bluuebunny/crossref_metadata_2025_split huggingface dataset:
Plasma Cell Leukemia with atypical CCND1/IGH fusion and Monocytoid morphology; A Rare Case Finding
Authors: Hanan A , Altaf S , Zhang X , Sheikh-Fayyaz S 
Published: October 2024

Abstract

Introduction/Objective
Plasma cell leukemia (PCL) is a rare and aggressive form of plasma cell dyscrasia, often presenting as a variant of multiple myeloma (MM). It is characterized by the presence of ≥5% circulating plasma cells in peripheral blood, either as a primary or secondary manifestation of MM.

Methods/Case Report
Our case is of a 77-year-old male who presented with epigastric tenderness and bi-basilar crackles. Laboratory results showed severe hypercalcemia, elevated creatinine, leukocytosis, and elevated absolute neutrophil and lymphocyte counts. Imaging revealed widespread lytic lesions in the ribs, scapulae, thoracolumbar spine, and bony pelvis. Peripheral blood smear showed significant macrocytic anemia with rare polychromatophilic cells, numerous immature plasmacytoid cells (&gt;20% of total cell count) and monocytoid morphology. Flow cytometry confirmed a population of monotypic plasma cells (28% of total cells). Bone marrow biopsy revealed a hypercellular plasma cell infiltrate with complex clonal karyotypic abnormalities, including the t(11;14)(q13;q32), rearrangements of 1p, and gain of 1q. FISH analysis showed an atypical CCND1/IGH fusion in 57% of cells, with one fusion, two orange (CCND1), and two green (IGH) signals. The case presented demonstrates a rare instance of an atypical CCND1/IGH fusion in plasma cell leukemia with monocytoid morphology, which poses diagnostic challenges. Prompt and accurate diagnosis is essential for managing the condition, given its consistently poor prognosis despite advancements in therapy over the past decade.

Results (if a Case Study enter NA)
NA

Conclusion
Our case highlights the importance of recognizing rare molecular abnormalities in PCL and suggests that further research into the molecular pathways involved in the disease is needed to improve diagnosis, treatment options and clinical outcomes.
Rare Adult acute leukemia with Coexisting myeloblastic (basophilic differentiation) & B-lymphoblastic subpopulations Case Study
Authors: Elywa A K , Ghaleb F 
Published: October 2024

Abstract

Introduction/Objective
Acute basophilic leukemia is a very rare subgroup of acute myeloid leukemia that is defined in the 2022 WHO classification by presence of at least 20% blast cells in peripheral blood or bone marrow with immature and maturing cells of basophil lineage. The simultaneous occurrence of two hematological malignancies in a middle- aged adult patient is quite a rare event as evidenced by the rare cases reported in the literature. To our knowledge, this is the first case to be reported with concomitant acute basophilic and B-lymphoblastic leukemia in adult patients. these findings necessitates the comprehensive systematic approach to attain accurate diagnosis and plan the appropriate treatment protocol.

Methods/Case Report
Bone marrow aspiration & biopsy procedure was performed under local anesthesia and marrow samples were subjected to: lieshman staining of marrow films and direct examination. Immunophenotypic analysis of marrow aspirate by FACS Canto II flow cytometer. Cytogenetics studies were done as karyotyping and gene mutation detection by FISH.

