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Fine-needle aspiration of cystic parotid glands lesions: an institutional review of 46 cases with histologic correlation.

BACKGROUND: Many case reports describing various benign and malignant disease entities diagnosed in cystic parotid gland lesions by fine-needle aspiration (FNA) exist in the literature. Very few studies, however, discuss the efficacy and the diagnostic difficulties of FNA cytology in such lesions. The authors report a 5-year institutional experience with FNA cytology of cystic parotid gland lesions and address the accuracy of the procedure and avoidance of diagnostic pitfalls. METHODS: A retrospective review of 46 cases in which patients clinically presented with cystic parotid gland lesions was done from a total of 221 parotid FNAs performed over a 5-year period at the University of Pennsylvania Medical Center. The clinical features, cytology, and follow-up surgical pathology were reviewed to determine diagnostic accuracy and highlight potential pitfalls. RESULTS: Based on subsequent surgical excision in 29 of the 46 cases of cystic parotid gland lesions, a diagnostic accuracy rate of 83% was obtained for FNA. Approximately 20% (9 of 46 cases) were found to be clinically significant tumors and included 4 mucoepidermoid and 1 adenocarcinoma (NOS), 3 benign mixed tumors, and 1 metastatic melanoma. Three major factors were implicated as diagnostic pitfalls in our series: 1) failure to obtain critical clinical information, 2) overinterpretation of paucicellular specimens, and 3) failure to realize that certain tumors generally perceived as solid masses can present clinically as cystic lesions. CONCLUSIONS: FNA cytology is a valuable tool in the primary diagnosis and management of cystic parotid gland lesions. The diagnostic accuracy of this procedure can be significantly improved by acquiring a detailed clinical history, obtaining an adequate cellular specimen, and having knowledge of the variety and frequencies of possible diagnostic entities that may present as cystic parotid gland lesions.

Adult↗

Cytology of lleal conduit urine in bladder cancer patients: diagnostic utility and pitfalls.

OBJECTIVE: To study the cytomorphology of urine obtained from the ileal conduit and to determine its utility and identify the pitfalls. STUDY DESIGN: Urine specimens from 469 cases of suspected or proven bladder cancer received over a period of 5 years were analyzed in the cytology laboratory. In 35 cases, total bladder resection was followed by ileal conduit reconstruction. The follow-up cytologic analysis of these 35 ileal conduit cases formed the basis of this study. RESULTS: There was absence of urothelial cells in all but 2 cases. The smear predominantly showed small, scattered intestinal mucosal cells with pyknotic nuclei, extensive karyorrhexis and numerous bacteria. In 2 cases, cytology proved superior to endoscopy and radiology in detecting recurrent disease. We had 2 false negative cases, and the negativity was attributed to sampling errors. There was 1 false positive case in which 3-dimensional clusters of intestinal columnar cells were erroneously diagnosed as adenocarcinoma. CONCLUSION: Urine obtained from ileal conduit specimens shows a smear picture that is different from that of specimens from the bladder. Thus, it is imperative to understand the difference between the cytomorphology of bladder urine and ileal conduit urine, to minimize the pitfalls and increase diagnostic utility.

Bacteria↗

[Sarcoidosis in flying personnel].

The 10-year database of the Central military clinical aviation hospital was used to analyze protocols of medical discharge of military flyers with sarcoidosis in comparison to other respiratory pathologies. Consideration was given to the pathology incipience, age specifics, and diagnostic pitfalls. Self-descriptiveness of the diagnostic methods was compared and effectiveness of various therapeutic courses was evaluated. Conclusions of the analysis were embodied in a clinical-therapeutic-certification algorithm for dynamic sarcoidosis prediction in flying personnel.

Aerospace Medicine↗

Fine-needle aspiration biopsy of vertebral and intervertebral disc lesions: specimen adequacy, diagnostic utility, and pitfalls.

