Requisition Forms Research Articles

35334 Clinical usage data demonstrates appropriate use of the prognostic 40-gene expression profile (40-GEP) test for cutaneous squamous cell carcinoma with one or more risk factors

Although the overall metastatic rate for cutaneous squamous cell carcinoma (cSCC) is low, because the incidence exceeds a million cases per year, deaths from this disease are estimated to surpass those from melanoma. The risk of poor outcomes guides patient management decisions, therefore accurate risk assessment is critical. Risk assessment occurs through weighting of clinicopathologic risk factors by physician judgement and/or through staging systems (e.g. AJCC staging). The 40-gene expression profile (40-GEP) test was developed and validated to accurately classify risk for regional/distant metastasis as low (Class1), moderate (Class2A), or high (Class2B) in patients with primary cSCC with one or more risk factors. The objective of this study was to report on clinicopathologic conditions leading to clinical usage of the 40-GEP. Summary metrics on the first 2000 clinical cases received that met testing criteria were generated by a review of the clinical requisition form. Risk factors included location on the H or M area, ≥2cm diameter, poorly defined borders, patient immunosuppression, rapidly growing tumor, site of prior radiation or chronic inflammation, high-risk subtype, invasion beyond the subcutaneous fat, poor differentiation, lymphovascular invasion, and perineural invasion. In this clinically tested cohort, the technical reliability of the test was 96.8%. Lesions submitted for testing had 1-2 (50.3%), 3-6 (47.3%), or 7+ (2.4%) risk factors (average of 2.8). The intended use population aligns with cases submitted for clinical testing suggesting that physicians understand appropriate use of molecular prognostic testing. Incorporating 40-GEP test results may support risk-appropriate surveillance and treatment decisions.

Characteristics of polymerase chain reaction-positive syphilis cases in Manitoba, Canada, 2017 to 2020: Demographic analysis, specimen types, and Treponema pallidum gene targets.

A resurgence of syphilis infections has been described in a number of countries including Canada in the last decade. This study identified polymerase chain reaction (PCR) positive syphilis cases based on detection of Treponema pallidum genes (polA, tpp47, and bmp) in 3,350 clinical specimens obtained from patients in the province of Manitoba, Canada between 2017 and 2020. Patient demographics were obtained from specimen requisition forms. PCR identified 740 syphilis cases: 718 were adolescents and adults, while 22 were congenital syphilis cases. For non-congenital syphilis investigation, the clinical specimens with the highest yield of positive PCR results were genital (632), oral (73), and anal (55), while for congenital syphilis, they were nasal or nasopharyngeal secretions (20), followed by blood (5) and umbilical cord (4). Female syphilis cases appeared younger (61.7% between 14 and 29 years), while male syphilis cases appeared older (58.4% between 30 and 65 years). Although, overall more syphilis cases (62.7%) occurred in the urban cities; the proportion of urban cases showed a significant decline from 87.0% in 2017 to 55.6% in 2020, while in rural regions it increased from 13.0% in 2017 to 44.4% in 2020. Most (98.8%) PCR- positive specimens were found to contain all three T. pallidum genes and 99.8% also displayed the macrolide resistance genotype. This study identified the clinical specimen types and T. pallidum genes most suitable for PCR diagnosis of syphilis. Changing demographics of cases were noted over time.

Children with lysinuric protein intolerance: Experience from a lower middle income country.

BACKGROUNDLysinuric protein intolerance (LPI) is an inborn error of metabolism consequential to recessive mutations in the SLC7A7 gene. The metabolic imbalance in absorption and excretion of dibasic amino acids is considered the basis of LPI. The disease results from protein intolerance with signs and symptoms oscillating from cerebral impairment, respiratory involvement, renal failure and autoimmune complications.AIMTo determine biochemical and clinical presentation of cases with biochemical picture suggestive of LPI in Pakistani children.METHODSThe study was conducted at the Biochemical Genetic Lab, Department of Pathology and Laboratory Medicine, AKU Plasma, and urine amino acid quantification data from January 2013 to October 2018 was included in this study. The amino acids were analyzed by high performance liquid chromatography. Prestructured requisition forms were used to obtain the clinicopathological data. Statistical analysis was done by Microsoft Excel 2017.RESULTSA total of 6 patients were recognized. All the patients were male (100%). The mean age was 24 mo ± 10 d. All the patients had low plasma concentration of lysine, ornithine and arginine, whereas increased levels of lysine, ornithine and arginine in urine were observed in 2 patients. History of consanguineous marriage was present in all patients (100%). The most observed clinical symptom was feeding difficulty followed by failure to thrive (83.3%) and developmental delay (66.6%). Hepatomegaly was present in all patients (100%). No mutation analysis was done.CONCLUSIONThis study portrays the biochemical and clinical spectrum of LPI in Pakistan. Although clinical manifestations appeared in the first 2 years of life, most of them suffered a delay in undergoing diagnostic workup.

