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. One of the prominent sites of involvement is liver. Due to low awareness of this condition among physicians including surgical pathologists, majority of the liver biopsies, especially from the adults are often misdiagnosed as non-alcoholic fatty liver disease/non-alcoholic steatohepatitis or cryptogenic cirrhosis. Given the recent availability of safe and effective enzyme replacement therapy that can alter the natural course of CESD, the pathologists signing out adult and pediatric liver biopsies should be aware of this entity, thus contributing to timely patient management. This review discusses the clinical features, pathogenesis, diagnostic approach, differential diagnosis and management of CESD in adults.
journal_name
Ann Diagn Patholjournal_title
Annals of diagnostic pathologyauthors
Pant M,Oshima Kdoi
10.1016/j.anndiagpath.2017.02.005subject
Has Abstractpub_date
2017-12-01 00:00:00pages
66-70eissn
1092-9134issn
1532-8198pii
S1092-9134(17)30038-2journal_volume
31pub_type
杂志文章,评审abstract：:We report a case of synovial chondromatosis of the tibiofibular joint in a 25-year-old woman that was diagnosed by fine-needle aspiration (FNA). The patient presented with pain in the left knee and a mass in the popliteal fossa. Synovial chondromatosis usually presents with joint symptoms and is often associated with ...
journal_title：Annals of diagnostic pathology
pub_type： 杂志文章
doi：10.1016/s1092-9134(00)90015-7
更新日期：2000-04-01 00:00:00
abstract：:The purpose of this study is to assess whether composite or coordinate immunoexpression patterns of estrogen receptor (ER), progesterone receptor (PR), and Wilms tumor 1 (WT1) gene can significantly distinguish between endometrial serous carcinoma (ESC) and ovarian serous carcinoma (OSC). Immunohistochemical analyses ...
journal_title：Annals of diagnostic pathology
pub_type： 杂志文章
doi：10.1016/j.anndiagpath.2013.04.011
更新日期：2013-10-01 00:00:00
abstract：:Four soft tissue tumors corresponding with the previously reported parachordoma are described. Three of the patients were men, and one was a woman, and their ages ranged from 14 to 53 years (mean age, 29). The tumors were located either superficially or within muscle, and, in one case, involved a tendon. Histologicall...
journal_title：Annals of diagnostic pathology
pub_type： 杂志文章
doi：10.1016/s1092-9134(97)80003-2
更新日期：1997-10-01 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：:The aim of this prospective study is to establish the frequency and the type (neoplastic and nonneoplastic) lesions defined endoscopically as flat elevated lesion (FEL) in the colon and rectum, as well as to compare flat adenomas (FAs) to polypoid lesions of the same size with morphometric and immunohistochemical anal...
journal_title：Annals of diagnostic pathology
pub_type： 杂志文章
doi：10.1016/j.anndiagpath.2006.03.003
更新日期：2006-12-01 00:00:00
abstract：:Pleomorphic lobular carcinoma (PLC) is a distinct morphological variant of invasive lobular carcinoma (ILC). Although PLC retains the distinctive loosely cohesive and single-file growth pattern of ILC, it has specific distinguishable characteristics, including enlarged nuclei with greater nuclear irregularity, increas...
journal_title：Annals of diagnostic pathology
pub_type： 杂志文章,评审
doi：10.1016/j.anndiagpath.2011.10.001
更新日期：2012-06-01 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：:Mucinous tubular and spindle cell carcinoma (MTSCC) has recently been integrated into the World Health Organization classification. Although MTSCC is generally a low-grade carcinoma, MTSCC with high-grade morphology has been recently reported. We present the first case of high-grade MTSCC with comparative genomic hybr...
journal_title：Annals of diagnostic pathology
pub_type： 杂志文章
doi：10.1016/j.anndiagpath.2010.08.003
更新日期：2011-12-01 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：:Systemic anaplastic large-cell lymphoma is an uncommon type of non-Hodgkin lymphoma characterized by strong expression of the Ki-1 (CD30) antigen. Gastrointestinal involvement typically is less common than in other types of non-Hodgkin's lymphoma. We report a case of CD30-positive anaplastic large-cell lymphoma occurr...
journal_title：Annals of diagnostic pathology
pub_type： 杂志文章,评审
doi：10.1053/adpa.2001.25408
更新日期：2001-06-01 00:00:00
abstract：:Agranulomatous interstitial pneumonia is a form of diffuse lung disease in which granulomas are a component of the histologic findings. The differential diagnosis is quite broad, but most cases represent examples of either sarcoidosis, diffuse granulomatous infections, or hypersensitivity pneumonitis. "Hot tub lung" i...
