Abstract:
:Pigment-synthesizing melanoma (PSM) describes a morphologically and genetically diverse group of melanomas. In contrast, pigmented epithelioid melanocytoma (PEM) encompasses a spectrum of indolent tumors now classified as borderline/intermediate melanocytic tumors. Herein, we report a case of widely metastatic heavily pigmented epithelioid melanoma with fatal outcome in a 36-year-old woman. Next-generation sequencing identified somatic (tumoral) mutations in BRAF V600E, PTEN, NOTCH1, and ERBB3. By contrast, GNAQ and GNA11 were wild type. Prkar1α and p16 expression were maintained. Identification of mutations in NOTCH1 and ERBB3 may support the diagnosis of heavily pigmented epithelioid melanoma. In contrast, PRKCA fusion genes and PRKAR1A mutations support the diagnosis of PEM. Given the heterogeneity, potential overlap (loss of Prkar1α expression), and evolving genetic profiles of these two distinct groups of tumors, careful appraisal of molecular profiles in the light of histomorphology and clinical history is necessary for distinction between PEM and PSMs including heavily pigmented epithelioid melanomas, with significant potential impact on prognosis and therapy.
journal_name
J Cutan Patholjournal_title
Journal of cutaneous pathologyauthors
Motaparthi K,George EV,Guo Rdoi
10.1111/cup.13485subject
Has Abstractpub_date
2019-08-01 00:00:00pages
613-618issue
8eissn
0303-6987issn
1600-0560journal_volume
46pub_type
abstract::A 48 year-old white male with basal cell nevus syndrome presented with a metastatic basal cell carcinoma with neuroendocrine features. The tumor manifested aggressive behavior, having deep local invasion and metastases to para-aortic lymph nodes and bone. Neuroendocrine differentiation has rarely been associated with ...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.1999.tb01849.x
更新日期:1999-07-01 00:00:00
abstract::Imiquimod (AldaraTM), a Toll-like receptor 7 agonist (TLR7), is known for its unique properties of being an immune response modifier and stimulator. Upon topical application, this TLR7 agonist triggers a cell-mediated immune response predominantly expressed by dendritic cells and monocytes. Local skin irritation at th...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.2010.01592.x
更新日期:2011-04-01 00:00:00
abstract::Cutaneous mastocytosis is a disease characterized by the infiltration and proliferation of mast cells in the skin. In children, the most common form of presentation is urticaria pigmentosa, while the diffuse cutaneous bullous mastocytosis is one of the rarest subtypes seen. The aim of this paper is to present a case o...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/cup.12635
更新日期:2016-03-01 00:00:00
abstract::The histological picture of molluscum contagiosum (MC) is well known: the epidermis grows down into the dermis as multiple, closely packed pear-shaped lobules. The epithelial cells of the outermost layers and the horny layer display typical molluscum bodies. In this paper, we describe an unusual case of MC in a cystic...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.1985.tb01618.x
更新日期:1985-04-01 00:00:00
abstract:BACKGROUND:The cell origin of dermatofibroma (DF) has not been clarified satisfactorily. This study was undertaken to assess the distribution of fibroblasts and the relationship between fibroblasts and other constituent cells in DF by 47-kDa heat-shock protein (HSP47), a cell marker for skin fibroblast. METHODS:Immuno...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.2007.00768.x
更新日期:2008-01-01 00:00:00
abstract::Although the histogenesis of sebaceous carcinomas remains unclear, the occurrence of intraepidermal or intraepithelial sebaceous carcinoma in the epidermis or conjunctiva may suggest de novo histogenesis. This report describes a case of sebaceous carcinoma within preexisting rippled/carcinoid pattern sebaceoma. This l...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/cup.12575
更新日期:2016-01-01 00:00:00
abstract::Two cases of tubular apocrine adenoma were studied by light, histochemical, and electron microscopic methods. This benign apocrine hamartoma must be considered in the classification of appendage tumors, particularly those associated with organoid epithelial nevus, and may be confused with metastatic adenocarcinoma. Th...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.1976.tb00850.x
更新日期:1976-01-01 00:00:00
abstract:BACKGROUND:Among nonepithelial second neoplasms which are known to be induced by irradiation, rhabdomyosarcomas are extremely rare, and melanomas are infrequent. We report a high-grade sarcoma with rhabdomyoblastic differentiation, which appeared 30 years after megavoltage irradiation for an endometrial adenocarcinoma,...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1034/j.1600-0560.2000.027008419.x
更新日期:2000-09-01 00:00:00