Analysis of Postmortem Examination in Exhumed Cases Done in and Around Bangalore, India for 10 Years: A Retrospective Study

Background: Exhumation is the process of removing the dead body from the grave. The reasons and time limit for exhumation may vary from country to country. After receiving a request from the Magistrate, exhumation followed by postmortem is done to gain essential evidence. To comprehensively analyze the exhumation cases done in Victoria Hospital, Bangalore, and how exhumation followed by postmortem examination aids in finding the cause of death. Methods: All cases of exhumations performed for 10 years (from January 1, 2012, to December 31, 2021) in the Department of Forensic Medicine and Toxicology, Victoria Hospital, Bangalore, were studied retrospectively. The essential data were collected from requisition forms, exhumation, and postmortem reports. The results were obtained after tabulating, and data were analyzed with an observational method. Results: A total of 37 exhumation cases were done during the study period. Young males in the age group of 21 to 30 years were the major population. Out of 37 cases, the cause of death was established in 25 cases (68%). Conclusion: Analysis of postmortem examination in exhumed cases gives much information from a medicolegal point of view to determine the cause and reveal the mysteries behind the manner of death. Hence it is not a vain procedure.

A Retrospective Audit of Red Cell Serology Requisition Forms Received at a Reference Testing Center for Work-Up

Background and Objectives: Audits identify areas of problems in immunohematology workup and transfusion practice which can be corrected by the education of medical staff, formulation of guidelines, and algorithms. An audit is a series of simple, direct questions, which when answered and reviewed, tell us whether the laboratory is performing its procedures, activities, and policies correctly. The aim of this study was to analyze immunohematology request forms sent from red cell serology laboratories to our reference testing center (RTC) to ascertain their completeness. Materials and Methods: This was a retrospective, observational study conducted in the department of transfusion medicine at a tertiary-level health-care center from November 2019 to June 2021. We ascertained whether the immunohematology workup forms details were complete, absent, or incomplete. Results: The study was conducted over a period of 20 months, with 264 forms being audited. In this overall total number, almost one-third of 1894 (34.16%) of the immunohematology workup requisition form details were complete and 716 (12.91%) of these entries were incomplete. However, almost half of the overall number of 2934 (52.92%) of the requisitions were absent. Conclusion: From our study, we concluded that an audit of all the RTC requisitions at the point of receiving can be an important tool to detect requisition errors and results of RTC workup. We received a sample for RTC advanced immunohematological testing from all over India. There is a need for the organization of CME and training of staff to increase compliance regarding sending appropriate RTC advanced immunohematological requisitions and samples.

A Retroprospective Clinicopathological Study of Prostatic Lesions in Surgical Specimens

Abstract Background Prostatic diseases such as inflammation, benign prostatic hyperplasia, and tumors are prime causes of mortality and morbidity in males. The prevalence of these lesions increases with advancing age. The second most common cancer among males is prostate cancer, next to lung cancer worldwide. Aim The present study was undertaken with the aim of studying the clinicopathological characteristics of prostate lesions in surgical specimens Methods The present study was a retroprospective study. A total of 212 prostate surgical specimens were included. Information provided in the requisition form regarding age, type of prostatic biopsy and clinical presentation, and histopathological diagnosis was taken into consideration and recorded. All specimens were fixed in 10% neutral buffered formalin and 5μ sections were stained with hematoxylin and eosin stain (H&E stain). Relevant clinical data including age, the presenting complaints, and S.PSA values were recorded. Data were collected and analyzed using simple statistical methods with Microsoft Excel 2016. Results Out of 212 cases analyzed, 161 (76%) were transurethral resection of prostate (TURP) TUPR specimens, 38 (18%) were trucut needle biopsies, and 13 (6%) were open prostatectomy specimens. The youngest patient was 48 years old while the oldest patient was 90 years old with a mean of 71.7 ± 8.2 years. Of the total 212 surgical specimens, 174 (82%) cases were of benign prostatic hyperplasia (BHP), and 38 (18%) were prostatic adenocarcinoma (PAC). Also, 94 (44.3%) of BPH and carcinoma of the prostate cases were most common in the seventh decade of life (61-70 years). Difficulty in micturition was the most common presentation 82 (39%). A maximum number of the BPH cases 81 (46.5%) had the prostate-specific antigen range of 0 to 4 ng/mL. The highest value of serum PSA was noted among the PAC patients in the range of > 80 ng/mL. Out of 38 cases of prostatic adenocarcinoma, moderately differentiated (Gleason scores 7) was the most common core and was seen in 42.1% of the PAC cases. Conclusion The present study showed that the most frequently encountered prostatic lesion was BHP, commonly seen in the age group of 61 to 70 years. The PAC was common among males of more than 60 years. Histopathological examination is the best diagnostic tool for PAC

