Case Of Primary Melanoma Research Articles

Telomerase Expression in a Series of Melanocytic Neoplasms

Background and objectivesTelomerase is an enzyme involved in maintaining the length of telomeres and cell senescence. Numerous studies have shown that in more than 90% of malignant tumors telomerase activity is detected. Material and methodsRetrospective observational study in a series of 85 cases of primary melanomas, 12 metastatic melanomas, and 22 melanocytic nevi. We used the monoclonal antibody hTERT (human telomerase reverse transcriptase, Rockland) to assess telomerase activity. The SPSS software package was used to analyze data. ResultsTelomerase expression was present in all the melanocytic neoplasms analyzed. Expression was heterogenous and moderate or high in the melanomas. In contrast, expression was homogeneous and lower in the nevi. Heterogeneous expression was associated with rapid melanoma growth (P=.028), a Breslow thickness of more than 4mm (P=.004), mitosis (P=.032), and mutations in the TERT gene (P=.002). Activity was less intense in intradermal nevi, and more intense in compound and dysplastic nevi (P=.054). ConclusionsTelomerase expression is found in all melanocytic neoplasms but is higher in melanomas than in nevi. A heterogeneous pattern of expression in melanomas is associated with more aggressive tumors.

A case of long-term survival of primary malignant melanoma of the esophagus after surgery and a review of the literature

We here reported a case of primary malignant melanoma of the esophagus (PMME) which was performed surgery 8 years ago. The patient is still alive now. PMME is a very rare disease with very dreadful prognosis. The only way to definitely diagnosis is pathology while clinical symptoms or image examinations are useful for clinical staging. Surgery is standard, and only treatment that can offer the opportunity for long-term survival.

Primary Malignant Melanoma of Brainstem Medulla Mimicking as Cavernoma – Case Report

Aim of this case report is to present a rare case of primary malignant melanoma of brain stem at the region of medulla oblongata mimicking as cavernoma. 40-year-old male presented with vertigo, headache, dizziness for 1 month. MRI showed pear shaped T1 hyperintense lesion at medulla oblongata and predominantly hypointense on T2 with focal area of hemorrhage. Lesion showed diffuse enhancement on postcontrast images. On plain CT lesion was Hyperdense. It was initially reported as Cavernoma. Surgical excision of lesion was done with per-op findings of solid, dark maroon colored lesion with hemorrhage. Histopathology showed neoplastic lesion with abundant melanin pigment deposition. The lesion was finally diagnosed as Malignant neoplasm with features favoring Malignant Melanoma.

Cross-species genomic landscape comparison of human mucosal melanoma with canine oral and equine melanoma

Mucosal melanoma is a rare and poorly characterized subtype of human melanoma. Here we perform a cross-species analysis by sequencing tumor-germline pairs from 46 primary human muscosal, 65 primary canine oral and 28 primary equine melanoma cases from mucosal sites. Analysis of these data reveals recurrently mutated driver genes shared between species such as NRAS, FAT4, PTPRJ, TP53 and PTEN, and pathogenic germline alleles of BRCA1, BRCA2 and TP53. We identify a UV mutation signature in a small number of samples, including human cases from the lip and nasal mucosa. A cross-species comparative analysis of recurrent copy number alterations identifies several candidate drivers including MDM2, B2M, KNSTRN and BUB1B. Comparison of somatic mutations in recurrences and metastases to those in the primary tumor suggests pervasive intra-tumor heterogeneity. Collectively, these studies suggest a convergence of some genetic changes in mucosal melanomas between species but also distinctly different paths to tumorigenesis.

