Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 9 de 9
Filtrar
1.
Am J Dermatopathol ; 41(11): 799-806, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30839340

RESUMO

Primary systemic amyloidosis has a varied clinical presentation, making it one of the great masqueraders of other disease entities in clinical medicine. The association of amyloidosis with alopecia is uncommon with at least 22 cases reported in the literature mostly in the setting of systemic amyloidosis. Alopecia in these patients occurs either as the initial presentation of the systemic amyloidosis or it happens during the disease course. The occurrence of amyloid alopecia associated with light chain (LC) restricted plasmacytic infiltrates in the absence of systemic amyloidosis, however, it is not well known. We report 3 cases of LC-associated amyloidosis presenting with alopecia, whereby there was evidence of a systemic plasma cell dyscrasia in 2 of the patients, one of whom developed multiple myeloma. None of the patients had systemic amyloidosis. Skin presentation in the patient with multiple myeloma was characterized by a diffuse form of alopecia affecting the entire scalp, eyebrow, and axillary and pubic hair in contrast to the localized form of alopecia noted in the other 2 patients. The mechanism by which LC-associated amyloidosis eventuates in this pattern of nonscarring alopecia potentially reflects the affinity of this form of amyloid for dermatan sulfate. Dermatan sulfate is found at highest concentrations within the adventitial dermis of the superficial to mid isthmic portions of the anagen hair follicles likely interfering with the hair cycle and induces early hair follicle involution. The result is a pattern of alopecia that can clinically and to some extent pathologically resemble either androgenetic alopecia or alopecia areata.


Assuntos
Alopecia/etiologia , Amiloidose/complicações , Alopecia/patologia , Amiloidose/patologia , Feminino , Humanos , Pessoa de Meia-Idade
2.
Ann Diagn Pathol ; 30: 59-65, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28302385

RESUMO

Interdigitating dendritic cell sarcoma (IDS) is a rare form of hematologic malignancy associated with an aggressive clinical course. Only 4 prior cases have been described as originating in the skin. We encountered two male patients ages 47 and 61years of age who presented with solitary cutaneous neoplasms diagnosed as IDS. Histologic exam showed a coalescing nested and multinodular proliferation of large pleomorphic epithelioid cells. In one case an initial diagnosis of melanoma was rendered. A recurrence 8months later was then interpreted as a primary cutaneous IDS. This patient died of widespread metastatic disease within 2years from his initial surgery. The other patient has recently undergone wide excision and radiation without any recurrence or metastatic disease during this short follow up time period. Both patients had a tumor exhibiting the same phenotypic profile comprising leukocyte common antigen, SOX10, S100, CD68, and CD163 positivity. In reviewing the 4 other reported cases, there is a similar older male predominance (mean age of 58years) although women affected were significantly younger (mean age of 28years); there was a predilection for the proximal extremities and the face. Patients treated with excision only developed recurrent disease with one patient subsequently dying of metastatic disease. Primary cutaneous IDS is a highly aggressive hematologic malignancy that has many overlapping features with poorly differentiated epithelioid and spindle cell melanoma including SOX10 staining. An aggressive treatment protocol at the beginning could optimize patient survival.


Assuntos
Biomarcadores Tumorais/metabolismo , Sarcoma de Células Dendríticas Interdigitantes/diagnóstico , Melanoma/diagnóstico , Neoplasias Cutâneas/diagnóstico , Sarcoma de Células Dendríticas Interdigitantes/metabolismo , Sarcoma de Células Dendríticas Interdigitantes/patologia , Células Dendríticas/metabolismo , Células Dendríticas/patologia , Humanos , Masculino , Melanoma/patologia , Pessoa de Meia-Idade , Pele/metabolismo , Pele/patologia , Neoplasias Cutâneas/metabolismo , Neoplasias Cutâneas/patologia
3.
Int J Cancer ; 124(6): 1349-57, 2009 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-19101990

RESUMO

The light microscopic distinction between complex atypical hyperplasia (CAH) and invasive endometrioid carcinoma (UEC) on endometrial sampling is problematic and often has significant clinical implications. Using mouse models of endometrial tumorigenesis based on two of the most common molecular alterations found in primary human UEC we sought to characterize the transition from CAH to carcinoma to identify clinically useful biomarkers. We used the previously described Pten(+/-); Mlh1(-/-) mouse model. DNA was isolated from microdissected lesions (CAH and carcinoma) and analyzed for LOH and mutations of Pten and additional candidate genes. To identify novel candidate genes associated with invasion, global gene expression profiles were compared from uteri with extensive CAH and carcinoma. The majority of CAHs and carcinomas, arising in this model showed biallelic inactivation of Pten mediated through LOH or intragenic mutation of the wild-type allele suggesting that complete loss of Pten is insufficient for the development of carcinoma. The global gene expression studies detected increased expression of oviduct-specific glycoprotein (OGP) in carcinoma as compared with CAHs. This finding was validated using immunohistochemical staining in a collection of primary human UECs and CAHs. Our studies identify a molecular marker for invasive endometrial cancer that may have clinical significance, and highlight the usefulness of this mouse model in not only understanding the genetic underpinnings of endometrial carcinoma, but as a tool to develop clinically relevant biomarkers.