journal_title：Annals of diagnostic pathology
pub_type： 杂志文章,评审
doi：10.1053/adpa.2003.50018
更新日期：2003-04-01 00:00:00
abstract：:Nasopharyngeal carcinoma represents a morphologic spectrum of neoplasms localized to the nasopharynx and arising from nasopharyngeal epithelium. Nasopharyngeal carcinomas have rather unique clinical, epidemiologic, pathologic, and biologic features. The morphologic spectrum of nasopharyngeal carcinoma includes keratin...
journal_title：Annals of diagnostic pathology
pub_type： 杂志文章,评审
doi：10.1016/s1092-9134(99)80017-3
更新日期：1999-12-01 00:00:00
abstract：:Parotid masses remain challenging secondary to the great diversity of primary tumors that may arise in the salivary glands and propensity for regional and even distant metastases to occur in this region. Meningioma must also be considered in the differential diagnosis of parotid masses, whether from direct extension, ...
journal_title：Annals of diagnostic pathology
pub_type： 杂志文章
doi：10.1016/j.anndiagpath.2011.08.006
更新日期：2012-04-01 00:00:00
abstract：:Myofibrosarcomas of the tibia are exceedingly rare, with only one case reported in the literature. We describe DNA ploidy of high-grade myofibrosarcoma of the tibia in correlation with clinicomorphologic and ultrastructural features in a 16-year-old adolescent girl. Radiological studies revealed an expanding osteolyti...
journal_title：Annals of diagnostic pathology
pub_type： 杂志文章
doi：10.1016/j.anndiagpath.2007.04.002
更新日期：2007-10-01 00:00:00
abstract：:Only 10 cases of lymphoepithelioma-like carcinoma of the breast have been reported in the literature. This report adds one more case to the published literature. A 62-year-old woman presented with a mass in her left breast on physical examination. The mammographic images showed a 3.0 cm, poorly defined mass in the upp...
journal_title：Annals of diagnostic pathology
pub_type： 杂志文章
doi：10.1016/j.anndiagpath.2004.07.012
更新日期：2004-10-01 00:00:00
abstract：:Merkel cell carcinoma (MCC) is a rare, clinically aggressive primary cutaneous neuroendocrine carcinoma. The present series describes clinicopathological features of 16 MCCs diagnosed at a tertiary cancer referral center. Sixteen MCCs occurred in 10 men and 6 women (M/F = 1.6:1), between the ages 37 and 74 years (mean...
journal_title：Annals of diagnostic pathology
pub_type： 杂志文章
doi：10.1016/j.anndiagpath.2015.07.006
更新日期：2015-10-01 00:00:00
abstract：:We describe 2 adult women (72 and 54 years), 1 with a low-grade noninvasive papillary urothelial carcinoma of the renal pelvis, who 14 years later developed a papillary carcinoma in 1 thyroid lobe and a medullary carcinoma in the contralateral lobe. Both neoplasms were similar in size and appeared symmetrical. Despite...
journal_title：Annals of diagnostic pathology
pub_type： 杂志文章
doi：10.1016/j.anndiagpath.2014.08.003
更新日期：2014-10-01 00:00:00
abstract：:The urinary bladder may be involved by a variety of secondary tumors that originate from other organs. Bladder secondary tumors are rare and may be mistaken as bladder primary tumors because of their overlapping morphologic features. To avoid the diagnostic pitfalls, we analyzed the clinicopathologic features of bladd...
journal_title：Annals of diagnostic pathology
pub_type： 杂志文章
doi：10.1016/j.anndiagpath.2020.151593
更新日期：2020-10-01 00:00:00
abstract：:The ventricular assist device (VAD) is a mechanical pump that has been shown to be an effective modality of cardiac support in patients with heart failure refractory to pharmacologic intervention and who are awaiting cardiac allograft transplantation. Neuropathologic findings in these patients have not been well descr...
journal_title：Annals of diagnostic pathology
pub_type： 杂志文章
doi：10.1053/adpa.2001.23019
更新日期：2001-04-01 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：:A 76-year-old man presented with a tumoral lesion in his penis that had all the light microscopic and immunohistochemical features of a squamous cell carcinoma with rhabdoid phenotype. We believe that this is the fourth reported case of squamous cell carcinoma with rhabdoid features and the first one located in the pe...
