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1.
Pigment Cell Melanoma Res ; 37(1): 6-14, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-37475109

RESUMEN

We describe the first cases of pediatric melanoma with ALK fusion gene arising within giant congenital melanocytic nevi. Two newborn boys presented with large pigmented nodular plaques and numerous smaller satellite nevi. Additional expansile nodules developed within both nevi and invasive melanomas were diagnosed before 10 months of age in both boys. Oncogenic driver mutations in NRAS and BRAF were absent in both cases. Instead, oncogenic ZEB2::ALK fusion genes were identified in both the nevus and melanoma developing within the nevus. In both cases, tumors were noted by ultrasound in utero, demonstrated significant nodularity at birth, and progressed to melanoma in the first year of life suggesting that congenital nevi with ALK fusion genes may behave more aggressively than those with other mutations. As ALK kinase inhibitors are effective against a range of tumors with similar ALK fusion kinases, identifying ALK fusion genes in congenital melanocytic nevi may provide an opportunity for targeted therapy.


Asunto(s)
Melanoma , Nevo de Células Epitelioides y Fusiformes , Nevo Pigmentado , Neoplasias Cutáneas , Niño , Humanos , Lactante , Recién Nacido , Masculino , Quinasa de Linfoma Anaplásico/genética , Fusión Génica/genética , Melanoma/genética , Melanoma/patología , Nevo Pigmentado/patología , Neoplasias Cutáneas/genética , Neoplasias Cutáneas/patología
2.
Am J Dermatopathol ; 42(7): 471-480, 2020 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-32604207

RESUMEN

Calciphylaxis is a cutaneous vasculopathy with high morbidity and mortality characterized by vascular intimal fibrosis, calcification, stenosis, thrombosis, and eventual tissue death due to ischemia. Histopathologic diagnosis is often difficult, frequently necessitating multiple tissues samples due to lack of specific histopathologic features and subtle changes on biopsies of early lesions. In this study, we review the reported clinical and histopathologic features of calciphylaxis, correlating them with relevant imaging, ancillary studies, and pathophysiology. Although many histopathologic changes seen in calciphylaxis are also reported in other conditions (eg, Mönckeberg sclerosis, lupus panniculitis, pancreatic panniculitis, and peripheral artery disease), calcification of subcutaneous small vessels, thrombosis and/or ischemic changes, pseudoxanthoma elasticum-like changes in the subcutis, and perieccrine calcification may serve as helpful clues. von Kossa and Alizarin red stains can assist in the identification of subtle calcification. Netlike calcification of the affected blood vessels on imaging further supports the diagnosis. Studies into the pathophysiology of calciphylaxis are ongoing and will hopefully facilitate the development of additional diagnostic adjuncts to increase sensitivity and specificity for the diagnosis of this disease.


Asunto(s)
Calcifilaxia/diagnóstico , Calcifilaxia/patología , Humanos
4.
Acad Pathol ; 6: 2374289519857243, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31321297

RESUMEN

Despite mandates from the Accreditation Council for Graduate Medical Education and American Board of Pathology, little guidance is available for educating pathology trainees on bioethics. We endeavored to describe the development and implementation of a pathology-specific pilot curriculum in bioethics for pathology trainees at Emory University. After institutional review board review and exemption, we performed a literature search on pathology and ethics, conducted an intradepartmental survey for ethics topics relevant to our trainees and faculty, and referenced the Pathology Milestones related to ethics to develop the framework and materials for the pilot curriculum. The curriculum consisted of 2 introductory and 3 topic-focused sessions over 14 months moderated by pathology faculty with interest and expertise in ethics. Sessions included a short didactic component followed by small group discussions of cases created by the investigators. Surveys were administered to participants before and 16 months after completion of the curriculum. Twenty-nine pathology trainees participated in the curriculum. In baseline surveys, 93% (27/29) of participants believed that ethical dilemmas occur in pathology practice; 62% (18/29) reported having either experienced one or more ethical dilemmas themselves or knowing a pathologist or pathology trainee who had experienced one. In postcurriculum surveys, 87% (13/15) of respondents reported having learned something new, 92% (12/13) anticipated applying this knowledge to pathology practice, and 81% (13/16) would recommend it to a pathology trainee colleague. Limitations include single institution, small sample size, and limited outcome measures for ethics education. Our curriculum may serve as a model for other pathology training programs.

6.
AMA J Ethics ; 18(8): 809-16, 2016 Aug 01.
Artículo en Inglés | MEDLINE | ID: mdl-27550565

RESUMEN

Since the 1990s, the fields of anatomic and clinical pathology have made strong commitments to improving patient safety, including the creation of formal and informal guidelines for assessing and reporting quality lapses. Unfortunately, some medical errors are inevitable. Patient safety experts advocate full and complete disclosure of all serious medical errors in an effort to preserve the patient-physician relationship and minimize the risk of harm to patients. While evidence suggests that most pathologists disclose serious medical errors, many do not disclose such errors to patients. A literature review of articles published on diagnostic error disclosure in pathology and laboratory medicine suggests that there are in fact persistent barriers to the disclosure of diagnostic errors that are specific to pathology. A number of these barriers are considered here, followed by recommendations for improving patient safety in pathology.


Asunto(s)
Servicios de Laboratorio Clínico/ética , Comunicación , Errores Diagnósticos , Patología Clínica , Seguridad del Paciente , Relaciones Médico-Paciente , Revelación de la Verdad , Ética Médica , Humanos , Laboratorios , Patología Clínica/ética , Revelación de la Verdad/ética
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