Are Clinicians Communicating Adequately with Radiologists through Radiological Requisition? A Clinical Audit Assessing Current Local Practice

Introduction: A radiological request form is the only communication tool between the treating physician and the radiologist. This study was conducted to assess the adequacy of filled radiological request forms in a tertiary health institute. Methods: Three hundred radiological requisition forms which were filled by doctors at the tertiary hospital were selected randomly and analyzed. The forms were evaluated for completeness of the information entered by the physician. The request forms were selected by convenience sampling method to avoid bias and included forms from multiple departments both inpatient and outpatient. Results: Our audit data revealed that out of the total 250 request forms that were analyzed only the names of the patients and the part to be examined was filled. The age and gender of the patients were filled in 99.2% and 99.6% forms respectively. A total of 59.6% of forms had provisional clinical diagnosis, name and department of the physician requesting the investigation were present in 75.6% and 66% of forms respectively. None of the forms contained the contact number of the requesting physician with 8% forms without the name of the physician and department who had filled the request form. Conclusion: At the end of our audit, we concluded that radiological request forms are rarely filled properly which results in inadequate transmission of clinical information.

Histopathological Study of Lesions of Nasal Cavity and Paranasal Sinuses

Context: The lesions of nasal cavity and paranasal sinuses provides problem in their diagnosis, prognosis and management because of limited anatomical space and certain unusual clinicopathological features. Aims: The present study was undertaken to study the incidence & frequency of various non-neoplastic and neoplastic lesions. It also aimed to describe the histomorphologic features of lesions of nasal cavity and paranasal sinuses. Settings and Design: This is a simple retrospective observational study. Methods and Materials: The material for present study was obtained as excisional biopsy of the lesions. The specimens were received in 10% formalin along with requisition form which also included the clinical data. The material was processed as routine histopathological examination. Special stains were done wherever required. Results: Total 62 cases were analyzed. The lesions were classified as non-neoplastic and neoplastic. The non-neoplastic lesions were classified according to classification given by Friedman and Osborn. Tumors of nasal cavity and paranasal sinus were classified according to WHO classification and observations compared with other studies. Conclusions: Non-neoplastic lesions were more common than neoplastic lesions. Sinonasal polyps were the most common lesions in the present study (50%). The age incidence ranges from 1st decade to 7th decade. There was slight female preponderance. The incidence of malignant tumours was slightly more than the benign tumours. Thus categorizing the sinonasal lesions according to histopathological features into various types helps clinicians to know the clinical presentation, the best management, clinical outcome and prognosis of the disease. Keywords: Histopathology, Nasal, paranasal, Sinonasal, Polyp, WHO

#14 Rapid, Non-Invasive Detection of Non-H. pylori Helicobacter Infections in Immunocompromised Children Using Microbial Cell-Free DNA Next Generation Sequencing in Plasma