journal_title：Annals of diagnostic pathology
pub_type： 杂志文章
doi：10.1053/adpa.2002.36654
更新日期：2002-12-01 00:00:00
abstract：:Recent histopathologic and molecular studies of trophoblastic cells in the normal placenta and in a variety of trophoblastic diseases have revealed that the latter recapitulate the differentiation of normal trophoblast in the early developing placenta. This new knowledge, especially the identification and characteriza...
journal_title：Annals of diagnostic pathology
pub_type： 杂志文章,评审
doi：10.1016/j.anndiagpath.2007.04.001
更新日期：2007-06-01 00:00:00
abstract：:Sclerosing mediastinitis (SM) is an aggressive fibroproliferative process in the mediastinum that may lead to encasement of mediastinal structures within a dense fibrotic mass. This disease may cause significant clinical complications, morbidity, and even mortality. The etiology and pathogenesis of SM is unclear and i...
journal_title：Annals of diagnostic pathology
pub_type： 杂志文章
doi：10.1016/j.anndiagpath.2017.01.004
更新日期：2017-04-01 00:00:00
abstract：:A 34-year-old pregnant woman with bilateral kidney tumors 9.5 and 2.5 cm in maximum diameter is presented. The larger tumor was clear renal cell carcinoma. The smaller contralateral tumor was focally HMB45 positive and had unusual histomorphology, including features resembling clear renal cell carcinoma with features ...
journal_title：Annals of diagnostic pathology
pub_type： 杂志文章
doi：10.1016/j.anndiagpath.2010.05.004
更新日期：2011-10-01 00:00:00
abstract：:According to colleagues specializing in genitourinary pathology, the so-called postoperative spindle cell nodule of the bladder can be extremely difficult to distinguish from a spindle cell sarcomatoid carcinoma. What I have learned in 25 years about spindle cell sarcomatoid carcinoma of the larynx may, by analogy, po...
journal_title：Annals of diagnostic pathology
pub_type： 杂志文章,评审
doi：10.1053/j.anndiagpath.2004.01.009
更新日期：2004-04-01 00:00:00
abstract：:Mississippi has the highest prevalence of blastomycosis in the country. In 20 years and 5 months there were 123 patients treated for blastomycosis at the University of Mississippi Medical Center. Among these, 107 patients had lung involvement and nine patients (8.4%) developed acute respiratory distress syndrome. Seve...
journal_title：Annals of diagnostic pathology
pub_type： 杂志文章,评审
doi：10.1053/adpa.2001.21473
更新日期：2001-02-01 00:00:00
abstract：:Brain in the middle ear or nasal cavity: heterotopia or encephalocele? The answer to this question is greatly influenced by clinical information. Sometimes, however, this information is insufficient and the pathologist's opinion may influence patient management. It seems that most pathologists tend to get the answer w...
journal_title：Annals of diagnostic pathology
pub_type： 杂志文章,评审
doi：10.1053/j.anndiagpath.2004.04.009
更新日期：2004-08-01 00:00:00
abstract：AIM:Tumour-infiltrating T lymphocytes (TIL) are considered to be a reliable prognostic marker in CC, but the use in daily practice is unclear. We investigated the survival effect of TIL methodologically in a highly homogeneous population. METHODS:Seventy-two stage IIA (T3N0) CC patients who underwent surgical resectio...
journal_title：Annals of diagnostic pathology
pub_type： 杂志文章
doi：10.1016/j.anndiagpath.2019.05.007
更新日期：2019-08-01 00:00:00
abstract：:We reviewed breast tissue from 19 female postpubertal and three prepubertal patients with cystic fibrosis to determine the histopathologic changes present. Autopsy material was available from 19 patients who died from complications of cystic fibrosis. Two patients had lumpectomies for breast carcinoma and an additiona...
journal_title：Annals of diagnostic pathology
pub_type： 杂志文章
doi：10.1016/s1092-9134(98)80019-1
更新日期：1998-10-01 00:00:00
abstract：BACKGROUND:Anal cytology (AC) is accepted as a practical screening modality for anal cancer. However, studies suggest that AC and anal biopsy dysplasia correlation is less robust than in cervicovaginal specimens. The current study goals were to look at our institutional experience in a subset of ACs and correlate with ...
journal_title：Annals of diagnostic pathology
pub_type： 杂志文章
doi：10.1016/j.anndiagpath.2020.151670
更新日期：2020-11-20 00:00:00
