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1.
Am J Hum Genet ; 103(1): 163-165, 2018 Jul 05.
Artigo em Inglês | MEDLINE | ID: mdl-29979981
2.
Per Med ; 15(3): 199-208, 2018 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-29843583

RESUMO

Genomic medicine is transforming patient care. However, the speed of development has left a knowledge gap between discovery and effective implementation into clinical practice. Since 2010, the Training Residents in Genomics (TRIG) Working Group has found success in building a rigorous genomics curriculum with implementation tools aimed at pathology residents in postgraduate training years 1-4. Based on the TRIG model, the interprofessional Undergraduate Training in Genomics (UTRIG) Working Group was formed. Under the aegis of the Undergraduate Medical Educators Section of the Association of Pathology Chairs and representation from nine additional professional societies, UTRIG's collaborative goal is building medical student genomic literacy through development of a ready-to-use genomics curriculum. Key elements to the UTRIG curriculum are expert consensus-driven objectives, active learning methods, rigorous assessment and integration.

3.
Am J Pathol ; 188(4): 836-837, 2018 04.
Artigo em Inglês | MEDLINE | ID: mdl-29571324

RESUMO

This Editorial from American Society for Investigative Pathology Executive Officer Emeritus, Dr. Mark E. Sobel, reflects on his time serving the society as Executive Officer (2001 to 2017).

4.
Am J Pathol ; 187(1): 4-8, 2017 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-27914218

RESUMO

Academic pathology departments will be dramatically affected by proposed United States federal government regulatory initiatives. Pathology research will be substantially altered if proposed changes to the Common Rule (Code of Federal Regulations: Protection of Human Subjects title 45 CFR 46) and regulations governing the return of individual research results are approved and finalized, even more so now that the Precision Medicine initiative has been launched. Together, these changes are disruptive influences on academic pathology research as we know it, straining limited resources and compromising advances in diagnostic and academic pathology. Academic research pathologists will be challenged over the coming years and must demonstrate leadership to ensure the continued availability of and the ethical use of research pathology specimens.


Assuntos
Pesquisa Biomédica/legislação & jurisprudência , Consentimento Livre e Esclarecido/legislação & jurisprudência , Patologia/legislação & jurisprudência , Humanos
5.
Biopreserv Biobank ; 14(5): 429-439, 2016 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-27195612

RESUMO

Biobanks produce and distribute biospecimens, ensuring their fitness for purpose and accurately qualifying them before distribution. In their efforts toward professionalization, biobanks can nowadays seek certification or accreditation. One of the requirements of these standards is regular participation in Proficiency Testing (PT) programs. An international PT program has been developed and provided to biobanks and other laboratories that perform specific tests to qualify different types of biospecimens. This PT program includes biospecimen testing schemes, as well as biospecimen processing interlaboratory exercises. This PT program supports the development of biobank quality assurance by providing the possibility to assess biobank laboratory performance and useful insights into biobank laboratory method performance characteristics and thus fulfill the demands from accreditation authorities.


Assuntos
Bancos de Espécimes Biológicos/organização & administração , Manejo de Espécimes/normas , Acreditação , Bancos de Espécimes Biológicos/normas , Humanos , Controle de Qualidade
8.
J Mol Diagn ; 14(6): 525-40, 2012 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-22918138

RESUMO

This report of the Whole Genome Analysis group of the Association for Molecular Pathology illuminates the opportunities and challenges associated with clinical diagnostic genome sequencing. With the reality of clinical application of next-generation sequencing, technical aspects of molecular testing can be accomplished at greater speed and with higher volume, while much information is obtained. Although this testing is a next logical step for molecular pathology laboratories, the potential impact on the diagnostic process and clinical correlations is extraordinary and clinical interpretation will be challenging. We review the rapidly evolving technologies; provide application examples; discuss aspects of clinical utility, ethics, and consent; and address the analytic, postanalytic, and professional implications.


Assuntos
Genoma Humano , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Patologia Molecular/métodos , Biologia Computacional/métodos , Genômica/educação , Sequenciamento de Nucleotídeos em Larga Escala/economia , Humanos , Neoplasias/diagnóstico , Neoplasias/economia , Neoplasias/genética , Patentes como Assunto , Patologia Molecular/economia , Estudos de Validação como Assunto
9.
Per Med ; 9(3): 287-293, 2012 May.
Artigo em Inglês | MEDLINE | ID: mdl-29758790

RESUMO

Genomic technologies are dramatically changing the practice of medicine. Next-generation sequencing has allowed prognostic stratification of cancer patients, personalized drug therapy and the identification of genetic risk factors for a multitude of diseases. As the physicians who oversee tissue- and laboratory-based diagnostic testing, pathologists must understand and utilize this new technology for the benefit of patients; however, only a minority of pathology residency programs currently provide training in genomics. In response to this urgent need, the Training Residents in Genomics (TRIG) Working Group has made significant progress towards creating, implementing, evaluating and disseminating a national curriculum in genomic pathology. Although presented in the context of pathology training, the approach described in this review can serve as model for education in genomic medicine of students, trainees or professionals in other areas of healthcare.

