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Annals of the Royal College of Surgeons... Oct 2021Malignant melanoma of the gastrointestinal tract is usually a metastasis from a cutaneous source. Primary gastric melanoma is an extremely rare clinical entity, with few...
Malignant melanoma of the gastrointestinal tract is usually a metastasis from a cutaneous source. Primary gastric melanoma is an extremely rare clinical entity, with few reported cases worldwide. It is often advanced at the time of diagnosis and is associated with a poor outcome. We report a case of a 57-year-old male who presented to the emergency department with complaints of fatigue, haematemesis and melena. Laboratory investigation indicated a haemoglobin level of 7.4g/dl, for which the patient received a transfusion. Upper gastrointestinal endoscopy revealed a bleeding mass in the body of stomach which provisional histology was suggestive of a malignant mesenchyimal tumour but subsequent cytomorphology and immunophenotyping were consistent with malignant melanoma, with positive S-100, HMB-45 and Melan-A. Dermatological exam indicated two lesions suspicious for the primary site of metastasis but were ultimately diagnosed as benign lesions, one junctional nevus and other one seborrheic keratosis, on biopsies. Ophthalmologic exam showed no other probable sites of origin. PET/CT showed accumulation of tracer in the stomach, jejunum and perigastric lymph nodes. For this reason, primary advanced gastric melanoma was suspected in this patient. Since the patient had recurrent upper gastrointestinal bleeding that required frequent blood transfusion, a total gastrectomy with partial small bowel resection was performed. We report this case to present initial diagnostic challange and discuss performing surgery for recurrent tumour bleeding.
Topics: Gastrointestinal Hemorrhage; Humans; Male; Melanoma; Middle Aged; Recurrence; Stomach Neoplasms; Upper Gastrointestinal Tract
PubMed: 34431710
DOI: 10.1308/rcsann.2020.7139 -
American Journal of Human Genetics Jul 2010High melanocytic nevus count is a strong predictor of melanoma risk. A GWAS of nevus count in Australian adolescent twins identified an association of nevus count with...
High melanocytic nevus count is a strong predictor of melanoma risk. A GWAS of nevus count in Australian adolescent twins identified an association of nevus count with the interferon regulatory factor 4 gene (IRF4 [p = 6 x 10(-9)]). There was a strong genotype-by-age interaction, which was replicated in independent UK samples of adolescents and adults. The rs12203592(*)T allele was associated with high nevus counts and high freckling scores in adolescents, but with low nevus counts and high freckling scores in adults. The rs12203592(*)T increased counts of flat (compound and junctional) nevi in Australian adolescent twins, but decreased counts of raised (intradermal) nevi. In combined analysis of melanoma case-control data from Australia, the UK, and Sweden, the rs12203592(*)C allele was associated with melanoma (odds ratio [OR] 1.15, p = 4 x 10(-3)), most significantly on the trunk (OR = 1.33, p = 2.5 x 10(-5)). The melanoma association was corroborated in a GWAS performed by the GenoMEL consortium for an adjacent SNP, rs872071 (rs872071(*)T: OR 1.14, p = 0.0035; excluding Australian, the UK, and Swedish samples typed at rs12203592: OR 1.08, p = 0.08).
Topics: Adolescent; Adult; Age Factors; Aged; Aged, 80 and over; Case-Control Studies; Child; Cyclin-Dependent Kinase Inhibitor p16; Female; Genetic Predisposition to Disease; Genome-Wide Association Study; Humans; Interferon Regulatory Factors; Male; Melanoma; Middle Aged; Nevus; Polymorphism, Single Nucleotide; Skin Neoplasms; Young Adult
PubMed: 20602913
DOI: 10.1016/j.ajhg.2010.05.017 -
Journal of Biomedical Optics Sep 2022Skin malformations in dermatology are mostly evaluated subjectively, based on a doctor's experience and visual perception; an option for objective quantitative skin...
SIGNIFICANCE
Skin malformations in dermatology are mostly evaluated subjectively, based on a doctor's experience and visual perception; an option for objective quantitative skin assessment is camera-based spectrally selective diagnostics. Multispectral imaging is a technique capable to provide information about concentrations of the absorbing chromophores and their distribution over the malformation in a noncontact way. Conversion of spectral images into distribution maps of chromophores can be performed by means of the modified Beer-Lambert law. However, such distribution maps represent only single specific cases, therefore, some extensive method for data comparison is needed.
AIM
This study aims to develop a more informative approach for identification and characterization of skin malformations using three-dimensional (3D) representation of triple spectral line imaging data.
APPROACH
The 3D-representation method is experimentally tested on eight different skin pathology types, including both benign and malignant pathologies; an imaging device ensuring uniform three laser line (448, 532, and 659 nm) illumination is used. Three spectral line images are extracted from a single snapshot RGB image data, with subsequent calculation of attenuation coefficients for each working wavelength at every image pixel and represented as 3D graphs. Skin chromophore content variations in malformations are represented in a similar way.
