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Neoplasia (New York, N.Y.) Sep 2023Cutaneous melanoma is the deadliest form of skin neoplasm and its high mortality rates could be averted by early accurate detection. While the detection of melanoma is...
Cutaneous melanoma is the deadliest form of skin neoplasm and its high mortality rates could be averted by early accurate detection. While the detection of melanoma is currently reliant upon melanin visualisation, research into melanosome biogenesis, as a key driver of pathogenesis, has not yielded technology that can reliably distinguish between atypical benign, amelanotic and melanotic lesions. The endosomal-lysosomal system has important regulatory roles in cancer cell biology, including a specific functional role in melanosome biogenesis. Herein, the involvement of the endosomal-lysosomal system in melanoma was examined by pooled secondary analysis of existing gene expression datasets. A set of differentially expressed endosomal-lysosomal genes was identified in melanoma, which were interconnected by biological function. To illustrate the protein expression of the dysregulated genes, immunohistochemistry was performed on samples from patients with cutaneous melanoma to reveal candidate markers. This study demonstrated the dysregulation of Syntenin-1, Sortilin and Rab25 may provide a differentiating feature between cutaneous melanoma and squamous cell carcinoma, while IGF2R may indicate malignant propensity in these skin cancers.
Topics: Humans; Melanoma; Skin Neoplasms; Carcinoma, Squamous Cell; Lysosomes; rab GTP-Binding Proteins; Melanoma, Cutaneous Malignant
PubMed: 37562257
DOI: 10.1016/j.neo.2023.100924 -
Dermatology Practical & Conceptual Jul 2023Nail diseases are often diagnosed late with a potential prognostic and functional impact. This could be partly due to knowledge gaps among primary care physicians (PCPs).
INTRODUCTION
Nail diseases are often diagnosed late with a potential prognostic and functional impact. This could be partly due to knowledge gaps among primary care physicians (PCPs).
OBJECTIVES
To evaluate the knowledge about diagnosis and management of ten common/important nail conditions in a population of French PCPs and its improvement after a 31-minute online training session.
METHODS
We submitted 10 pre-test and post-test clinical cases and an educative online course on the diagnosis and the management of nail diseases to 138 volunteer PCPs; 73 completed the whole training path.
RESULTS
Compared to pre-test, more PCPs in the post-test required an urgent second opinion to dermatologist for pigmented melanoma (100% versus 80.3%; P <0.05) and use of inappropriate/dangerous systemic treatment for trauma-induced nail changes was reduced after the training program (0% versus 6.8%; P <0.05). A lack of knowledge remained after training for amelanotic melanoma with an increase of mycological/bacteriological tests (9.6% versus 0%; P <0.05).
CONCLUSIONS
Management of nail diseases by our panel of PCPs was suboptimal and was improved after a short online training.
PubMed: 37557138
DOI: 10.5826/dpc.1303a170 -
Acta Medica Indonesiana Apr 2023Diagnosis of nodular red lesions is challenging. The differential diagnosis includes dermal nevus, angioma, pyogenic granuloma, amelanotic melanoma, eccrine poroma,...