Abstract Background Non-H. pylori Helicobacter (NHPH) infections are more common in immunocompromised hosts and are associated with chronic infection in patients with X-linked agammaglobulinemia. Enterohepatic Helicobacter spp. cause systemic disease including cellulitis, bacteremia, endocarditis, meningitis, arthritis, hepatobiliary disease, and enteritis. NHPH are fastidious gram-negative organisms and are rarely detected by culture or nucleic acid amplification tests in clinical laboratories, resulting in potentially poor clinical detection and treatment. We present data demonstrating the diagnostic advantage of using plasma microbial cell-free DNA Sequencing to rapidly identify NHPH to the species level. Method The Karius TestTM (KT) was developed and validated in Karius’s CLIA certified/CAP accredited lab (Redwood City, CA) and detects mcfDNA in plasma. Following DNA extraction, next-generation sequencing (NGS) is performed, and sequences are aligned to a curated database of > 1000 organisms. Microorganisms observed above background at statistically significant levels are reported and quantified in molecules per microliter (MPM). We conducted a retrospective review of KT detections of NHPH from December 2016-November 2021. A subset of pediatric patients (age <=21 years) was identified from this cohort. Available clinical information was extracted from the test requisition form. Results KT detected NHPH in 23 patients among 11 unique institutions in the span of 5 years, including 10 (43%) pediatric patients (Table 1). Nine of ten detections were quantified (Median 110 MPM; range 48-20932, MPM). The reference interval of mcfDNA abundance for all NHPH species (defined by the 97.5th %ile) in a cohort of 684 healthy subjects is 0 MPM (for comparison the reference interval for H. pylori is 42.2 MPM). The highest detection was H. magdeburgensis 20,932 MPM. Of the 10 patients, 8 were male and 2 were female and the mean age was 10.5 years (range 3-17). Nine of 10 patients had information regarding underlying diagnosis. There were 6 patients with primary immunodeficiency including 5 with X-linked agammaglobulinemia with a diverse manifestation of infections. Two patients had serial testing during the intercurrent infectious episode to monitor the response to treatment. Serial testing in one patient showed a dramatic decrease of NHPH mcfDNA from 27,907 MPM to 1,079 MPM over a 6-day span. Serial testing in a second patient showed a decrease of the NHPH mcfDNA from 124 MPM to an undetectable range 14 days later. Conclusion These cases highlight the potential use of rapid, non-invasive, plasma mcfDNA to diagnose and potentially monitor the response to treatment of infections caused by NHPH, especially in patients with primary immunodeficiency. NHPH are difficult to detect and identify using conventional microbiological methods and plasma mcfDNA NGS may play an important role in detecting these fastidious microorganisms and serial testing.

Implementation of universal, pan-cancer germline genetic testing in patients with cancer in Jordan.

10580 Background: Detection of pathogenic germline variants (PGVs) has a significant and growing impact on the management of patients with many types of cancer. Most research to date evaluated individuals of European background, which can result in skewed genetic testing criteria and variant interpretation. Additional data are needed from diverse populations. This study aimed to investigate a universal germline testing strategy and the pattern and frequency of PGVs among all newly diagnosed cancer patients at a single center in Jordan. Methods: In this prospective, observational study, consecutive patients newly diagnosed with cancer were classified as meeting or not meeting National Comprehensive Cancer Network (NCCN) germline genetic testing criteria. All patients underwent an 84-gene panel test, independent of age, stage or family history. Demographics and clinical history were collected and analyzed from information provided by the clinicians on the test requisition form. Descriptive statistics were employed, and statistical significance was determined by two-tailed Fisher’s exact test and unpaired t test. Results: In total, 1377 cancer patients of Arabic background were enrolled, of which 831 (60.3%) met NCCN criteria (Table). PGVs were identified in 210 (15.3%). Excluding the 29 patients who were carriers for autosomal recessive conditions, 192 PGVs were identified in 181 (13.1%) patients. PGVs were most commonly identified in APC (p.I1307K variant, 55, 28.6%), BRCA2 (35, 18.2%), BRCA1 (21, 10.9%), and TP53 (12, 6.3%). While patients who met NCCN testing criteria were more likely to have a PGV (p<0.0001), 44 (24.30%) patients with PGVs did not meet criteria. Among those with PGVs, 177 (97.8%) were potentially eligible for increased screening per NCCN/expert opinion guidelines, 69 (38.1%) targeted therapies, and 89 (49.2%) clinical trials; this included 41 (22.7%), 6 (3.3%), and 14 (7.7%) patients, respectively, that did not meet NCCN testing criteria. 1445 variants of uncertain significance (VUS) were identified in 833 (57.7%) patients, but no difference in VUS rate was observed between those meeting and not meeting criteria (p=0.7354). Conclusions: Overall PGV rate among cancer patients from one center in Jordan was similar to that reported in the literature. While the VUS rate was high, similar rates were observed in those meeting and not meeting criteria. Testing restricted to guidelines could have missed approximately a quarter of patients with PGVs, >95% of whom might qualify for increased screening, targeted therapies, and/or clinical trials. [Table: see text]

Clinician utilization of a plasma-only, multiomic minimal residual disease (MRD) assay in 2,000 consecutive patients with colorectal cancer (CRC).