Primary amelanotic malignant melanoma of the esophagus: a case report

BackgroundPrimary amelanotic malignant melanoma of esophagus, which is a subtype of primary malignant melanoma of the esophagus (PMME), is a very rare disease with a poor prognosis. We herein report a case of the amelanotic type of PMME.Case presentationAn 86-year-old woman was admitted to our hospital with symptoms of dysphagia. An endoscopic examination and constructed radiography revealed an elevated and semipedunculated lesion with an ulcer in the lower thoracic esophagus accompanied by another submucosal lesion of the esophagus. She was diagnosed with esophageal squamous cell carcinoma by a preoperative endoscopic biopsy. We performed thoracoscopy- and laparoscopy-assisted subtotal esophagectomy with lymphadenectomy. Based on the surgical specimens, although there were no melanocytes, we made a diagnosis of a malignant melanoma immunohistochemically; the tumor cells were positive for S-100 protein and HMB45 focally and partially for Melan-A.ConclusionWe experienced a case of primary amelanotic malignant melanoma, and the patient has remained disease-free for 1 year since the surgery. Since the diagnosis of amelanotic type of PMME is difficult, it should be made by the combination of a morphological examination, pathological examination, and immunohistochemistry.

A Case of Primary Malignant Melanoma of Ovary

A Case of Primary Malignant Melanoma of Ovary

Primary Malignant Melanoma of Vagina: A Rare Mucosal Melanoma

Primary vaginal malignant melanoma is a rare malignancy. Post menopausal women are most commonly affected. It accounts for 0.3–0.8% of all malignant melanoma and less than 3% of all vaginal malignancies. It arises from melanocytes present in the basal layer of epithelium. These melanocytes migrates from neural crest to mucosa. We present a case of primary vaginal malignant melanoma with history of discharge. On examination a mass in upper part of vagina was seen.

Genetic Profiling of Primary Orbital Melanoma: An Analysis of 6 Cases with Clinicopathologic Correlation

To analyze the genetic profile of 6 cases of primary orbital melanoma with clinicopathologic correlation. Retrospective noninterventional study to analyze the genetic profile of 6 cases of primary orbital melanoma and to correlate the genetic findings with prognosis and clinicopathologic features. Inclusion criteria were patients with primary orbital melanoma with no evidence of primary eyelid skin, conjunctival, uveal, or remote melanoma at extraocular sites. The study involved 6 primary orbital melanomas from 6 patients. Four patients were exenterated and 2 had incisional biopsies performed. Clinical notes and radiologic records were assessed to ascertain clinical tumor behavior. Sections were stained with hematoxylin-eosin and exposed to immunohistochemistry for S100, MelA, HMB45, Sox10, and BAP1. Melanoma DNA was exposed to array comparative genomic hybridization to assess gross chromosomal copy number changes. Point mutation assessment and Sanger sequencing were performed for GNAQ, GNA11, BRAF, NRAS, pTERT, SF3B1, and EIF1AX. These were the presence of gross chromosomal copy number changes and the presence of mutations in GNAQ, GNA11, BRAF, NRAS, pTERT, SF3B1, and EIF1AX; the presence of metastases and time period between diagnosis and death from melanoma; and correlation between the tumor genetic profile and the clinical behavior of the tumor. One of the 6 cases was clinically associated with oculodermal melanocytosis. Of the 6 patients, 3 died of melanoma metastases and 1 of unrelated causes; 2 remain alive at last review. Three of the 6 cases were histologically associated with a benign precursor lesion. All melanomas expressed S100, MelA, HMB45, and Sox10. One patient showed loss of BAP1 nuclear staining. The most frequent chromosomal gains across the 6 cases, in order of frequency, were 6p, 8q, 17q, 6q, and 20p. The most frequently lost regions were 1p, 9p, 16q, and 17p. One patient showed monsomy 3 and gain of 8q (and showed the BAP1 loss). Mutations were found in GNAQ (1 case), GNA11 (1 case), SF3B1 (2 cases), NRAS (2 cases), and pTERT (2 cases). The data point to 2 genetic groups for primary orbital conjunctiva melanoma-like and a uveal melanoma-like group. A larger study would help confirm this suggestion.