Diagnosis of nodular red lesions is challenging. The differential diagnosis includes dermal nevus, angioma, pyogenic granuloma, amelanotic melanoma, eccrine poroma, Kaposi's sarcoma, skin malignancy or metastasis. Erythema nodosum is one of the common consideration of the red skin nodules, however fully work up should be done to find the right diagnosis.A 60 years old female admitted to our hospital due to pain dark reddish skin nodules since one month. She had continuously high grade fever of 39 Celsius accompanied by arthralgia and fatigue since two months prior to admission and she lost 6 kg of weight in 2 months. On admission, physical examination revealed slight fever, pale conjunctiva, mild hepatosplenomegaly, tender dark red nodules 0.3 to 2 cm, firm edge, at her cheek, abdominal area and both lower extremities. No lymph nodes enlargement was noticed. Her laboratory test showed haemoglobin 9,1 g/dl, WBC 3,040/mL, PLT 149,000/mL, SGOT 48 U/L, SGPT 43 U/L, urea 12.5 mg/dL, creatinine 0.67 mg/dL. She was found to be non-reactive for HBsAg, HCV, and HIV antigens. Urine routine and microscopic examination was unremarkable.Her histopathology of left foot nodule biopsy revealed cutaneous lymphoma. The immunohistochemical (IHC) stain of CD45, CD20, and CD10 were positive, Ki67 were also positive with >70% tumor cells, while CD3,CD56, CD30, and Granzyme were negative. Her final diagnosed was Cutaneous Diffuse large B cell lymphoma.Primary cutaneous lymphomas of B-cells occur less frequently than primary cutaneous T-cells lymphomas. Primary extra-nodal diffuse large B-Cell lymphoma (DLBCL) can be seen in up to 40% of cases. However skin involvement is less common and in a large cohort of DLBCL cases, skin involvement at presentation was seen only in 3.3% of cases.It characterized by few lesions, in general showing nodules or infiltrations of relatively fast growth and have no itching. The diagnosis is made by the immunohistochemical findings, clinicopathological correlation, and molecular pathology. The lymphomas have different clinical behaviours despite being identical in morphological appearance. The primary lymphomas presents with local recurrence in up to 68% of the cases and with rare extra-cutaneous dissemination, with an average rate of 5-year survival varying from 89 to 96%. Cutaneous lymphoma should be always become one of considered diagnosed of skin red nodules even it is rare.
Topics: Humans; Female; Middle Aged; Skin Neoplasms; Skin; Melanoma; Diagnosis, Differential
PubMed: 37524604
DOI: No ID Found -
Graefe's Archive For Clinical and... Apr 2024Circumscribed choroidal hemangioma is a rare vascular hamartoma of the choroid, presenting as a red-orange mass at the posterior pole on fundoscopic examination. Despite... (Review)
Review
Circumscribed choroidal hemangioma is a rare vascular hamartoma of the choroid, presenting as a red-orange mass at the posterior pole on fundoscopic examination. Despite its benign origin, associated complications such as subretinal fluid, serous retinal detachment, retinoschisis and neovascular glaucoma may lead to serious visual impairment in more than half patients. Because of its similarity to amelanotic choroidal melanoma and choroidal metastasis, differential diagnosis is still challenging for specialists. Multimodal imaging such as ultrasonography, fluorescein angiography, indocyanine green angiography, optical coherence tomography, and optical coherence tomography angiography guides the clinician to the correct diagnosis and the proper follow-up. Treatment is indicated in symptomatic cases in order to resolve exudation and improve visual acuity. Treatment options include photocoagulation, transpupillary thermotherapy, radiation therapy, photodynamic therapy and anti-vascular endothelial growth factor therapy. Currently, photodynamic therapy is the treatment of choice due to its effectiveness and safety. The purpose of this review is to describe the latest knowledge in the etiopathogenesis of the circumscribed choroidal hemangioma, the most recent multimodal imaging findings, and the available treatment options.
Topics: Humans; Hemangioma; Choroid Neoplasms; Photochemotherapy; Choroid; Fluorescein Angiography; Tomography, Optical Coherence
PubMed: 37505277
DOI: 10.1007/s00417-023-06179-x -
Middle East African Journal of... 2022Anterior scleritis is rarely diagnosed with a peripheral amelanotic subretinal mass. We reported a rare case of a 31-year-old woman who was referred for suspected left...
Anterior scleritis is rarely diagnosed with a peripheral amelanotic subretinal mass. We reported a rare case of a 31-year-old woman who was referred for suspected left eye choroidal melanoma. The patient had granulomatosis with polyangiitis with a history of treated left eye necrotizing anterior scleritis. Her left eye examination revealed 20/60 vision, superotemporal diffuse scleral injection, and thinning. Dilated fundus examination of the left eye showed a large peripheral amelanotic subretinal mass below the area of anterior scleritis, optic disc hyperemia, and subretinal fluid. The patient was successfully treated with intravenous methylprednisolone, rituximab infusions, and oral methotrexate. Two months after treatment, her vision improved to 20/20, with inactive anterior scleritis and a significant reduction in the subretinal mass with complete resolution of optic disc hyperemia and subretinal fluid. High index of suspicion of this atypical presentation of anterior scleritis is important to avoid aggressive modalities of treatment.