15.
Int J Surg Pathol ; 13(1): 9-18, 2005 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-15735850

RESUMO

Malignant melanoma (MM), the most common metastatic solid tumor to involve the breast, may present as a diagnostic problem, frequently requiring the use of ancillary studies for accurate diagnosis. The implication of hormonal interplay is strong since metastatic MM to the breast is seen nearly always in women. However, the role of hormonal status as a predisposing factor in the development of this entity is largely unresolved. A number of chromosomal loci, including 1p36 and 9p21-22, appear to harbor critical genes important to melanoma tumorigenesis, and additionally chromosome 9q22.3-31. We wanted to know if metastatic MM in breast showed chromosome 1p and 9p genetic alterations (loss of heterozygosity) similar to those that occur in primary cutaneous MM, and whether additional 9q LOH changes are present. Hormonal receptor status of the metastatic MM was also determined. We identified 20 patients with known MM metastatic to the breast, which we analyzed with the following genetic markers: D9S12 (9q22.3), D9S171 (9p21), IFNA (9p22), and D1S450 (1p). Visually directed microdissection was performed on archival histologic slides containing both tumor and adjacent normal breast epithelium, followed by single-step DNA extraction and polymerase chain reaction (PCR) amplification for evaluation of loss of heterozygosity (LOH) for the above-listed markers. Immunohistochemical (IHC) stains for estrogen receptor (ER) and progesterone receptor (PR) was performed on 10 of the cases. Twelve of the 20 cases contained DNA suitable for PCR amplification following direct visualization microdissection. Four of 8 (50%) informative cases showed LOH at 9p21 with D9S171. Ten cases were heterozygous for IFNA, with 2 cases (20%) showing LOH at this locus. These particular cases also showed LOH at 9p21. One of 9 (11%) informative cases showed LOH for D1S450 (1p36). Five cases were heterozygous for D9S12, and 2 (40%) showed LOH in the tumor at 9q22.3. IHC stains for ER and PR were negative in the 10 tumors studied. Metastatic MM presenting as a breast mass is an interesting entity often requiring IHC studies for diagnosis, particularly when the histologic features simulate breast carcinoma or when no primary tumor is known. These tumors are ER and PR negative. Metastatic MM involving the breast shows similar genetic allelic losses on chromosome 9p21-22 (50%) and 1p36 (11%), as previously described in primary cutaneous MM. Additional LOH was observed at the 9q22.3-31 locus (40%). We suggest this locus to be investigated for harboring potential genes important in the tumorigenesis of cutaneous MM.


Assuntos
Neoplasias da Mama/genética , Cromossomos Humanos Par 1/genética , Cromossomos Humanos Par 9/genética , Perda de Heterozigosidade , Melanoma/genética , Neoplasias Cutâneas/genética , Adulto , Biomarcadores Tumorais , Neoplasias da Mama/química , Neoplasias da Mama/secundário , DNA de Neoplasias/análise , Feminino , Humanos , Técnicas Imunoenzimáticas , Masculino , Melanoma/química , Melanoma/secundário , Microdissecção , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Receptores Estrogênicos/análise , Receptores de Progesterona/análise , Neoplasias Cutâneas/química , Neoplasias Cutâneas/patologia
16.
Mod Pathol ; 16(7): 674-8, 2003 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-12861063

RESUMO

Pleomorphic lobular carcinoma of the breast is a variant of infiltrating lobular carcinoma that has poor prognosis. The pleomorphic appearance of this variant hinders its correct identification and differentiation from ductal carcinoma. The analysis of E-cadherin glycoprotein expression is a powerful tool for distinguishing lobular from ductal carcinomas, because complete loss of E-cadherin expression occurs in most infiltrating lobular tumors and lobular carcinomas in situ, but not in ductal tumors. In the present study, we have evaluated E-cadherin expression by immunohistochemistry in a series of 29 pleomorphic lobular breast carcinomas, including 7 cases with an in situ component. Complete loss of E-cadherin expression was observed in all the cases (29/29, 100%), in invasive and in situ components. To understand better the mechanisms underlying E-cadherin inactivation in this tumor type, the frequency of loss of heterozygosity at the E-cadherin gene locus (16q22.1) was analyzed. All informative tumors (27/27, 100%) showed loss of heterozygosity, thus implying a strong association between loss of E-cadherin expression and loss of heterozygosity at 16q22.1. Moreover, loss of heterozygosity was detected in all in situ components analyzed. These results imply that in terms of E-cadherin inactivation, pleomorphic lobular tumors are identical to classic infiltrating lobular carcinomas and distinct from ductal tumors, and therefore they should be considered a variant of lobular carcinoma of the breast, despite their aggressive behavior.


