Abstract:
:Malignant rhabdoid tumors (MRTs) are well recognized in the kidney and extrarenal sites such as soft tissues, retroperitoneum, and bladder but are classified as atypical teratoid/rhabdoid tumors in the central nervous system. The unifying features of both extracranial MRT and atypical teratoid/rhabdoid tumors are the exon deletions/mutations of the SMARCB1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1) gene in 22q11.23 and resulting loss of SMARCB1/INI1 (integrase interactor 1) protein expression by immunohistochemistry. We herein report a case of extrarenal rhabdoid tumor confined to the bladder in a 3-year-old child, diagnosed by histopathology and confirmed by immunohistochemical and molecular studies. This is only the fourth molecularly proven primary MRT of the bladder to be reported. The patient's peripheral blood was negative for the deletions observed in the tumor, thereby confirming a sporadic origin for the tumor. Given the possible dismal outcome, urgency for definitive diagnosis to institute intensive multimodality therapy, histopathologic differential diagnosis with rhabdomyosarcoma and urothelial carcinoma with rhabdoid features, and lack of consensus management guidelines, oncologists, urologists, and pathologists must be aware of this entity. Evaluation for a germ line SMARCB1 alteration may greatly aid risk stratification and family planning.
journal_name
Ann Diagn Patholjournal_title
Annals of diagnostic pathologyauthors
Savage N,Linn D,McDonough C,Donohoe JM,Franco A,Reuter V,Biddinger PW,Eaton KW,Biegel JA,Sharma Sdoi
10.1016/j.anndiagpath.2011.04.008subject
Has Abstractpub_date
2012-12-01 00:00:00pages
504-7issue
6eissn
1092-9134issn
1532-8198pii
S1092-9134(11)00077-3journal_volume
16pub_type
杂志文章,评审abstract::Encephalitis caused by Balamuthia amebic species is an increasingly recognized chronic granulomatous infectious process that may affect both immunocompetent and immunocompromised individuals. The course of the disease is insidious but fatal in most cases, mainly because of delayed diagnosis, difficulty in isolation an...
journal_title:Annals of diagnostic pathology
pub_type: 杂志文章
doi:10.1016/j.anndiagpath.2006.04.003
更新日期:2007-12-01 00:00:00
abstract::The purpose of the study is to assess whether a protocol for submitting clinically suspected endometrial polyps will improve the detection rate of polyps and evaluation of the background endometrium. A retrospective review from 1999 to 2015 was performed. Cases were divided into (1) polyps and curettings placed in 2 c...
journal_title:Annals of diagnostic pathology
pub_type: 杂志文章
doi:10.1016/j.anndiagpath.2016.05.002
更新日期:2016-08-01 00:00:00
abstract::A polypoid malignant rhabdoid tumor of the duodenum is presented. The pattern of metastatic spread in this 58-year-old man included multiple duodenal and small intestinal transmural tumor implants and a large peribronchial lymph node causing superior vena cava syndrome. Microscopically, the tumor was composed of a dif...
journal_title:Annals of diagnostic pathology
pub_type: 杂志文章
doi:10.1016/s1092-9134(98)80032-4
更新日期:1998-02-01 00:00:00
abstract::Cholesteryl Ester Storage Disease (CESD), is a rare multisystem autosomal recessive disorder and belongs to the broad family of lysosomal storage disorders. It can present anytime from infancy and childhood to even adulthood. The clinical manifestations are generally severe in infants and with milder forms in adults. ...
journal_title:Annals of diagnostic pathology
pub_type: 杂志文章,评审
doi:10.1016/j.anndiagpath.2017.02.005
更新日期:2017-12-01 00:00:00
abstract::Oral lichen planus (OLP) is a potentially malignant disorder associated with an increased risk for progression to oral squamous cell carcinoma (OSCC). The objective of this study to determine protein expression of cancer stem cell marker CD133 in tissue samples of patients with OLP and evaluate the correlation between...
