Discrepant Cases Research Articles

P17.01: Fetal gender: A case of discrepancy between amniocentesis and ultrasound examination

P17.01: Fetal gender: A case of discrepancy between amniocentesis and ultrasound examination

A Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene

Spinal muscular atrophy (SMA) is a common autosomal-recessive motor neuron disease caused by the homozygous loss of the SMN1 gene. A nearly identical gene, SMN2, has been shown to decrease the severity of SMA in a dose-dependent manner. However SMN2 is not the sole phenotypic modifier, because there are discrepant SMA cases in which the SMN2 copy number does not explain the clinical phenotype. This report describes three unrelated SMA patients who possessed SMN2 copy numbers that did not correlate with the observed mild clinical phenotypes. A single base substitution in SMN2, c.859G>C,, was identified in exon 7 in the patients' DNA. We now show that the change creates a new exonic splicing enhancer element and increases the amount of full-length transcripts, thus resulting in the less severe phenotypes. This demonstrates that the c.859G>C substitution is a positive modifier of the SMA phenotype and that not all SMN2 genes are equivalent. We have shown not only that the SMA phenotype is modified by the number of SMN2 genes but that SMN2 sequence variations can also affect the disease severity.

Re-analysis of epidemiologically linked tuberculosis cases not supported by IS6110-RFLP-based genotyping

Tuberculosis microepidemics are considered as such when a proven epidemiological link is identified between the cases. However, some studies have found microepidemics that were not supported by genotyping data. In a cross-sectional study, 44 linked pairs from 33 microepidemics identified during a 5-year period in Madrid, Spain were analysed to evaluate whether the epidemiological findings were consistent with the molecular analysis by IS6110-RFLP. Twelve pairs (27.3%) were not initially confirmed by molecular typing, and a refined re-analysis was performed to identify the reasons for the discrepancies. The possible causes were as follows: (i) laboratory errors or cross-contamination events, (ii) undetected clonally complex infections, and (iii) lack of refinement in the genotyping analysis that could be clarified by applying second-line fingerprinting tools. One discrepant pair was caused by laboratory error. No discrepant pairs were the result of incorrect assignment of genotypes due to clonally complex infections. The application of spoligotyping, MIRU-15 and RFLP enabled the establishment of matching shared genotypes in four linked pairs initially considered as discrepant; therefore, the percentage of discrepant pairs was reduced from 27.3% to 15.9% (7/44). However, in the remaining seven pairs, second-line fingerprinting identified differences with at least two of the three genotyping tools applied. This finding alerts us to the need to (i) refine as much as possible the molecular analysis to establish more accurate identification of truly discrepant cases, and (ii) broaden the search for epidemiological links to include non-conventional contexts outside the household or work/school settings.

18F-FDG-PET and Histopathology in131I-Lipiodol Treatment for Primary Liver Cancer

The diagnostic accuracy of 18F-FDG-PET (fluoro-2-deoxyglucose-positron emission tomography) remains questionable for primary hepatocellular carcinoma (HCC) but seems to be more promising for restaging and therapy control. Yet, there are no data on FDG-PET in 131I-lipiodol treatment for primary liver cancer. The aim of this study was to relate baseline FDG-PET findings to histologic data and to assess, for the first time, the role of repetitive FDG-PET imaging for follow-up of 131I-lipiodol treatment. Eighteen (18) patients (16 HCC, 2 cholangiocellular carcinoma; CCC) with 36 treatment courses (up to four per patient) had 35 PET exams, including 18 post-treatment follow-up scans in 10 patients (up to three per patient, one without baseline PET; n = 17). Histopathologic results were available in 15 patients. PET results were retrospectively related to histopathologic type, grading, presence of cirrhosis, and tumor size at baseline and compared with computed tomography (CT) during follow-up. Prior to 131I-lipiodol treatment, 8 patients were PET positive and 9 PET negative. Most of the large HCCs were PET positive and most small tumors PET negative (p < 0.05), despite an overlap below 11 cm. There was no identifiable correlation between PET results and degree of tumor differentiation. Overall, 9 of 10 patients with 17 of 18 follow-up scans showed concordant results with CT. The one discrepant case became PET negative after the first treatment course, despite CT-proven tumor growth (false negative). Patient management was not changed due to PET results. In conclusion, large HCCs were significantly more often PET positive, but there was no correlation with the degree of differentiation. Follow-up PET may be useful if the tumor is first demonstrated to be FDG positive.

