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1.
Public Health Nutr ; 27(1): e143, 2024 Feb 16.
Artigo em Inglês | MEDLINE | ID: mdl-38361449

RESUMO

OBJECTIVE: This study aims at comparing two Italian case studies in relation to schoolchildren's plate waste and its implications, in terms of nutritional loss, economic cost and carbon footprint. DESIGN: Plate waste was collected through an aggregate selective weighting method for 39 d. SETTING: Children from the first to the fifth grade from four primary schools, two in each case study (Parma and Lucca), were involved. RESULTS: With respect to the served food, in Parma, the plate waste percentage was lower than in Lucca (P < 0·001). Fruit and side dishes were highly wasted, mostly in Lucca (>50 %). The energy loss of the lunch meals accounted for 26 % (Parma) and 36 % (Lucca). Among nutrients, dietary fibre, folate and vitamin C, Ca and K were lost at most (26-45 %). Overall, after adjusting for plate waste data, most of the lunch menus fell below the national recommendations for energy (50 %, Parma; 79 %, Lucca) and nutrients, particularly for fat (85 %, Parma; 89 %, Lucca). Plate waste was responsible for 19 % (Parma) and 28 % (Lucca) of the carbon footprint associated with the food supplied by the catering service, with starchy food being the most important contributor (52 %, Parma; 47 %, Lucca). Overall, the average cost of plate waste was 1·8 €/kg (Parma) and 2·7 €/kg (Lucca), accounting respectively for 4 % and 10 % of the meal full price. CONCLUSION: A re-planning of the school meals service organisation and priorities is needed to decrease the inefficiency of the current system and reduce food waste and its negative consequences.


Assuntos
Pegada de Carbono , Serviços de Alimentação , Almoço , Instituições Acadêmicas , Itália , Criança , Humanos , Serviços de Alimentação/economia , Serviços de Alimentação/estatística & dados numéricos , Feminino , Masculino , Dieta/economia , Dieta/estatística & dados numéricos , Valor Nutritivo , Ingestão de Energia
2.
Am J Dermatopathol ; 46(2): 107-110, 2024 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-37982490

RESUMO

ABSTRACT: We report a very unusual case of melanocytic neoplasm appearing clinically as a 0.5-cm dome-shaped pigmented papule on the chest of a 63-year-old man. Microscopically, it was an asymmetric, entirely dermally based neoplasm characterized by a multinodular, vaguely plexiform architecture composed of moderately pleomorphic spindled melanocytes with ample, dusty pigmented cytoplasm and scattered multinucleated cells. The tumor cells were strongly positive for Melan-A, HMB45, S100, and PRAME, whereas p16 showed diffuse nuclear loss. ß-catenin presented a strong and diffuse cytoplasmic staining, while nuclei were negative. Despite an increased cellularity, mitotic count was low (1/mm 2 ). Fluorescence in situ hybridization revealed no copy number alteration in melanoma-related genes ( CDKN2A, MYB, MYC, CCND1 and RREB1 ). DNA and RNA sequencing identified KIT c.2458G>T and APC c.6709C>T mutations. No further genetic alteration was detected including TERT-promoter (TERT-p ) hot-spot mutation. A re-excision was performed. A sentinel lymph node biopsy was negative. Clinical investigations revealed no extracutaneous involvement. The patient is disease-free after a follow-up period of 8 months. Given the peculiar morphologic and molecular findings, we hypothesize the lesion may represent a novel subtype of an intermediate grade melanocytic tumor (melanocytoma).


Assuntos
Melanoma , Neoplasias Cutâneas , Masculino , Humanos , Pessoa de Meia-Idade , Neoplasias Cutâneas/patologia , Hibridização in Situ Fluorescente , Melanoma/patologia , Biópsia de Linfonodo Sentinela , Mutação , Melanócitos/patologia , Antígenos de Neoplasias
3.
Am J Dermatopathol ; 46(8): 483-491, 2024 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-38842402

