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1.
J Cutan Pathol ; 46(11): 852-857, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31206729

RESUMO

Germline mutations in BRCA1-associated protein 1 (BAP1) are associated with several neoplasms, including BAP1-inactivated melanocytic tumors (BIMTs). BIMTs are classically described as biphenotypic melanocytic proliferations with BAP1-deficient large epithelioid and rhabdoid melanocytes showing various degrees of cytologic atypia. This morphology has been traditionally classified as "spitzoid" despite the various differences between these lesions and the more classic Spitz nevi. Herein, we report a case of an otherwise healthy 11-year-old female patient with a family history of several malignancies who presented with multiple pink to brown papules. Histologic and immunohistochemical evaluation identified three lesions with loss of nuclear BAP1 staining. The histologic spectrum of these lesions included junctional spitzoid cells within a triphenotypic proliferation and a separate lesion composed entirely of dermal small to medium-sized epithelioid melanocytes with maturation. BAP1 gene sequencing revealed a germline frameshift pathogenic BAP1 mutation, denoted c.1717delC. This case provides further evidence that not all BIMTs conform to classic morphological criteria and that the morphologic spectrum includes lesions resembling conventional nevi. As BIMTs can serve as an early marker of the BAP1 hereditary tumor predisposition syndrome, we believe a need exists for a more comprehensive combined clinical and pathological approach for BIMT identification.


Assuntos
Mutação em Linhagem Germinativa , Melanócitos , Síndromes Neoplásicas Hereditárias , Nevo de Células Epitelioides e Fusiformes , Neoplasias Cutâneas , Proteínas Supressoras de Tumor , Ubiquitina Tiolesterase , Criança , Feminino , Humanos , Melanócitos/metabolismo , Melanócitos/patologia , Síndromes Neoplásicas Hereditárias/genética , Síndromes Neoplásicas Hereditárias/metabolismo , Síndromes Neoplásicas Hereditárias/patologia , Nevo de Células Epitelioides e Fusiformes/genética , Nevo de Células Epitelioides e Fusiformes/metabolismo , Nevo de Células Epitelioides e Fusiformes/patologia , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/metabolismo , Neoplasias Cutâneas/patologia , Proteínas Supressoras de Tumor/genética , Proteínas Supressoras de Tumor/metabolismo , Ubiquitina Tiolesterase/genética , Ubiquitina Tiolesterase/metabolismo
2.
Int J Surg Pathol ; 31(6): 949-956, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35971290

RESUMO

Background. Frozen sections (FS) are common in neurosurgery to address varied clinical concerns. Artifacts in central nervous system (CNS) FS can be severe and affect or hinder interpretation. We performed a case-control study using a semiquantitative scale: the Histologic Preservation Score (HPS), and a quantitative scale: the Ice Crystal Vacuolization Score (ICVS), to compare the histologic quality yielded by snap- versus cryostat freezing techniques. Material and Methods. All specimens were sectioned in 2 halves, one half was used for FS and the other for permanent evaluation. HPS assigns a distortion score to the FS sample using the non-frozen half as the comparator: 1 = minimal, 2 = slight, 3 = moderate, 4 & 5 = severe. The ICVS is the average size in µm of the 5 largest vacuoles/0.05 mm2, evaluated on digitized slides. Results. 86 CNS-FS were collected: 22 snap- and 64 cryostat-FS. Significant differences in HPS: 2.28 versus 2.84 (p <0.05) and ICVS 7.47 versus 14.56 (p < 0.001) were obtained for snap- versus cryostat-FS, respectively. HPS and ICVS showed a strong correlation: R2 = 0.63, p < 0.0001. Histologic distortion was worse for neuroglial than mesenchymal tissue by both methods; however, a significant difference was only observed in cryostat-FS: HPS: 3.23 versus 2.33, p < 0.001; ICVS: 16.86 µm versus 10.26 µm, p < 0.001. Conclusion. Snap-FS yields better histologic quality than cryostat-FS for CNS-FS, and the difference is more pronounced in neuroglial samples. HPS and ICVS correlate strongly, indicating that the histologic quality is inversely proportional to water-crystallization. These results may apply to other areas of surgical pathology.


Assuntos
Procedimentos Neurocirúrgicos , Patologia Cirúrgica , Humanos , Estudos de Casos e Controles , Secções Congeladas , Encaminhamento e Consulta , Patologia Cirúrgica/métodos
3.
Access Microbiol ; 2(9): acmi000156, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33195985

RESUMO

Infection with Histoplasma capsulatum typically manifests as a self-limiting pulmonary disease in immunocompetent patients. Systemic symptoms such as cutaneous lesions are associated with immunodeficient states. Our patient was an immunocompetent 68-year-old male who presented with a plaque on his left infraorbital area that was concerning for malignancy. Histological examination of the lesion revealed granulomatous inflammation and small yeast forms suggestive of H. capsulatum. The lesion resolved spontaneously and recurred 1 year later. On recurrence, histological examination again revealed yeast forms consistent with H. capsulatum. Serum and urine testing for H. capsulatum antigen were negative. Next-generation sequencing detected H. capsulatum, which supported the diagnosis of a cutaneous infection. The patient was prescribed and started treatment with itraconazole for 1 year after recurrence of the lesion, and he has not reported further disease recurrence to date. This case is unique because of the presentation of a primary cutaneous recurrent H. capsulatum lesion, and it demonstrated the utility of laboratory testing in its diagnosis.

4.
J Forensic Sci ; 63(1): 309-311, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-28464324

RESUMO

This report provides an overview of the injuries caused by a unique blade-type weapon known as a cane sword. The cane sword usually consists of a blade that is stored in a cylindrical "cane" that can be released at the handle to reveal the hidden blade within. The victim of the case was found to have a stab wound in the left mid-back that caused perforation of both the lower and upper lobes of the left lung, resulting in a left hemothorax. Upon autopsy, it was concluded that the patient died from injuries caused by the stab wound to the back. Given the shape of the wound and the fact that the weapon itself was found at the site of the homicide, the weapon that caused the injury was believed to be a cane sword. This case will inform forensic pathologists, law-enforcement officers, emergency medical personnel, and physicians about rare weapon, the cane sword.


Assuntos
Bengala , Armas , Ferimentos Perfurantes/patologia , Adulto , Patologia Legal , Homicídio , Humanos , Masculino
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