties of dermatology and neuro-oncology. A 53-year-old Filipino male who presented with a 2-year history of generalized dark brown and black patches on the body developed weakness and numbness of the left extremities. Biopsy and immunohistochemical staining of the skin revealed nodular melanoma with adjacent regressing melanoma. Biopsy of the intracranial mass showed glioblastoma multiforme. One month after the partial excision of the intracranial mass, the patient expired due to brain herniation. Nodular melanoma and glioblastoma multiforme may occur concomitantly in a patient. A review of the literature suggests a shared genetic predisposition. Its existence carries a poor prognosis and requires early detection to start aggressive treatment.
Melanoma ; Glioma ; Glioblastoma ; Association

Objectives: To discuss a case of primary melanoma of the palatine tonsil in a 57-year-old man presented with a dark, pigmented tonsillar mass initially managed as a case of arterio-venous malformation, and review the literature on its presentation, diagnosis, management and outcomes. : Methods Design: Case Report Setting: Tertiary Government Training Hospital Patient: One Results: A 57-year-old man presented with a pigmented, bluish-black mass (7.2 cm) on the right tonsillar area with dysphagia and odynophagia. A CT scan interpretation considered large tonsillar malignancy, right with infiltrations of the soft palate, lingual tonsils and pre-epiglottic space. The initial impression was an arteriovenous malformation and preoperative arterial embolization was followed by a tonsillectomy. The final biopsy result was mucosal melanoma. Refusing further treatment, he expired nine months later in the emergency room, after presenting with decreasing sensorium and desaturations, jaundice and abdominal distension. Conclusion To the best of our knowledge, this is the first reported case of tonsillar melanoma in the Philippines. Primary tonsillar melanoma is rare but its diagnosis is still possible (although it is usually diagnosed in advanced stages). Despite improvement in surgical techniques and adjuvant therapies, its prognosis remains poor. Regular oral cavity screening may help in early detection.
Palatine Tonsil ; Melanoma

This is a case of malignant melanoma with rhabdomyosarcomatous differentiation presenting as a conjunctival mass in a 50-year-old male. Melanoma cells were seen to react with desmin, myogenin and vimentin, indicating rhabdomyosarcomatous differentiation. This condition is very rare, with less than twenty cases reported in the literature, which contributes to the limitations in molecular characterization and standard treatment protocols for this entity. This condition has an aggressive course with a poor prognosis.

A 53-year-old female presented with a 2-year history of an enlarging hyperpigmented plaque on her left foot, which was later accompanied by yellowish, foul-smelling discharge, tenderness, and pain (5/10). A biopsy in Thailand confirmed acral lentiginous melanoma. Following surgical site dehiscence and lesion recurrence, she underwent further examination at Southern Philippines Medical Center. A skin punch biopsy revealed atypical melanocytes, leading to Mohs micrographic surgery. After confirming negative tumor margins, a successful skin punch graft was performed, resulting in full wound healing with no recurrence.

Acral lentiginous melanoma, though rare, is most common in Asians and often presents in areas like the soles, palms, and subungual regions. Mohs micrographic surgery, offering precise margin control, ensures cure rates comparable to traditional excision while sparing more tissue, crucial for areas like the foot. Skin punch grafting, in this case, provided faster wound healing and a high graft survival rate, highlighting its effectiveness in dermatologic surgery.

In conclusion, acral lentiginous melanoma’s subtle presentation often delays diagnosis, but combining Mohs surgery with skin punch grafting offers significant therapeutic benefits—ensuring tissue preservation, faster recovery, and improved graft outcomes.

Humans ; Melanoma/therapy* ; Immunotherapy ; Syndrome ; Skin Neoplasms

OBJECTIVES: Malignant melanoma is a highly malignant and heterogeneous skin cancer. Although immunotherapy has improved survival rates, the inhibitory effect of tumor microenvironment has weakened its efficacy. To improve survival and treatment strategies, we need to develop immune-related prognostic models. Based on the analysis of the Cancer Genome Atlas (TCGA), Gene Expression Omnibus (GEO), and Sequence Read Archive (SRA) database, this study aims to establish an immune-related prognosis prediction model, and to evaluate the tumor immune microenvironment by risk score to guide immunotherapy. METHODS: Skin cutaneous melanoma (SKCM) transcriptome sequencing data and corresponding clinical information were obtained from the TCGA database, differentially expressed genes were analyzed, and prognostic models were developed using univariate Cox regression, the LASSO method, and stepwise regression. Differentially expressed genes in prognostic models confirmed by real-time reverse transcription PCR (real-time RT-PCR) and Western blotting. Survival analysis was performed by using the Kaplan-Meier method, and the effect of the model was evaluated by time-dependent receiver operating characteristic curve as well as multivariate Cox regression, and the prognostic model was validated by 2 GEO melanoma datasets. Furthermore, correlations between risk score and immune cell infiltration, Estimation of STromal and Immune cells in MAlignant Tumor tissues using Expression data (ESTIMATE) score, immune checkpoint mRNA expression levels, tumor immune cycle, or tumor immune micro-environmental pathways were analyzed. Finally, we performed association analysis for risk score and the efficacy of immunotherapy. RESULTS: We identified 4 genes that were differentially expressed in TCGA-SKCM datasets, which were mainly associated with the tumor immune microenvironment. A prognostic model was also established based on 4 genes. Among 4 genes, the mRNA and protein levels of killer cell lectin like receptor D1 (KLRD1), leukemia inhibitory factor (LIF), and cellular retinoic acid binding protein 2 (CRABP2) genes in melanoma tissues differed significantly from those in normal skin (all P<0.01). The prognostic model was a good predictor of prognosis for patients with SKCM. The patients with high-risk scores had significantly shorter overall survival than those with low-risk scores, and consistent results were achieved in the training cohort and multiple validation cohorts (P<0.001). The risk score was strongly associated with immune cell infiltration, ESTIMATE score, immune checkpoint mRNA expression levels, tumor immune cycle, and tumor immune microenvironmental pathways (P<0.001). The correlation analysis showed that patients with the high-risk scores were in an inhibitory immune microenvironment based on the prognostic model (P<0.01). CONCLUSIONS The immune-related SKCM prognostic model constructed in this study can effectively predict the prognosis of SKCM patients. Considering its close correlation to the tumor immune microenvironment, the model has some reference value for clinical immunotherapy of SKCM.
Humans ; Melanoma/genetics* ; Skin Neoplasms/genetics* ; Tumor Microenvironment ; Prognosis

Mucosal melanomas are malignant tumors from melanocytes found in epithelium of nasal, oral, reproductive and gastrointestinal mucosa of the body.1,2 As early as 1869, cases of mucosal melanomas have been described as rare and aggressive but insidious in nature.3 The mean age of diagnosis in some studies is 60 - 70 years old,1-7 with early detection proving to be a challenge due to non-specific early stage symptoms.1,4 They generally have poor prognosis, high tumor recurrence and high prevalence of tumor metastasis in around 23 - 50%.4,5 Treatment may involve surgical excision, radiotherapy or chemotherapy.6 However, adequate and appropriate treatment can only be initiated once the diagnosis and staging are established through proper imaging and histopathologic support.4 We present one such case.
malignant melanoma

Humans ; RNA-Binding Protein EWS/genetics* ; Melanoma/genetics* ; Oncogene Proteins, Fusion/genetics*