Results (if a Case Study enter NA)
NA

Conclusion
Morphology of marrow films: 50% Blast cells, group of them are medium to larg-cells with high nucleocytoplasmic ratio and immature chromatin and the other group shows blast cells with sparse basophilic granulations, plus 20% immatue and maturing basophils.
IPT shows two populations:
the Myeloblast population (basophilic differentiation) is Positive for CD45dim, CD34het, CD13, CD33, CD117prt, CD25het, CD123het, cyt MPO part, HLA-DR partial.
the B lineage lymphoblast population is Positive for CD45dim, CD34het, CD19, CD79a, TdT, CD20het, CD38. Cytogenetics studies: hyperploidy 56, (X, Y, 9, 10, 12, 13, 15, 18, 22, mar+ extra-chromosomes)
FISH: +ve for FLT3-ITD mutation.
the picture is by morphology & IPT consistent with biclonal leukemia, myeloid clone (acute basophilic leukemia) & ProB-ALL.
The systematic laboratory approach from careful morphological examination of peripheral blood and bone marrow smears to confirmatory immunophenotypic analysis of marrow specimens by flow cytometry, and the comprehensive cytogenetics analysis, has a vital role in diagnosing such rare and aggressive phenomenon and provide a good chance for planning the appropriate treatment protocol with critical timesaving and cost effectiveness.
Recurrent Plasma Cell Myeloma with Intracytoplasmic Auer Rod-like Inclusions after Autologous Hematopoietic Stem Cells Transplantation
Authors: Niu C , Tran T , Gamayo A , Zhao X , Rezk S , Brem E 
Published: October 2024

Abstract

Introduction/Objective
Plasma cell myeloma (PCM) is a bone marrow based neoplastic disorder of plasma cells (PCs). The detection of intracytoplasmic Auer rod-like inclusions (ARLI) is rare in PCM. The correlation between the ARLI and the diagnosis, recurrence, prognosis of PCM remains unknown.

Methods/Case Report
Retrospective comparison of pathological findings between two separate bone marrow biopsies of a recurrent kappa-restricted, IgA-positive PCM with intracytoplasmic ARLI before and after autologous hematopoietic stem cell transplantation (HSCT) with a 7-year observation. A detailed review of all the published cases of PCM with intracytoplasmic ARLI.

Results (if a Case Study enter NA)
The neoplastic PCs exhibited anaplastic features in the original diagnosis but became relatively mature in the recurrence after the autologous HSCT. The intracytoplasmic ARLI were found in both cases and tended to increase in the recurrence. The patient’s renal function was within normal range at the first diagnosis and during the recurrence. To the best of our knowledge, about 41 cases have been published since the first description of ARLI in 1940 including 16 females (age of onset: 38 to 72 years, mean: 57.7 y), and 25 males (age of onset: 34 to 79 years, mean: 58.2 y). The lysosomal origin of ARLI with the predominance in kappa-restricted, IgG- producing PCM and possible correlation with adult Fanconi syndrome were described. Only 7 kappa-restricted, IgA- producing PCM with ARLI were among them.

Conclusion
Our case is the first recurrent kappa-restricted IgA PCM with ARLI after autologous HSCT. The morphologies of the neoplastic PCs have changed from anaplastic to relatively mature and more have ARLI in the recurrence. However, the correlation with the adult Fanconi syndrome is not observed in our case. The average age at diagnosis is similar between male and female and might be younger than the average age (69 years) at diagnosis for all PCM.
HUMAN IMMUNODEFICIENCY VIRUS’ EXPOSED UNINFECTED NEWBORNS: A VULNERABLE POPULATION WITH SOME DEFECTIVE IMMUNE SYSTEM ELEMENTS AT BIRTH IN YAOUNDE-CAMEROON, CENTRAL AFRICA
Authors: Touangnou Chamda S , NJIKI BIKOÏ J , MEMBANGBI A , MBAGA D , ELANG F , RIWOM S , MAKUE NGUIFFO E , BATOUM V M , NZUNO M , MBONGUE MIKANGUE C , BODA M , MASUMBE NETONGO P 
Published: October 2024

Abstract

Introduction/Objective
The reduction in vertical transmission of human immunodeficiency virus (HIV) in Cameroon, thanks to the success of Option B+ prevention measures, has favored the increase in the rate of HIV exposed uninfected (HEU) infants. The latter, however, present a threefold higher morbidity and mortality than their HIV unexposed and uninfected (HUU) counterparts. With multiple causes, a dysfunction of the immune system would be incriminated but the evidence to demonstrate this and to advocate for a specific follow-up is lacking. This study objective was to determine the effect of in utero exposure to HIV-1 on certain immune elements of HEU newborns.