RESULTS
Clinical measurement results for 99 skin pathologies, including basal cell carcinomas, melanoma, dermal nevi, combined nevi, junctional nevi, blue nevi, seborrheic keratosis, and hemangiomas. They are presented as 3D spectral attenuation maps exhibiting specific individual features for each group of pathologies. Along with intensity attenuation maps, 3D maps for content variations of three main skin chromophores (melanin, oxyhemoglobin, and deoxyhemoglobin), calculated in frame of a model based on modified Beer-Lambert law, are also presented. Advantages and disadvantages of the proposed data representation method are discussed.
CONCLUSIONS
The described 3D-representation method of triple spectral line imaging data shows promising potential for objective quantitative noncontact diagnosis of skin pathologies.
Topics: Diagnostic Imaging; Humans; Melanins; Nevus; Oxyhemoglobins; Skin
PubMed: 36114603
DOI: 10.1117/1.JBO.27.9.095005 -
The American Journal of Dermatopathology Mar 2016Melanocyte differentiation antigens, such as gp100, tyrosinase, and Melan-A and their corresponding antibodies HMB45, T311, and A103, are major diagnostic tools in...
Melanocyte differentiation antigens, such as gp100, tyrosinase, and Melan-A and their corresponding antibodies HMB45, T311, and A103, are major diagnostic tools in surgical pathology. Little is known about tyrosinase-related protein 2 (TRP-2, or dopachrome tautomerase/DCT) another melanocyte differentiation antigen, which is an enzymatic component of melanogenesis. We identified a commercial reagent to TRP-2, monoclonal antibody (mAb) C-9 and undertook a comprehensive analysis to assess its specificity and usefulness for surgical pathology. Subsequently, we analyzed panels of normal tissues and tumors. We show that TRP-2 is regularly expressed in melanocytes of the normal skin. In cutaneous nevi, TRP-2 is present in junctional as well as in dermal nevocytes. In malignant tumors, C-9 reactivity is restricted to melanocytic and related lesions and present in 84% and 58% of primary and metastatic melanomas, respectively. Ten primary melanomas of the anorectal mucosa were all positive. Like the other melanocyte differentiation antigens, TRP-2 was absent in 6 desmoplastic melanomas. Also, only 2 of 9 angiomyolipomas were TRP-2 positive. We conclude that mAb C-9 is a valuable reagent for the analysis of TRP-2 expression in archival surgical pathology material. The expression pattern of TRP-2 in melanocytic and related lesions appears to parallel other melanocyte differentiation antigens, although the overall incidence is lower than other antigens, such as Melan-A or gp100.
Topics: Antibodies, Monoclonal; Antibody Specificity; Biomarkers, Tumor; Enzyme-Linked Immunosorbent Assay; Humans; Immunohistochemistry; Intramolecular Oxidoreductases; Melanocytes; Melanoma; Nevus; Real-Time Polymerase Chain Reaction; Skin; Skin Neoplasms; Transcriptome
PubMed: 26894771
DOI: 10.1097/DAD.0000000000000362 -
Journal of Cancer Aug 2010A previous in vitro study revealed that Wilms's tumor 1 (WT-1) transcripts were detectable in 7 of 9 melanoma cell lines, but not in any of 5-normal melanocyte strains...
A previous in vitro study revealed that Wilms's tumor 1 (WT-1) transcripts were detectable in 7 of 9 melanoma cell lines, but not in any of 5-normal melanocyte strains tested. Our current study assessed the expression levels of WT-1 protein in clinical samples, to determine whether the expression levels of the WT-1 protein may be used as a novel marker to assist differential diagnosis. Paraffin-embedded tissue sections from 15 cases of malignant melanomas and 25 cases of benign nevi were subjected to immunohistochemistry with a monoclonal antibody against the human WT-1 protein. The expression levels of WT-1 protein among normal, benign, and malignant melanocytes were semi-quantitatively assessed. Strong and uniform WT-1 immunoreactivities were seen in all or nearly all tumor cells in both the junctional and dermal components of all malignant melanomas, and also in a vast majority of the tumor cells of Spitz's (n = 8), recurrent (n = 2), and junction (n = 2) nevi. Distinct WT-1 immunoreactivities were also seen in some isolated individual tumor cells or tumor cell clusters in the junctional component of compound nevus (9) and in intradermal nevus (2). It is interesting to note that some isolated normal appearing melanocytes or cell clusters, and all morphologically distinct endothelial cells were strongly positive to WT-1. However, all tumor cells within the dermal component of compound (n = 9) or deep penetrating nevi (n = 1), or capsular nevus inclusion of lymph node (1) were devoid of WT-1 expression. Our findings suggest that the expression level of the WT-1 protein has no significant value in distinguishing between Spitz's nevi and malignant melanoma, but it may be a useful marker in differentiating between benign and malignant melanocytes within the dermal component. Our findings also suggest that aberrant WT-1 expression may have oncogenic properties that promote the initiation and progression of melanocytic lesions.
