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Journal of the American Academy of... Feb 2024Dermoscopic and reflectance confocal microscopy (RCM) correlations between morphologic groups of melanoma have not yet been described.
BACKGROUND
Dermoscopic and reflectance confocal microscopy (RCM) correlations between morphologic groups of melanoma have not yet been described.
OBJECTIVE
Describe and compare dermoscopic and RCM features of cutaneous melanomas with histopathological confirmation.
METHODS
Single center, retrospective analysis of consecutive melanomas evaluated with RCM (2015-2019). Lesions were clinically classified as typical, nevus-like, amelanotic/nonmelanoma skin cancer (NMSC)-like, seborrheic keratosis (SK)-like and lentigo/lentigo maligna (LM)-like. Presence or absence of common facial and nonfacial melanoma dermoscopic and RCM patterns were recorded. Clusters were compared with typical lesions by multivariate logistic regression.
RESULTS
Among 583 melanoma lesions, significant differences between clusters were evident (compared to typical lesions). Observation of dermoscopic features (>50% of lesions) in amelanotic/NMSC-like lesions consistently displayed 3 patterns (atypical network, atypical vascular pattern + regression structures), and nevus-like and SK-like lesions and lentigo/LM-like lesions consistently displayed 2 patterns (atypical network + regression structures, and nonevident follicles + heavy pigmentation intensity). Differences were less evident with RCM, as almost all lesions were consistent with melanoma diagnosis.
LIMITATIONS
Small SK-like lesions sample, single RCM analyses (no reproduction of outcome).
CONCLUSION
RCM has the potential to augment our ability to consistently and accurately diagnose melanoma independently of clinical and dermoscopic features.
Topics: Humans; Melanoma; Dermoscopy; Retrospective Studies; Skin Neoplasms; Hutchinson's Melanotic Freckle; Keratosis, Seborrheic; Nevus; Nevus, Pigmented; Lentigo; Microscopy, Confocal; Diagnosis, Differential
PubMed: 37988042
DOI: 10.1016/j.jaad.2023.09.084 -
Survey of Ophthalmology 2020Intraocular leiomyoma is a benign smooth muscle tumor. First recognized before the era of immunohistochemistry, uveal leiomyomas have been described in case reports and... (Review)
Review
Intraocular leiomyoma is a benign smooth muscle tumor. First recognized before the era of immunohistochemistry, uveal leiomyomas have been described in case reports and small case series. We add 3 new cases, for a total of 80. Of these, there were 29 men and 51 women. The mean and median ages were 35.8 and 30.5 years respectively, with a range of 8 to 80 years. Curiously, ciliary body tumors were more common in females, whereas iris and posterior choroidal leiomyomas were more prevalent in males. Infrequently associated with systemic fibroids, nuclear expression of sex steroid receptors was inconsistent. Iris and posterior choroidal leiomyoma were predominantly amelanotic, while 40% of ciliary body leiomyomas were brown. Two-thirds of the leiomyomas blocked transillumination partially or completely, a feature shared by uveal melanoma. In general, low-frequency ultrasound imaging reveals low to moderate internal reflectivity; however, high-frequency anterior uveal ultrasound was used to localize a leiomyoma as resident in the suprachoroidal space with an overlying layer of intact choroid. In the few cases examined by physiologic imaging, increased metabolic activity (typically associated with malignancy and inflammation) has been noted. We found that pigmented uveal leiomyomas can be clinically identical to melanoma. Therefore, histopathology with immunohistochemical staining for smooth muscle actin was the most reliable diagnostic method to differentiate pigmented uveal leiomyoma from melanoma. Treatment is governed by the clinical diagnosis, tumor size and location, as well as prognosis for vision and globe preservation.
Topics: Adult; Eye Neoplasms; Female; Humans; Leiomyoma; Male; Middle Aged; Uvea
PubMed: 31923479
DOI: 10.1016/j.survophthal.2019.12.008 -
International Journal of Molecular... Jan 2023Melanoma is one of the fastest-growing cancers worldwide. Treatment of advanced melanoma is very difficult; therefore, there is growing interest in the identification of...
Melanoma is one of the fastest-growing cancers worldwide. Treatment of advanced melanoma is very difficult; therefore, there is growing interest in the identification of new therapeutic agents. Pterostilbene is a natural stilbene that has been found to have several pharmacological activities. The aim of this study was to evaluate the influence of pterostilbene on the proliferation and apoptosis of human melanoma cells. Proliferation of pterostilbene-treated amelanotic (C32) and melanotic (A2058) melanoma cells was determined by BRDU assay. Flow cytometric analyses were used to determine cell cycle progression, and further molecular investigations were performed using real-time RT-qPCR. The expression of the p21 protein and the DNA fragmentation assay were determined by the ELISA method. The results revealed that pterostilbene reduced the proliferation of both amelanotic and melanotic melanoma cells. Pterostilbene induced apoptosis in amelanotic C32 melanoma cells, and this effect was mediated by an increase in the expression of the , , and genes; induction of caspase 3 activity; and DNA degradation. Pterostilbene did not affect the activation of apoptosis in the A2058 cell line. It may be concluded that pterostilbene has anticancer potential against human melanoma cells; however, more studies are still needed to fully elucidate the effects of pterostilbene on amelanotic and melanotic melanoma cells.