Assuntos
Neoplasias do Endométrio/patologia , Tubas Uterinas/patologia , Invasividade Neoplásica/patologia , Metástase Neoplásica/patologia , Proteínas Adaptadoras de Transdução de Sinal/deficiência , Proteínas Adaptadoras de Transdução de Sinal/genética , Animais , Biomarcadores Tumorais/análise , Análise Mutacional de DNA , Primers do DNA , Modelos Animais de Doenças , Éxons , Feminino , Genótipo , Perda de Heterozigosidade , Camundongos , Camundongos Knockout , Proteína 1 Homóloga a MutL , Proteínas Nucleares/deficiência , Proteínas Nucleares/genética , PTEN Fosfo-Hidrolase/deficiência , PTEN Fosfo-Hidrolase/genética
4.
J Cutan Pathol ; 35(11): 1032-9, 2008 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-18681861

RESUMO

BACKGROUND: The primary function of regulatory T cells (Treg cells) is to regulate the function and proliferation of immunologically responsive T cells; the transcription factor Foxp3 is expressed by this cell populace and is held to be the standard marker for Treg cells. DESIGN: A variety of cutaneous T-cell lymphocytic infiltrates were evaluated for Foxp3 expression. RESULTS: Of the 95 cases, 33 (35%) were reactive, 40 (42%) were prelymphomatous cutaneous T-cell dyscrasia and 22 were (23%) T-cell lymphoma. The reactive category included dermatomyositis, lupus erythematosus, hypersensitivity reactions and graft-vs.-host disease. The prelymphomatous dyscrasia category was represented chiefly by pityriasis lichenoides chronica (PLC) and pigmented purpuric dermatosis (PPD). The Foxp3 reactivity was less than 10% for cases of dermatomyositis and lupus erythematosus, 23% for hypersensitivity cases, 0% for graft-vs.-host disease, 16% for the dyscrasias and 11% for the lymphomas. Intermediate grade and aggressive lymphomas had very few Foxp3+ cells (< 5%). There were fewer numbers of Foxp3+ T cells in the monoclonal variants of PLC and PPD. CONCLUSIONS: T-reg cells may play a role in controlling the extent of T-cell proliferations in the skin with a lack of T-regulatory function permissive to the development of various T-cell disorders.


Assuntos
Fatores de Transcrição Forkhead/metabolismo , Infiltração Leucêmica , Linfoma de Células T/patologia , Pele/metabolismo , Linfócitos T Reguladores/patologia , Biomarcadores Tumorais/metabolismo , Dermatomiosite/metabolismo , Dermatomiosite/patologia , Fatores de Transcrição Forkhead/genética , Doença Enxerto-Hospedeiro/metabolismo , Doença Enxerto-Hospedeiro/patologia , Humanos , Hipersensibilidade/metabolismo , Hipersensibilidade/patologia , Técnicas Imunoenzimáticas , Lúpus Eritematoso Cutâneo/metabolismo , Lúpus Eritematoso Cutâneo/patologia , Linfoma de Células T/metabolismo , Pitiríase Liquenoide/metabolismo , Pitiríase Liquenoide/patologia , Reação em Cadeia da Polimerase , Estudos Prospectivos , Púrpura/metabolismo , Púrpura/patologia , Pele/patologia , Linfócitos T Reguladores/metabolismo
5.
Clin Cancer Res ; 12(20 Pt 1): 5932-5, 2006 Oct 15.
Artigo em Inglês | MEDLINE | ID: mdl-17062663

