Abstract:
:SMARCA4-deficient thoracic sarcoma is a recently proposed new entity of soft tissue sarcomas with an undifferentiated round cell morphology that is diagnostically challenging. Here we report a case of this tumor where the diagnosis was established using limited samples and resources. A woman in her early 30s developed two intrathoracic masses. Biopsies for these lesions showed sheets of undifferentiated round/rhabdoid cells that retained SMARCB1 expression. Further analysis revealed a reduced SMARCA4 expression and a complete loss of SMARCA2 expression in tumor cells. Subsequent Sanger sequencing identified a nonsense c.1546A>T (p.516Lys>Ter) mutation in SMARCA4 and confirmed the diagnosis. Our case highlighted clinicopathological correlation and rational use of tissue sections for immunohistochemistry may enable to diagnose this tumor even when only limited samples are available. Recognition of this new entity is important for further understanding of the disease and the future development of specific therapies.
journal_name
Hum Patholjournal_title
Human pathologyauthors
Kuwamoto S,Matsushita M,Takeda K,Tanaka N,Endo Y,Yamasaki A,Kohashi K,Oda Y,Horie Ydoi
10.1016/j.humpath.2017.05.024subject
Has Abstractpub_date
2017-12-01 00:00:00pages
92-97eissn
0046-8177issn
1532-8392pii
S0046-8177(17)30197-1journal_volume
70pub_type
杂志文章相关文献
HUMAN PATHOLOGY文献大全abstract::Although mast cell proliferation in the bone marrow frequently occurs in systemic mastocytosis and is often associated with radiographically detectable bone lesions, the pathologic correlates of the skeletal abnormalities are poorly characterized. We therefore examined three nondecalcified transiliac crest biopsy spec...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/s0046-8177(81)80084-6
更新日期:1981-09-01 00:00:00
abstract::Oral cancer overexpressed 1 (ORAOV1) has been reported to exhibit high amplification levels in esophageal squamous cell cancer (ESCC) and in premalignant lesions. However, ORAOV1 protein expression levels in ESCC and esophageal squamous intraepithelial neoplasia (ESIN) have not yet been reported. We have explored the ...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/j.humpath.2015.01.009
更新日期:2015-05-01 00:00:00
abstract::To examine the hypothesis that malpositions of cardiac ventricles could be explained by altered development of the interventricular septum, we studied hearts from the Johns Hopkins Hospital autopsy files with double inlet left ventricle (16 cases) or corrected transposition (nine cases). In double inlet left ventricle...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/s0046-8177(81)80125-6
更新日期:1981-03-01 00:00:00
abstract::Neuronal intranuclear inclusion disease (NIID) is a progressive, usually fatal degenerative neurologic condition characterized by eosinophilic, intranuclear inclusions in neurons of the central and peripheral nervous system. We report a boy with onset of disease manifestations at age 3 and death at age 9, who showed c...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/0046-8177(91)90296-2
更新日期:1991-07-01 00:00:00
abstract::Chronic myelogenous leukemia (CML) is associated in 95% of cases with the Philadelphia chromosome (Ph1) by cytogenetic analysis. This acquired karyotypic abnormality is the product of a balanced translocation between the c-abl oncogene on chromosome 9 and the breakpoint cluster region (BCR) gene on chromosome 22. The ...