Topics: Humans; Skin Neoplasms; Stilbenes; Melanoma, Amelanotic; Apoptosis; Cell Proliferation; Cell Line, Tumor; Melanoma, Cutaneous Malignant
PubMed: 36674631
DOI: 10.3390/ijms24021115 -
Acta Ophthalmologica Scandinavica Dec 2005Schwannoma is rarely encountered as an intraocular tumor arising from uveal tract. We describe a case of choroidal schwannoma.
PURPOSE
Schwannoma is rarely encountered as an intraocular tumor arising from uveal tract. We describe a case of choroidal schwannoma.
METHODS
A 74-year-old woman presented with rapidly decreasing visual acuity and proptosis for 2 months. To further delineate the tumor, she underwent enucleation of the eyeball. The tumor was examined by light microscopy, electron microscopy and immunohistochemical study.
RESULTS
Microscopically, the tumor was composed of a mixture of cellular solid component (Antoni A) and loose myxoid component (Antoni B). Immunohistochemical study revealed a positive reaction for S-100 protein. Ultrastructurally, the tumor cells showed prominent, continuous basal lamina.
CONCLUSIONS
We enucleated the eyeball with a clinical diagnosis of choroidal amelanotic melanoma, but the tumor was finally diagnosed as schwannoma. We think that currently available ancillary studies are still little value in definitely differentiating schwannoma from other choroidal tumors.
Topics: Aged; Choroid Neoplasms; Diagnosis, Differential; Eye Enucleation; Female; Humans; Magnetic Resonance Imaging; Neurilemmoma; Ultrasonography; Visual Acuity
PubMed: 16396657
DOI: 10.1111/j.1600-0420.2005.00517.x -
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 -
PloS One 2020Amelanotic/hypomelanotic melanoma is a clinicopathologic subtype with absent or minimal melanin. This study assessed previously reported coding variants in albinism...
Amelanotic/hypomelanotic melanoma is a clinicopathologic subtype with absent or minimal melanin. This study assessed previously reported coding variants in albinism genes (TYR, OCA2, TYRP1, SLC45A2, SLC24A5, LRMDA) and common intronic, regulatory variants of OCA2 in individuals with amelanotic/hypomelanotic melanoma, pigmented melanoma cases and controls. Exome sequencing was available for 28 individuals with amelanotic/hypomelanotic melanoma and 303 individuals with pigmented melanoma, which were compared to whole exome data from 1144 Australian controls. Microarray genotyping was available for a further 17 amelanotic/hypomelanotic melanoma, 86 pigmented melanoma, 147 melanoma cases (pigmentation unknown) and 652 unaffected controls. Rare deleterious variants in TYR/OCA1 were more common in amelanotic/hypomelanotic melanoma cases than pigmented melanoma cases (set mixed model association tests P = 0.0088). The OCA2 hypomorphic allele p.V443I was more common in melanoma cases (1.8%) than controls (1.0%, X2 P = 0.02), and more so in amelanotic/hypomelanotic melanoma (4.4%, X2 P = 0.007). No amelanotic/hypomelanotic melanoma cases carried an eye and skin darkening haplotype of OCA2 (including rs7174027), present in 7.1% of pigmented melanoma cases (P = 0.0005) and 9.4% controls. Variants in TYR and OCA2 may play a role in amelanotic/hypomelanotic melanoma susceptibility. We suggest that somatic loss of function at these loci could contribute to the loss of tumor pigmentation, consistent with this we found a higher rate of somatic mutation in TYR/OCA2 in amelanotic/hypomelanotic melanoma vs pigmented melanoma samples (28.6% vs 3.0%; P = 0.021) from The Cancer Genome Atlas Skin Cutaneous Melanoma collection.
Topics: Albinism; Genetic Variation; Germ-Line Mutation; Humans; Melanoma; Membrane Transport Proteins; Monophenol Monooxygenase; Point Mutation; Polymorphism, Single Nucleotide; Skin Neoplasms; Exome Sequencing
PubMed: 32966289
DOI: 10.1371/journal.pone.0238529 -
Dermatologic Clinics Oct 2016Reflectance confocal microscopy (RCM) together with dermoscopy enables improved differentiation of melanomas from most nevi. The resulting high sensitivity for detecting... (Review)
Review
Reflectance confocal microscopy (RCM) together with dermoscopy enables improved differentiation of melanomas from most nevi. The resulting high sensitivity for detecting melanoma with RCM is complemented by a concomitant increased specificity, which results in the reduction of unnecessary biopsies of nevi. Although RCM can achieve high diagnostic accuracy for early melanoma detection, false-negative and false-positive cases of melanoma are occasionally encountered. This article reviews the essential clues and pitfalls for the diagnosis of melanoma via RCM and highlights the importance of evaluating RCM findings in light of the clinical scenario and dermoscopic features.