PubMed: 20842234
DOI: 10.7150/jca.1.120 -
Indian Journal of Dermatology Nov 2011An 8-year-old male patient who had been diagnosed as acute lymphoblastic leukemia (ALL) 4 years ago and received 120 cures of chemotherapy presented at our clinic...
An 8-year-old male patient who had been diagnosed as acute lymphoblastic leukemia (ALL) 4 years ago and received 120 cures of chemotherapy presented at our clinic complaining of spots on his body 3 months after the end of chemotherapy. Anamnesis of the patient revealed that the lesions started 3 months after the last cure of chemotherapy on the abdomen and spread throughout the body. It was learnt that the number of spots increased very rapidly in a period of 2 months, and exceeded 100. A dermatological examination of the patient showed 142 hyperpigmented macules, the largest of which was 1 cm × 1 cm and the smallest was 0.2 cm × 0.2 cm in size, diffusely scattered to the skin and oral mucosa. When the biopsy material taken from the lesions was histopathologically examined, nest structures composed of nevus cells with oval nuclei and eosinophilic cytoplasm starting from the dermoepidermal junction and extending toward the lower epidermis were observed and found to be consistent with the compound nevus. We present this rare case who was diagnosed as "eruptive compound nevus" on the basis of clinical signs, ALL diagnosis, chemotherapy history and histopathologic evaluation.
PubMed: 22345784
DOI: 10.4103/0019-5154.91842 -
JAMA Dermatology Jan 2018Balloon cell melanoma is a rare subtype of melanoma that is underrecognized clinically and is challenging to diagnose on histologic studies.
IMPORTANCE
Balloon cell melanoma is a rare subtype of melanoma that is underrecognized clinically and is challenging to diagnose on histologic studies.
OBJECTIVE
To further characterize the clinical, dermoscopic, and histopathologic features of balloon cell melanomas and their correlation to gene expression.
DESIGN, SETTING, AND PARTICIPANTS
Case series of 2 patients with balloon cell melanoma whose medical records were retrieved from the database of Thomas Jefferson University Dermatopathology Center in Philadelphia, Pennsylvania. Both cases had been referred to the institution's dermatopathology laboratory and provided complete data on clinical, dermoscopic, and histopathologic findings and gene-expression profiles.
MAIN OUTCOMES AND MEASURES
Dermoscopic findings, histopathologic findings, and results of gene expression tests.
RESULTS
In the 2 patients included, translucent hypopigmented areas on gross examination and a translucent white-gray veil and dull yellow globules on dermoscopic examination correlated with the balloon cell melanocytic region demonstrated on histologic studies with hematoxylin-eosin stain. Specifically, dull yellow globules corresponded to the balloon cell melanocytic nests. Both lesions presented with a second, morphologically distinct population of melanocytes, common in balloon cell melanocytic neoplasms. In both cases, a prominent junctional component that consisted of cells demonstrating ample clear-to-granular cytoplasm and a central nucleus were present. Cytologic atypia was minimal to lacking in both cases, and architectural disorder served as a better clue to the diagnosis. Findings of a gene expression profiling test corroborated the diagnosis in both cases.
CONCLUSIONS AND RELEVANCE
Balloon cell melanomas may present with characteristic clinical and dermoscopic findings, and a gene expression profiling test may provide additional useful diagnostic information in cases that are difficult to interpret.
Topics: Adult; Biopsy, Needle; Dermoscopy; Diagnosis, Differential; Female; Gene Expression Regulation, Neoplastic; Humans; Immunohistochemistry; Male; Melanocytes; Melanoma; Middle Aged; Nevus, Pigmented; Prognosis; Risk Assessment; Sampling Studies; Skin Neoplasms; Melanoma, Cutaneous Malignant
PubMed: 29238799
DOI: 10.1001/jamadermatol.2017.4700 -
Annals of Saudi Medicine 2010Conjunctival nevi are benign lesions with wide variation in clinical and histopathological features. The differentiation between benign nevi and other pigmented lesions...
BACKGROUND AND OBJECTIVE
Conjunctival nevi are benign lesions with wide variation in clinical and histopathological features. The differentiation between benign nevi and other pigmented lesions is essential. The aim of our study was to identify the distribution of the histopathologic types of conjunctival nevi among the Saudi population and to provide the basic knowledge needed for proper clinical diagnosis.
PATIENTS AND METHODS
This retrospective study of surgically excised benign conjunctival nevi was conducted at a tertiary care eye hospital from 1995 to 2006. Clinical data was collected from medical records and the histopathologic features reviewed by a single pathologist.
