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2.
Ann Diagn Pathol ; 50: 151681, 2021 Feb.
Article in English | MEDLINE | ID: mdl-33341705

ABSTRACT

Histologically undetermined early acral melanoma in situ (HUAMIS) is rare but a diagnostic challenge, being clinically and dermoscopically MIS (late onset, a large size (>7 mm), parallel ridges pattern) but microscopically without recognizable cytological atypia. Cyclin D1 (CCND1) gene amplification is a genetic aberration occurring in the early radial growth phase of AMs and could thus help determine malignancy for this disease. We determine the value of CCND1 amplification by FISH as a diagnostic marker for HUAMIS. CCND1 amplification was examined in paraffin-embedded skin biopsies and excisions using a dual-probes fluorescence in situ hybridization (FISH) (11q13 and CEP11). One FISH-negative case 6 was additionally examined by Mypath Melanoma (qRT-PCR). Seventeen cases (12 dysplastic nevi, 3 AMIS, and 2 invasive AM) were served as negative controls for FISH. All six patients (4 females and 2 males) were Hispanic. Pigment lesions were on the left plantar foot (4), right third finger palm (1), and right thumb subungual (1). All cases showed similar clinical and dermoscopical characteristics, including late onset (50 to 74 years old), long duration (from 2 to 15 years), large-sized pigments (from 16 to 40 mm), and a parallel ridge pattern. Junctional melanocytes with no or minimal atypia from five cases showed CCND1 amplifications. Four of 5 cases were received 1st or/and 2nd wide excisions, which demonstrated foci of histologically overt MIS. One FISH-negative case 6 demonstrated "likely malignancy" scores (>2) by Mypath Melanoma (qRT-PCR). None of negative controls showed the amplification. We propose here a simple CCND1 FISH is a practical diagnostic test to determine the malignancy of the very early progression phase of AM preceding histopathologically defined MIS. Cases presented here could be an indolent subtype of AMIS characterized by carrying a long latent radial growth phase without vertical growth, mimicking lentigo maligna.


Subject(s)
Cyclin D1/metabolism , In Situ Hybridization, Fluorescence/methods , Melanocytes/metabolism , Melanoma/metabolism , Skin Neoplasms/metabolism , Aged , Biopsy , Dermoscopy/methods , Female , Follow-Up Studies , Gene Amplification/genetics , Hispanic or Latino/genetics , Hispanic or Latino/statistics & numerical data , Humans , Male , Melanocytes/pathology , Melanoma/diagnosis , Melanoma/pathology , Melanoma/surgery , Middle Aged , Skin/pathology , Skin Neoplasms/diagnosis , Skin Neoplasms/pathology , Skin Neoplasms/surgery , Treatment Outcome , Melanoma, Cutaneous Malignant
4.
Mol Cancer Res ; 18(11): 1623-1637, 2020 11.
Article in English | MEDLINE | ID: mdl-32753470

ABSTRACT

Multiple human polyomaviruses (HPyV) can infect the skin, but only Merkel cell polyomavirus (MCPyV) has been implicated in the development of a cancer, Merkel cell carcinoma (MCC). While expression of HPyV6, HPyV7, and MCPyV small T antigens (sT), all induced a senescence-associated secretory phenotype (SASP), MCPyV sT uniquely activated noncanonical NF-κB (ncNF-κB), instead of canonical NF-κB signaling, to evade p53-mediated cellular senescence. Through its large T stabilization domain, MCPyV sT activated ncNF-κB signaling both by inducing H3K4 trimethylation-mediated increases of NFKB2 and RELB transcription and also by promoting NFKB2 stabilization and activation through FBXW7 inhibition. Noncanonical NF-κB signaling was required for SASP cytokine secretion, which promoted the proliferation of MCPyV sT-expressing cells through autocrine signaling. Virus-positive MCC cell lines and tumors showed ncNF-κB pathway activation and SASP gene expression, and the inhibition of ncNF-κB signaling prevented VP-MCC cell growth in vitro and in xenografts. We identify MCPyV sT-induced ncNF-κB signaling as an essential tumorigenic pathway in MCC. IMPLICATIONS: This work is the first to identify the activation of ncNF-κB signaling by any polyomavirus and its critical role in MCC tumorigenesis.