RESUMO

PURPOSE: The tumor suppressor PTEN gene and the PIK3CA oncogene are frequently mutated in uterine endometrioid carcinoma (UEC). PTEN mutations are also common in complex atypical hyperplasia (CAH), the precursor lesion of UEC. The status of PIK3CA has not yet been explored in CAH. In this study, we evaluated both CAH and UEC for PTEN and PIK3CA mutations. EXPERIMENTAL DESIGN: Neoplastic tissue was microdissected, and DNA was extracted from 29 cases of CAH. DNA was available from 44 UEC cases previously characterized for PTEN mutations. Direct DNA sequencing of exons 9 and 20 of the PIK3CA gene was done on all 73 cases. In addition, CAH cases were analyzed for PTEN mutations. Statistical analyses were done using the Fisher's exact test. RESULTS: Two (7%) of 29 CAH and 17 (39%) of 44 UEC cases contained a PIK3CA mutation (P = 0.003). Fourteen (48%) of 29 CAH cases had a PTEN mutation, but none contained both a PTEN and PIK3CA mutation. Twenty-five (57%) of 44 UEC cases had a PTEN mutation, and 12 (48%) of these 25 cases also contained a PIK3CA mutation. Coexistent PIK3CA and PTEN mutations were significantly correlated with UEC compared with CAH (P = 0.002), but the association in UEC did not reach statistical significance (P = 0.21). CONCLUSIONS: PIK3CA is the most commonly mutated oncogene in UEC; however, mutations are uncommon in CAH. Thus, mutations in PIK3CA, unlike PTEN mutations, are associated with invasion. These findings suggest that mutations in PIK3CA may serve as a marker of invasion with potential clinical use. Furthermore, PIK3CA and PTEN mutations may play distinct roles in endometrial tumorigenesis.


Assuntos
Neoplasias do Endométrio/genética , Endométrio/patologia , PTEN Fosfo-Hidrolase/genética , Fosfatidilinositol 3-Quinases/genética , Classe I de Fosfatidilinositol 3-Quinases , DNA de Neoplasias/genética , DNA de Neoplasias/isolamento & purificação , Feminino , Humanos , Hiperplasia , Mutação , Neoplasias Uterinas/genética
6.
Arch Pathol Lab Med ; 131(1): 145-8, 2007 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-17227116

RESUMO

Nephrogenic systemic fibrosis, previously known as nephrogenic fibrosing dermopathy, is a newly recognized systemic fibrosing disorder primarily affecting patients with chronic renal failure. Patients with skin involvement often develop papules and plaques with peau d'orange surface changes. The lower extremities and trunk are most commonly affected. The most important histologic differential diagnosis is with scleromyxedema. To our knowledge, we report the first case of nephrogenic systemic fibrosis involving the breasts of a 61-year-old woman with end-stage renal disease, clinically mimicking inflammatory breast carcinoma. We propose that nephrogenic systemic fibrosis be considered in the differential diagnosis as a rare possibility when cutaneous changes in the breast suggest inflammatory breast carcinoma in a patient with renal failure.


Assuntos
Neoplasias da Mama/diagnóstico , Neoplasias da Mama/patologia , Falência Renal Crônica/complicações , Dermatopatias/diagnóstico , Dermatopatias/patologia , Biópsia , Diagnóstico Diferencial , Feminino , Fibrose , Humanos , Inflamação , Falência Renal Crônica/patologia , Pessoa de Meia-Idade , Escleromixedema/diagnóstico , Escleromixedema/patologia , Dermatopatias/etiologia
7.
Arch Pathol Lab Med ; 130(10): 1548-51, 2006 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-17090200

RESUMO

We report a case of hepatic inflammatory myofibroblastic tumor in a 26-year-old African American man who presented with right upper quadrant pain, weight loss, and fatigue during the previous year. Hepatomegaly was found on physical examination. Laboratory findings were significant for mild normocytic, normochromic anemia and elevated erythrocyte sedimentation rate. Imaging studies showed 2 contiguous masses suspicious for malignancy. A left partial hepatectomy was performed; the preoperative differential diagnosis was for angiosarcoma and hepatocellular carcinoma. The resected liver specimen showed 2 contiguous, firm, tan-white nodules that microscopically represented a proliferation of spindled myofibroblast cells set in an inflammatory and collagenized background. The spindle cells were strongly reactive for smooth muscle actin but negative for ALK-1. The morphologic and immunophenotypic findings, coupled with the clinical presentation, were consistent with an inflammatory myofibroblastic tumor of the liver.


Assuntos
Neoplasias Hepáticas/patologia , Neoplasias de Tecido Muscular/patologia , Actinas/metabolismo , Adulto , Diagnóstico Diferencial , Hepatectomia , Hepatomegalia/etiologia , Humanos , Imuno-Histoquímica , Imunofenotipagem , Inflamação/metabolismo , Inflamação/patologia , Neoplasias Hepáticas/complicações , Neoplasias Hepáticas/metabolismo , Neoplasias Hepáticas/cirurgia , Imageamento por Ressonância Magnética , Masculino , Músculo Liso/metabolismo , Neoplasias de Tecido Muscular/complicações , Neoplasias de Tecido Muscular/metabolismo , Neoplasias de Tecido Muscular/cirurgia
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA