Abstract:
:Mutually exclusive histone 3.3 gene mutations have been recognized in chondroblastoma and giant cell tumor of bone (GCTB), which may be useful for differential diagnostic purposes in morphologically ambiguous cases. Although more than 90% of GCTBs present histone 3.3 variants exclusively in the H3F3A gene, chondroblastoma is mutated mainly in H3F3B. In this study, we examined a series of giant cell-rich primary bone tumors, aiming to evaluate the possible diagnostic role of histone 3.3 mutations in the differential diagnosis between GCTB and giant cell-rich sarcomas. Sixteen cases of nonmetastatic GCTB, 9 GCTBs with lung metastases, and 35 giant cell-rich sarcomas were selected from our institutional archives. Eight chondroblastomas were used as controls. Direct sequencing for the presence of H3F3A and H3F3B variants in coding region between codons 1 and 42, including the hotspot codons (28, 35, and 37), was performed on DNA extracted from formalin-fixed, paraffin-embedded tissue using conventional polymerase chain reaction and fast coamplification at lower denaturation temperature-polymerase chain reaction. Overall, 24 GCTBs (96%) presented a mutation in the H3F3A gene (15 of 16 nonmetastatic and 9 of 9 metastatic). Five sarcomas harbored an H3F3A mutation (3 p.G35W, 1 p.G35L, and 1 p.G35E), and these were all secondary malignant GCTBs. In conclusion, we confirm that H3F3A mutational testing may be a useful adjunct to differentiate GCTB from giant cell-rich sarcomas. Although the presence of H3F3A mutations does not exclude with certainty a diagnosis of sarcoma, the possibility of a malignant evolution of GCTB should also be considered.
journal_name
Hum Patholjournal_title
Human pathologyauthors
Righi A,Mancini I,Gambarotti M,Picci P,Gamberi G,Marraccini C,Dei Tos AP,Simi L,Pinzani P,Franchi Adoi
10.1016/j.humpath.2017.08.033subject
Has Abstractpub_date
2017-10-01 00:00:00pages
128-135eissn
0046-8177issn
1532-8392pii
S0046-8177(17)30322-2journal_volume
68pub_type
杂志文章相关文献
HUMAN PATHOLOGY文献大全abstract::Primitive neuroectodermal tumors are morphologically similar malignant tumors arising in intracranial and peripheral sites of the nervous system, showing varying degrees of cellular differentiation with a tendency to disseminate along cerebrospinal fluid pathways. They occur primarily in children and young adults. Und...
journal_title:Human pathology
pub_type: 杂志文章,评审
doi:10.1016/s0046-8177(83)80006-9
更新日期:1983-06-01 00:00:00
abstract::Two hundred three testicular germ cell tumors were studied immunohistochemically for the presence of placental alkaline phosphatase (PLAP). Special emphasis was placed on the pattern and incidence of positive staining of intratubular malignant germ cells (ITMGCs) adjacent to tumors. 99% of cases with adjacent ITMGCs s...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/s0046-8177(88)80172-2
更新日期:1988-06-01 00:00:00
abstract::Hemangiopericytoma and fibrosarcoma represented at one time two of the most common diagnoses in soft tissue pathology. Both terms are now largely extinct. This article will review the clinicopathologic, immunohistochemical and molecular genetic advances that have led to these changes, and review the pathologic feature...
journal_title:Human pathology
pub_type: 历史文章,杂志文章,评审
doi:10.1016/j.humpath.2019.10.001
更新日期:2020-01-01 00:00:00
abstract::This article presents a view of lymphoid tissue architecture as defined by the traffic of defined lymphoid cell classes. The compartmentalization of lymphocytes is discussed in reference to specific cell-cell interactions that occur in antigen-driven immune responses. Finally, the distribution of normal and neoplastic...
journal_title:Human pathology
pub_type: 杂志文章,评审
doi:10.1016/s0046-8177(78)80005-7
更新日期:1978-01-01 00:00:00
abstract::As a result of major recent advances in understanding the biology of gastrointestinal stromal tumors (GISTs), specifically recognition of the central role of activating KIT mutations and associated KIT protein expression in these lesions, and the development of novel and effective therapy for GISTs using the receptor ...