RESUMO

ABSTRACT: Close relationship between melanocytes and neural cells is accepted to reflect their common derivation from the neural crest and tumors combining both elements. We present a series of 10 patients with giant congenital melanocytic nevi (CMN) in which a secondary proliferation (11 lesions) with schwannian and/or perineuriomatous differentiation developed in the course of the disease. The age of the patients (4 male and 6 female) at the time of surgery and histological assessment varied from 3 months to 57 years. Histopathologically, the following subgroups were delineated: (1) nodular/tumoriform "neurotization" in CMN, (2) diffuse neurofibroma-like proliferation within CMN, (3) plexiform neurofibroma-like proliferation within CMN, and (4) diffuse perineuriomatous (hybrid schwannomatous-perineuriomatous) differentiation in CMN. We review the pertinent literature, including the role of recently identified Schwann cell precursors which are believed to represent the nerve-associated state of neural crest-like cells that persists into later developmental stages.


Assuntos
Diferenciação Celular , Nevo Pigmentado , Células de Schwann , Neoplasias Cutâneas , Humanos , Nevo Pigmentado/patologia , Nevo Pigmentado/congênito , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/congênito , Masculino , Feminino , Lactente , Células de Schwann/patologia , Criança , Adolescente , Adulto , Pré-Escolar , Pessoa de Meia-Idade , Adulto Jovem
4.
Cesk Patol ; 60(1): 35-48, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38697826

RESUMO

Spitz tumors represent a heterogeneous group of challenging melanocytic neoplasms, displaying a range of biological behaviors, spanning from benign lesions, Spitz nevi (SN) to Spitz melanomas (SM), with intermediate lesions in between known as atypical Spitz tumors (AST). They are histologically characterized by large epithelioid and/or spindled melanocytes arranged in fascicles or nests, often associated with characteristic epidermal hyperplasia and fibrovascular stromal changes. In the last decade, the detection of mutually exclusive structural rearrangements involving receptor tyrosine kinases ROS1, ALK, NTRK1, NTRK2, NTRK3, RET, MET, serine threonine kinases BRAF and MAP3K8, or HRAS mutation, led to a clinical, morphological and molecular based classification of Spitz tumors. The recognition of some reproducible histological features can help dermatopathologist in assessing these lesions and can provide clues to predict the underlying molecular driver. In this review, we will focus on clinical and morphological findings in molecular Spitz tumor subgroups.


Assuntos
Nevo de Células Epitelioides e Fusiformes , Neoplasias Cutâneas , Humanos , Nevo de Células Epitelioides e Fusiformes/patologia , Nevo de Células Epitelioides e Fusiformes/genética , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/diagnóstico , Melanoma/patologia , Melanoma/genética , Melanoma/diagnóstico
5.
Am J Dermatopathol ; 45(2): 117-122, 2023 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-36669076

RESUMO

ABSTRACT: BAP1-inactivated melanocytic tumors represent a subset of epithelioid melanocytic neoplasms resulting from biallelic inactivation of the BAP1 gene and by a driver mutation that activate the MAP kinase pathway, most commonly BRAFV600E. They occur sporadically or, less common, in the setting of BAP1 tumor predisposition syndrome caused by a BAP1 germline mutation that predisposes to several malignancies including cutaneous and uveal melanoma. To date, only few cases of BAP1-inactivated melanomas have been reported. We present a case of a 35-year-old woman presented with a melanocytic lesion microscopically composed of 3 distinct melanocytic populations, suggesting a stepwise progression model to melanoma from a conventional nevus through a melanocytoma stage. This progression was also supported from a molecular viewpoint given BRAFV600E, BAP1, and TERT-p hot spot mutations detected by targeted mutational analysis. Four atypical melanocytic lesions were removed from the patient's back, and the same A BAP1 c.856A>T, p.(Lys286Ter) mutation was detected on either tumoral or normal tissue samples. To the best of our knowledge, this is the first case of BAP1-inactivated melanoma with a documented TERT-p hot spot mutation manifesting as the first presentation of BAP1 tumor predisposition syndrome.