journal_title:Annals of diagnostic pathology
pub_type: 杂志文章
doi:10.1016/j.anndiagpath.2013.06.004
更新日期:2013-12-01 00:00:00
abstract::The aim of this study was to evaluate the morphological spectrum of chromophobe renal cell carcinoma (CRCC) and diagnostic utility of a panel of three immunohistochemical stains. All cases of CRCC reported between 2002 and 2012 in the Section of Histopathology, Aga Khan University Hospital, were retrieved. A total of ...
journal_title:Annals of diagnostic pathology
pub_type: 杂志文章
doi:10.1016/j.anndiagpath.2013.06.005
更新日期:2013-12-01 00:00:00
abstract::Folate receptor alpha (FRα) is a membrane-bound protein with a high affinity for folate, which is necessary for the biosynthesis of amino acids and nucleotide bases. It has been shown to be a potential prognostic and therapeutic target, primarily in lung and ovarian cancer, as well as in breast cancer. The aim of this...
journal_title:Annals of diagnostic pathology
pub_type: 杂志文章
doi:10.1016/j.anndiagpath.2020.151596
更新日期:2020-10-01 00:00:00
abstract::Papillary thyroid microcarcinoma (PTMC) has the highest incidence among all thyroid carcinomas. Although surgery is the primary treatment for PTMC, it inevitably leads to trauma and some complications. To formulate an optimal treatment strategy, we aim to clarify the risk factors for lymph node metastasis (LNM) in PTM...
journal_title:Annals of diagnostic pathology
pub_type: 杂志文章
doi:10.1016/j.anndiagpath.2020.151647
更新日期:2020-12-01 00:00:00
abstract::Three cases of cutaneous pseudosarcomatous polyp, a lesion recently described in the dermatopathology literature, are reported here. These benign proliferations display dramatic cytologic pleomorphism, but despite their disquieting morphological features, they have behaved in a benign fashion to date. All 3 lesions in...
journal_title:Annals of diagnostic pathology
pub_type: 杂志文章
doi:10.1016/j.anndiagpath.2007.05.004
更新日期:2008-12-01 00:00:00
abstract::To test the hypothesis of whether cellular blue nevi (CBN) may originate from "ordinary" compound and dermal nevi, a total of 275 melanocytic nevi including 59 CBN, 34 ordinary blue nevi, 87 combined nevi (including 43 so-called clonal nevi), 35 deep penetrating nevi, and 60 ordinary compound and dermal nevi (30 of ea...
journal_title:Annals of diagnostic pathology
pub_type: 杂志文章
doi:10.1016/j.anndiagpath.2007.03.001
更新日期:2007-06-01 00:00:00
abstract::Pseudomesotheliomatous carcinoma is a rare variant of peripheral adenocarcinoma of the lung that can manifest clinical, radiologic, and pathologic features similar to malignant mesothelioma. We present three patients with pseudomesotheliomatous carcinoma of the lung. In one patient the carcinoma extended beyond the th...
journal_title:Annals of diagnostic pathology
pub_type: 杂志文章
doi:10.1016/s1092-9134(99)80042-2
更新日期:1999-06-01 00:00:00
abstract::A 54-year-old man presented to his doctor with hematemesis and was found at endoscopy to have an ulcerated lesion in his stomach. A computed tomography scan was performed and revealed a mass in the fundus of the stomach. Multiple other lesions were identified in the liver, lungs, retroperitoneal space, and mesentery. ...
journal_title:Annals of diagnostic pathology
pub_type: 杂志文章
doi:10.1016/j.anndiagpath.2004.03.005
更新日期:2004-06-01 00:00:00
abstract::Although the lumen of the urinary bladder is covered with only urothelial epithelium, malign glandular lesions (eg, nonurachal adenocarcinoma) and benign lesions (eg, cystitis cystica and cystitis glandularis) can also rarely occur in this site due to its characteristic embryologic development. Glandular differentiati...
journal_title:Annals of diagnostic pathology
pub_type: 杂志文章
doi:10.1016/j.anndiagpath.2011.06.003
更新日期:2011-12-01 00:00:00
abstract::Intradiploic inclusion cyst of the skull presenting as a calvarial defect is fairly uncommon in the neuroscience practice. They are benign in nature, slow to grow, and clinically difficult to differentiate from other causes of calvarial defects. We present a case of a healthy 55-year-old woman who presented clinically...