Subject(s)
Antigens, Viral, Tumor/metabolism , Merkel cell polyomavirus/genetics , NF-kappa B/metabolism , Oncogenes/genetics , Polyomavirus Infections/genetics , Tumor Virus Infections/genetics , Carcinogenesis , Humans , Polyomavirus Infections/pathology , Signal Transduction , Tumor Virus Infections/pathology
5.
Ann Diagn Pathol ; 45: 151446, 2020 Apr.
Article in English | MEDLINE | ID: mdl-31978810

ABSTRACT

Primary cutaneous Rosai-Dorfman disease is a rare form of Rosai-Dorfman disease limited to the skin. The diagnosis of primary cutaneous disease is based on a combination of clinical presentation, histopathology, and the detection of S100+, CD68+, and CD1a- histiocytic immunophenotyping. However, the diagnosis of primary cutaneous disease is often difficult and significantly delayed due to the non-specific nature of its histologic and clinical features. In this review, we describe four cases in order to familiarize pathologists and dermatopathologists with the clinicopathologic correlation of primary cutaneous Rosai-Dorfman disease and to help facilitate early diagnosis. In addition, we discuss the proposed pathophysiology and molecular etiology of this tumor, and its relationship with IgG4 sclerosing disease.


Subject(s)
Histiocytosis, Sinus/metabolism , Histiocytosis, Sinus/pathology , Immunophenotyping/methods , Skin Diseases/pathology , Administration, Topical , Adult , Aged , Antigens, CD/metabolism , Antigens, CD1/metabolism , Antigens, Differentiation, Myelomonocytic/metabolism , Biopsy , Diagnosis, Differential , Emperipolesis , Female , Histiocytes/pathology , Histiocytosis, Sinus/physiopathology , Histiocytosis, Sinus/therapy , Humans , Injections, Intralesional , Lymphadenopathy/pathology , Male , Middle Aged , S100 Proteins/metabolism , Steroids/administration & dosage , Steroids/therapeutic use
7.
Wounds ; 31(9): E58-E560, 2019 Sep.
Article in English | MEDLINE | ID: mdl-31730515

ABSTRACT

INTRODUCTION: Stasis mucinosis and obesity-associated lymphedematous mucinosis (OALM) have been described as 2 discrete diagnostic entities. CASE REPORT: A morbidly obese African American man in his late 60s presented to the emergency room with a 3-month history of swelling of both lower extremities and secondary changes suggestive of lymphedema and venous dermatitis. On physical examination, the patient had severe edema with multiple raised areas of verruciform skin changes and varicosities, diffuse induration, erythema, and scaling. He also had an open wound in his left hallux. The skin biopsy found mucinosis. A diagnosis of stasis mucinosis was rendered. He had normal thyroid function test laboratory results. CONCLUSIONS: The authors suggest stasis mucinosis and OALM represent the spectrum of euthyroid mucin depositional disease in varying clinical settings.


Subject(s)
Leg Dermatoses/pathology , Lymphedema/pathology , Mucinoses/pathology , Obesity, Morbid/physiopathology , Aged , Compression Bandages , Humans , Leg Dermatoses/etiology , Lymphedema/etiology , Male , Mucinoses/etiology , Obesity, Morbid/complications , Stockings, Compression , Treatment Outcome
9.
Pediatr Dermatol ; 36(1): e41-e43, 2019 Jan.
Article in English | MEDLINE | ID: mdl-30318648

ABSTRACT

Disseminated congenital pyogenic granuloma (DCPG) is an uncommon condition. Individual lesions of DCPG share clinical and histologic similarities with infantile hemangioma (IH); endothelial glucose transporter 1 (GLUT-1), which is highly expressed in IH but generally not in pyogenic granulomas (PG), is an important diagnostic tool. Treatment for DCPG remains difficult. We describe a case of DCPG effectively treated with propranolol.