Estudio de la expresión de telomerasa en una serie de neoplasias melanocíticas

Background and objectivesTelomerase is an enzyme involved in maintaining the length of telomeres and cell senescence. Numerous studies have shown that in more than 90% of malignant tumors telomerase activity is detected. Material and methodsRetrospective observational study in a series of 85 cases of primary melanomas, 12 metastatic melanomas, and 22 melanocytic nevi. We used the monoclonal antibody hTERT (human telomerase reverse transcriptase, Rockland) to assess telomerase activity. The SPSS software package was used to analyze data. ResultsTelomerase expression was present in all the melanocytic neoplasms analyzed. Expression was heterogenous and moderate or high in the melanomas. In contrast, expression was homogeneous and lower in the nevi. Heterogeneous expression was associated with rapid melanoma growth (P=.028), a Breslow thickness of more than 4 mm (P=.004), mitosis (P=.032), and mutations in the TERT gene (P=.002). Activity was less intense in intradermal nevi, and more intense in compound and dysplastic nevi (P=.054). ConclusionsTelomerase expression is found in all melanocytic neoplasms but is higher in melanomas than in nevi. A heterogeneous pattern of expression in melanomas is associated with more aggressive tumors.

Primary malignant melanoma of the duodenum: a rare case report

Malignant melanoma especially primary melanoma is uncommon in the gastrointestinal (GI) tract. GI melanomas are usually metastatic from skin melanoma. Anorectal region and small bowel are the most common sites of primary and metastatic GI melanoma respectively. Various theories have been put forward to explain the origin of Primary Melanoma of Small intestine. Melanomas of the GI tract can produce range of symptoms based on their location and size. Surgery is the main stay of treatment for localized disease. We reported a case of primary duodenal melanoma which was managed by surgically.

Treatment of primary nonmetastatic melanoma at high-volume academic facilities is associated with improved long-term patient survival

Previous studies of cancer care have demonstrated improved long-term patient outcomes for those treated at high-volume centers. The influence of treatment center characteristics on outcomes for primary nonmetastatic melanoma is not currently established. We aimed to investigate the association of cancer treatment center case volume and academic affiliation with long-term patient survival for cases of primary nonmetastatic melanoma. Cases of melanoma diagnosed in US adults from 2004 to 2014 and included in the National Cancer Database were identified. Hospitals were grouped by yearly case-volume quartile: bottom quartile, 2 middle quartiles, and top quartile. Facility case volume was significantly associated with long-term patient survival (P<.0001). The 5-year survival rates were 76.8%, 81.9%, and 86.4% for patients treated at institutions in the bottom, middle, and top quartiles of case volume, respectively. On multivariate analysis, treatment at centers in both middle quartiles (hazard ratio, 0.834; 95% confidence interval, 0.778-0.895) and in the top quartile (hazard ratio, 0.691; 95% confidence interval, 0.644-0.741) of case volume was associated with improved survival relative to that of patients treated at hospitals in the bottom quartile of case volume. Academic affiliation was associated with improved outcomes for top-quartile- but not middle-quartile-volume facilities. Disease-specific survival was not available. Treatment at a high-volume facility is associated with improved long-term patient survival for melanoma. High-volume academic centers have improved patient outcomes compared with other high-volume centers.

Clinically amelanotic or hypomelanotic melanoma: Anatomic distribution, risk factors, and survival