Methods/Case Report
A Case-control study was carried out in three reference hospitals in Yaounde. From June 2022 to July 2023, demographical characteristics of 62 HEU newborns of positive parturients with undetectable viral load who gave their consent (cases), and 65 HUU (controls) were taken. Then samples of umbilical cord blood were collected under ethical authorization no. BTC-JIRB2022-021. Then, blood count and differential leukocytes count were performed using DF55 DEMIND and May-Grünwald Giemsa Kit. Excel 2007 and R v4.1.3 softwares were used to record and analyze the data, with significance level for a p-value &lt; 0.05.

Results (if a Case Study enter NA)
The average APGAR vitality score (appearance, pulse, grimace, activity, respiration) at 1, 5 and 10 min of life was reduced, but not significantly (p = 0.3) in the HEU (8/10, 9/10 and 10/10), compared to the HUU (9/10, and 10/10); as well as head circumference: (33.16 ± 1.64) cm and (34.8 ± 1.52) cm (p = 0.8) respectively. Unlike leukopenia (p=0.24), umbilical monocytosis (p=0.04) and lymphopenia (p=0.001) were significantly linked to HIV exposure in HEU, signs of inflammation from birth.

Conclusion
HIV exposed uninfected newborns present a drop in immunity and an inflammatory sign at birth, materialised clinically and biologically with a highly significant lymphopenia.
A success story in a low-resource setting: Advancing cancer diagnostics in underserved region
Authors: Abdou B A , Ghaleb F , Gabr A A , Eliraqy M R 
Published: October 2024

Abstract

Introduction/Objective
Shefaa Al Orman Hospital (SOH) is the first oncology hospital in Luxor. Since its inception in 2016, the hospital has served approximately 45,000 patients from Luxor and other governorates. The hospital’s lab provides excellent routine laboratory services.
However, there is a pressing demand for molecular genetics and cytogenetics, that is necessary for diagnosis of hematological malignancies.
This strategic expansion faced several challenges: lack of expertise and the need for special expensive equipment and reagents.

Methods/Case Report
The project started with collaboration with oncologists to convene on a simplified panel with the aim of prioritizing clinically relevant tests.
At first, these investigations were referred to a specialized oncology hospital in Cairo. This entailed 2 problems: transport of samples led to deterioration of the quality of some samples and delay in results reporting.
In the second phase, experienced consultants from Cairo were enlisted to provide training and mentorship to local staff. Infrastructure setup included the allocation of dedicated laboratory space and the procurement of specialized equipment.
Test method selection was used to achieve successful transition. In cytogenetics, we started with FISH technique which, while more expensive, gave rapid and reliable results. After gaining experience, the technique of conventional karyotyping was established. On the other hand, in molecular genetics, we resorted to custom made reagent mix preparation, instead of commercial kits. This approach, while more laborious, is less expensive.

Results (if a Case Study enter NA)
With the gradual successful in-house setup of these tests, there has been a notable reduction of out-sourced samples to 5%. This has led to shorter result turnaround times. Cytogenetics and FISH improved from 4 to 1 week, while molecular genetics decreased from 4 to 2 weeks.
Moreover, the local processing of samples has minimized the risk of sample damage during transportation, ensuring the integrity of test results.

Conclusion
The establishment of the Molecular Genetics and Cytogenetics Laboratory at SOH represents a significant milestone. The hospital has successfully overcome logistical challenges and enhanced diagnostic capabilities for hematological malignancies, contributing to better patient outcomes and satisfaction. Moving forward, the continued investment in infrastructure, personnel training, and quality assurance measures will further strengthen the hospital’s capacity to provide high-quality cancer care to the community.
Critical Result Notifications: What Do Providers Really Think?
Authors: Kavuri S , Okorodudu A 
Published: October 2024

Abstract

Introduction/Objective
Timely communication of critical test results, those that are significantly outside expected ranges and potentially life-threatening, is crucial in patient care. The Joint Commission and other regulatory bodies, such as CMS, CAP, mandate that hospitals have an alert system for reporting critical values. Traditionally, our hospital system communicates these results through phone calls to the responsible licensed provider, a system that has remained unchanged despite the rise of electronic health records. To assess the perception of this system and providers’ readiness to utilize new communication methods, we conducted a survey among healthcare professionals in our institution.