e15586 Background: Circulating tumor DNA (ctDNA) for detection of MRD in resected CRC is a prognostic factor for recurrence. However, current utilization of available commercial tests has not been investigated. We report real world clinician use of a validated, plasma-only, multiomic MRD assay (Guardant Reveal) in a large unselected CRC cohort. Methods: Results from Guardant Reveal MRD testing ordered for clinical care in the US were retrospectively queried for the first 2,000 consecutive CRC cases. Pts could be enrolled in a post-operative program to inform adjuvant treatment (PostOP, up to 3 tests within 3-16 weeks post-resection) or a surveillance program (SP) for recurrent tests post-treatment. Pts could have tests across both programs and/or one-time tests. All subsequent tests for the first 2,000 patients were included for analysis (data cut-off: 1/15/2022). Recurrent programs were analyzed for stage (stg) II/III only. Clinical factors were derived from test requisition forms. Results: 2681 tests from 1993 pts were analyzed; 7 pts were excluded due to missing cancer stage. Median age was 64 years (range: 21-65), 55% were male, most (94%) had stg II/III disease (Table). ctDNA was detected in 25% of all pts; detection increased with stage (Table) as expected. Among stg II/III pts, 330 (21%) had only PostOP test/s, 950 (51%) SP only, 54 (3%) had both PostOP and SP; the remainder had one-time test/s outside defined programs. In Stg II/III pts with >1 PostOP test (26%/17% respectively), ctDNA was detected in 102/384 (27%), of whom 72% had it detected on the first test. The median time from surgery to first result was 5 weeks (10 weeks for a second result). 95% of all stg II/III pts had results from PostOP testing before week 12 post-resection. In Stg II/III pts with >1 SP test (47%/54% respectively), ctDNA was detected in 244/1024 (24%), of whom 87% had it detected on a first test. The average time from date of surgery to first surveillance test was 305 days (median: 489, range:51-4618). Conclusions: ctDNA detection rates by a plasma-only multiomic MRD assay in this large CRC clinical cohort are similar to published rates. ctDNA orders by clinicians were most frequent in Stg II/III surveillance settings followed by PostOp, consistent with the population size of eligible patients for PostOp vs. Surveillance use-case. Importantly, nearly all pts tested PostOP had results prior to 12 weeks post-resection, which may inform adjuvant therapy decisions. These findings should be correlated with clinical outcomes to improve the utilization and utility of MRD testing in adjuvant management of CRC. [Table: see text]

Prevalence of incidental pathogenic germline variants detected in cfDNA in patients with oncogene-driven non-small cell lung cancer.

10569 Background: Preliminary data has highlighted inherited predisposition to lung cancer (LC) related to certain pathogenic germline variant (PGV) in cancer predisposing genes, including patients (pts) with tumors harboring somatic driver oncogene alterations (alt); however, the frequency of PGV in LC is unknown. Liquid biopsy assays may be able to identify incidental PGV (iPGV) in pts with solid tumors at scale. Here, we report the prevalence of iPGV in genes predisposing to cancer in pts with advanced non-small cell LC (aNSCLC) relative to driver alt status. Methods: Genomic results were retrospectively queried from 31126 pts with aNSCLC who had Guardant360 testing as part of routine clinical care from 10/2020-12/2021. iPGVs were defined as being non-synonymous, non-VUS alt in selected genes known to increase lifetime cancer risk (Table) with variant allele frequency (VAF) >30% and pathogenicity defined by a proprietary bioinformatics pipeline. Clinical factors such as age, gender, histology, and diagnosis status (new/progressing) were extracted from test requisition forms. The driver group included guideline-recommended and emerging somatic mutations (m) in EGFR/KRAS/BRAF/MET/HER2, fusions (f) in ALK/ROS1/RET/NTRK1-3 and amplifications (a) in HER2/MET. Results: Out of 31126, 720 (2.3%) of pts had predicted iPGV, of whom 54% were female, with a median age of 64 (22-100); most pts were newly diagnosed (66%). Among them, 92% of pts had iPGVs identified in the homologous recombination and repair (HRR) pathway, 3% in mismatch repair (MMR) pathway and 5% EGFR iPGVs. A total of 335 (47%) pts with iPGVs had somatic driver alt (Table): 20% of pts with iPGV had KRASm (n=144/720; 67 G12C), 12% EGFRm (n=87; 28 ex19del, 35 ex21(L858R)), 2.5% BRAFm (n=18), 2.5% METm ex14 skip (n=18), 0.1% HER2m (n=1), 0.8% ALKf (n=6), 0.1% ROS1f (n=1), 0.1% RETf (n=1), 0.1% HER2a (n=1), and 0.4% METa (n=3). ATM iPGVs were enriched in pts with driver alt. (45% driver vs 27% non-driver, p<0.0001) while BRCA1 iPGVs were more frequently observed in pts without driver alt. (17% vs 8%, p<0.0001). Distribution of other iPGVs was similar across driver/non-driver groups. Conclusions: In this large cohort, 2.3% of pts with aNSCLC were iPGV-carriers; 47% of pts had oncogene-driven tumors, particularly with KRAS, EGFR, BRAF and MET alt. iPGV and lung carcinogenesis need further evaluation to define the role of genetic predisposition in LC risk and to determine the highest risk individuals to explore screening and therapeutic strategies, such as in pts with other solid tumors. [Table: see text]

Clinical implications of germline genetic testing stratified by ethnicity in a large colorectal cancer cohort.