Assuntos
Melanoma , Síndromes Neoplásicas Hereditárias , Nevo de Células Epitelioides e Fusiformes , Neoplasias Cutâneas , Feminino , Humanos , Adulto , Mutação em Linhagem Germinativa , Neoplasias Cutâneas/patologia , Proteínas Supressoras de Tumor/genética , Proteínas Supressoras de Tumor/metabolismo , Melanoma/patologia , Melanócitos/patologia , Mutação , Nevo de Células Epitelioides e Fusiformes/patologia , Síndromes Neoplásicas Hereditárias/patologia , Ubiquitina Tiolesterase/genética
6.
Am J Dermatopathol ; 45(5): 306-310, 2023 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-36939120

RESUMO

ABSTRACT: Spitz tumors are melanocytic neoplasms characterized by specific, mutually exclusive driver molecular events, namely genomic rearrangements involving the threonine kinase BRAF and the tyrosine kinase receptors ALK , NTRK1 , NTRK2 , NTRK3 , MET , RET , ROS1 , and MAP3K8 or less commonly, mutations in HRAS or MAP2K1 . We hereby report 5 Spitz tumors with a SQSTM1::NTRK2 fusion. All patients were woman with the ages at diagnosis ranging from 30 to 50 years. Locations included the lower extremity (n = 3), forearm, and back (one each). All the neoplasms were superficial melanocytic proliferation with a flat to dome-shaped silhouette, in which junctional spindled and polygonal dendritic melanocytes were mainly arranged as horizontal nests associated with conspicuous lentiginous involvement of the follicular epithelium. Only one case showed heavily pigmented, vertically oriented melanocytic nests resembling Reed nevus. A superficial intradermal component observed in 2 cases appeared as small nests with a back-to-back configuration. In all lesions, next-generation sequencing analysis identified a SQSTM1::NTRK2 fusion. A single case studied with fluorescence in situ hybridization for copy number changes in melanoma-related genes proved negative. No further molecular alterations were detected, including TERT-p hotspot mutations.


Assuntos
Nevo de Células Epitelioides e Fusiformes , Neoplasias Cutâneas , Feminino , Humanos , Adulto , Pessoa de Meia-Idade , Neoplasias Cutâneas/patologia , Proteína Sequestossoma-1/genética , Proteínas Tirosina Quinases/genética , Nevo de Células Epitelioides e Fusiformes/genética , Hibridização in Situ Fluorescente , Proteínas Proto-Oncogênicas/genética , Receptores Proteína Tirosina Quinases/genética
7.
Am J Dermatopathol ; 45(12): 839-842, 2023 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-37982466

RESUMO

ABSTRACT: We report an unusual case of schwannoma with glandular elements that demonstrated apocrine decapitation secretion. The glandular structures were embedded within the tumor, varied in shape and size, and were lined by a double-to-multilayered epithelium, with the inner layer composed of monomorphous cuboidal to columnar cells, focally with apocrine decapitation secretion, and the outer layer representing myoepithelial cells. A normal eccrine unit was observed near the lesion. Immunohistochemical studies showed that all luminal cells of the glandular structures stained positive for CK7, whereas myoepithelial cells expressed S100 and p63, and epithelial membrane antigen highlighted the luminal border. CK20 and neuroendocrine markers were negative in the glandular elements.Our findings suggest that the origin of the glandular elements in our case was represented by entrapped glands. Two theories may explain the epithelial hyperplasia observed in the present case as follows: the obstructive effect theory and the inductive ability of a mesenchymal proliferation to produce epidermal or adnexal changes. We suggest that, in a subset of cases, the origin of the glandular elements might represent entrapped glands, wherein their histomorphology/cytomorphology recapitulates the elements comprising the normal adjacent tissue. Further research is necessary to elucidate the histogenesis of glandular schwannoma.