journal_title:Human pathology
pub_type: 共识发展会议,杂志文章,评审
doi:10.1053/hupa.2002.123545
更新日期:2002-05-01 00:00:00
abstract::The aim of the study was to evaluate the impact of the updated 2018 American Society of Clinical Oncology (ASCO)/College of American Pathologists (CAP) guideline on human epidermal growth factor receptor 2 (HER2) interpretation in breast cancer compared with that of the previous guidelines and also the significance of...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/j.humpath.2020.01.003
更新日期:2020-04-01 00:00:00
abstract::It has been suggested that atypical adenomatous hyperplasia (AAH) may be a precursor of peripheral adenocarcinoma of the lung. Telomerase is a ribonucleoprotein enzyme that synthesizes telomeric DNA onto chromosomal ends. Its activity is believed to be crucial for cellular immortality, and it is thought to participate...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1053/hupa.2002.125775
更新日期:2002-07-01 00:00:00
abstract::Ovarian ependymomas are rare glial neoplasms that typically occur in women on their third to fourth decades of life. They are histologically similar to ependymomas of the central nervous system but may have a broader immunophenotype. We describe a 27-year-old woman who presented to the emergency department with a 3-we...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/j.humpath.2018.06.019
更新日期:2019-01-01 00:00:00
abstract::Two cystic lesions that were lined by pseudostratified ciliated columnar epithelium containing goblet cells are described. Both lesions were found in the subarachnoid space between the vertebrobasilar arterial system and the brainstem. One cyst was an incidental finding in a patient who died of orbital phycomycosis. T...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/s0046-8177(86)80467-1
更新日期:1986-04-01 00:00:00
abstract::The LKB1 tumor suppressor gene codes for a serine/threonine protein kinase, and among its substrates is the adenosine monophosphate-dependent protein kinase, a sensor of intracellular energy levels. LKB1 is genetically inactivated in several types of tumors, especially lung adenocarcinomas. Here we used immunohistoche...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/j.humpath.2007.01.022
更新日期:2007-09-01 00:00:00
abstract::A distinctive variant of basal cell adenoma called membranous basal cell adenoma is well recognized in salivary glands. It appears identical to cutaneous cylindroma, hence the synonym dermal analogue tumor. We present a case of a tumor involving the parotid gland that appeared identical to cutaneous spiradenoma. In ad...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/j.humpath.2009.02.015
更新日期:2009-10-01 00:00:00
abstract::Twenty-six women with multiple human papillomavirus (HPV)-related lesions of the lower genital tract were investigated by immunohistochemistry for the internal genus-specific capsid antigen of HPV and by DNA-DNA in situ hybridization with 35S-radiolabeled probes for sequences of HPV-6/11, HPV-16, and HPV-18. The vulva...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/0046-8177(89)90175-5
更新日期:1989-02-01 00:00:00
abstract::Endocrine-paracrine (APUD, neuroendocrine) cells are located in the prostatic ductal and acinar epithelium. These cells are of the open and closed type and have dendritic processes. There is a wide range of secretory granule morphology presumably indicating a variety of different cell "types." Secretory immunoreactive...
journal_title:Human pathology
pub_type: 杂志文章,评审
doi:10.1016/0046-8177(92)90110-o
更新日期:1992-03-01 00:00:00
abstract::Kidneys from 1864 necropsies performed in Brisbane, Australia, and from 397 necropsies performed in Christchurch, New Zealand, were examined macroscopically and microscopically. Three zonal and three focal patterns of renal medullary calcification were defined: (1) Outer medullary cortical calcification seen in hyperc...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/s0046-8177(76)80057-3
更新日期:1976-07-01 00:00:00
abstract::Primary renal collision tumors composed of 2 histologically distinct components are rare with only isolated case reports in the medical literature. Oncocytoma is a benign renal neoplasm, which is thought to originate from distal tubular epithelial cells. Mucinous tubular and spindle cell carcinoma (MTSCC) of kidney is...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/j.humpath.2017.08.012
更新日期:2018-01-01 00:00:00
abstract::Twelve cases of pure adenoid cystic carcinoma of the breast were reviewed. Patients ranged in age from 34 to 69 years. Seven carcinomas were in the right breast, and five in the left; five of the 12 were located in the central region of the breast, five in the upper outer quadrant, and the two in the upper inner and l...