10504 Background: Germline genetic testing for patients (pts) with colorectal cancer (CRC) is currently recommended for those diagnosed prior to age 50, as well as other select cases based on personal and/or family history criteria. Whether universal germline multi-gene panel testing (MGPT) should be performed in all pts with CRC remains uncertain given the lack of large-scale studies examining MGPT in CRC across a diverse population. The present study aims to determine the yield, and potential clinical impact, of MGPT across a large CRC cohort. Methods: We conducted a de-identified retrospective cohort study of all pts with CRC who underwent MGPT (excluding patients who underwent testing limited to ≤10 genes) at a commercial laboratory between 03/2015-05/2021. We collected pts demographics from test requisition forms and results of germline MGPT. Clinically actionable PGVs were defined as variants in genes with reported CRC or polyposis risk, as well as other actionable genes associated with clinical management and/or therapeutic implications. Results: A total of 34,210 pts with a history of CRC underwent germline MGPT. These pts were primarily female (60.7%), White (70.6%), and 50 or older (68.8%), with 35.5% reporting an extra-colonic malignancy. Of this cohort, 4,577 (13.4%) were found to carry at least one PGV, with 2,925 (8.6%) having a PGV associated with increased risk of CRC or polyposis. Of all positive pts, 3,038 (66%) had PGVs with precision therapy or clinical trial implications while another 33% had PGVs with published management implications. Among pts under the age of 30 when tested, 23.3% had a clinically actionable PGV compared to 14.7% at age 30-39, 11.7% at 40-49, 12.9% at 50-59, 11.6% at 60-69, 8.9% 70-79, and 7.8% over the age of 80. When compared to pts identified as White, PGVs were more frequently identified in pts of Ashkenazi Jewish descent (p < 0.001) and less frequently identified in those who identified as Hispanic (p < 0.001). VUS was more frequently identified in pts identified as Black, Asian, or Hispanic (p < 0.001). Conclusions: This is the largest study to date examining MGPT in CRC, where we demonstrate high rates of clinically actionable variants across all age groups, self-reported racial/ethnic groups, and panel sizes, with 13% of all CRC pts having a PGV with precision therapy, clinical trial and/or published management implications.This is likely an underestimate as patients with strong clinical suspicion of hereditary CRC (Lynch, FAP) often receive a targeted panel of <10 genes and were excluded. The lower rate of PGVs in Hispanic pts and higher rate of VUS in Black, Asian and Hispanic pts underscores the historical underrepresentation of these pts and ongoing need to mitigate the associated healthcare disparities. Overall, this work supports consideration of broadening germline genetic testing criteria for patients with CRC.

Histopathological patterns of childhood malignancies seen at Federal Teaching Hospital Abakaliki, Ebonyi State, Nigeria: A 10 year retrospective study

Introduction: Childhood malignancies (CM) have been one of the major causes of death in the world. It appears to be increasing in significance due to the ongoing reduction in both infectious and nutritional diseases.Aims: The study was conducted to document the histopathological pattern, age and sex distribution of childhood malignancies in a University Teaching Hospital in Southeast Nigeria.Method: The materials consisted of histology slides, formalin-fixed paraffin-embedded tissue blocks (FPTB), and requisition forms of all cases diagnosed with CM at a University Teaching Hospital between the periods January 2005 and December 2015Results: A total of 2,528 surgical biopsies were received at the Department. Only 60 (2.4%) specimens represented childhood malignancies. Thirty-one cases (51.7%) of the entire CM were lymphomas; 12 (20.0%) were non-Hodgkin lymphoma, 17 (28.3%) others were Burkitt’s type whereas 2(3.3%) were Hodgkin lymphoma. Childhood malignancies were more in males 36 (60.0 %) than females 24 (40.0%), giving a male to female ratio of 3:2. However, Burkitt’s lymphoma was higher in females 12 (70.6%) than males 5 (29.4%) with a male to female ratio of 1.2:3. Twenty-six (43.3%) cases of the CM occurred in children aged 0-5 years but 20 (36.7%) presented in children aged 11 to 15 years. Twelve (20.0%) cases were seen in children 6 to 10 years. Six (23.1%) of the children had Burkitt's lymphoma all of whom were under 5 years.Conclusion: Lymphomas were the commonest CM, Burkitt’s lymphoma being the dominant subtype in this study. There was a female preponderance of Burkitt’s lymphoma.