Assuntos
Decapitação , Neurilemoma , Humanos , Extremidades , Células Epiteliais , Diferenciação Celular
8.
Ann Diagn Pathol ; 67: 152215, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37856952

RESUMO

Spitz tumors are melanocytic neoplasms morphologically characterized by spindled and/or epithelioid cells and specific stromal and epidermal changes associated with mutually exclusive fusion kinases involving ALK, ROS1, NTRK1, NTRK2, NTRK3, MET and RET, BRAF and MAP3K8 genes or, less commonly, HRAS mutation. RAF1 fusions have been recently detected in cutaneous melanocytic neoplasms, including conventional melanoma, congenital nevus and BAP-1 inactivated tumors. We report herewith three Spitz neoplasms with a RAF1 fusion, including a previously reported CTDSPL::RAF1 fusion and two novel PPAP2B::RAF1 and ATP2B4::RAF1 fusions. Two cases were classified as Spitz nevus, while the remaining neoplasm was classified as Spitz melanoma at the time of the diagnosis, given 9p21 homozygous deletion and positive sentinel lymph node biopsy. We suggest that RAF1 fused melanocytic neoplasms can represent a novel subgroup of Spitz tumors, with a RAF1 fusion representing an oncogenic driver.


Assuntos
Melanoma , Nevo de Células Epitelioides e Fusiformes , Neoplasias Cutâneas , Humanos , Proteínas Tirosina Quinases/genética , Homozigoto , Proteínas Proto-Oncogênicas/genética , Deleção de Sequência , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Melanoma/diagnóstico , Melanoma/genética , Melanoma/patologia , Nevo de Células Epitelioides e Fusiformes/diagnóstico , Nevo de Células Epitelioides e Fusiformes/genética , Receptores Proteína Tirosina Quinases/genética
9.
Mod Pathol ; 35(5): 664-675, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-34857909

RESUMO

BAP1-inactivated melanocytic tumor (BIMT) is a group of melanocytic neoplasms with epithelioid cell morphology molecularly characterized by the loss of function of BAP1, a tumor suppressor gene located on chromosome 3p21, and a mutually exclusive mitogenic driver mutation, more commonly BRAF. BIMTs can occur as a sporadic lesion or, less commonly, in the setting of an autosomal dominant cancer susceptibility syndrome caused by a BAP1 germline inactivating mutation. Owing to the frequent identification of remnants of a conventional nevus, BIMTs are currently classified within the group of combined melanocytic nevi. "Pure" lesions can also be observed. We studied 50 BIMTs from 36 patients. Most lesions were composed of epithelioid melanocytes of varying size and shapes, resulting extreme cytomorphological heterogeneity. Several distinctive morphological variants of multinucleated/giant cells were identified. Some hitherto underrecognized microscopic features, especially regarding nuclear characteristics included nuclear blebbing, nuclear budding, micronuclei, shadow nuclei, peculiar cytoplasmic projections (ant-bear cells) often containing micronuclei and cell-in-cell structures (entosis). In addition, there were mixed nests of conventional and BAP1-inactivated melanocytes and squeezed remnants of the original nevus. Of the 26 lesions studied, 24 yielded a BRAF mutation, while in the remaining two cases there was a RAF1 fusion. BAP1 biallelic and singe allele mutations were found in 4/22 and 16/24 neoplasms, respectively. In five patients, there was a BAP1 germline mutation. Six novel, previously unreported BAP1 mutations have been identified. BAP1 heterozygous loss was detected in 11/22 lesions. Fluorescence in situ hybridization for copy number changes revealed a related amplification of both RREB1 and MYC genes in one tumor, whereas the remaining 20 lesions studied were negative; no TERT-p mutation was found in 14 studied neoplasms. Tetraploidy was identified in 5/21 BIMTs. Of the 21 patients with available follow-up, only one child had a locoregional lymph node metastasis. Our results support a progression of BIMTs from a conventional BRAF mutated in which the original nevus is gradually replaced by epithelioid BAP1-inactivated melanocytes. Some features suggest more complex underlying pathophysiological events that need to be elucidated.


Assuntos
Nevo de Células Epitelioides e Fusiformes , Nevo Pigmentado , Nevo , Neoplasias Cutâneas , Criança , Humanos , Hibridização in Situ Fluorescente , Nevo de Células Epitelioides e Fusiformes/genética , Nevo Pigmentado/genética , Nevo Pigmentado/patologia , Proteínas Proto-Oncogênicas B-raf/genética , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Proteínas Supressoras de Tumor/genética , Ubiquitina Tiolesterase/genética
10.
Lupus ; 30(1): 125-133, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-33019879