Subject(s)
Adrenergic beta-Antagonists/therapeutic use , Granuloma, Pyogenic/drug therapy , Propranolol/therapeutic use , Administration, Oral , Granuloma, Pyogenic/congenital , Humans , Infant , Male , Skin/pathology
12.
Mod Pathol ; 31(7): 1046-1063, 2018 07.
Article in English | MEDLINE | ID: mdl-29449683

ABSTRACT

Adult T-cell leukemia/lymphoma, an aggressive T-cell neoplasm, is causally linked to human T-cell lymphotropic virus type 1 and based on this association has a distinct geographic distribution. In our United States-based practice, whose population is enriched for immigrants from human T-cell lymphotropic virus type 1 endemic areas, we have identified that a subset of adult T-cell leukemia/lymphoma, in the absence of human T-cell lymphotropic virus type 1 identification, are indistinguishable from other more common T-cell neoplasms. We retrospectively gathered serology results for anti-human T-cell lymphotropic virus type 1/2 antibody in patients diagnosed with T-cell neoplasms at our institution. A total of 220 human T-cell lymphotropic virus type 1/2 positive patients with T-cell neoplasms were identified; 199 (91%) were correctly classified as adult T-cell leukemia/lymphoma or provisionally as peripheral T-cell lymphoma (serology testing pending). Twenty-one cases (9%) were initially misclassified, including the following: 13 presenting with skin +/- peripheral blood involvement and misclassified as mycosis fungoides/Sezary syndrome; 7 with lymphomatous disease, absence of leukemic involvement, and diffuse CD30 expression, misclassified as ALK- negative anaplastic large-cell lymphoma; 1 thought to represent T-prolymphocytic leukemia with TCL-1 gene rearrangement and diffuse marrow involvement. We also present an example of adult T-cell leukemia/lymphoma, which mimicked lymphoepithelioid variant of peripheral T-cell lymphoma also with diffuse marrow involvement. A subset of adult T-cell leukemia/lymphoma can closely mimic a variety of other more common T-cell neoplasms. Due to its extreme clinicopathologic heterogeneity, identification of adult T-cell leukemia/lymphoma requires a high level of suspicion based on patient demographic alone, which should prompt anti-human T-cell lymphotropic virus type 1/2 serology testing in all T-cell neoplasms developing in patients of appropriate demographic. Absence of high level of suspicion, adult T-cell leukemia/lymphoma is easily misclassified.


Subject(s)
Leukemia-Lymphoma, Adult T-Cell/diagnosis , Lymphoma, T-Cell/diagnosis , Adult , Aged , Diagnosis, Differential , Diagnostic Errors , Female , Human T-lymphotropic virus 1 , Humans , Male , Middle Aged , Retrospective Studies , United States
14.
J Cutan Pathol ; 44(7): 639-642, 2017 Jul.
Article in English | MEDLINE | ID: mdl-28419495

ABSTRACT

Nevus sebaceus of Jadassohn, a congenital cutaneous hamartoma, has the potential to develop into various epidermal adnexal-origin neoplasms. While the most common neoplasms are trichoblastoma or syringocystadenoma, proliferating trichilemmal cysts are exceptionally rare. We report a case of a 63-year-old Cuban male with a giant proliferating trichilemmal cyst arising from a nevus sebaceus on the right shoulder which had been growing for 30 years. Proliferating trichilemmal cysts arising from nevus sebaceus cases are difficult to diagnose clinically and histologically as they are very rare and have not been defined by exact diagnostic criteria. Our case creates awareness of this particular tumor in nevus sebaceus and shares clinical and histological diagnostic information that can be used to make a proper diagnosis.

15.
J Cutan Pathol ; 44(5): 470-473, 2017 May.
Article in English | MEDLINE | ID: mdl-28097676

ABSTRACT

Morbihan disease, also referred to as solid facial edema, or rosacea lymphedema, is a rare disorder that involves chronic erythema and solid edema of the cheeks, eyelids, forehead and glabella and may arise as a complication of acne vulgaris or rosacea. Of note, it may be the only initial presenting symptom of these associated diseases. Few cases have been described in the literature, as its first description by Robert Degos in 1957. The condition is characterized by its chronicity, a typical clinical appearance and the lack of specific histopathologic or laboratory findings. The condition may wax and wane but typically does not resolve without treatment. Many cases of this condition tend to be recalcitrant to therapy, with topical and oral antibiotics regimens commonly used for rosacea generally being ineffective. The disease may easily go undiagnosed, as it mimics other more common skin conditions. We present a case of originally undiagnosed Morbihan disease mistaken for an atypical allergic rash, resistant to treatment, and complicated by dermatosis neglecta.