A comparison of vital signs charted by nurses with automated acquired values using waveform quality indices

(1) To investigate if there exist any discrepancies between the values of vital signs charted by nurses and those recorded by bedside monitors for a group of patients admitted for neurocritical care. (2) To investigate possible interpretations of discrepancies by exploring information in the alarm messages and the raw waveform data from monitors. Each charted vital sign value was paired with a corresponding value from data collected by an archival program of bedside monitors such that the automatically archived data preceded the charted data and had minimal time lag to the charted value. Next, the absolute differences between the paired values were taken as the discrepancy between charted and automatically-collected data. Archived alarm messages were searched for technical alarms of sensor/lead failure types. Additionally, 7-min waveform data around the place of large discrepancy were analyzed using signal abnormality indices (SAI) for quantifying the quality of recorded signals. About 31,145 pairs of systolic blood pressure (BP-S) and 67,097 pairs of SpO(2) were investigated. Seven and a half percent of systolic blood pressure pairs had a discrepancy greater than 20 mmHg and less than one percent of the SpO2 pairs had a discrepancy greater than 10. We could not find any technical alarms from the monitors that could explain the large difference. However, SAI calculated for the waveforms associated with this group of cases was significantly larger than the SAI values calculated for the control waveform data of the same patients with small discrepancies. Charted vital signs reflect in large the raw data as reported by bedside monitors. Poor signal quality could partially explain the existence of cases of large discrepancies.

Comparison of the Hybrid Capture II Assay With the Human Papillomavirus DNA Chip Test for the Detection of High-Grade Cervical Lesions

Cervical intraepithelial neoplasia (CIN) 2 is used as the threshold for treatment decisions. This study was conducted to evaluate the clinical efficacy of the Hybrid Capture II assay (HC2) and the human papillomavirus (HPV) DNA chip test (HDC) for detecting HPV in high-grade cervical lesions CIN2 or greater, including adenocarcinoma (CIN2+). Seven hundred forty-one women with abnormal cervical cytology were evaluated with the HC2, the HDC, and histological assessment of the cervix. The overall agreement of the 2 HPV tests was 88.8% (kappa value, 0.61). Of 615 high-risk HPV-positive specimens by the HC2, 571 (92.8%) were HDC-positive. Both tests were performed similarly on CIN2+ samples; the sensitivities of the HC2 and HDC as predictors of CIN2+ were 93.4 and 92.6%, respectively. In 83 cases of discrepancies between the HC2 and HDC, genotyping of 39 HC2-negative/HDC-positive cases revealed 13 HPV-53, 8 HPV-58, 7 HPV-16, 6 HPV-18, 2 HPV-68, 1 HPV-31, 1 HPV-45, and 1 HPV-66. In 515 patients with CIN2+, HPV-16 (45.0%) was the most common type; the next most common types were HPV-58 (20.8%), HPV-18 (16.1%), HPV-31 (6.6%), and HPV-33 (6.6%). Human papillomavirus types 16, 58, and 18 were more likely associated with CIN2+ (P < 0.05). In conclusion, the HDC is a reliable diagnostic tool for the detection of CIN2+. In addition, the HDC provides useful information regarding viral genotypes.