abstract::Thirty-six Swedish patients with the recessively inherited Sjögren-Larsson syndrome (SLS) were examined by histopathologic and, in some cases, morphometric techniques. Skin biopsy specimens were taken on the volar side of the right forearm below the cubital fossa. The histopathological picture was characterized by a m...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.1982.tb01075.x
更新日期:1982-12-01 00:00:00
abstract::White sponge nevus (WSN) is an uncommon benign inherited disorder characterized by white and diffuse painless lesions in oral, esophageal, or genital mucosa. The lesions may develop at birth or later in childhood or adolescence, with careful clinical examination being sufficient for diagnosis in most cases. However, m...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/cup.13581
更新日期:2020-01-01 00:00:00
abstract:BACKGROUND:Even though only 33 cases of Erythromelanosis follicularis faciei et colli (EFFC) have been reported around the world, there have been no quantitative clinicopathological studies yet. The purpose of this study is to examine quantitatively clinical and histopathological evaluations of EFFC using image analysi...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1034/j.1600-0560.2001.028003160.x
更新日期:2001-03-01 00:00:00
abstract::Perifollicular fibroma is a cutaneous hamartomatous proliferation of the pilar connective tissue sheath. We describe a patient with multiple perifollicular fibromas and analyze the literature on this topic. Histologically, perifollicular fibroma is characterized by a concentric arrangement of collagen fibers surroundi...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章,评审
doi:10.1111/j.1600-0560.1994.tb00291.x
更新日期:1994-10-01 00:00:00
abstract::Dermatofibrosarcoma protuberans is a low-grade sarcoma of the skin with well characterized clinical and histopathological features. The lesion frequently appears as a plaque on the trunk or on the extremities of middle-aged adults. Microscopically, the tumor is composed of monomorphous spindle cells arranged in storif...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.1998.tb01771.x
更新日期:1998-09-01 00:00:00
abstract::Biologic therapies targeting tumor necrosis factor (TNF)-alpha have become a mainstay in the management of a number of autoimmune diseases. We report a series of adverse skin eruptions in six patients (four females, two males, age: 21-58 years, mean: 39) receiving 4 months to 10 years (mean 3.1 years) of anti-TNF-alph...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.2012.01894.x
更新日期:2012-05-01 00:00:00
abstract::Spontaneous regression (SR) of cancer is a rare but well-documented biological phenomenon, which is even rarer in the context of metastatic breast carcinoma. Different mechanisms of SR are still under debate, including immune-mediated response. We herein report a case of the SR of intralymphatic cutaneous metastases o...
journal_title:Journal of cutaneous pathology
pub_type:
doi:10.1111/cup.13694
更新日期:2020-08-01 00:00:00
abstract::Immunohistochemical properties were studied in 16 lesions from 11 patients with chordoma involving the skin. There were nine men and two women ranging from 21 to 62 years old (mean, 42.6). The initial tumor was sacrococcygeal in 10 cases and nasopharyngeal in 1 case. Three lesions represented a direct extension from t...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.1992.tb01599.x
更新日期:1992-12-01 00:00:00
abstract::A case of eosinophilic ulcer of the tongue is presented. Although the entity is rarely described, the distinctive histopathologic pattern featuring the remarkable presence of eosinophils in the superficial corium and in between muscle bundles, together with the benign clinical course, make a diagnosis possible. ...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.1984.tb00385.x
更新日期:1984-08-01 00:00:00
abstract::The so-called perivascular epithelioid cell neoplasm (PEComa) family includes angiomyolipoma, clear cell 'sugar' tumor (CCST), lymphangioleiomyomatosis, and clear cell myomelanocytic tumor (CCMMT). These rare tumors are characterized by the co-expression of melanocytic and muscle markers. They have been recognized in ...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.0303-6987.2005.00347.x
更新日期:2005-07-01 00:00:00
abstract:BACKGROUND:BRAF, a serine/threonine kinase, is a component of the retrovirus-associated sequence (RAS)-RAF-extracellular-regulated protein kinase (ERK)-MAP kinase signal transduction pathway mediating signals from RAS to ERK. The T1796A single point mutation in exon 15 of the BRAF gene has recently been reported in a h...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.0303-6987.2003.00179.x
更新日期:2004-03-01 00:00:00
abstract::Dermatofibrosarcoma protuberans (DFSP) is a rare soft tissue tumor that arises primarily on the trunk and extremities but seldom on the scalp. Several variants of DFSP have been described, including myxoid DFSP. Although typical DFSP may have focally myxoid areas, myxoid DFSP, in which most of the stroma is myxoid, is...