journal_title:Annals of diagnostic pathology
pub_type: 杂志文章
doi:10.1016/j.anndiagpath.2005.07.007
更新日期:2006-02-01 00:00:00
abstract::Only 1% of gynecological neoplasms are vaginal, and mesenchymal tumors constitute only 2% of vaginal neoplasms. The most common form is leiomyomas. Schwannomas arise from the peripheral nerve sheath. We report a case of vaginal schwannoma associated with uterine myoma. A 52-year-old woman presented with lower abdomina...
journal_title:Annals of diagnostic pathology
pub_type: 杂志文章
doi:10.1016/j.anndiagpath.2009.06.012
更新日期:2010-04-01 00:00:00
abstract::In the recent years, basaloid squamous cell carcinomas (BSCCs) have gained attention because of (1) observation of a relative increase in the number of tumors arising particularly in head and neck sites, (2) identification of human papillomavirus (HPV) in BSCCs arising predominantly in the oropharynx, and (3) controve...
journal_title:Annals of diagnostic pathology
pub_type: 杂志文章,评审
doi:10.1016/j.anndiagpath.2013.09.001
更新日期:2013-12-01 00:00:00
abstract::The appropriate follow-up and treatment for patients with a core biopsy diagnosis of lobular neoplasia (atypical lobular hyperplasia or lobular carcinoma in situ) remains controversial. Several studies have attempted to address this issue, with recommendations ranging from close clinical follow-up or surveillance to m...
journal_title:Annals of diagnostic pathology
pub_type: 杂志文章
doi:10.1016/j.anndiagpath.2016.07.009
更新日期:2016-12-01 00:00:00
abstract::In hematoxylin-eosin-stained sections of 20 pediatric sarcomas the mitotic index was assessed by four experienced pathologists and four less-experienced observers without prior instructions. In adjacent sections immunolabeled for MIB-1, the proliferation index was assessed as the estimated percentage of labeled cells ...
journal_title:Annals of diagnostic pathology
pub_type: 杂志文章
doi:10.1053/adpa.2000.8126
更新日期:2000-08-01 00:00:00
abstract::Malacoplakia is a benign and uncommon inflammatory response that develops most frequently in the genitourinary tract but has been reported at other sites. We report the case of 67-year-old man who presented with a lesion at the base of the tongue 7 months after chemoradiation for biopsy-proven invasive squamous cell c...
journal_title:Annals of diagnostic pathology
pub_type: 杂志文章,评审
doi:10.1016/j.anndiagpath.2011.02.001
更新日期:2012-06-01 00:00:00
abstract::Medullary thyroid carcinoma (MTC) is an uncommon thyroid cancer comprising 5% to 8% of thyroid neoplasms. In contrast to common thyroid tumors, this tumor originates from the calcitonin-producing C cells. Regional metastases to cervical lymph nodes occur early in the disease, whereas distant metastasis occurs late. Co...
journal_title:Annals of diagnostic pathology
pub_type: 杂志文章
doi:10.1016/j.anndiagpath.2006.08.004
更新日期:2008-02-01 00:00:00
abstract::Mammary analogue secretory carcinoma (MASC) is a recently described tumor sharing the histologic, immunohistochemical, and molecular profile of secretory carcinoma of breast. We aimed to evaluate the morphologic and histochemical features needed/required for the diagnosis of MASC without adjunct of molecular analysis....
journal_title:Annals of diagnostic pathology
pub_type: 杂志文章
doi:10.1016/j.anndiagpath.2016.04.003
更新日期:2016-06-01 00:00:00
abstract::To explore the distribution of lymphoid neoplasms in Northwest China, the clinical and pathological data of lymphoma patients from 2006 to 2014 were analyzed according to the WHO classification in Xijing Hospital. Of the 3244 cases, mature B-cell neoplasms occupied 60.7%, while mature T/NK-cell neoplasms and Hodgkin's...