Methods/Case Report
We sent a survey to all providers via broadcast email. It contained 10 questions, some with free-text input, others with categorical or multiple-choice responses. The survey was open for 4 weeks with 2 reminder emails. Of 544 providers who opened the survey, 191 completed it (35.1% completion rate). The majority (84%) of respondents were physicians, with a smaller portion (15%) identifying as advanced practitioners.

Results (if a Case Study enter NA)
Most providers reported using multiple modes to check critical results and did not rely solely on lab notifications, though a minority (7%) depended on phone calls. Only 2 respondents used the smartphone app (EPIC Haiku) for checking results. Notably, over 67% of providers were unfamiliar with different methods of critical result notification, yet nearly 82% indicated they were open to adopting a new system.
A significant proportion (more than a third) felt that phone calls distracted from patient care, suggesting that alternate methods of communication could be beneficial. Despite this, 62% of respondents found these calls useful. However, more than a third did not find the calls helpful, indicating a possible need for improved communication methods.

Conclusion
The survey indicates that while the current system of critical result notifications is useful to many providers, there are clear opportunities for improvement. Implementing secure, smart systems and increasing awareness of these new communication modalities may help reduce distractions and streamline critical result communication. This could also offer providers a customizable approach to receiving notifications, enhancing both patient care and workflow efficiency.
The Decline of Medicare Reimbursement in Clinical Pathology
Authors: Miskiel S , Khreshi S , Bombonati A , Pagliaro A , Khraishi R 
Published: October 2024

Abstract

Introduction/Objective
Access to clinical pathology services nationwide is threatened by the lack of an annual inflationary update for physician reimbursement from the Centers for Medicare & Medicaid Services (CMS). Most recently, the 2024 Medicare Physician Fee Schedule (MPFS) implemented an overall 2.0% reduction in pathology reimbursement. The effects of recent inflationary trends on clinical pathology physician reimbursement are unknown. Thus, our study sought to analyze trends in Medicare reimbursement rates from 2004 to 2024 for clinical pathology procedures.

Methods/Case Report
The Physician Fee Schedule Look-Up Tool from the CMS was queried for the top 30 CPT codes utilized, and physician reimbursement data extracted. Monetary data was subsequently adjusted for inflation utilizing the Consumer Price Index and reported in 2024 US dollars. The average annual and total percent change in reimbursement were calculated for included procedures. A subset analysis was conducted to assess physician pathology clinical consultation services average annual and total percent change in reimbursement pre- and post- 2022 MPFS Update. The compound annual growth rate (CAGR) was calculated using 2024 and 2000 inflation- adjusted monetary data.

Results (if a Case Study enter NA)
Prior to adjusting for inflation, the average physician reimbursement decreased by 6.8% from 2004 to 2024 for included clinical pathology CPT codes. After adjusting for inflation, the average physician reimbursement decreased by 44.0% for included CPT codes. The greatest decrease in reimbursement observed from 2004 to 2024 was for flow cytometry interpretation, 2-8 minutes at 69.5% ($114.44 to $34.95) followed by flow cytometry interpretation, 9-15 minutes at 57.8% ($142.77 to $60.25) and flow cytometry interpretation, &gt;16 minutes at 56.6% ($188.05 to $81.55). The average CAGR was -2.86%. Prior to adjusting for inflation, the average physician reimbursement for clinical pathology consultation services pre-2022 decreased by 0.9%, and when adjusted for inflation, decreased by 30.0%. Post-2022 MPFS revision, the average physician reimbursement for clinical pathology consultation services decreased by 3.5%, and when adjusted for inflation, decreased by 12.2%. The average CAGR pre-2022 was -2.0% and post-2022 was -4.3%.