Overnight Resident Interpretation of Torso CT at a Level 1 Trauma Center: An Analysis and Review of the Literature

At the authors' level 1 trauma center, postgraduate year 3 and 4 radiology residents interpret urgent overnight imaging studies, which are reviewed by attending radiologists the next morning. The goals of this study were to determine the discrepancy rate for torso computed tomography between resident radiologists' preliminary interpretations and attending radiologists' final interpretations and to identify adverse patient events secondary to the delayed diagnoses. All torso computed tomographic studies interpreted by weekday night residents (8 pm to 8 am) from January 1, 2005, to March 13, 2007, were evaluated retrospectively. Major discrepancies between the residents' interpretations and the attending radiologists' interpretations were compiled. Exams with major discrepancies were additionally reviewed by two radiology residents and an attending emergency radiologist. The medical records of patients with major discrepant findings were also reviewed to identify adverse events that occurred because of the delays in final interpretation. A total of 4768 chest, abdominal, and/or pelvic computed tomographic studies were interpreted during the study period. A total of 112 major discrepancies were collected. In 17 cases (15%), two additional radiology residents and an attending emergency radiologist agreed with the initial residents' interpretations, decreasing the major discrepancy rate to 95 of 4768 (2.0%), consistent with data from the literature (0.4%-10%). Management was changed in 16 patients (0.3%) because of the major discrepancies: 13 patients underwent additional investigations, and 3 patients were recalled to the emergency room. No mortality or morbidity was directly attributed to the delays in diagnosis. At the authors' institution, there was a 2.0% discrepancy rate between residents' preliminary interpretations and attending radiologists' final interpretations of overnight torso computed tomography, with a small rate of additional intervention as a result of the major discrepancies. No adverse patient effects were directly attributable to discrepant interpretations. In discrepant cases, there was a 15% disagreement rate (17 of 112) between attending radiologists, suggesting some degree of interreader variance in interpretation. In addition, this disagreement rate among attending radiologists may imply that these cases were complex. Because there is educational value in overnight call, independent radiology resident coverage should continue.

Prospective Universal Application of Mycobacterial Interspersed Repetitive-Unit-Variable-Number Tandem-Repeat Genotyping To CharacterizeMycobacterium tuberculosisIsolates for Fast Identification of Clustered and Orphan Cases

The use of molecular tools for genotyping Mycobacterium tuberculosis isolates in epidemiological surveys in order to identify clustered and orphan strains requires faster response times than those offered by the reference method, IS6110 restriction fragment length polymorphism (RFLP) genotyping. A method based on PCR, the mycobacterial interspersed repetitive-unit-variable-number tandem-repeat (MIRU-VNTR) genotyping technique, is an option for fast fingerprinting of M. tuberculosis, although precise evaluations of correlation between MIRU-VNTR and RFLP findings in population-based studies in different contexts are required before the methods are switched. In this study, we evaluated MIRU-VNTR genotyping (with a set of 15 loci [MIRU-15]) in parallel to RFLP genotyping in a 39-month universal population-based study in a challenging setting with a high proportion of immigrants. For 81.9% (281/343) of the M. tuberculosis isolates, both RFLP and MIRU-VNTR types were obtained. The percentages of clustered cases were 39.9% (112/281) and 43.1% (121/281) for RFLP and MIRU-15 analyses, and the numbers of clusters identified were 42 and 45, respectively. For 85.4% of the cases, the RFLP and MIRU-15 results were concordant, identifying the same cases as clustered and orphan (kappa, 0.7). However, for the remaining 14.6% of the cases, discrepancies were observed: 16 of the cases clustered by RFLP analysis were identified as orphan by MIRU-15 analysis, and 25 cases identified as orphan by RFLP analysis were clustered by MIRU-15 analysis. When discrepant cases showing subtle genotypic differences were tolerated, the discrepancies fell from 14.6% to 8.6%. Epidemiological links were found for 83.8% of the cases clustered by both RFLP and MIRU-15 analyses, whereas for the cases clustered by RFLP or MIRU-VNTR analysis alone, links were identified for only 30.8% or 38.9% of the cases, respectively. The latter group of cases mainly comprised isolates that could also have been clustered, if subtle genotypic differences had been tolerated. MIRU-15 genotyping seems to be a good alternative to RFLP genotyping for real-time interventional schemes. The correlation between MIRU-15 and IS6110 RFLP findings was reasonable, although some uncertainties as to the assignation of clusters by MIRU-15 analysis were identified.