journal_title:Annals of diagnostic pathology
pub_type: 杂志文章
doi:10.1016/j.anndiagpath.2017.05.005
更新日期:2018-06-01 00:00:00
abstract::Recently, renal angiomyoadenomatous tumor (RAT) has been identified. However, there are no descriptions about clear cell renal cell carcinoma (RCC) with focal RAT-like features. A 33-year-old Japanese man was found to have a tumor in the left kidney. Macroscopically, the tumor extended into the perinephric fat tissue,...
journal_title:Annals of diagnostic pathology
pub_type: 杂志文章
doi:10.1016/j.anndiagpath.2010.03.003
更新日期:2011-06-01 00:00:00
abstract::Acral lentiginous melanoma is a rare variant of melanoma that is associated with a relatively low survival rate. The latter is partly due to the advanced stage in which the tumor is usually diagnosed. The diagnostic delay is mainly due to difficulties in identifying the very early histopathological signs of acral mela...
journal_title:Annals of diagnostic pathology
pub_type: 杂志文章,评审
doi:10.1016/j.anndiagpath.2016.08.005
更新日期:2017-02-01 00:00:00
abstract::We present the cases of 2 pediatric patients with low-grade nasopharyngeal papillary adenocarcinoma with features suggestive of thyroid origin. Both cases showed strong nuclear immunoreactivity for thyroid transcription factor-1 protein and positive immunostaining for cytokeratins 7 and 19. After thyroid imaging studi...
journal_title:Annals of diagnostic pathology
pub_type: 杂志文章
doi:10.1016/j.anndiagpath.2005.04.019
更新日期:2005-08-01 00:00:00
abstract::Adrenocortical oncocytoma is exceptionally rare. Most of these tumors are benign and nonfunctioning. We report a case of functioning adrenocortical oncocytoma located in the right adrenal gland in a 53-year-old woman who presented with Cushing's syndrome. The tumor was small, with exclusively oncocytic histologic feat...
journal_title:Annals of diagnostic pathology
pub_type: 杂志文章
doi:10.1016/j.anndiagpath.2005.05.005
更新日期:2005-10-01 00:00:00
abstract::Pancreatic ectopia in the mediastinum is rare, and there are no reports that it has ever given rise to malignancy. Here we report a case of adenocarcinoma arising in ectopic pancreatic tissue in the mediastinum of a 66-year-old woman. The tumor arose in a partially cystic and partially solid ectopic pancreas containin...
journal_title:Annals of diagnostic pathology
pub_type: 杂志文章,评审
doi:10.1016/j.anndiagpath.2011.04.005
更新日期:2012-12-01 00:00:00
abstract::Malignant vascular neoplasms such as epithelioid hemangioendothelioma (EHE) and angiosarcoma (AS) can arise within the liver. The aim of this study was to study the expression of keratins CK7, AE1/AE3 and OSCAR in primary hepatic EHE and AS. 9 cases of hepatic EHE and 13 cases of hepatic AS were stained with ERG, CK7,...
journal_title:Annals of diagnostic pathology
pub_type: 杂志文章
doi:10.1016/j.anndiagpath.2020.151589
更新日期:2020-12-01 00:00:00
abstract:BACKGROUND:Differentiated squamous intraepithelial lesion (dSIL) is morphologically and immunohistochemically analogous in the whole anogenital region. dSIL is a premalignant lesion frequently misinterpreted histopathologically as a benign dermatosis. The authors describe a peculiar change in the basal cell layer of th...
journal_title:Annals of diagnostic pathology
pub_type: 杂志文章
doi:10.1016/j.anndiagpath.2016.11.002
更新日期:2017-02-01 00:00:00
abstract::Proper interpretation of transbronchial biopsies is critical for appropriate patient management. Artifacts in lung tissue acquired during the biopsy procedure or subsequent processing may mimic "true" disease and potentially lead to incorrect diagnoses. In this study the interpretation of various artifacts in transbro...
journal_title:Annals of diagnostic pathology
pub_type: 杂志文章
doi:10.1053/adpa.2003.50003
更新日期:2003-02-01 00:00:00