journal_title:Human pathology
pub_type: 杂志文章,评审
doi:10.1016/0046-8177(94)90225-9
更新日期:1994-06-01 00:00:00
abstract::Tumor cells frequently evade apoptosis triggered by cellular stress via aberrant regulation of the BCL-2 family members, which are key players in regulating cell death under physiological and pathological situations. Previously, we have identified a novel BH3-only protein of the BCL-2 family, BLM-s (BCL-2-like molecul...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/j.humpath.2018.09.005
更新日期:2019-02-01 00:00:00
abstract::The diagnosis of melanoma metastatic to lymph node remains a difficult problem given its histological diversity. We examined the staining patterns of S-100, NK1/C3, HMB-45, and MART-1 (DC10) in melanoma metastases to lymph nodes. Immunohistochemical stains were performed on tissue sections of 126 formalin-fixed lymph ...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/j.humpath.2003.09.019
更新日期:2004-02-01 00:00:00
abstract::Loss or reduced expression of E-cadherin has been shown to be associated with poor survival in patients with bladder cancer. In numerous cases, loss of E-cadherin expression in bladder tumors has been accompanied by continued association of catenins with the membrane, suggestive of the expression of an alternative cad...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1053/hupa.2001.21140
更新日期:2001-01-01 00:00:00
abstract::Thoracoamniotic shunting is the treatment of choice for management of the fetus with type 1 congenital pulmonary airway malformation. Thoracoamniotic shunting has been performed to reduce life-threatening risks such as fetal hydrops. However, caution is needed because of possible complications. Here, we report that th...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/j.humpath.2011.10.017
更新日期:2012-09-01 00:00:00
abstract::Paget's disease is a skin cancer characterized by characteristic (Paget) cells scattered in the epidermis. Although its prognosis is generally favorable with surgical resection, the clinical outcome turns unfavorable in cases with recurrence and metastasis. Therefore, establishment of effective therapeutic regimens is...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/j.humpath.2005.09.009
更新日期:2005-12-01 00:00:00
abstract::Although T-lineage large granular lymphocyte (LGL) leukemia has been described for over 20 years, many patients with this neoplasm go unrecognized. Chief among the difficulties in diagnosing this entity is that the morphologic features are nonspecific and that it is difficult to distinguish it from reactive processes....
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1053/hupa.2000.19298
更新日期:2000-10-01 00:00:00
abstract::The national decline in hospital autopsy cases negatively impacts physician education and medical quality control to an unknown degree. The current non-medicolegal autopsy rate is less than 5% of hospital deaths. This study compares internal medicine and pathology resident physician perceptions of the autopsy, includi...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/j.humpath.2006.08.011
更新日期:2007-02-01 00:00:00
abstract::We describe a case of simultaneous nodular sclerosing Hodgkin's disease and a granulocytic sarcoma in a cervical lymph node without any previous therapy. The condition evolved into acute myelogenous leukemia approximately 8 months after the initial diagnosis of the granulocytic sarcoma. The unexpected presence of a gr...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/s0046-8177(96)90293-2
更新日期:1996-10-01 00:00:00
abstract::We report the clinical, histologic, and genetic findings of concurrent neuroblastoma and nephroblastoma in an infant with Fanconi's anemia (FA). Both tumors had characteristic chromosomal aberrations. In particular, the neuroblastoma showed a gain of chromosome 17q, considered an important factor for prognosis. But un...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1053/hupa.2002.128062
更新日期:2002-10-01 00:00:00
abstract::Myopericytoma is a rare, histologically distinctive tumor that shows evidence of differentiation toward perivascular myoid cells. Myopericytoma is largely considered a neoplasm of skin and soft tissues, with examples of this lesion involving visceral sites being extremely limited. We present the clinical and pathologi...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/j.humpath.2010.02.014
更新日期:2010-10-01 00:00:00
abstract::Angiocentric immunoproliferative lesions (AILs) are believed to represent a unique type of extranodal malignant lymphoma on the basis of clinicopathologic and immunophenotypic evidence. However, molecular studies to assess clonality have been performed on a small number of cases. In this study we assessed the clonalit...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/0046-8177(91)90269-u
更新日期:1991-11-01 00:00:00
abstract::We describe a method for the immunocytochemical assessment of estrogen receptor (ER) status on routinely processed, formalin-fixed tissue using a recently developed commercially available monoclonal antibody (Dako 1D5) with a microwave antigen retrieval technique. A series of 90 cases of human breast carcinoma was ana...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/0046-8177(95)90060-8
更新日期:1995-03-01 00:00:00
abstract::Papillary carcinoma of the breast is a variant of predominantly intraductal carcinoma characterized by a papillary growth pattern with fibrovascular support. Loss of heterozygosity (LOH) was evaluated at multiple chromosomal loci (including loci reported to show frequent genetic alterations in breast cancer) to determ...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/s0046-8177(98)90422-1
更新日期:1998-10-01 00:00:00
abstract::Increasing differentiation in the human endometrium is associated with an apparent decrease in intercellular contacts between endometrial stromal cells ...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/0046-8177(90)90257-6
更新日期:1990-10-01 00:00:00
abstract::To better represent the Gleason score of radical prostatectomy, the International Society of Urologic Pathologists Consensus Committee recommends assigning individual Gleason scores to prostate cancer cores submitted in separate containers and/or multiple cores in the same container with site identifiers. However, sce...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/j.humpath.2008.07.020
更新日期:2009-04-01 00:00:00
abstract::Pleomorphic adenomas of the breast (PAB) are uncommon tumors. We studied the clinicopathologic features of 10 cases of PAB, seven of which were assessed immunohistochemically. Nine patients were women, with a median age at diagnosis of 65 years. Eight patients presented with a palpable mass; two had a nipple discharge...