Topics: Female; Humans; Adult; Granulomatosis with Polyangiitis; Scleritis; Hyperemia; Methylprednisolone; Glucocorticoids
PubMed: 37408726
DOI: 10.4103/meajo.meajo_180_22 -
Case Reports in Gastroenterology 2023Malignant melanoma of the rectum is an exceedingly rare type of cancer with an aggressive presentation, comprising up to 4% of all anorectal cancers. Presentation of...
Malignant melanoma of the rectum is an exceedingly rare type of cancer with an aggressive presentation, comprising up to 4% of all anorectal cancers. Presentation of this cancer tends to occur in individuals in their late 80s, with nonspecific symptoms such as anal pain or rectal bleeding. Diagnosing rectal melanoma, especially in early stages, is difficult due to its amelanotic presentation and lack of pigmentation, which results in poor remission rates and prognosis. Furthermore, surgical treatment is difficult as these types of malignant melanomas tend to spread along submucosal planes; thus, complete resections are impractical, especially if caught later. In this case report, we present the radiological and pathological features as seen in a 76-year-old man diagnosed with rectal melanoma. Based on his presentation of a heterogeneous bulky anorectal mass with extensive local invasion, initial impressions were colorectal carcinoma. However, surgical pathology found the mass to be a c-KIT+ melanoma, with positive SOX10, Melan-A, HMB-45, and CD117 biomarkers. While the patient was treated with imatinib, the melanoma was too widespread and aggressive, leading to progression and ultimately death.
PubMed: 37383983
DOI: 10.1159/000529434 -
Cells Jun 2023High mortality, aggressiveness, and the relatively low effectiveness of therapy make melanoma the most dangerous of skin cancers. Previously published studies presented...
The Assessment of Anti-Melanoma Potential of Tigecycline-Cellular and Molecular Studies of Cell Proliferation, Apoptosis and Autophagy on Amelanotic and Melanotic Melanoma Cells.
High mortality, aggressiveness, and the relatively low effectiveness of therapy make melanoma the most dangerous of skin cancers. Previously published studies presented the promising therapeutic potential of minocycline, doxycycline, and chlortetracycline on melanoma cells. This study aimed to assess the cytotoxicity of tigecycline, a third-generation tetracycline, on melanotic (COLO 829) and amelanotic (A375) melanoma cell lines. The obtained results showed that tigecycline, proportionally to the concentration and incubation time, efficiently inhibited proliferation of both types of melanoma cells. The effect was accompanied by the dysregulation of the cell cycle, the depolarization of the mitochondrial membrane, and a decrease in the reduced thiols and the levels of MITF and p44/42 MAPK. However, the ability to induce apoptosis was only found in COLO 829 melanoma cells. A375 cells appeared to be more resistant to the treatment with tigecycline. The drug did not induce apoptosis but caused an increase in LC3A/B protein levels-an autophagy marker. The observed differences in drug action on the tested cell lines also involved an increase in p21 and p16 protein levels in melanotic melanoma, which was related to cell cycle arrest in the G1/G0 phase. The greater sensitivity of melanotic melanoma cells to the action of tigecycline suggests the possibility of considering the use of the drug in targeted therapy.
Topics: Humans; Tigecycline; Melanoma; Cell Proliferation; Apoptosis; Autophagy
PubMed: 37371034
DOI: 10.3390/cells12121564 -
Medicine Jun 2023Malignant melanoma (MM) is notorious for its remarkable morphological variation and aberrant histopathological patterns. In addition, Malignant Periopheral Nerve Sheath...
RATIONALE
Malignant melanoma (MM) is notorious for its remarkable morphological variation and aberrant histopathological patterns. In addition, Malignant Periopheral Nerve Sheath Tumor (MPNST) is an uncommon but aggressive soft tissue sarcoma. Because of the common embryological origin of melanocytes and Schwann cells in the neural crest, discriminating between a particular type of MM and MPNST can be difficult, particularly when they are amelanotic. Our goal is to increase awareness among clinicians of the rare variations of MM and the importance of medical history in improving the accuracy of the final clinical diagnosis.
PATIENT CONCERNS
A 68-year-old man was admitted to the hospital due to pain in his right ankle, which had persisted for 8 months, along with swelling for 4 months. Medical history revealed delayed healing of right plantar for 5 years after a traumatic injury.