MONITORING QUALITY INDICATORS IN A MEDIUM-SIZED LABORATORY OF SOUTH BENGAL: MOVING TOWARDS ACCREDITATION

Introduction: Documenting and monitoring quality indicators are important to improve the quality of a laboratory. The objective of this study was to record the quality indicators of a clinical laboratory and prepare it for accreditation by National Accreditation Board of Laboratories (NABL) as per ISO 15189. Materials And Methods: A total of 9 quality indicators in different phases of sample analyses viz. pre-analytical, analytical and post-analytical were monitored for 21459 samples over a period of one year. Results: Incomplete requisition forms were the most common outlier (2.5%) in the pre-analytical phase followed by samples not maintaining cold chain during transport (2.1%). Internal non-conformance with quality control was seen in 0.6% of samples in analytical phase. In post analytical phase, turnaround time (TAT) could not be maintained for 8% of the samples. Conclusion: Monitoring and recording quality indicators give us an idea about the performance of a medical laboratory. Therefore, working with a goal to reduce quality indicator outliers will improve the quality of a laboratory and ultimately enhance patient care. Moreover, it can help comparing different laboratories in a particular area based on performance.

Appropriate use of plasma glucose tests for diagnosis of diabetes mellitus in Ibadan, Nigeria.

BackgroundDiabetes mellitus is a growing epidemic in Africa. Its diagnosis relies exclusively on laboratory evidence, which differs based on clinical circumstances.ObjectiveThe study described the appropriateness of plasma glucose test requests per the American Diabetes Association criteria.MethodsWe reviewed the plasma glucose test requests received by the chemical pathology laboratory of the University College Hospital, Ibadan, Nigeria between June 2018 and November 2018. The American Diabetes Association diabetes diagnostic criteria were used to define the appropriateness of test requests and determine the potential for ill-informed clinical decisions.ResultsFour hundred and twenty-three requisition forms were included, with the majority from the medical wards/clinics (72.3%); the most frequent reason for a plasma glucose test was systemic hypertension (28.6%). Fasting plasma glucose was most requested (254; 60.0%). One hundred and sixteen (27.4%) requests were potentially inappropriate, with the 2-h postprandial plasma glucose (2hPPG) test requests (83; 71.6%) being the most inappropriate. The difference in the proportion of inappropriate requests was not statistically significantly between medical or surgical wards/clinics (Odds ratio 1.131, 95% confidence interval 0.709–1.803, p = 0.605). Inappropriate requests in six cases may have triggered inappropriate action.ConclusionA third of the glucose tests requested for querying diabetes mellitus may have been inappropriate. Results of such testing may trigger inappropriate clinical action. To improve the quality of care and for economic reasons, laboratories should have programmes to improve the appropriate use of their services.

Are Clinicians Communicating adequately with Radiologists through Radiological requisition? A Clinical Audit assessing Current local practice

Introduction: A radiological request form is the only communicating tool between the treating physician and the radiologist. An incompletely filled form may fail to provide the correct diagnosis through imaging. This study was conducted to assess the adequacy of filled radiological request forms in a tertiary health institute. Methods: Three hundred radiological requisition forms which were filled by doctors at tertiary hospital were selected randomly and analyzed. The forms were evaluated for completeness of the information entered by the physician. The request forms were selected by convenience sampling method to avoid the bias and included forms from multiple departments both inpatient and outpatient. Results: Our audit data revealed that out of the total 250 request forms that were analyzed only the names of the patients and the part to be examined was filled completely. The age and gender of the patients were filled in 99.2% and 99.6% forms respectively. 58.4% forms had relevant history written and only 16.4% form had mentioned the relevant investigations. 59.6% forms had provisional clinical diagnosis, name and department of the physician requesting the investigation were present in 75.6% and 66% forms respectively. None of the forms contained the contact number of the requesting physician with 8% forms without the name of the physician and department who had filled the request form. Conclusions: At the end of our audit, we concluded that radiological request forms are rarely filled completely which results in inadequate transmission of clinical information.

Pancreatic Ductal Carcinoma Risk Associated With Hereditary Cancer-Risk Genes.