Concordance between nucleic acid amplification technique and culture for the diagnosis of gonorrhoea

The objective of the study was to evaluate the concordance between nucleic acid amplification technique (NAAT) and culture for the diagnosis of Neisseria gonorrhoeae among attendees at a genitourinary medicine clinic in East London. All patients testing positive for N. gonorrhoeae on NAAT and/or culture between 1 April 2007 and 31 August 2008 at the Department of Sexual Health at Homerton University Hospital were included. Male patients had a first void urine sample for NAAT and urethral culture; female patients had a self-taken vulval swab or endocervical sample sent for NAAT and an endocervical culture sample. After interim analysis, discrepant results had both NAAT and culture repeated prior to treatment. Of 159 male patients with a positive NAAT, 22 (13%) had a negative culture. Among 135 female patients with a positive NAAT, 36 (27%) had a negative culture. Three men had a positive culture and negative NAAT. Nineteen of the discrepant samples were retested prior to treatment and 12 (63%) had spontaneously revered to negative. In conclusion, there was concordance in 84% of male and 67% of female samples. In two-thirds of the discrepant cases, the previously positive NAAT had become negative prior to treatment. This study highlights the importance of consideration of the clinical picture when assessing results.

Examination of concordance between maternal and youth reports in the diagnosis of pediatric bipolar disorder

While concordance between mother and child report continues to be the gold standard in the assessment of pediatric bipolar disorder, uncertainty develops when a mother's report is not endorsed by the youth. To this end we compared discordant (mother positive and youth negative) and concordant (mother and youth positive) cases. Subjects were 98 adolescents (12-19 years of age) derived from family studies of bipolar disorder in youth who had both self-reported and mother-reported assessments. Comparisons were made between discordant (n = 35) and concordant (n = 59) cases on a wide range of clinical correlates. Mothers in both groups reported similar rates of symptoms of mania and depression. Within the concordant group, mothers and youth reported similar rates of symptoms of mania. There were no differences between the concordant and discordant groups in onset, duration, or impairment of mania, rates of psychiatric hospitalization, cognitive variables, or rates of disorders in family members. The similarities between discordant and concordant reports in symptomatology of mania and depression, rates of comorbidities, treatment needs, and other clinical correlates suggest that a mother-based diagnosis of mania should not be discounted in discrepant cases in which the youth fails to endorse the diagnosis.

Femoral shaft fractures treated with stainless steel flexible nails in children aged between 5 and 12 years at the HUSVP: A two-year follow-up

The purpose of this study is to show our experience with stainless steel flexible nails in the treatment of femoral shaft fractures in children aged between 5 and 12 years and to observe if the type of material used for nails affects the results. A prospective, descriptive study of a series of cases was performed to evaluate patients treated at the Hospital Universitario San Vicente de Paúl (HUSVP) who had been followed up for at least 24 months. The study group was composed of 48 patients, with an average age of 8.6 years. According to the AO classification, the most common type of fracture was 32A3.2 (61%). The average follow-up period was 43 months. The alterations observed were six cases of clinical length discrepancy, two cases of overgrowing, four cases of shortening, and two malunions in valgus. These alterations had no repercussion in the children's function. The follow-up is the main strength of this study, as it demonstrated that, 2 years after surgery. The results with stainless steel nails are as good as those with titanium nails with a shorter follow-up as reported in the literature. Given the high costs of osteosynthesis material in our country, the results of this study provide a less expensive alternative. Level of evidence IV, case series.

Comparative evaluation of three commercial Toxoplasma-specific IgG antibody avidity tests and significance in different clinical settings