The recognition and diagnosis of clinically amelanotic or hypomelanotic melanoma is a challenge. This study aimed to examine the anatomic distribution and risk factors associated with clinically amelanotic or hypomelanotic melanoma and compare the survival of patients with clinically amelanotic or hypomelanotic melanoma with that of patients with pigmented melanoma. A prospective cohort study of all cases of primary invasive melanoma managed at a tertiary referral center was performed. There were a total of 3913 invasive melanomas, and 384 (9.8%) were clinically amelanotic or hypomelanotic. Skin phototype I; red as well as blonde hair color; actinic keratoses; nodular, desmoplastic, and lentigo maligna subtype; increased Breslow thickness; and mitoses were independently associated with amelanotic or hypomelanotic melanoma (P<.05). After adjustment for subtype and thickness, the face, ears, lateral aspect of the neck, upper portion of the arm, posterior aspect of the forearm, dorsal aspect of the hand, and anterior aspect of the lower portion of the leg were associated with increased odds of amelanotic or hypomelanotic melanoma when compared with the upper portion of the back (P<.05). Mortality risk from melanoma appeared greater for amelanotic or hypomelanotic melanoma than for pigmented melanoma (hazard ratio, 1.5; 95% confidence interval, 1.1-2.1) but was similar once Breslow thickness was taken into account. Single tertiary referral center. Although clinically amelanotic or hypomelanotic melanoma can occur on all body sites, it is more common on chronically sun-exposed areas. Clinicians should have an increased index of suspicion in patients with a sun-sensitive skin phenotype, red hair, and associated actinic keratoses.

A Resected Case of Primary Malignant Melanoma of the Esophagus—Early Detection of Recurrence by FDG-PET/CT

Primary malignant melanoma of the esophagus (PMME) is a rare, aggressive, therapy-resistant malignant tumor arising from esophageal mucosal melanocytes. It has been reported that fluorodeoxyglucose-positron emission tomography/computed tomography (FDG-PET/CT) has a clinical impact on PMME diagnosis; however, it remains unclear whether postoperative surveillance using FDG-PET/CT is useful for PMME patients. In this case study, FDG-PET/CT detected the recurrent tumors in their early stage after a curative resection of PMME. We report on a case of a 67-year-old Japanese male admitted to our hospital for the evaluation of polypoid tumors of the esophagogastric junction, which were diagnosed as PMME. He was treated with a curative resection by esophagectomy and 6 cycles of adjuvant chemotherapy of DAV (dacarbazine, nimustine, and vincristine). However, the PMME recurred 26 months after the surgery when surveillance FDG-PET/CT detected the recurrent tumors in their early stage. FDG-PET/CT may be useful to detect recurrence in the postoperative surveillance phase for PMME patients.

PS02.192: TWO CASES OF PRIMARY MALIGNANT MELANOMA OF ESOPHAGUS TREATED WITH SUBTOTAL ESOPHAGECTOMY

Abstract Background Malignant melanoma of the primary esophagus is rare, in general it has high malignancy and poor prognosis. We report two cases of early-stage primary malignant melanoma of esophagus (PMME) underwent subtotal esophagectomy. Methods Case presentation Results [Case 1]A 66-year-old man was pointed out a black legion on the lower esophagus by upper gastrointestinal endoscope for screening purposes. The lesion was diagnosed as malignant melanoma by biopsy. In addition, another black lesion was also found in the pharynx, but there was no malignant cell. Other examinations did not reveal any findings of lymph node metastasis and distant metastasis. We diagnosed PMME (T1aN0M0 Stage 0) and performed surgical resection. Pathologically it was pT1a (LPM), pN0. There is no recurrence, and it is under observation. [Case 2] A 51-year-old woman was conducted upper gastrointestinal endoscopy for the purpose of scarring epigastric pain, and a black lesion was pointed out in lower esophagus. Surgical resection was performed with diagnosis of PMME (T1bN0M0 Stage I). The pathological stage was pT1a (MM), pN0. Conclusion The 5 year survival rate of malignant melanoma of primary esophagus is poor with about 30 to 35%, and especially in cases with lymph node metastasis, the survival rate further decreases. The both cases were discovered accidentally by endoscopic examination, leading to early diagnosis and early treatment. Therefore, long survival is expected. There is also a report that melanosis is associated with melanoma, so case 1 requires careful follow-up observation. Disclosure All authors have declared no conflicts of interest.

Frequent PD-L1 Expression in Malignant Melanomas of the Vulva.