journal_title:Journal of cutaneous pathology
pub_type:
doi:10.1111/cup.13130
更新日期:2018-06-01 00:00:00
abstract:BACKGROUND:Primary cutaneous apocrine cribriform carcinoma (PCACC) is a rare tumor, clinically appearing as a solitary nodule, mostly involving extremities of females and this lesion usually raises a differential diagnosis with metastatic cribriform carcinomas, especially breast cancer. OBJECTIVE:To study GATA3 expres...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/cup.13124
更新日期:2018-05-01 00:00:00
abstract::Many patients who present with patch and early plaque stage mycosis fungoides follow an indolent course and survive for many years following diagnosis. A certain subset of patients, however, have rapidly progressive disease leading to accelerated demise. We examined 21 histologic sections from initial biopsies taken f...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.1998.tb01751.x
更新日期:1998-07-01 00:00:00
abstract::We report a 2-year-old girl with developmental delay who, from the age of 1 year, developed perniotic lesions of the hands and feet initially diagnosed as chilblain lupus. Histological examination showed features of epidermal necrosis with intraepidermal bulla formation, interface dermatitis, lymphocytic vasculitis wi...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.2007.00900.x
更新日期:2008-08-01 00:00:00
abstract:BACKGROUND:Among the pigmented lesions with a central area of scar, we found a group of cases histologically characterized by striking architectural alteration of the melanocytic component, but with no cytological atypia and mitotically quiescent. The aim of the current study was to assess the biological nature of such...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.2007.00941.x
更新日期:2008-11-01 00:00:00
abstract:BACKGROUND:Diagnosis of autoantibody- and immune complex-induced skin diseases is primarily based on direct immunofluorescence (DIF) microscopy. DIF staining is usually performed manually and, therefore, is labor intensive. The quality of immunohistochemical results considerably depends on the experience of the person ...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/cup.12637
更新日期:2016-03-01 00:00:00
abstract::Typical pustular lesions of impetigo herpetiformis were examined by electron microscopy. In the upper layers of the epidermis degenerated keratinocytes and neutrophils lay close together and amorphous substances were seen within and outside the keratinocytes. Neutrophiles were not observed within the keratinocytes. Th...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.1976.tb00844.x
更新日期:1976-01-01 00:00:00
abstract::Amyloidosis cutis dyschromica represents a rare type of primary cutaneous amyloidosis with few reported cases worldwide. It is characterized by asymptomatic, generalized hyperpigmentation with intermingled hypopigmented macules without atrophy or telangiectasia. We report herein a 19-year-old female who developed this...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.2011.01701.x
更新日期:2011-10-01 00:00:00
abstract::The nuclei of spindle and epithelioid cell nevus (SECN) cells often contain inclusions. To determine the origin and pathogenesis of the nuclear inclusions, 12 cases of SECN were electron microscopically examined. True inclusions, pseudoinclusions, and electron-lucent areas were frequently found in the nuclei of SECN c...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.1990.tb00061.x
更新日期:1990-04-01 00:00:00
abstract::Psoriasis is characterized by immune activation, increased proliferation and abnormal differentiation of keratinocytes. The reported anti-psoriatic mechanisms of action in vivo of vitamin D analogues include reduction of keratinocyte proliferation and induction of keratinocyte terminal differentiation. We investigated...
journal_title:Journal of cutaneous pathology
pub_type: 杂志文章
doi:10.1111/j.1600-0560.1996.tb01431.x
更新日期:1996-10-01 00:00:00
abstract::Immunotherapies targeting cytotoxic T-lymphocyte-associated antigen 4 (CTLA-4) and the programmed cell death 1 (PD-1) receptor and its ligand (PD-L1) have showed significant therapeutic benefit in patients with clinically advanced solid malignancies, including melanoma. However, immune-related adverse events (irAE) ar...
journal_title:Journal of cutaneous pathology
pub_type:
doi:10.1111/cup.13150
更新日期:2018-07-01 00:00:00