Subject(s)
Edema , Erythema , Facial Dermatoses , Rosacea , Edema/complications , Edema/pathology , Erythema/complications , Erythema/pathology , Facial Dermatoses/complications , Facial Dermatoses/pathology , Female , Humans , Middle Aged , Rosacea/complications , Rosacea/pathology
17.
Case Rep Rheumatol ; 2016: 2812980, 2016.
Article in English | MEDLINE | ID: mdl-27529048

ABSTRACT

Tumor necrosis factor-α (TNFα) inhibitor therapy has signified an important milestone in the fight against many rheumatological disorders and inflammatory bowel disease (IBD). Cutaneous adverse events caused by this class of medications are well known but relatively uncommon. Most reactions are mild and rarely warrant treatment withdrawal. Henoch-Schönlein purpura (HSP) is a disease with cutaneous vasculitis, arthritis, and gastrointestinal and renal involvement that is usually seen in children, though the worst complications are typically seen in adults. We present a case of HSP complicating adalimumab treatment in a patient with ulcerative colitis who had achieved endoscopic remission. We review similar cases reported in the literature and discuss the consequences of these autoimmune diseases.

19.
Mod Pathol ; 29(7): 656-70, 2016 07.
Article in English | MEDLINE | ID: mdl-27102343

ABSTRACT

Atypical spitzoid tumors are a morphologically diverse group of rare melanocytic lesions most frequently seen in children and young adults. As atypical spitzoid tumors bear striking resemblance to Spitz nevus and spitzoid melanomas clinically and histopathologically, it is crucial to determine its malignant potential and predict its clinical behavior. To date, many researchers have attempted to differentiate atypical spitzoid tumors from unequivocal melanomas based on morphological, immonohistochemical, and molecular diagnostic differences. A diagnostic algorithm is proposed here to assess the malignant potential of atypical spitzoid tumors by using a combination of immunohistochemical and cytogenetic/molecular tests. Together with classical morphological evaluation, this algorithm includes a set of immunohistochemistry assays (p16(Ink4a), a dual-color Ki67/MART-1, and HMB45), fluorescence in situ hybridization (FISH) with five probes (6p25, 8q24, 11q13, CEN9, and 9p21), and an array-based comparative genomic hybridization. This review discusses details of the algorithm, the rationale of each test used in the algorithm, and utility of this algorithm in routine dermatopathology practice. This algorithmic approach will provide a comprehensive diagnostic tool that complements conventional histological criteria and will significantly contribute to improve the diagnosis and prediction of the clinical behavior of atypical spitzoid tumors.


Subject(s)
Melanocytes/pathology , Melanoma/diagnosis , Nevus, Epithelioid and Spindle Cell/diagnosis , Skin Neoplasms/diagnosis , Algorithms , Biomarkers, Tumor/metabolism , Diagnosis, Differential , Humans , Immunohistochemistry , In Situ Hybridization, Fluorescence , Melanocytes/metabolism , Melanoma/metabolism , Melanoma/pathology , Nevus, Epithelioid and Spindle Cell/metabolism , Nevus, Epithelioid and Spindle Cell/pathology , Skin Neoplasms/metabolism , Skin Neoplasms/pathology
20.
Case Rep Dermatol ; 8(3): 363-368, 2016.
Article in English | MEDLINE | ID: mdl-28101025

ABSTRACT

Giant basal cell carcinomas (GBCCs) are large basal cell carcinomas (BCCs; <5 cm) with a greater propensity to invade and metastasize than standard BCCs. The presence of 2 GBCCs in a single individual is rare. We present the case of a 71-year-old Caucasian male with bilateral GBCCs on the dorsal forearms, measuring 130 cm2 and 24 cm2, respectively, that developed over a 21-year period. Over this period, the patient treated the tumors with herbal remedies. Histologic evaluation showed a conventional nodular BCC for both tumors. Computed tomography and magnetic resonance imaging revealed a T4N0M0 stage for the larger lesion. Surgical excision and grafting and reconstruction were offered, but he declined. This case highlights a shared belief in holistic treatments and rejection of Western medical interventions that are common among many patients with GBCC. Studies reporting nonsurgical treatments for GBCCs, including radiotherapy, vismodegib, topical imiquimod, and acitretin are reviewed.

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