BackgroundAlthough several hereditary cancer predisposition genes have been implicated in pancreatic ductal adenocarcinoma (PDAC) susceptibility, gene-specific risks are not well defined and are potentially biased because of the design of previous studies. More precise and unbiased risk estimates can result in screening and prevention better tailored to genetic findings.MethodsThis is a retrospective analysis of 676 667 individuals, 2445 of whom had a personal diagnosis of PDAC, who received multigene panel testing between 2013 and 2020 from a single laboratory. Clinical data were obtained from test requisition forms. Multivariable logistic regression models determined the increased risk of PDAC because of pathogenic variants (PVs) in various genes as adjusted odds ratios (ORs) with 95% confidence intervals (CIs). Multivariable odds ratios were adjusted for age, personal and/or family cancer history, and ancestry.ResultsOverall, 11.1% of patients with PDAC had a PV. Statistically significantly elevated PDAC risk (2-sided P < .05) was observed for CDK2NA (p16INK4a) (OR = 8.69, 95% CI = 4.69 to 16.12), ATM (OR = 3.44, 95% CI = 2.58 to 4.60), MSH2 (OR = 3.17, 95% CI = 1.70 to 5.91), PALB2 (OR = 3.09, 95% CI = 2.02 to 4.74), BRCA2 (OR = 2.55, 95% CI = 1.99 to 3.27), and BRCA1 (OR = 1.62, 95% CI = 1.07 to 2.43).ConclusionsThis study provides PDAC risk estimates for 6 genes commonly included in multigene panel testing for hereditary cancer risk. These estimates are lower than those from previous studies, possibly because of adjustment for family history, and support current recommendations for germline testing in all PDAC patients, regardless of a personal or family history of cancer.

Do Clinicians Provide the Laboratory with Sufficient Information? An Audit of Microbiology Laboratory Requisition Form Completion

Background: Pre-analytical errors contribute significantly to the reduced quality of laboratory results and may adversely impact patient management. Appropriate completion of the laboratory requistion form (LRF) by clinical staff is an important element of the pre-analytical phase. As a quality improvement initiative, a sample of LRFs submitted to the Charlotte Maxeke Johannesburg Academic Hospital Microbiology Laboratory was audited. Methods: A pilot study reviewing LRFs for the period 1–18 September 2020 for tissue, pus, sterile site fluids and pus swab specimen types was undertaken. An assessment of the completeness and correctness of information in LRFs was performed. Parameters were assigned to four quality indicator (QI) groups, namely patient identifiers, clinician identifiers, test request and clinical details. Results: An audit of completed LRFs for 172 specimens was performed, suggesting wide variability in the completion of parameters. Clinical details (description of the site of specimen collection, diagnosis and medication) were the most poorly completed components. The contact number of the requesting healthcare worker (HCW) was missing in 91% of requests. The most consistently completed and reliable QI was patient’s details. Other mandatory parameters, including the HCW’s name and practice number, were completed in 95% and 99% of LRFs, respectively. Conclusions: The inconsistent completion of key parameters in the LRF is of concern, and larger studies are warranted to determine the broader implications of our findings. Strategies to improve the completion of microbiology LRFs in this setting include educating the medical staff and students, expanding mandatory fields in the LRF and implementing an electronic requisition system.

Incidence of COVID-19 infection and its variation with demographic and clinical profile: lessons learned at a COVID-19 RT-PCR laboratory in Nagpur, India.

Introduction. The coronavirus disease 2019 (COVID-19) pandemic emerged as a global health crisis in 2020. The first case in India was reported on 30 January 2020 and the disease spread throughout the country within months. Old persons, immunocompromised patients and persons with co-morbidities, especially of the respiratory system, have a more severe and often fatal outcome to the disease. In this study we have analysed the socio-demographic trend of the COVID-19 outbreak in Nagpur and adjoining districts. Methods. The study was conducted from April to December 2020. Nasopharyngeal and oropharyngeal swabs collected from suspected cases of COVID-19 were tested using reverse-transcription polymerase chain reaction (RT-PCR) at a diagnostic molecular laboratory at a tertiary care hospital in central India. Patient-related data on demographic profile and indication for testing were obtained from laboratory requisition forms. The results of the inconclusive repeat samples were also noted. The data were analysed using SPSS v24.0. Results. A total of 46 898 samples were received from April to December 2020, of which 41 410 were included in the study; 90.6 % of samples belonged to adults and 9.4 % belonged to children. The overall positivity rate in the samples was 19.3 %, although it varied over the period. The yield was significantly high in the elderly age group (25.5 %) and symptomatic patients (22.6 %). On repeat testing of patients whose first test was inconclusive, 17.1% were positive. There was a steady increase of both the number of tests and the rate of positivity in the initial period of the study, followed by a sharp decline. Conclusion. We can conclude that rigorous contact tracing and COVID-appropriate behaviour (wearing a mask, social distancing and hand hygiene) are required to break the chain of transmission. Elderly people are more susceptible to infection and should follow stringent precautions. It is also important to perform repeat testing of those individuals whose tests are inconclusive with fresh samples so that no positive cases are missed. Understanding of demographics is crucial for better management of this crisis and proper allocation of resources.