Conclusion
Medicare physician reimbursement for common clinical pathology procedures is decreasing at an untenable rate annually. It is critical that policymakers understand these trends to ensure continued access to quality clinical pathology care at healthcare institutions.
Challenges of Conducting Point-Of-Care Testing Operations In The Municipal Public Health System Based Ambulatory Care Clinics In New York City
Authors: Sherpa T , Ahmad S , Huq Ronny F M 
Published: October 2024

Abstract

Introduction/Objective
Our New York City Municipal Public Health System- based multisite ambulatory clinics that offer various waived POCT (point of care tests) and provider-performed microscopy (PPM) to our communities, ensure standardization and quality of POC testing across our health system. Our laboratory service conducts system-wide centralized implementation, monitoring and oversight of the POCT operations regarding regulatory compliance, test performance, quality control and training. With our day-to-day POCT operations, like all other clinical laboratories, our ambulatory care clinics encounter various hurdles and challenges. Here we elaborated on the issues we encounter and how we manage to overcome them.

Methods/Case Report
We identified and stratified the challenges that affect our managerial as well as field-level laboratory operations and devised ways to deal with those POCT operational issues.

Results (if a Case Study enter NA)
Among the staffing issues, rapid staff turnover causes significant delays or cessation of POCT operations in our ambulatory care clinics, due to orientation, re-education and ensuring competency to the staff, that conducts POCT in our clinics. Besides, supply shortages, staff shortages and absences due to illness and overwork are the issues, noted at the laboratory field operational level. Delays in the processing of paperwork and new staff recruitments and in the laboratory supply chains are notable management issues.

Conclusion
Even though the vastness and complexity of our multisite ambulatory care network sometimes affect our ambulatory care clinic POCT operation in various challenging way, our timely, planned and coordinated intervention, close monitoring and communication and rapid initiatives handle those issues very effectively to ensure the quality of POC testing for the patient safety and care across our health system, which is one of the largest municipal-based public health care, in the country.
Integrating Biomarker Testing into EHR Systems: Implications for the Laboratory Based on Findings from a Multistakeholder Summit
Authors: Offit C , Emara R , Alvarez B , Lile A , Plotkin E , Starks R , Schiller M , McNair C , Kim J , Waugh W , Huelsman K , Kurtin S , Yu P , Martin N 
Published: October 2024

Abstract

Introduction/Objective
Guideline-driven tumor biomarker testing remains standard of care for precision oncology due to the increasing number of treatment decisions that can be made based on tumor-specific alterations. However, most electronic health record (EHR) systems lack bidirectional interfaces with labs that enable computerized order entry and tumor biomarker testing results. Without these integrations, cancer centers may experience delays in test ordering and resulting, manual data entry errors, and operational inefficiencies that impact patient care and survival outcomes.

Methods/Case Report
To explore how cancer centers, hospitals, oncology practices, and labs integrate EHRs to streamline cancer biomarker testing processes, the Association of Cancer Care Centers (ACCC), in partnership with LUNGevity, convened a multistakeholder summit on Oct. 4, 2023. The summit brought together clinicians, pathologists, genetic counselors, and administrators to discuss practical solutions to issues surrounding interoperability, clinical workflows, and access to clinical data.

Results (if a Case Study enter NA)
Key findings from the summit include:
-EHR-integrated orders and results save time, reduce errors, and streamline clinical workflow. These electronic interfaces enable clear communication between multidisciplinary teams system-wide and ensure that required patient information is readily available at the time of therapy planning.
-Standardized workflows that define test ordering, tracking, and resulting protocols for in-house and send-out testing offer important downstream benefits. Staff should clearly understand how specimens are handled for in-house and send-out testing.
-Integrations should be planned and built based on the EHR/laboratory information systems (LIS) in place can incorporate solutions to integrate with reference labs using HL7 standards and/or add-on modules to enable discrete genomic data elements.

Conclusion
Clinicians, pathologists, and administrators should prioritize EHR/LIS integrations to enable more effective cancer biomarker test ordering and resulting. These pre/post-analytic processes have significant implications for patient care. Findings from this summit can enable cancer programs and labs to evaluate current processes, work collaboratively to build integrations, and streamline biomarker testing workflows to enhance the quality and efficiency of delivering precision oncology.