Determination of the avidity of specific IgG antibodies has become a generally accepted diagnostic aid for dating Toxoplasma infection. In this study, the Labsystems, VIDAS and EUROIMMUN Toxoplasma IgG avidity assays were compared on a series of 133 Toxoplasma IgG- and IgM-positive sera from symptomatic patients (n=28), from pregnant (n=43) and non-pregnant (n=26) women, and on 18 IgG-positive and IgM-negative sera from chronically infected patients. The results showed excellent concordance between the Labsystems and VIDAS tests in both the IgM-positive (r=0.82, kappa=0.771) and IgM-negative (kappa=0.609) sera, whilst the agreement of the EUROIMMUN assay with both the Labsystems and VIDAS tests in the IgM-positive sera was moderate (kappa=0.575 and kappa=0.525, respectively) and in the IgM-negative sera was poor (kappa=0.000). Analysis of the kinetics of the maturation of avidity in 13 patients in whom follow-up sera were available showed that, despite a general trend of maturation, in two patients the avidity did not become high during 6 and 11 months of follow-up. In view of the clinical setting, in the symptomatic patients, despite one case of complete discrepancy and five cases of partial discrepancy, the Labsystems and VIDAS tests were in almost perfect agreement (kappa=0.812), whilst the agreement in pregnant and non-pregnant women was substantial (kappa=0.754 and kappa=0.708, respectively). In conclusion, the Labsystems and VIDAS tests are equally reliable for the measurement of Toxoplasma IgG avidity; the choice of test should depend on the laboratory set-up. The EUROIMMUN test may be an acceptable alternative in resource-limited settings, but should be used prudently.

Assessing discrepant findings between QF‐PCR on uncultured prenatal samples and karyotyping on long‐term culture

To assess the prevalence of discrepant results found between quantitative fluorescent polymerase chain reaction (QF-PCR) analysis on uncultured prenatal samples and karyotyping on long-term culture. Results of QF-PCR from 1932 amniotic fluid (AF) and 1132 chorionic villus (CV) samples collected from September 1999 to February 2008 were analyzed. Nature of discrepancies was categorized for normal or abnormal results from uncultured and cultured samples. A total of nine (0.8%) discrepant cases were found in the CV and six (0.3%) in AF samples. Three abnormal results involving trisomy 18 or mosaic trisomy 13 showed normal karyotype with one representing complete discordance. There were three QF-PCR reports with initial mosaic trisomy 21 and five cases involving sex chromosome aneuploidy showing complete trisomy 21 and 45,X, respectively, after long-term culture. CV (0.8%) and AF (0.3%) samples showed discrepant results after culturing and 40% of discrepancy involved the sex chromosomes. QF-PCR on long-term culture was concordant with karyotyping results meaning that QF-PCR is technically sound. Discrepant PCR findings in uncultured prenatal samples likely arose from mosaicism or preferential cell culture. Limitations in abnormal QF-PCR results may be discussed with couples before further action.

Validation of breast cancer biomarkers between a field immunohistochemistry laboratory in Nigeria and its US-based counterpart.

Abstract Abstract #4039 Introduction: The importance of hormone receptor status in assigning treatment and the potential use of HER2 targeted therapy have made it imperative for laboratories to improve detection techniques. As inter-laboratory variability in immunohistochemical (IHC) tests may also affect epidemiologic studies of breast cancer subtypes in different countries, we conducted a validation study of breast cancer biomarkers between a well-established laboratory in the US and a field laboratory at the Institute for Medical Research and Training at the University College Hospital in Ibadan Nigeria.&amp;#x2028; Method: 232 breast tumor blocks were evaluated for ER, PR, and HER2 at both laboratories using tissue micro arrays (TMA) technique. Web-based conferences were held periodically to discuss IHC staining protocols, standardize scoring systems and to resolve discrepant cases. Pathologists used whole slide imaging for joint review and kappa statistic (κ) was used to indicate concordance between the two laboratories. Fluorescence in situ hybridization was carried out to confirm HER2 status in all cases.&amp;#x2028; Results: Initially, concordance analysis revealed an agreement of 91% (κ=0.52) for ER, 85% (κ=0.49) for PR, and 80% (κ=0.39) for HER2 between the two labs. Antigen retrieval techniques and scoring methods were identified as important reasons for discrepancy. After quality assurance and training, the agreement improved to 92% (κ=0.53) for ER, 88% (κ=0.64) for PR, and 94% (κ=0.75) for HER2. To date, florescence in situ hybridization (FISH) has been completed for 67 cases to confirm HER2 status, out of which 16 (24%) were shown to amplify the HER2 gene, 6 out of the 12 discordant HER2 results were resolved by FISH.&amp;#x2028; Conclusion: We found web-based conference with TMA and digital microscopy a useful and cost-effective tool for quality assurance of IHC, consultation and collaboration between distant laboratories. Quality improvement exercises in testing of tumor biomarkers will reduce misclassification in epidemiologic study of breast cancer subtypes and provide much needed capacity building in resource poor field sites.&amp;#x2028; Acknowledgement&amp;#x2028; This study was carried out with the support of Breast SPORE NCI P50 CA125183, Breast Cancer Research Foundation and the Lee Jeans Entertainment Industry Fund. Citation Information: Cancer Res 2009;69(2 Suppl):Abstract nr 4039.