RESUMO

Main subtypes of cutaneous lupus erythematosus are represented by acute, subacute cutaneous, intermittent and chronic cutaneous lupus erythematosus. Discoid lupus erythematosus represents the most common phenotype of chronic cutaneous lupus erythematosus. The spectrum of clinical manifestations mirrors that of several and distinct histopathological features. Such variability among different CLE subtypes is also observed at dermoscopy. Dermoscopy is nowadays considered an additional valuable method for skin lesions assessment in general dermatology, following and completing the well-known clinical diagnostic steps, such as medical history and clinical examination. In vivo reflectance confocal microscopy (RCM) is a non-invasive imaging tool able to assess the epidermis and upper dermis producing high resolution (horizontal ∼1.25 µm, vertical ∼5 µm), en face tissue sections used for melanocytic and inflammatory evaluation. In this study, we reported dermoscopic and RCM features about 9 patients affected by subacute and chronic lupus erythematosus retrospectively analyzed.


Assuntos
Dermoscopia/métodos , Lúpus Eritematoso Discoide/patologia , Microscopia Confocal/métodos , Adulto , Idoso , Biópsia , Feminino , Humanos , Lúpus Eritematoso Discoide/diagnóstico , Masculino , Pessoa de Meia-Idade
11.
Am J Dermatopathol ; 43(3): 221-224, 2021 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-33201013

RESUMO

ABSTRACT: Primary cutaneous desmoplastic melanoma (DM) is a group of rare melanocytic tumors arising on severely sun-damaged skin, histologically characterized by the proliferation of spindled melanocytes in a prominent desmoplastic stroma, with a range of morphological presentations. In this article, we report a unique case of primary cutaneous DM composed of a nodular proliferation of highly pleomorphic spindled and epithelioid cells, pseudoglandular structures, clear cell change, and unusual collagen rosettes. Immunohistochemical analysis showed a strong and diffuse positivity for S-100 protein, SOX-10, nestin, p75 (nerve growth factor receptor), WT1, and p53. Molecular analysis detected a mutation in the NF1 gene [c.4084C > T, p.(Arg1362Ter)], 2 different pathogenic mutations in TP53 [c.742C > T, p.(Arg248Trp), AF:12%, COSM1640831 and c.528C > G, p.(Cys176Trp), AF:12%, COSM11114], and a mutation in GNAS [c.601C > T, p.(Arg201Cys), AF: 9%, COSM123397]. To the best of our knowledge, this is the first case reporting collagen rosettes and pseudoglandular features in primary cutaneous DM.


Assuntos
Colágeno Tipo IV/metabolismo , Melanoma/genética , Melanoma/patologia , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Idoso de 80 Anos ou mais , Cromograninas/genética , Subunidades alfa Gs de Proteínas de Ligação ao GTP/genética , Humanos , Imuno-Histoquímica , Masculino , Melanoma/metabolismo , Mutação , Neurofibromina 1/genética , Neoplasias Cutâneas/metabolismo , Proteína Supressora de Tumor p53/genética
12.
Am J Dermatopathol ; 43(6): 412-417, 2021 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-33264134

RESUMO

ABSTRACT: Specific alterations involving MAPK genes (MAP3K8 fusions, MAP3K3 fusions) have been recently detected in a subgroup of spitzoid neoplasms that seem to constitute a distinctive clinicopathologic group, occur mostly in younger patients (median age 18 years) and present with atypical histologic features associated with frequent homozygous deletion of CDKN2A, qualifying a high proportion of them as Spitz melanoma (malignant Spitz tumor). Apart from lesions with spitzoid morphology harboring MAP3K8 or MAP3K3 fusion, a single case with MAP2K1 deletion has been identified. The authors report herein 4 melanocytic lesions with a MAP2K1 mutation, all showing similar microscopic appearances, including spitzoid cytology and dysplastic architectural features, resembling so-called SPARK nevus, suggesting that these lesions may represent another distinctive group.