DIAGNOSES
The ankle mass was initially diagnosed as MPNST through biopsy. After reviewing the patient's medical history and receiving the final pathological report following amputation, we have revised the diagnosis to metastatic amelanotic desmoplastic melanoma in the ankle part and lentigo maligna melanoma in the plantar part. This is due to both lesions displaying positive markers or mutated genes in immunohistology and Gene Mutation Detection, indicating homology between the 2 tumors.
INTERVENTIONS
Due to the malignant characteristics of the tumor and the patient's wishes, amputation of the right lower leg was carried out.
OUTCOMES
Subsequently, the patient was treated with interferon-γ and immunosuppressant PD-1 inhibitor, and survived for 1 year after amputation.
LESSONS
Clinical data, immunohistochemisty biomarkers and genes detection results can serve as valuable evidence for pathologists and clinicians in identifying the disease process. Collaborative efforts between clinicians and scientists are crucial in order to identify specific markers that can effectively differentiate between the 2 tumors, thereby enhancing the conclusiveness of the diagnosis.
Topics: Male; Humans; Aged; Neurofibrosarcoma; Melanoma; Skin Neoplasms; Melanocytes; Melanoma, Amelanotic; Melanoma, Cutaneous Malignant
PubMed: 37352079
DOI: 10.1097/MD.0000000000034034 -
Journal of Laboratory Physicians Jun 2023Malignant melanoma is an aggressive, notorious tumor showing great variability in morphological and immunohistochemical expression, thus commonly leading to an erroneous...
Malignant melanoma is an aggressive, notorious tumor showing great variability in morphological and immunohistochemical expression, thus commonly leading to an erroneous diagnosis. Within the melanoma group, amelanotic melanoma, with its wide clinical presentations, lack of pigmentation, and varied histological appearances, has taken on a new persona as a master masquerader. Use of immunohistochemistry in the diagnosis of malignant tumors, including melanoma, is primordial and indispensable. However, the problem gets compounded in scenario of aberrant antigenic expression. The present case posed multiple diagnostic challenges in form of atypical clinical presentation, variant morphology, as well as aberrant antigenic expression. Here, we present the case of a 72-year-old male who, upon his initial presentation, was thought to be sarcomatoid anaplastic plasmacytoma, but 5 months later another biopsy from a different site revealed the actual diagnosis of amelanotic melanoma.
PubMed: 37323600
DOI: 10.1055/s-0042-1757236 -
Dermatology Practical & Conceptual Apr 2023Diagnosis of melanoma can be very difficult because of its phenotypic and histological heterogeneity. Difficult-to-diagnose melanoma can be represented by mucosal...
INTRODUCTION
Diagnosis of melanoma can be very difficult because of its phenotypic and histological heterogeneity. Difficult-to-diagnose melanoma can be represented by mucosal melanoma, pink lesions, amelanotic melanoma (amelanotic lentigo maligna, amelanotic acral melanoma, desmoplastic melanoma), melanoma arising on sun-damaged facial skin, and "featureless melanoma".
OBJECTIVES
The aim of the study was to improve the identification of featureless melanoma (scoring 0-2 according to the 7-point-checklist) describing the variegated dermoscopic features and their histopathological correlation.
METHODS
Study samples included all melanomas excised based on clinical and/or dermoscopic findings in the period between January 2017 and April 2021. Before excisional biopsy, all lesions were recorded by means of digital dermoscopy at the department of Dermatology. Only lesions with a diagnosis of melanoma and a high quality of dermoscopic images were included in this study. After clinical and dermoscopic evaluation of 7-point checklist score, single dermoscopic and histological features were considered for lesions with a score of 2 or lower and a diagnosis of melanoma (corresponding to dermoscopic featureless melanoma).
RESULTS
A total of 691 melanomas fulfilled inclusion criteria and were retrieved from the database. The 7-point checklist evaluation identified 19 "negative-featureless" melanoma. The 100% of the lesions with score 1 showed a globular pattern.
CONCLUSIONS
Dermoscopy is still the best diagnostic method for melanoma. The 7-point checklist provides a simplification of standard pattern analysis because of the algorithm based on a scoring system and the lower number of features to recognize. In the daily practice it is more comfortable for many clinicians to keep in mind a list of principles that may help in the decision.
PubMed: 37196275
DOI: 10.5826/dpc.1302a80