BACKGROUND AND OBJECTIVES: Fine-needle aspiration biopsy (FNAB) is used extensively in the clinical workup of radiologically detected bony lesions. The aims of this study were to evaluate the diagnostic utility of FNAB of such radiologically detected vertebral and intervertebral disc lesions in patients with and without a known primary malignancy, to establish criteria for specimen adequacy, and to evaluate the diagnostic pitfalls. DESIGN: The cytologic material obtained by FNAB performed under computed tomographic guidance of 78 cases comprising 66 vertebral and 12 intervertebral disc lesions was reviewed and analyzed. The initial cytologic diagnosis was compared with the diagnosis after review in all 78 cases. RESULTS: Thirty-five cases (45%) were positive for malignancy, 1 case (1.3%) was suspicious for malignancy, 9 (11.5%) consisted of normal cellular elements with no evidence of malignancy, 21 (27%) were unsatisfactory/inadequate for diagnosis, and 12 (15.2%) were benign nonneoplastic lesions. Nonneoplastic lesions diagnosed included fracture callus, discitis/osteomyelitis, degenerative disc disease, and Paget disease. In 11 cases, FNAB gave the initial diagnosis of malignancy (8 occult carcinomas and 3 plasmacytomas). In 23 out of 36 cases with a clinical history of a known primary tumor, FNAB established the diagnosis of metastases, and in 1 case, a second primary was detected. CONCLUSIONS: Fine-needle aspiration biopsy of radiologically suspected vertebral and intervertebral disc lesions in patients with a history of a known malignancy is useful to confirm the presence of metastases. In cases without any history of malignancy, FNAB can provide additional clues to aid in the subsequent workup and treatment of cases diagnosed with an unsuspected malignancy and other nonneoplastic lesions. Through assessment of the specimen adequacy, correct interpretation of the cytologic material available, and correlating with the clinical and radiologic findings, a definitive diagnosis can be made in most cases.

Adult↗

[Fine needle cytology of the thyroid gland].

BACKGROUND: Application of fine needle cytology (FNC) is important in the preoperative assessment of thyroid lesions. The method is rapid, minimally invasive and cost effective. The aim of this study was to evaluate the role of fine needle cytology at The Norwegian Radium Hospital in the management of thyroid nodules. MATERIAL AND METHODS: Data on FNC and comparable histology results were retrieved from the pathology database during the 5-year-period 1998 through 2003. 1770 FNC samples and corresponding histology results from 443 lesions were compared. Reviews of cytological slides were done in 39 discrepant cases and quality assessment parameters calculated. RESULTS: High complete sensitivity (77.5%) and specificity (90.1%) were found. The false positive rate was 1.2% and the false negative rate 23.7%. Inadequate FNCs were particularly seen in submitted specimens. A review of the discrepant cases showed that the main cause of false negative samples was sampling error. Micropapillary carcinoma was the predominant tumour type with false negative FNC. Eleven malignancies were diagnosed in repeat FNC specimens. INTERPRETATION: FNC is a highly reliable test to assess whether a thyroid nodule is benign or malignant. Diagnostic pitfalls are mainly due to inability to procure the diagnostic material.

Biopsy, Fine-Needle↗

Pitfalls in thyroid tumour pathology.

This review provides an itemized listing of major diagnostic pitfalls in the field of thyroid tumour pathology, emphasizing the features that the authors have found most useful in their recognition and avoidance.

Diagnosis, Differential↗

Fine-needle aspiration of the breast: diagnoses and pitfalls. A review of 3545 cases.

Fine-needle aspiration is now a recognized diagnostic tool. In the past eight years we have studied 3545 aspirates from the breast, including both cystic and solid masses. All were prepared according to the method of Papanicalaou. The cellular findings are described and discussed. Abnormal cells were found in the aspirates from 90% of the 368 malignancies. Reliable criteria for diagnosis are emphasized and diagnostic pitfalls discussed. Aspiration biopsy was helpful in the management of all patients with breast lesions. The method is rapid, accurate, and essentially complication-free. It should be used with the idea of complementing, not competing with, routine histologic biopsy.

Adenofibroma↗

Diagnostic advantages of manual compression fluoroscopy in the radiologic work-up of vomiting neonates.

This paper describes a simple and effective fluoroscopic technique that remarkably improves diagnostic accuracy when evaluating vomiting newborns. The technique also minimizes the time of the examination and the radiation dose to the patient and radiology personnel. Several examples are presented illustrating the superiority of gloved hand or nonopaque compression technique to conventional contrast radiography, emphasizing babies with pyloric stenosis and midgut malrotation. The technical limitations and diagnostic pitfalls of conventional contrast modalities are compared to the highly diagnostic images obtained with manual compression fluoroscopy. All of the classic radiographic signs of pyloric stenosis can be mimicked by antral spasm or pylorospasm. Gloved hand compression overcomes antral spasm and clearly shows the true length and diameter of the pyloric canal in these two conditions. Malposition of the duodenojejunal junction is the only consistently diagnostic sign of midgut malrotation. Nonfixation of the duodenojejunal junction can be competently assessed by compression fluoroscopy, confirming malrotation and midgut volvulus simultaneously and bringing the patient to operation much sooner than with less precise conventional techniques. Gloved hand compression technique also evaluates stenotic areas in the upper gastrointestinal tract, distinguishing spasm from organic marrowing and clearly identifying those which need surgical intervention. Facilitating intubation of the duodenum is a final contribution of compression fluoroscopy.

