Abstract:
:Inherited mutations in the genes BRCA1 and BRCA2 are associated with a significantly increased risk of breast cancer, particularly before the age of 50 years, as well as an increased risk of ovarian cancer. Patients with early-onset breast cancer or ovarian cancer at any age with a family history of either disease are at higher risk of carrying a mutation in BRCA1 or BRCA2. Laboratory analysis of these genes can determine whether a patient has inherited an increased risk of breast and ovarian cancer. In the absence of a mutation that has been previously identified in a family member, most tests for hereditary breast-ovarian cancer risk analyze the entire coding sequences of BRCA1 and BRCA2. The gene sequencing process itself can be automated, but the data must be interpreted by an individual with training in molecular diagnostics. Management options generally available to individuals with hereditary susceptibility to breast and ovarian cancer include heightened surveillance, prophylactic surgery, and chemoprevention. The use of genetic techniques to identify women with increased risk of cancer demonstrates the application of recent advances in the understanding of the genetic basis of malignancy to laboratory medicine and clinical care.
journal_name
Arch Pathol Lab Medjournal_title
Archives of pathology & laboratory medicineauthors
Frank TSdoi
10.1043/0003-9985(1999)123<1023:LDOHST>2.0.CO;2subject
Has Abstractpub_date
1999-11-01 00:00:00pages
1023-6issue
11eissn
0003-9985issn
1543-2165journal_volume
123pub_type
杂志文章,评审abstract::We studied the use of stat (ie, statim--as soon as possible) laboratory tests at a university teaching hospital. For the 20 most frequently performed tests, 35.7% of the determinations were performed on a stat basis. The frequency with which a test was ordered on a stat basis ranged from 6.0% (for ESR) to 61.5% (amyla...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:
更新日期:1982-12-01 00:00:00
abstract::Localized aggregates of amyloid and chronic inflammatory cells are well known to occur in conjunctiva and usually are not associated with systemic disease. This study reports one such case in a healthy young man. In this lesion, the plasma cell infiltrate was shown by immunofluorescence to contain IgD lambda. The amyl...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:
更新日期:1983-12-01 00:00:00
abstract::Seven malignant peripheral lung tumors that were diagnosed using light microscopy as large-cell carcinomas or as epidermoid or adenocarcinomas were studied by light and electron microscopic histochemistry. All tumors contained numerous dense-core granules. The cells were joined by desmosomes and contained well-develop...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:
更新日期:1981-01-01 00:00:00
abstract::A 50-year-old man presented with a lung mass in the left upper lobe, which was shown by electron microscopy to be a thymoma. There was no evidence of a mediastinal mass. The lymphocytes of the tumor reacted with monoclonal antibody T101, a pan T-cell marker, and with OKT8. B1 and B2 surface antigens characteristic of ...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:
更新日期:1987-11-01 00:00:00
abstract::We report a case of fatal fibrosing peritonitis in a 28-year-old drug abuser. The extensive fibrosis, which was limited to the abdominal cavity, contained birefringent material. Silica was identified by spectrophotometric analysis. Silica is a component of talc (magnesium silicate) used as a drug filler. Relatively sm...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:
更新日期:1985-08-01 00:00:00
abstract:CONTEXT.—:Resection of breast carcinoma with adequate margins reduces the risk of local recurrence and reoperation. Tozuleristide (BLZ-100) is an investigational peptide-fluorophore agent that may aid in intraoperative tumor detection and margin assessment. In this study, fluorescence imaging was conducted ex vivo on g...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:10.5858/arpa.2018-0197-OA
更新日期:2019-09-01 00:00:00
abstract::The pathologic aspects of an uncommon complication of diabetes mellitus, destructive arthropathy (Charcot's joint), were studied. The peripheral nerve demyelination resulting in clinically demonstrable deficits in perception of pain and vibration and in reflexes in the lower extremities reinforces the neurogenic role ...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:
更新日期:1982-07-01 00:00:00
abstract::A skeletal myxoid chondrosarcoma of the femur was examined by light and electron microscopy. Light microscopic features were characteristic for myxoid chondrosarcoma or "chordoid sarcoma." Electron microscopy disclosed crystalline arrays of microtubules within dilated rough endoplasmic reticulum, a feature previously ...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:
更新日期:1988-01-01 00:00:00
abstract::We performed x-ray microanalysis of autopsy specimens using a scanning-transmission electron microscopy mode. Tissues were obtained at necropsy from a patient with history of angiography using thorium dioxide and from a patient with hemochromatosis. X-ray microanalysis confirmed the presence of thorium and iron in the...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:
更新日期:1984-03-01 00:00:00
abstract::Silicone, commonly used in cosmetic procedures owing to its presumed inertness, can yield serious sequelae including acute embolization and pneumonitis. Chronic pulmonary sequelae in response to silicone injection have not been previously described. We report a case of chronic progressive granulomatous pneumonitis in ...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章,评审
doi:10.5858/arpa.2011-0149-CR
更新日期:2012-02-01 00:00:00
abstract::Most mesenchymal tumors of the gastrointestinal tract are now referred to as gastrointestinal stromal tumors (GISTs). The tumors differ from ordinary leiomyomas and schwannomas in several respects: the GISTs typically express c-kit protein (CD117) and CD34, 30% to 50% of them are (often focally) positive for alpha-smo...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:10.1043/0003-9985(2000)124<0894:SCTOUB>2.0.CO;2
更新日期:2000-06-01 00:00:00
abstract::Immunoreactivity for endocrine peptides (serotonin, gastrin, somatostatin, insulin, corticotropin, calcitonin, neurotensin, vasoactive intestinal peptide, and bombesin), cytoskeletal proteins (high and low molecular weight keratins), and tumor differentiation markers (chromogranin, neuron-specific enolase, carcinoembr...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:
更新日期:1986-11-01 00:00:00
abstract::A 38-year-old woman suffered rapid onset of renal failure between 11 and 15 months after undergoing a jejunoileal bypass for morbid obesity. Microscopic examination of renal biopsy specimens revealed oxalosis and severe tubulointerstitial nephritis. Immunofluorescence microscopy disclosed linear staining of tubular ba...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:
更新日期:1981-07-01 00:00:00
abstract:CONTEXT:Angiosarcomas are rare malignancies that commonly arise in the head and neck. No definitive precursor lesion or etiological link between hemangiomas and angiosarcoma has been postulated. Evidence at the cell culture level suggests that loss of heterozygosity of 13q might be involved in tumorigenesis of endothel...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:10.1043/1543-2165(2006)130[1184:ALODTS]2.0.CO;2
更新日期:2006-08-01 00:00:00
abstract:CONTEXT:- Although many mesotheliomas are related to asbestos exposure, not all are, and there is increasing information on other causes of mesothelioma. OBJECTIVE:- To provide a review of non-asbestos causes for malignant mesothelioma. DATA SOURCES:- Review of relevant published literature via PubMed and other searc...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章,评审
doi:10.5858/arpa.2017-0365-RA
更新日期:2018-06-01 00:00:00
abstract:CONTEXT:Case reports have described detection of candidemia by examination of peripheral blood smears. It is unclear whether this method has wider applicability for early detection of fungemia. OBJECTIVE:To determine the sensitivity of smear review for detecting candidemia. DESIGN:Normal and cytopenic blood was spike...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:10.1043/1543-2165(2007)131[97:SOPBSR]2.0.CO;2
更新日期:2007-01-01 00:00:00
abstract::Rhabdoid tumor of the thyroid gland is a very rare neoplasm, characterized by significant metastatic potential. All of the 6 cases reported in the recent literature had poor outcomes. We report an additional case involving, to our knowledge, the oldest patient reported so far. A 67-year-old woman had a nodular goiter ...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:10.1043/1543-2165(2005)129
更新日期:2005-03-01 00:00:00
abstract::Phialemonium obovatum was found to be the cause of nosocomial osteomyelitis in a 41-year-old man after sustaining a nonpenetrating injury to his lumbar and cervical region. Histologic examination of fragments of disk and bone from L3-4 hemilaminectomy showed multiple fragments of fibrocartilage with focal necrosis, ch...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:
更新日期:1993-08-01 00:00:00
abstract::A retrospective study was performed to describe the histologic stages of selective myocardial cell necrosis (SMCN) in nonhuman primates, and to compare the incidence of SMCN in two groups of nonhuman primates. Myocardial tissues taken at the time of autopsy from 50 primates at an experimental center were compared with...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:
更新日期:1983-01-01 00:00:00
abstract::We report three cases of Hodgkin's disease with coexistent histologic features reminiscent of Castleman's disease. In each case, reactive follicular hyperplasia was prominent and lymphoid follicles contained normal- or small-sized germinal centers. In two lesions, sheets of mature plasma cells and vascular proliferati...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:
更新日期:1994-03-01 00:00:00
abstract::Duodenal-type follicular lymphoma (D-FL) is a newly recognized entity in the 2016 World Health Organization classification update. It has an immunophenotype similar to that of other FLs and usually carries the typical t(14;18)(q32;q21) translocation. However, unlike other FLs, D-FL is almost always diagnosed at a low ...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章,评审
doi:10.5858/arpa.2016-0519-RS
更新日期:2018-04-01 00:00:00
abstract::Cystadenoma of the pancreas, principally a disease of adult women, was found in a female infant. This benign, nonfunctional tumor is usually amenable to surgery and a cure is to be expected after extirpation. The pathogenesis of this mass is unknown, but the finding of a cytomegalovirus infection in an excretory duct ...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:
更新日期:1980-01-01 00:00:00
abstract::The utility of a laboratory test for differential diagnosis depends on the degree that test results for different disease states overlap. I developed a new overlap index that ranges from zero, for an ideal test with no overlap, to one if the median test result is the same for the two disease states. The index does not...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:
更新日期:1984-01-01 00:00:00
abstract:CONTEXT:KRAS mutations can be detected in approximately 30% to 40% of all patients with colorectal cancer. Several recent studies have shown that patients with KRAS mutations in codons 12 or 13 in metastatic tumors do not benefit from anti-epidermal growth factor receptor therapy with cetuximab or panitumumab. OBJECTI...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章,评审
doi:10.1043/1543-2165-133.10.1600
更新日期:2009-10-01 00:00:00
abstract::We report a case of primary Wilms' tumor of the endocervix in a 13-year-old girl. The tumor was polypoid, filled the vagina, and was attached to the endocervix by a stalk. Microscopic examination disclosed blastematous, epithelial, and stromal elements characteristic of Wilms' tumor. The patient's kidneys were normal ...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:
更新日期:1985-04-01 00:00:00
abstract::The monoclonal antibody HMB-45 is a highly specific and sensitive marker of malignant melanoma. Rarely, however, aberrant reactivity to nonmelanocytic tumors has been observed. We report an immunoblastic lymphoma of B-cell phenotype that reacted with HMB-45 in a 70-year-old white woman. To our knowledge, this is the f...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章,评审
doi:
更新日期:1991-08-01 00:00:00
abstract::Lymph node biopsy specimens from 16 intravenous drug abusers with persistent generalized lymphadenopathy were evaluated by immunohistochemical methods using a panel of antisera to detect different cell populations. The 11 cases that we tested on cryostat sections showed an increased number of Leu-2a-positive cells (cy...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:
更新日期:1985-11-01 00:00:00
abstract::Cytomegalovirus (CMV) pneumonitis is an important cause of morbidity and mortality in lung transplant patients and requires timely and accurate diagnosis. This study compares the diagnostic utility of the evaluation of transbronchial biopsy by histology, immunohistochemistry, and simultaneous culture of bronchoalveola...
journal_title:Archives of pathology & laboratory medicine
pub_type: 临床试验,杂志文章
doi:
更新日期:1995-01-01 00:00:00
abstract:CONTEXT:Automated cell counters use alerts (flags) to indicate which differential white blood cell counts can be released directly from the instrument and which samples require labor-intensive slide reviews. The thresholds at which many of these flags are triggered can be adjusted by individual laboratories. Many users...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:10.1043/2009-0531-OA.1
更新日期:2010-10-01 00:00:00
abstract::We present the case of a 30-year-old woman who suddenly developed intense occipital headaches. Computed tomography and magnetic resonance imaging demonstrated a cyst located ventrally to the brain stem at the pontomedullary junction. The lesion was resected. Histologically, it was lined by a pseudostratified, ciliated...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章,评审
doi:
更新日期:1992-02-01 00:00:00