Blockade of immune checkpoint pathways such as the programmed cell death protein 1 pathway (PD-1/PD-L1) is an emerging approach in the treatment of solid tumors. In malignant melanoma, the efficiacy of antibodies against PD-L1 has been shown to be associated with PD-L1 protein expression. To evaluate whether this approach may be of use in the rare cases of primary melanoma of the vulva, we have evaluated a series of 13 cases for PD-L1 expression as well as additional molecular alterations of KIT, NRAS, KRAS, and BRAF. PD-L1 expression was detected in 69% of cases and was not associated with any other molecular alteration, tumor stage or morphology. In conclusion, targeting PD-L1 by selective antibodies may be of benefit in the treatment of these uncommon tumors.

A case of primary dermal melanoma: A diagnosis of exclusion

A case of primary dermal melanoma: A diagnosis of exclusion

A Fatal Case of Primary Anal Melanoma in a Patient with Diagnosed Haemorrhoids

A patient review revealed a history of recent occasional PR bleeding typically manifesting as spotting on toilet paper often accompanied by constipation. He had known diverticular disease, haemorrhoids and a previous gastric ulcer. He was also on rivaroxaban for atrial fibrillation and had a 30 pack years history of smoking cigarettes. He had never had a colonoscopy.

Primary melanoma of the testis: myth.

We read with interest the results of the retrospective study by Hadjinicolaou et al . (1) which described a case of primary small bowel malignant melanoma (SBM) in a 60-year-old man with review of the literature. The authors conclude that primary SBM is a rare entity, affect more frequently the men, with debatable pathophysiology.

Multifocal primary melanoma of the cervical spinal cord successfully treated by tumorectomy: a case report.

Multifocal primary melanoma of the spine is extremely rare. Here, we report a case of multifocal primary melanoma of the cervical spinal cord. A 39-year-old man presented with a 1-year history of numbness of the upper extremities and back. Magnetic resonance imaging of the cervical spine suggested multifocal intradural extramedullary tumors at levels C2 and C4-C5. A diagnostic biopsy revealed a pathological diagnosis of malignant melanoma. Tumorectomy was then performed. The numbness in the patient's upper extremities improved, and he was discharged. As of 2 years after surgery, no signs of local or systemic recurrence have been noted. Primary melanoma of the spinal cord usually carries a poor prognosis. However, in this case, the outcome following tumorectomy has been highly favorable. We speculate that this is because the MIB-1 labeling index of the tumors was less than 1%.

Overexpression of mRNA-decapping enzyme 1a predicts disease-specific survival in malignant melanoma.

Our previous study identified that rs11551405 A allele located at the 3' UTR of mRNA-decapping enzyme 1a (DCP1A) was associated with an increased risk for malignant melanoma (MM). The aim of this study was to investigate whether that association is manifested at the DCP1A expression and whether an altered DCP1A expression can predict disease-specific survival (DSS) of MM patients. The DCP1A expression in specimens of 56 cases of primary MM (23 cases at TNM stage I-II and 33 cases at TNM stage III-IV) and 43 cases of benign nevi (BN) was measured by quantitative RT-PCR (qRT-PCR), immunohistochemistry, and western blotting. The levels of DCP1A expression and the clinical characteristics of the patients were recorded and compared, along with the DSS within the 3 years of follow-up. The average relative mRNA level of DCP1A was significantly (P=0.002) higher in the MM tissues (0.159±0.007) than that shown in the BN tissues (0.122±0.009). The DCP1A immunohistochemistry scores of MM samples (5.55±2.56) were significantly (P<0.001) higher than those of the BN samples (3.58±3.66). Tissue protein levels of DCP1A in MM (0.378±0.021) were much (P<0.05) higher than those in BN tissues (0.265±0.017). Higher DCP1A expression was significantly correlated with shorter DSS time in patients with MM (P<0.05). The multivariate Cox regression analysis revealed that DCP1A expression was an independent prognostic factor for DSS (hazard ratio=1.648, P=0.021). Elevation of DCP1A expression may be an epigenetic contributing factor for oncogenesis of MM, and high DCP1A level may predict an unfavorable prognosis for MM.