False Negative Reactions↗

The value of ultrasound-guided fine-needle aspiration cytology for thyroid nodules: an assessment of its diagnostic potential and pitfalls.

This study was conducted to assess the diagnostic potential and pitfalls of performing fine-needle aspiration cytology (FNAC) for thyroid nodules. We retrospectively analyzed 1,012 aspirated samples obtained from 806 thyroid nodules by the ultrasound (US)-guided method. Of these 806 nodules, 226 (31%) had been surgically treated, 152 (67%) of which were histologically diagnosed as malignant. The rate of sufficient aspirate was 82%, being lower in nodules with a diameter of less than 5mm (73%, P = 0.10); either calcified (77%, P = 0.043) or benign (72%, P = 0.0002). The accuracy of FNAC was 75%, the rate of indeterminate diagnosis was 16%, the false negative rate was 13%, and the positive malignancy rate was 99%. The rate of indeterminate diagnosis was higher in adenomatous goiter, follicular carcinoma, and malignant lymphoma, at P = 0.015, P = 0.0008, and P = 0.035, respectively. The accuracy was lower in follicular carcinoma and malignant lymphoma (both at P = 0.013). Sufficient aspirate was finally obtained from 701 (87%) of the 806 nodules by repeated aspiration. Of 152 malignant nodules, 28 (18%) were diagnosed after two or more aspirations, and the accuracy was improved to 81% by repeating the procedure. These findings indicated that repeated aspiration may be a simple and effective method of improving the diagnostic potential of FNAC.

Adenocarcinoma, Follicular↗

Pitfalls in pituitary diagnosis: peculiarities of three cases.

Due to the increasing availability and sensitivity of diagnostic methods, biochemical and imaging abnormalities of pituitary function and anatomy are becoming more frequent. Hyperprolactinaemia was found in three women without any prolactin (PRL) related clinical features. All three patients had normal libido, regular menses with evidence of ovulation, no galactorrhoea, and normal FSH, LH, TSH and free T4 serum levels. Magnetic resonance imaging (MRI) of the sellar region showed images that were compatible with pituitary microadenomas in all three cases. Due to the discordance between laboratory and clinical features, we searched for the presence of PRL aggregates with high molecular weight and low biological activity (macroprolactinaemia). Initially, we screened with a polyethylene glycol precipitation method, and then confirmed the presence of macroprolactinaemia by chromatography. All three cases screened positive for the presence of macroprolactinaemia. MRI alterations, compatible with pituitary microadenomas, may be due to true microincidentalomas, normal anatomical variations or imaging artefacts. In conclusion, we have described the presence of double diagnostic pitfalls that might lead to unnecessary medical or surgical intervention.

Adenoma↗

Concurrence of Pendred syndrome, autoimmune thyroiditis, and simple goiter in one family.

Pendred syndrome is the autosomal recessively transmitted association of familial goiter and congenital deafness. There is no specific biochemical marker of this disease, and the diagnosis depends upon the demonstration of the triad of congenital sensorineural hearing loss, goiter, and abnormal perchlorate discharge test. Pendred syndrome is caused by mutations within the putative ion transporter gene (PDS gene), located on chromosome 7q. A wide variation in the clinical presentation of this condition, and its well documented phenotypic overlap with other thyroid disorders (such as Hashimoto's thyroiditis), can lead to diagnostic difficulties. The potential for misdiagnosis increases when these disorders occur coincidentally in the same family. We describe a kindred in which Pendred syndrome, autoimmune thyroiditis, and simple goiter coexisted, to highlight these diagnostic pitfalls and to illustrate the use of mutational analysis in resolving diagnostic confusion.

Adult↗

Real-time ultrasonography--an efficient screening method for abdominal and pelvic lymphadenopathy.

Real-time ultrasonography of the abdomen and pelvis was performed in 129 patients with malignant lymphoma and malignant tumors in the course of clinical and pathological staging. The results of real-time ultrasonography were compared with the findings of computed tomography, lymphography and staging laparotomy. Analysis of the data indicated a sensitivity of 72,6% a specificity of 88,8% and an overall accuracy of 78.3%. Real-time ultrasonography, thus, proved to be an efficient screening method for abdominal and pelvic lymphadenopathy. It can reduce the number of lymphographies as well as abdominal CT examinations. Sonographic anatomy of the lymph system and the varying features of lymphomatous involvement in the peritoneal cavity and retroperitoneal space are described, diagnostic pitfalls and the clinical importance of real-time ultrasonography in the diagnostic work-up in patients with adenopathy are detailed.