Assuntos
MAP Quinase Quinase 1/genética , Melanoma/patologia , Nevo de Células Epitelioides e Fusiformes/patologia , Neoplasias Cutâneas/patologia , Adulto , Feminino , Humanos , Masculino , Melanoma/genética , Pessoa de Meia-Idade , Nevo de Células Epitelioides e Fusiformes/genética , Neoplasias Cutâneas/genética
13.
Am J Dermatopathol ; 42(3): 204-207, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31449064

RESUMO

We report a case of a polypoid atypical Spitz tumor with a prominent fibrosclerotic stromal component, harboring a CLIP2-BRAF fusion, which has hitherto been not reported in melanocytic lesions. The neoplasm occurred in a 78-year-old male patient and appeared microscopically as a predominantly dermal, barely symmetrical, polypoid lesion composed mainly of epithelioid cells showing moderate degree of nuclear pleomorphism with ample amphophilic cytoplasm arranged in nests, fascicles, or single units. The mitotic rate was 2/mm, and the mitoses were confined to the upper portion of the lesion. The Breslow thickness was 2.3 mm. The stroma contained conspicuous plumped fibroblasts and thickened collagen bundles associated with dilated medium-sized vessels. Focally, sclerotic areas were found. A moderately dense, lymphocyte-predominant inflammatory infiltrate scattered through the whole lesion was seen. Despite strong nuclear and cytoplasmic positivity of p16, FISH revealed homozygous loss in locus 9p21. A CLIP2-BRAF fusion was found by next-generation sequencing. No other genetic alterations including a TERT-promoter mutation was found. The patient is disease-free without recurrence or evidence of metastatic disease after 5 years and 2 months of follow-up.


Assuntos
Nevo de Células Epitelioides e Fusiformes/genética , Nevo de Células Epitelioides e Fusiformes/patologia , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Idoso , Aberrações Cromossômicas , Cromossomos Humanos Par 9/genética , Humanos , Masculino , Proteínas Associadas aos Microtúbulos/genética , Fusão Oncogênica , Proteínas Proto-Oncogênicas B-raf/genética
14.
Am J Dermatopathol ; 42(12): 961-966, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32769548

RESUMO

BRCA1-associated protein (BAP1)-inactivated melanocytic tumor (BIMT) is a group of epithelioid melanocytic neoplasms characterized by the loss of function of BAP1, a tumor suppressor gene located on chromosome 3p21. They occur sporadically or in the setting of an autosomal-dominant cancer susceptibility syndrome that predisposes to the development of different internal malignancies. Most of these cutaneous lesions are associated with a BRAF-mutated melanocytic nevus and therefore are included in the group of combined nevi in the last WHO classification of skin tumors. Apart from a BRAF mutation, an NRAS mutation has been reported in rare cases, whereas in some lesions no driver mutation has been detected. Here, we report 2 cases of BIMTs with a BAP1 mutation and a RAF1 fusion. Both lesions proved to be BRAF and NRAS wild type and were associated with a conventional melanocytic nevus with dysplastic junctional features. We suggest that RAF1 fusions can represent an underlying driver genetic event in these cases. Our study extends the morphological and molecular spectrum in BIMTs.


Assuntos
Biomarcadores Tumorais/genética , Fusão Gênica , Inativação Gênica , Nevo Pigmentado/genética , Proteínas Proto-Oncogênicas c-raf/genética , Neoplasias Cutâneas/genética , Proteínas Supressoras de Tumor/genética , Ubiquitina Tiolesterase/genética , Adulto , Biomarcadores Tumorais/análise , Criança , Análise Mutacional de DNA , Feminino , GTP Fosfo-Hidrolases/genética , Predisposição Genética para Doença , Humanos , Imuno-Histoquímica , Proteínas de Membrana/genética , Nevo Pigmentado/química , Nevo Pigmentado/patologia , Nevo Pigmentado/cirurgia , Fenótipo , Proteínas Proto-Oncogênicas B-raf/genética , Neoplasias Cutâneas/química , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/cirurgia
15.
Am J Dermatopathol ; 42(7): 544-546, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31972666

RESUMO

Pigmented epithelioid melanocytoma is a highly pigmented, predominantly dermal melanocytic neoplasm composed by epithelioid and spindled melanocytes. It is characterized by a limited number of specific genomic alterations principally involving protein kinase A regulatory subunit alpha (PRKAR1A) and fusion of protein kinase C alpha isoform (PRKCA). However, in some of these neoplasms, no genetic aberrations have been detected. We performed genomic analysis of a nodular heavily pigmented intradermal proliferation composed of monomorphic epithelioid melanocytes with slight cytologic atypia consisting with pigmented epithelioid melanocytoma occurring on the vulva of a 24-year-old woman. A novel fusion transcript HTT-PKN1 and an ATM (Val410Ala) missense mutation were found. No other mutations including TERT-promoter hotspot mutation analysis were detected. The data expand the spectrum of molecular alterations in pigmented epithelioid melanocytoma.