journal_title:Human pathology
pub_type: 杂志文章,评审
doi:10.1016/0046-8177(91)90102-u
更新日期:1991-12-01 00:00:00
abstract::Automatic quantification of cardinal histologic features of nonalcoholic fatty liver disease (NAFLD) may reduce human variability and allow continuous rather than semiquantitative assessment of injury. We recently developed an automated classifier that can detect and quantify macrosteatosis with greater than or equal ...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/j.humpath.2015.01.019
更新日期:2015-05-01 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::Primary colorectal diffuse large B-cell lymphoma (DLBCL) is rare, and its clinicopathological and genetic features are poorly understood. The aim of our study was to elucidate the frequency and prognostic significance of molecular subgroups in colorectal DLBCL. We examined 25 cases of colorectal lymphoma with DLBCL-li...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/j.humpath.2019.09.003
更新日期:2020-02-01 00:00:00
abstract::Metallothionein is a group of small molecular weight cysteine-rich proteins with a broad variety of functions. Metallothionein has been shown to regulate apoptosis and proliferation. Overexpression of metallothionein frequently occurs in human tumors and is related to prognosis as well as therapy response. However, me...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/j.humpath.2009.01.026
更新日期:2009-12-01 00:00:00
abstract::In a review of pediatric autopsies from 1951 to 1985, we identified 40 cases in which pancreatitis was diagnosed pathologically. Twenty-six of these patients were under 4 years of age, and the male-to-female ratio was 1.5. Six groups of patients were identified: 10 with hepatobiliary disease, including 9 with biliary ...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/s0046-8177(88)80530-6
更新日期:1988-03-01 00:00:00
abstract::NLRC3 is a member of the nucleotide-binding domain and leucine-rich repeat (NLR) family protein that plays a role in inflammation and immunity. Although chronic inflammation has been identified as a hallmark of cancer, NLRC3 expression correlation with the development and prognosis of hepatocellular carcinoma (HCC) is...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/j.humpath.2018.07.031
更新日期:2018-12-01 00:00:00
abstract::Recent studies demonstrated that protease-activated receptor-2 (PAR-2) correlates with tumor progression in various tissues. On the other hand, oxidative stress arising from endometriosis has been considered a cause of carcinogenesis in ovarian clear cell carcinoma (OCCC). We previously demonstrated that oxidative str...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/j.humpath.2017.04.008
更新日期:2017-06-01 00:00:00
abstract::Kikuchi's histiocytic necrotizing lymphadenitis is a self-limited disorder that typically involves the cervical lymph nodes of young women. Although a viral etiology has been postulated, a definitive viral agent has not been identified. Recent reports have suggested that human herpesvirus 8 (HHV 8) or Epstein-Barr vir...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1053/hupa.2003.11
更新日期:2003-02-01 00:00:00
abstract::A case of xanthomatosis of the small bowel is described. Beginning with the proximal jejunum, an 85-cm segment of small bowel was distorted by regularly spaced nodular accumulations of lipid-laden macrophages that expanded the submucosa and muscularis and extended to the serosal surface. The conditions often associate...
journal_title:Human pathology
pub_type: 杂志文章
doi:10.1016/s0046-8177(85)80237-9
更新日期:1985-04-01 00:00:00