Abdominal Neoplasms↗

Niemann-Pick disease type A and B are clinically but also enzymatically heterogeneous: pitfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation Q292 K.

This study describes a diagnostic pitfall in the laboratory diagnosis of patients with sphingomyelinase deficiency (SMD; Niemann-Pick disease types A and B; NPA and NPB), in cases where sphingomyelinase activity was not determined with sphingomyelin as the natural enzymic substrate. Four of 24 SMD patients studied had falsely normal or enhanced activity, when a so-called artificial sphingomyelinase substrate, 2-N-(hexadecanoyl)-amino-4-nitrophenyl phosphorylcholine (HNP), was used, whereas SMD was clear with the sphingomyelin substrate. Those four patients had the Q292 K mutation of the acid sphingomyelinase gene (SMPD1) on at least one allele. Three of the four patients (no data available from one) experienced only late-infantile or juvenile, though distinct, neurological involvement, where learning disabilities, hypo- or areflexia or mild ataxia were initial signs. The laboratory pitfall with HNP substrate, which is used in many laboratories, raises the risk that some SMD patients are overlooked, and it prevents the consideration of a late-manifesting neurological course in some patients as well as the planning of enzyme substitution therapy in non-neurological SMD (NPB) patients. Since classical NPB is very rare, it is suggested that SMD patients with late- or mild-manifesting neurological symptoms should better be assigned to additional SMD subgroups than grouped with NPB.

Adolescent↗

Diagnosis of salivary gland tumors by fine-needle aspiration cytology: a review of clinical utility and pitfalls.

Fine-needle aspiration cytology has become a frequently used technique for the diagnosis of neoplasms of the head and neck. While the method has a high sensitivity and specificity for the diagnosis of salivary gland lesions, important pitfalls for the cytologic diagnosis of these lesions exist. This paper discusses the diagnostic pitfalls and investigates strategies for the evaluation of salivary gland masses.

Biopsy, Needle↗

Pre-operative diagnostic biopsy and surgery in paediatric liver tumours--the Amsterdam experience.

AIM: To report 24 years of pre-treatment biopsy and surgical experience in primary liver tumours in children. METHODS: Between 1979 and 2003, 53 children presented with a primary liver tumour of whom 48 who underwent surgical resection were evaluated (two died, two were unresectable, and one was transplanted). Biopsy data, per- and post-operative complications, mortality, and survival were retrospectively reviewed. RESULTS: Benign tumours were diagnosed in eight patients. Surgical resection for a malignant tumour was performed in 40 patients (26 hepatoblastomas (HB), eight hepatocellular carcinomas (HCC) (four had fibrolamellar HCC), three rhabdomyosarcomas (RMS), one neuroblastoma, one non-hodgkin lymphoma (NHL), and one teratoma). Primary resection was performed in one HB, and four HCCs. The cumulative survival without evidence of disease was 73% for HB (median 7 years) and 88% for HCC (median 3.5 years). CONCLUSION: The treatment results are comparable with those of larger international series except for HCC. The existing diagnostic pitfalls in differentiating between the various liver malignancies justify the use of a diagnostic biopsy.

Adolescent↗

Abdominal surgical emergencies in the elderly.

The evaluation of abdominal pain can be considerably more challenging in elderly patients. A higher likelihood of life-threatening pathology combined with a myriad of diagnostic pitfalls in this population mandate a more cautious approach with greater use of diagnostic resources and specialist consultation.

Abdominal Pain↗

Progressive bouts of acute abdomen: pet the peritoneum.

The recent discovery of the mutated gene responsible for Familial Mediterranean Fever (FMF) is supposed to facilitate its diagnosis which up till now is a clinical one because there are no specific laboratory tests. The sensitivity of genetic testing is limited because these tests search only for known mutations. In this case report we describe a patient with periodic abdominal pain in whom the diagnosis of FMF was wrongly discarded because of lack of a durable effect of colchicine and negative genetic testing. Diffuse peritoneal inflammation was nicely demonstrated by a FDG-PET (fluoro-deoxy-glucose positron-emission tomography) performed during a typical crisis. We discuss the possible diagnostic pitfalls and conclude that a crisis-PET might upgrade the level of diagnostic certainty in equivocal cases.

Abdomen, Acute↗