An audit of cervicovaginal cytology in a teaching hospital: Are atypical glandular cells under-recognised on cytological screening?

Background:Cervical cytology screening for carcinoma of the cervix in India is mainly opportunistic in nature and is practiced mainly in urban centres. The effectiveness of cervical cytology screening depends on various factors. The quality of cervicovaginal cytology service is assessed by various quality indices and by cyto-histology correlation, which is the most important quality assurance measure.Aims:To describe the cervical cytology diagnoses, estimate the quality indices, and evaluate the discrepant cases on cytohistological correlation.Settings and Design:Retrospective observational study from a tertiary care centre in South India.Materials and Methods:Using a database search, all the cervicovaginal cytology reported during the period of 2002-2006 was retrieved and various diagnoses were described. The data was analysed to assess the quality indices. The cytohistologically discrepant cases were reviewed.Results:A total of 10,787 cases were retrieved, of which 98.14% were labeled negative and 1.36% were unsatisfactory for evaluation. A few (0.81%) of the cases were labeled as squamous intraepithelial lesions and 0.38% as atypical squamous cells. The ASCUS: SIL ratio was 0.5. Cytohistological correlation revealed a total of ten cases with significant discrepancy. The majority of these were carcinomas that were misdiagnosed as atypical glandular cells. These cytology smears and the subsequent biopsies were reviewed to elucidate the reasons for the discrepancies.Conclusions:The cervical cytology service at our centre is well within the accepted standards. An increased awareness of cytological features, especially of glandular lesions, a good clinician-laboratory communication and a regular cytohistological review would further improve the diagnostic standards.

Comparison of Silver-Enhanced in situ Hybridization and Fluorescence in situ Hybridization for HER2 Gene Status in Breast Carcinomas

specified elements to reduce assay variation such as specPurpose: Silver-enhanced in situ hybridization (SISH) is a newly developed method to evaluate HER2 gene amplification in invasive breast carcinomas. Most laboratories widely use fluorescence in situ hybridization (FISH) to evaluate the HER2 gene amplification status because FISH is a very sensitive and accurate technique. However, this technique is not the best because it requires specialized equipment and interpretation skills. We compared a new technique of SISH with FISH for assessing HER2 gene amplification in invasive breast carcinomas. Methods: HER2 gene amplification was assessed in 165 cases of invasive breast carcinoma by FISH and SISH with constructing a tissue microarray. The tumors were assessed by the guidelines of the American Society of Clinical Oncology/College of American Pathologists (ASCO/ CAP). Positivity was defined as a HER2/Chromosome 17 ratio greater than 2.2. Negativity was defined if the ratio was less than 1.8. The tumor was considered as equivocal for HER2 gene amplification if the ratio was between 1.8 and 2.2. The HER2 protein status was assessed. Immunostaining for HER2 protein was performed in a Benchmark automatic immunostaining device with using whole tissue sections. Results: There was agreement of the HER2 gene amplification status by SISH and FISH in 162 of 165 cases, which is a concordance rate of 98.2% (κ=0.94). There were three discrepant cases, with two of them being FISH positive and SISH negative (one case was IHC negative and one case was IHC positive) and one case was FISH negative and SISH equivocal. Conclusion: The 98.2% concordance between FISH and SISH meets the ASCO/CAP requirements for test validation of >95% concordance. These results indicate that SISH can be used as an alternative to FISH for assessing the HER2 gene amplification status in breast carcinomas.