journal_title:Human pathology
pub_type: 杂志文章,评审
doi:10.1016/s0046-8177(87)80413-6
更新日期:1987-12-01 00:00:00
abstract::Ultrastructural studies of the brain in three cases of cerebral amyloid angiopathy demonstrated that the vascular amyloid in this disease is composed of fibrils identical to those in systemic amyloid disease, mixed with a large amount of vesicular debris. Amyloid appears to be derived from circulating protein and is d...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/s0046-8177(82)80251-7
更新日期:1982-12-01 00:00:00
abstract::Most esophageal intraepithelial lymphocytes (IELs) express T-cell markers. Increased numbers of esophageal IELs have been shown in reflux esophagitis. The cytotoxic potential and activity of esophageal IELs have not as yet been examined. Our objectives were to determine whether esophageal IELs express the recently des...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/s0046-8177(99)90114-4
更新日期:1999-04-01 00:00:00
abstract::The Sydney classification for gastritis provides guidelines for histological grading of gastric biopsies. In an ongoing study of gastric preneoplastic lesions in Chiapas, Mexico, 7 biopsies from 150 patients (4 from the antrum and 3 from the body) were obtained during endoscopy and studied histologically. The first 74...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/s0046-8177(99)90164-8
更新日期:1999-12-01 00:00:00
abstract::Breast implant-associated anaplastic large cell lymphoma (BI-ALCL) is a variant of anaplastic large cell lymphoma arising within seroma effusion associated with breast implants. BI-ALCL is a rare disease, recently recognized as a new provisional entity by the 2017 revised World Health Organization classification. All ...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/j.humpath.2019.05.007
更新日期:2019-08-01 00:00:00
abstract::The canals of Hering (CoH), converging from the hepatic lobule onto the portal tract, connect bile canaliculi to the interlobular bile ducts, and represent the most proximal portion of the bile drainage pathway with a cholangiocyte lining. In this study we sought to ascertain whether this proximal pathway is involved ...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1053/hupa.2002.128060
更新日期:2002-10-01 00:00:00
abstract::The distinction between Spitz nevus and melanoma is currently possible, applying a set of definite histological criteria. However, in certain lesions deviating from the stereotypical morphology of classic Spitz nevi ("atypical Spitz tumors"), the differentiation between benign and malignant cases appears problematic b...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/j.humpath.2006.02.001
更新日期:2006-07-01 00:00:00
abstract::Sex-determining region Y-box 2 is proposed to be a key transcription factor in embryonic stem cells. The known roles of sex-determining region Y-box 2 in development and cell differentiation suggest that it is relevant to the aberrant growth of tumor cells. Thus, sex-determining region Y-box 2 may play an important ro...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/j.humpath.2011.10.016
更新日期:2012-09-01 00:00:00
abstract::We have previously reported that the drs gene has the ability to suppress transformation by v-src and v-K-ras in the rat cell line F2808. We have also shown that the expression of drs mRNA is markedly reduced in a variety of human cancer cell lines, suggesting that down-regulation of drs mRNA is correlated with the de...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/s0046-8177(03)00240-5
更新日期:2003-07-01 00:00:00
abstract::Liver parenchymal cells (hepatocytes) have a low rate of turnover, but can nevertheless mount a rapid and efficient regenerative response. However, in some cases of extreme hepatotoxicity hepatocyte proliferation is restricted or even abolished, and instead biliary epithelial cells, commonly referred to as ductular ov...
journal_title:Human pathology
pub_type: 杂志文章,评审
doi:10.1016/s0046-8177(96)90212-9
更新日期:1996-09-01 00:00:00
abstract::This article considers the NHS cervical screening program and the controversies which have attended the introduction of comprehensive screening in a partially screened population of women in whom the underlying risk of disease was unknown. The increase in screening coverage which has taken place since 1988 has coincid...
journal_title:Human pathology
pub_type: 杂志文章,评审
doi:10.1016/s0046-8177(97)90094-0
更新日期:1997-02-01 00:00:00
abstract::Tumor necrosis factor alpha (TNF alpha) and interleukin-6 (IL-6) antigenic sites were shown within the resident glomerular mesangial cells of lupus nephritis patients applying the colloidal gold immunocytochemical approach at the electron microscopic level. Using specific polyclonal antibodies against human recombinan...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/0046-8177(95)90253-8
更新日期:1995-05-01 00:00:00
abstract::Mucoepidermoid carcinoma is a common salivary gland malignancy characterized by genetic heterogeneity as well as cellular diversity of its neoplastic components, which include mucinous cells, epidermoid cells and intermediate cells. The clonal and genetic relationship between each component has not been investigated b...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/j.humpath.2016.05.022
更新日期:2016-10-01 00:00:00
abstract::Acute myeloid leukemia with myelodysplasia-related changes (AML-MRC) generally confers poor prognosis; however, the clinical outcome remains heterogeneous. We sought to further stratify this subentity of AML by performing a retrospective analysis of 179 adult patients with AML-MRC diagnosed at our institution. Based o...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/j.humpath.2020.08.003
更新日期:2020-10-01 00:00:00
abstract::This study tested whether concordance could be achieved for abnormal inflammation in the basal decidua of placental specimens among 6 pathologists experienced in placental pathology. Thirty microscope slides were evaluated by the pathologists for chronic deciduitis. They also scored the severity and extent of inflamma...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/s0046-8177(00)80241-5
更新日期:2000-03-01 00:00:00