Assuntos
Neoplasias da Mama/genética , Caderinas/genética , Carcinoma Ductal de Mama/genética , Carcinoma Lobular/genética , Inativação Gênica , Perda de Heterozigosidade , Idoso , Neoplasias da Mama/patologia , Caderinas/metabolismo , Carcinoma Ductal de Mama/patologia , Carcinoma Lobular/patologia , DNA de Neoplasias/análise , Feminino , Humanos , Imuno-Histoquímica , Microdissecção , Estadiamento de Neoplasias
17.
Int J Surg Pathol ; 10(4): 237-45, 2002 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-12490973

RESUMO

Correlation of loss of heterozygosity (LOH) of p53, BRCA1, VHL, and estrogen receptor (ER) genes with the expression of related protein products and morphologic features predictive of aggressive biologic behavior was investigated to determine the significance of LOH in these genes. DNA from 35 formalin-fixed, paraffin-embedded breast carcinomas was obtained by microdissection of histologic sections. LOH was determined by polymerase chain reaction (PCR) using primers TP53, D3S1038, D17S855, and ESR for p53, VHL, BRCA1, and ER genes, respectively. p53, ER, and progesterone receptor (PR) protein expression was evaluated by immunohistochemistry. Morphologic evaluation included histologic type, and histologic and nuclear grades. TP53 LOH was identified in 13 (52%), BRCA1 LOH in 3 (17%), VHL LOH in 1 (4%), and ER LOH in 4 (21%) of 25, 17, 24, and 19 informative cases, respectively. p53 and ER protein expression was identified in 20 (57%) and 25 (71%) cases, respectively. TP53 LOH directly correlated with both high histologic and nuclear grade (P<0.01). BRCA1, VHL, and ER LOH was not frequent enough for correlation to morphologic features. Although 4 of 4 ER and 7 of 13 p53 LOH cases expressed related proteins, LOH did not correlate with protein expression. TP53 LOH may be an event contributing to aggressive biologic behavior since it is strongly associated with high histologic and nuclear grade. Missense or nonsense mutations may explain the absence of detectable p53 protein in 6 of 13 cases with p53 LOH. All 4 ER LOH cases expressed ER protein. BRCA1 and VHL LOH is infrequent in sporadic breast carcinoma.


Assuntos
Adenocarcinoma/genética , Neoplasias da Mama/genética , Genes BRCA1 , Genes p53/genética , Ligases/genética , Receptores Estrogênicos/genética , Proteínas Supressoras de Tumor , Ubiquitina-Proteína Ligases , Adenocarcinoma/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Proteína BRCA1/genética , Proteína BRCA1/metabolismo , Biomarcadores Tumorais/metabolismo , Neoplasias da Mama/patologia , DNA de Neoplasias/análise , Feminino , Humanos , Imuno-Histoquímica , Ligases/metabolismo , Perda de Heterozigosidade , Repetições de Microssatélites/genética , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Receptores Estrogênicos/metabolismo , Proteína Supressora de Tumor p53/genética , Proteína Supressora de Tumor p53/metabolismo , Proteína Supressora de Tumor Von Hippel-Lindau
18.
Breast J ; 5(3): 153-155, 1999 May.
Artigo em Inglês | MEDLINE | ID: mdl-11348277
19.
Endocr Pathol ; 9(1): 293-300, 1998.
Artigo em Inglês | MEDLINE | ID: mdl-12114777

RESUMO

Benign conditions of the parathyroid gland have been classified as adenomas and hyperplasias. These entities however are difficult to distinguish when only a single gland is enlarged. Adenomas are defined as neoplastic clonal growths whereas hyperplasias are considered to be reactive processes of polyclonal origin. In order to analyze the clonal pattern of these lesions, we have studied hyperplasias and adenomas of parathyroid glands from women by the human androgen receptor (HUMARA) assay, a recently reliable and highly-lnformative technique based on the X-chromosome inactivation pattern in females. Samples consisted of formalin-fixed as well as frozen tissues. Informativeness with HUMARA marker was 87% (13/15 cases). All hyperplasias (5/5) and 6/8 adenomas yielded polyclonal results, since two alleles of similar intensity appeared when the lesion was HpaIl-digested. Two parathyroid adenomas had a loss of one X-alIeIe for the HUMARA gene and they were interpreted as monoclonal. These results show that parathyroid hyperplasias and adenomas, considered as multigland or monogland involvement diseases respectively, may be both polyclonal in origin, and that only a small subset of adenomas is found to be clonal. Consequently, clonality analysis cannot allow a clear distinction between these two entities as classically diagnosed. A different approach should be considering hyperplasia or adenoma when a polyclonal or monoclonal result has been obtained by clonality analysis.

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