Challenges in neurosurgical intraoperative consultation

Intraoperative consultation for neurosurgical specimens can be difficult at times, despite the use of both frozen section and squash preparation. Various factors influence the diagnostic accuracy of these procedures. This study was conducted to evaluate reasons for discordant case results in neurosurgical intraoperative consultations and make a comparative analysis of these two commonly used methods to identify the possible pitfalls, errors, and limitations. All the neurosurgical cases received in the Department of Pathology for intraoperative consultation over a period of 3 years were studied retrospectively. The slides of frozen sections and squash preparation were retrieved and the diagnosis was compared with the final diagnosis given on paraffin-embedded sections. A total of 6% of the cases were found to be discordant; these included angiomatous meningioma, Non-Hodgkins lymphoma, metastatic renal cell carcinoma, cerebellopontine angle fibrous meningioma, and craniopharyngioma. Highly vascular lesions, unavailability of squash preparation in a few cases and technical errors like thick smears, excessively crushed specimen, freezing, and cautery induced and crushing artifacts contributed to misdiagnosis. The discrepant cases need to be reviewed regularly by pathologists to familiarize themselves with the morphological changes and artifacts. The knowledge of possible errors could minimize misinterpretation and help in providing a more conclusive opinion to the operating surgeon.

Immunophenotyping of mature B-cell non Hodgkin lymphoma involving bone marrow and peripheral blood: critical analysis and insights gained at a tertiary care cancer hospital

We evaluated the diagnostic utility of flow cytometry immunophenotyping in bone marrow aspirates and peripheral blood, in the assessment of mature B-cell non-Hodgkin lymphoma (MBNHL). We analyzed 356 cases of MBNHL received for immunophenotyping over a 4 year period. All cases were reviewed, correlated with biopsy specimen (lymph node and splenectomy). Discrepant cases were re-evaluated. Common subtypes included chronic lymphocytic leukemia (CLL) (243 cases, 68.5%), follicular lymphoma (30 cases, 8.5%), mantle cell lymphoma (20 cases, 5.5%), splenic marginal zone lymphoma (18 cases, 5%), hairy cell leukemia (18 cases, 5%). CD5+/CD23+ had a high positive predictive value (PPV) for diagnosing CLL whereas CD5+/CD23− had a high negative predictive value (NPV) for diagnosing mantle-cell lymphoma (MCL). Limited panel of 9 antibodies mainly CD19, CD5, CD23, CD10, FMC7, kappa, lambda, CD3 and CD20 help diagnose more than 92% of cases of MBNHL. Minimal diagnostic panels become important in countries with limited resources.

Accuracy of frozen section diagnosis in ovarian masses: experience at a tertiary oncology center

Accurate frozen section diagnosis is necessary for appropriate surgical management. In this study, we planned to determine the accuracy of frozen section diagnosis in our center and to study the factors which may influence the accuracy of frozen section diagnosis of ovarian tumors. In the present study, frozen section diagnosis of adnexal masses in 282 patients was compared with permanent section diagnosis as the gold standard. The overall accuracy of frozen section diagnosis was 95.7%. The sensitivity of frozen section diagnosis for benign, borderline and malignant lesions was 99, 60, and 92%, respectively. The tumor size in discrepant cases was larger than the concordant cases, however no association between mucinous histology and inaccurate diagnosis was found. The sensitivities of gross examination and clinical data in distinguishing benign from non-benign lesions were 93 and 70%, respectively. Frozen section is a reliable method for surgical management of patients with adnexal masses. Gross examination and clinical data are two valuable parts of intraoperative consultation.

Papilomatose laringotraqueobrônquica: aspectos em tomografia computadorizada de tórax

To present the findings of computed tomography (CT) scans of the chest in patients with laryngotracheobronchial papillomatosis. We retrospectively analyzed CT scans of eight patients, five males and three females, ranging from 5 to 18 years of age with a mean age of 10.5 years. Images were independently reviewed by two radiologists. In discrepant cases, a consensus was reached. The most common CT findings were intratracheal polypoid lesions and pulmonary nodules, many of which were cavitated. In patients with laryngotracheobronchial papillomatosis, the most common tomographic finding was the combination of intratracheal polypoid lesions and multiple pulmonary nodules, many of which were cavitated.