Assuntos
Melanoma/genética , Melanoma/patologia , Neoplasias Vulvares/genética , Neoplasias Vulvares/patologia , Proteínas Mutadas de Ataxia Telangiectasia/genética , Células Epitelioides/patologia , Feminino , Humanos , Proteína Huntingtina/genética , Melanócitos/patologia , Mutação de Sentido Incorreto , Fusão Oncogênica , Proteína Quinase C/genética
16.
Am J Dermatopathol ; 42(2): 92-102, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31361613

RESUMO

Spitz tumors represent a heterogeneous group of melanocytic neoplasms with a spectrum of biological behavior ranging from benign (Spitz nevus) to malignant (spitzoid melanoma). Prediction of the behavior of these lesions based on their histological presentation is not always possible. Recently, mutually exclusive activating kinase fusions, involving ALK, NTRK1, NTRK3, RET, MET, ROS1, and BRAF, have been found in a subset of spitzoid lesions. Some of these genetic alterations were associated with specific morphological features. Here, we report the histological presentation of 6 Spitz tumors with ROS1 fusion. The age of the patients ranged from 6 to 34 years, with strong female prevalence (5:1). All neoplasms were compound melanocytic proliferations with a predominant dermal growth but a conspicuous junctional component displaying atypical microscopic features qualifying them as atypical Spitz tumor. FIP1L1 and CAPRIN1 were identified as 2 novel 5'-fusion partners of ROS1 along with the known PWWP2A-ROS1 fusion. FISH for copy number changes of 9p21, 6p25, and 11q13 was negative in all but 1 neoplasm harboring isolated gain of 8q24. TERT-promoter hotspot mutation analysis was negative in all tumors. All patients are disease-free after a mean follow-up period of 30 months. It is concluded that ROS1-fused spitzoid neoplasms seem to have no distinctive histopathological features although consistent findings were spindled melanocytes arranged in confluent whorling nests, prominent transepidermal elimination of melanocytic nests, and myxoid/mucinous changes.


Assuntos
Melanoma/genética , Nevo de Células Epitelioides e Fusiformes/genética , Proteínas Tirosina Quinases/genética , Proteínas Proto-Oncogênicas/genética , Neoplasias Cutâneas/genética , Adolescente , Adulto , Proteínas de Ciclo Celular/genética , Criança , Proteínas Cromossômicas não Histona/genética , Variações do Número de Cópias de DNA , Análise Mutacional de DNA , Feminino , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Hibridização in Situ Fluorescente , Masculino , Melanoma/patologia , Nevo de Células Epitelioides e Fusiformes/patologia , Fusão Oncogênica , Neoplasias Cutâneas/patologia , Telomerase/genética , Adulto Jovem , Fatores de Poliadenilação e Clivagem de mRNA/genética
17.
Int J Mol Sci ; 18(12)2017 Nov 26.
Artigo em Inglês | MEDLINE | ID: mdl-29186863

RESUMO

Paraneoplastic pemphigus is a rare autoimmune skin disease that is always associated with a neoplasm. Usually, oral, skin, and mucosal lesions are the earliest manifestations shown by paraneoplastic pemphigus patients. The pathogenesis of paraneoplastic pemphigus is not yet completely understood, although some immunological aspects have been recently clarified. Because of its rarity, several diagnostic criteria have been proposed. Besides, several diagnostic procedures have been used for the diagnosis, including indirect immunofluorescence, direct immunofluorescence, and ELISA. We reviewed the most recent literature, searching on PubMed "paraneoplastic pemphigus". We included also papers in French, German, and Spanish. We found 613 papers for "paraneoplastic pemphigus". Among them, 169 were review papers. Because of its varying clinical features, paraneoplastic pemphigus still represents a challenge for clinicians. Furthermore, diagnosis and management of paraneoplastic pemphigus requires close collaboration between physicians, including dermatologist, oncologist, and otorhinolaryngologist.