Topics: Dermoscopy; Diagnosis, Differential; Humans; Intravital Microscopy; Melanoma; Melanoma, Amelanotic; Microscopy, Confocal; Nevus; Nevus, Pigmented; Skin Neoplasms
PubMed: 27692446
DOI: 10.1016/j.det.2016.05.003 -
Indian Journal of Dermatology,... 2010We report a case of 65-year-old male patient who presented with multiple erythematous papules coalescing to form a nodular mass over posterior aspect of right thigh of...
We report a case of 65-year-old male patient who presented with multiple erythematous papules coalescing to form a nodular mass over posterior aspect of right thigh of six months duration. His general and systemic examinations were within normal range except for right inguinal lymphadenopathy. Biopsy from the lesion was done, which showed diffuse infiltrate of nests of atypical melanocytes extending upto reticular dermis. Malignant cells were positive for S100 and human melanin black 45(HMB 45). Hence, a diagnosis of amelanotic melanoma (AM)--Clarke level IV and TNM stage III was reached. MRI of involved leg showed fungating soft tissue mass in the posterolateral aspect of right thigh and metastatic right inguinal adenopathy. Fine needle aspiration cytology (FNAC) from the right inguinal nodes confirmed metastasis of melanoma. The patient was referred to oncosurgery department for further management.
Topics: Aged; Humans; Male; Melanoma, Amelanotic; Skin Neoplasms
PubMed: 20445300
DOI: 10.4103/0378-6323.62972 -
Cureus Jul 2023Amelanotic malignant melanoma (AMM) is a skin cancer that arises from mutated melanocytes that lack pigmentation. AMM represents 2-8% of all malignant melanomas. This...
Amelanotic malignant melanoma (AMM) is a skin cancer that arises from mutated melanocytes that lack pigmentation. AMM represents 2-8% of all malignant melanomas. This rare subtype is difficult to diagnose clinically as it mimics other benign skin lesions. AMM can occur in any part of the body with various presentations and has a predilection for male gender and fair skin tones. We present a case report of a 62-year-old Caucasian male with AMM of the right lower extremity. The patient presented with a painless nodule on his right lower extremity that rapidly increased in size for seven months with no signs of malignancy, such as fever, night sweats, fatigue, bruising, weight loss, or headache. Simultaneously, the patient presented with right inguinal lymphadenopathy and pitting edema of the right lower extremity. The patient had a previous medical history of basal and squamous cell carcinoma and psoriasis with no personal or family history of melanoma. The mass was excised and sent to a pathologist along with a right inguinal sentinel lymph node biopsy. The final pathology report revealed an ulcerated AMM on the right lower extremity and a positive node for melanoma with a metastatic deposit. The patient underwent adjuvant immunotherapy resulting in the clearance of the cancer cells. This report highlights the importance of early diagnosis, appropriate surgical management, and adjuvant therapy to improve the prognosis of this rare melanoma subtype.
PubMed: 37575793
DOI: 10.7759/cureus.41665 -
Cureus Feb 2022Sinonasal malignant melanoma is a rare but aggressive tumor of the head and neck area. It has a poor prognosis. Common symptoms are nasal obstruction, epistaxis, or...
Sinonasal malignant melanoma is a rare but aggressive tumor of the head and neck area. It has a poor prognosis. Common symptoms are nasal obstruction, epistaxis, or purulent rhinorrhea. Diagnosis relies on histopathology with immunohistochemistry (IHC) studies. Surgery is the essential treatment, most often supplemented by radiotherapy or immunotherapy. A 63-year-old female patient, with a history of right dacryocystorhinostomy and Parkinson's disease, consulted for symptoms of right nasal obstruction with increasing intensity accompanied by two episodes of mild unilateral epistaxis. Rigid optic examination showed a white-pinkish right obstructive supra-centimetric endonasal tumor. CT revealed an extensive tissue process of the right nasal cavity invading the maxillary sinus, the inferior and middle conchas. A biopsy of the lesion was conducted under local anesthesia. The immunohistochemical study has shown undifferentiated tumor with positive antibody anti PS100 and anti-melan A evoking malignant sinonasal melanoma. The patient underwent two surgeries for maxillectomies as she presented a first local recurrence. She was started on adjuvant radiotherapy. At one year of follow-up, she does not present any local or general signs of disease. Sinonasal melanoma is a particular entity of head and neck mucosal melanomas. The highest incidence is described to be in the seventh and eighth decades of life with no sex difference. IHC profiling of different melanoma subtypes showed the importance of alterations in the KIT gene, this genetic data may constitute a therapeutic target. After surgery, the important local recurrence rates and regional failure justify adjuvant radiotherapy also for resections in free margins. Most authors consider that prophylactic neck dissection is not necessary. Preoperative imaging features (CT scan) are characteristic and helpful for diagnosis. IHC is essential, has a high sensitivity for differentiating achromic melanomas from other neoplasms. Sinonasal achromic melanoma is a very uncommon tumor, invasive, and frequently associated with distant metastasis. Paraclinic examinations are essential for staging and guiding therapeutic management. Immunotherapy is a promising ground of research as it comes to metastatic and advanced disease.
PubMed: 35371814
DOI: 10.7759/cureus.22442