RESULTS
A total 105 conjunctival nevi were included from 104 consecutive patients (mean age, 26 years, 54 males and 50 females). The anatomical location was the bulbar conjunctiva in 83%, juxtalimbal in 12%, caruncle in 4% and palpebral in 1%. The lesion was removed for cosmetic reasons in 38% while 8% of the lesions were removed to rule out malignancy. The compound nevus was the commonest (72%) in all age groups, followed by subepithelial nevus (24%) and finally junctional nevus (3%).
CONCLUSIONS
The distribution of the histopathologic types of this tumor in our population matches the pattern in other areas of the world with the compound nevus being the commonest lesion. However, fewer lesions among our patients are removed to rule out malignancy.
Topics: Adolescent; Adult; Aged; Child; Child, Preschool; Conjunctival Neoplasms; Female; Hospitals, Special; Humans; Infant; Male; Middle Aged; Nevus, Pigmented; Retrospective Studies; Saudi Arabia; Young Adult
PubMed: 20622349
DOI: 10.4103/0256-4947.65265 -
Dermatology and Therapy Feb 2022Topical imiquimod is an off-label alternative treatment for lentigo maligna used when surgery cannot be performed. Severe inflammatory response induced by this drug may...
Topical imiquimod is an off-label alternative treatment for lentigo maligna used when surgery cannot be performed. Severe inflammatory response induced by this drug may generate many complaints and force patients to discontinue use. We present a case in which interval treatment with 5% topical imiquimod was implemented for severe inflammatory response. An 82-year-old Caucasian woman presented with a large, irregularly pigmented lesion on her left cheek within the scar of a previously excised melanocytic lesion diagnosed as junctional nevus. Based on dermatoscopical examination confirmed by histopathological description, lentigo maligna was diagnosed. Since the lesion was large and covered the lower left eyelid and due to the risk of disfigurement, the patient refused surgical excision. Therefore, treatment with imiquimod 5% once daily, five times per week, was offered. After 5 weeks, the treatment was stopped because of intense inflammatory reaction and ulceration. On the follow-up visit after 3 months, videodermatoscopical examination revealed changes in the pigmentation of the lentigo maligna including the presence of residual gray dots and fading of the previous dark brown and black colors. The inflammatory response had almost resolved. The second course of treatment with imiquimod five times a week was implemented again for 5 weeks, and after a 2-month interval the third course with the same regimen was started. Total clearance of the lesion was achieved, which was confirmed by videodermatoscopical examination. During the 2-year follow-up, no relapse was observed based on dermatoscopical examination. We propose interval treatment with topical imiquimod 5% lentigo maligna for severe inflammatory reactions in patients with contraindications to surgery. This could help patients overcome this typical response effect and decrease their cessation of treatment.
PubMed: 35083713
DOI: 10.1007/s13555-021-00667-w -
Actas Dermo-sifiliograficas Mar 2021Nevi of special sites (NOSS) are benign melanocytic lesions that occur at particular sites. Although the histological features of NOSS have been described, their...
BACKGROUND
Nevi of special sites (NOSS) are benign melanocytic lesions that occur at particular sites. Although the histological features of NOSS have been described, their immunophenotypic features have not been fully characterized.
AIMS
To present the clinicopathological characteristics of a case series of NOSS and to characterize their immunohistochemical profile.
MATERIALS AND METHODS
Thirty-five NOSS were assessed using immunoperoxidase staining techniques for the melanocytic (S100, Melan-A, and HMB45) and proliferation (Ki-67) markers RESULTS: All of the cases of NOSS showed concerning architectural changes (prominent lentiginous melanocytic proliferation, irregularities, crowdedness, and dyhesiveness of the nests), and cytological atypia (large nevomelanocytes with vesicular nuclei, clear cytoplasm, and dusty melanin pigment) that can lead to a misdiagnosis of atypical nevi or even melanomas. All of the cases of NOSS showed diffuse expression of S100 and Melan-A proteins. Ki-67 labeling index of the nevomelanocytes was extremely low. HMB45 protein expression was limited to the junctional and superficial dermal nevomelanocytes.
CONCLUSIONS
NOSS can show histological features that can easily mimic atypical nevi or melanomas and this diagnostic consideration should be kept in mind to avoid their misdiagnosis. The expression of HMB45 protein in NOSS indicates that their nevomelanocytic cells have an activated phenotype. The decreased HMB45 protein expression following a gradient from junctional to deeper dermal localization in NOSS is indicative of their immunohistochemical maturation.
Topics: Humans; Melanoma; Nevus; Nevus, Epithelioid and Spindle Cell; Nevus, Pigmented; Skin Neoplasms
PubMed: 33232704
DOI: 10.1016/j.ad.2020.11.009