Assuntos
Síndromes Paraneoplásicas/diagnóstico , Pênfigo/diagnóstico , Diagnóstico Diferencial , Humanos , Fatores Imunológicos/uso terapêutico , Síndromes Paraneoplásicas/etiologia , Síndromes Paraneoplásicas/terapia , Pênfigo/etiologia , Pênfigo/terapia
19.
Appetite ; 106: 48-57, 2016 11 01.
Artigo em Inglês | MEDLINE | ID: mdl-26921487

RESUMO

Foods consumed and dietary patterns are strong determinants of health status. Diet and nutrition have a key role in health promotion and maintenance during the entire lifetime, but what we choose to eat and drink greatly affects the environmental impact on ecosystems as well as monetary resources. Some studies suggest that a healthy diet with a low environmental impact is not necessarily more expensive. This paper aims to identify a healthy, greener and cheaper diet based on current consumption patterns. Dietary information was collected from 104 young adults in the last year of high school in Parma (Italy). Diet was monitored with 7-day dietary records. Subsequently, food items were decoded to obtain nutritional, economic and environmental impact data. An optimization tool based on mathematical programming (Multi-Objective Linear Programming) was used to identify sustainable diet. Three different 7-day diets were identified, based on nutrition recommendations for the healthy Italian adult population, characterized by different targets and optimizing different impacts: first the diet at the lowest cost (Minimum Cost Diet - MCD), then the Environmentally Sustainable Diet (ESD) obtained by minimizing the three environmental indicators (CO2e emissions, H2O consumption and amount of land to regenerate the resources - m(2)). Finally, the Sustainable Diet (SD) was identified by integrating environmental and economic sustainability objectives. Lastly, suggestions and recommendations for communication campaigns and other interventions to achieve sustainable diet are suggested.


Assuntos
Conservação dos Recursos Naturais , Dieta Saudável/métodos , Abastecimento de Alimentos/métodos , Política Nutricional , Energia Renovável , Adolescente , Custos e Análise de Custo , Registros de Dieta , Dieta Saudável/economia , Feminino , Abastecimento de Alimentos/economia , Humanos , Itália , Masculino
20.
Am J Dermatopathol ; 36(3): 258-9, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-23719482

RESUMO

Phrynoderma is a type of follicular hyperkeratosis located primarily on the extensor surfaces of the extremities. It is most commonly seen in Africa and Southeast Asia, where it is correlated with malnutrition; however, it is rare in developed countries, where it is often the result of malabsorption secondary to pancreatic insufficiency, colectomy, chronic giardiasis, and bariatric surgery. Here, we report a case of a 51-year-old white male patient, who presented to our Institute with a 1-year history of diffuse, reddish-brown asymptomatic papules associated with follicular nodules. In association with cutaneous symptomatology, the patient complained of also having night blindness. The patient, 4 years before, underwent a bariatric surgical treatment, which included a biliopancreatic diversion. Histologic examination of skin biopsy revealed hyperkeratosis and irregular acanthosis of the epidermis in association with dilated follicular infundibulum filled with keratinous material, whereas the laboratory investigations showed hypovitaminosis A. Based on the patient's history and cutaneous biopsy, a final diagnosis of phrynoderma was made. The steady increase of obesity in developed countries results in a relative increase in bariatric surgery. This must involve a multidisciplinary team to manage nutrition deficiencies and prevent possibly important complications, as mentioned in this report.


Assuntos
Cirurgia Bariátrica/efeitos adversos , Desvio Biliopancreático/efeitos adversos , Ceratose/etiologia , Cirurgia Bariátrica/métodos , Humanos , Ceratose/patologia , Masculino , Pessoa de Meia-Idade , Obesidade Mórbida/cirurgia , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/patologia
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