bluuebunny/crossref_metadata_2025_split huggingface dataset:
Personalized Liquid Biopsy May Predict Relapse in Aggressive Endometrial Cancer
Authors: Harris F , McCune A , Murphy S , Smadbeck J , Ali M , Penheiter A , Karagouga G , Sadeghian D , Cucinella G , Mariani A , Vasmatzis G 
Published: November 2022

Abstract

Introduction/Objective
High-grade endometrial cancer (EC) recurs in 50% of patients following surgery and first-line chemotherapy. There are no established blood-based biomarkers with sufficient specificity and sensitivity to monitor EC patients for residual disease and recurrence. The ability to detect and monitor EC currently relies on serial imaging based approaches. Liquid biopsies via blood-based tests for cell-free circulating tumor DNA (ctDNA) are becoming increasingly popular, but none have been FDA approved for EC and current approaches have not been validated in patients with uncommon tumor mutations. We hypothesized that personalized testing panels based on tumor-specific chromosomal rearrangements would allow ctDNA to be monitored and that ctDNA presence correlates with other clinical indicators of recurrence.

Methods/Case Report
Twelve patients with FIGO Stage I-IV and biopsy confirmed high-grade EC were prospectively enrolled and underwent primary tumor resection. DNA was isolated from tumor tissue and sequenced on Illumina NGS platforms [San Diego, CA]. BIMA algorithm and SVAtools identified junctions of somatic chromosomal rearrangements and 4-5 junctions were chosen per patient, based primarily on copy number/amplification level. Blood was collected before surgery, and longitudinally between 1 and 7 timepoints. Total cell-free DNA (cfDNA) was extracted from platelet poor plasma with the Qiagen CNA kit [Germany]. Personalized ctDNA qPCR Taqman [IDT, Coralville, Iowa] probe assays were developed with pooled pre-amplification to maximize sensitivity for the multiple junctions and normalized to input.

Results (if a Case Study enter NA)
ctDNA was detected in 9/12 and 5/12 cases pre- and post-surgery, respectively. The detection or absence of measurable ctDNA following surgery showed high correlation with cancer recurrence as detected by CT or MRI scans.

Conclusion
The detection of ctDNA in high-grade EC using personalized junction panels shows promise for a blood-based assay that may help physicians better monitor and treat patients.
Vulvar Perivascular Epithelioid Cell Tumor: A Case Report of a Rare Neoplasm in an Uncommon Site
Authors: Alassfar M , Rayes-Danan R , Hammad A , Abramovich C , Ganesan S 
Published: November 2022

Abstract

Introduction/Objective
Perivascular epithelioid cell tumors (PEComas) are rare mesenchymal neoplasms that arise in a variety of soft tissue and visceral sites. In the female genital tract, PEComas arise in the uterine corpus and are rarely identified outside the uterus, with only a few cases reported in the vulva in the English literature.

Methods/Case Report
We report a case of a 75-year-old African American female, with a history of smoking and type II diabetes, who presented with a painless and mobile introital mass (2.5 cm). Incision and drainage were done, and a curettage sample was submitted for surgical pathology. Histologic features of the lesion revealed nests of epithelioid tumor cells with eosinophilic cytoplasm, round to oval nuclei and prominent nucleoli, in addition to thin-walled capillary vessels between nests of tumor cells. Immunohistochemical stains showed the tumor cells were positive for smooth muscle actin, MiTF, cathepsin-K, and focal MSA. Melan-A showed focal patchy staining. SMARCA4 and INI1 showed normal/retained nuclear staining. The tumor cells were negative for TFE3, vimentin, PAX8, p63, keratin, CK7, CK20, EMA, CK5, desmin, myoglobin, CD45, CD68, CD138, CD163, GATA3, chromogranin, synaptophysin, INSM1, S100 protein, HMB45, SOX10, inhibin, calretinin, CD31, and CD34. The tumor was morphologically and immunophenotypically consistent with PEComa. Complete excision of the lesion showed a 1.2 x 1.0 x 0.6 cm well circumscribed lesion, with no infiltrative borders and clear margins. The morphologic features of the tumor, including the relatively small size with absence of tumor necrosis, vascular invasion, and high mitotic activity favor a benign nature of this PEComa and suggest a low risk of recurrence. Therefore, no additional treatment was indicated.

Results (if a Case Study enter NA)
NA

Conclusion
PEComas are uncommon mesenchymal neoplasms that arise from distinctive perivascular epithelioid cells, typically arranged around blood vessels and usually express combined myomelanocytic immunophenotype. There are only a few reported cases of PEComas in the vulva. Malignant neoplasms tend to be ≥ 5cm and illustrate nuclear atypia, marked pleomorphism, conspicuous mitoses, vascular invasion and infiltrative margins. Based on the gross and microscopic features, the tumor in our case is likely to behave in a benign fashion; however, more studies are needed to further understand the behavior and the pathophysiology of vulvar PEComas.
Case report: carcinosarcoma of the fallopian tube
Authors: Sun Y , Takeda K , Stalls J , Sutton A , Chen S 
Published: November 2022

Abstract

Introduction/Objective
Carcinosarcoma is a malignant biphasic tumor composed of carcinomatous and sarcomatous elements. Carcinosarcoma of the fallopian tube is an extremely rare malignancy with fewer than 100 cases reported in the literature. We report a rare case of carcinosarcoma arising from the right fallopian tube.

Methods/Case Report
A 72-year-old female presented with worsening vaginal discharge and abdominal cramps.
Abdominal computed tomography detected a right adnexal mass. A torsed fallopian tube with a large mass was identified intraoperatively. Grossly, a 3.1 cm tan friable mass was seen protruding from the right fallopian tube lumen with numerous detached tumor fragments (9.4 cm in aggregate). Microscopically, the tumor was biphasic with a major mesenchymal component and minor epithelial component. A solid pattern of spindled and epithelioid cells with heterologous element of chondrosarcoma and a separate component with features of high-grade serous carcinoma in cribriform and solid sheets with slit-like spaces were seen. Both components showed marked nuclear atypia, pleomorphism, prominent nucleoli, and frequent mitoses. Both components were positive for p53, PAX-8, and beta- catenin immunohistochemistry, with a Ki-67 index of 80-90%. The sarcoma component was positive for p16, vimentin, and smooth muscle actin; the carcinoma component was positive for WT1, pan-cytokeratin, and cytokeratin 7. Pelvic washings were negative for malignancy. Metastases were not identified. Chemotherapy with paclitaxel and carboplatin was initiated with no recurrence identified 17 months after treatment.

Results (if a Case Study enter NA)
N/A

Conclusion
Proper identification and reporting of rare malignancies, such as this fallopian tube carcinosarcoma, with treatment and follow up, provide oncologists with the necessary information to advance treatment.
Plasma cell neoplasm with initial presentation as an ovarian mass: a rare case report
Authors: Shirai S , Wang W , Guo T , Buryanek J , Chen L 
Published: November 2022

Abstract

Introduction/Objective
Plasmacytoma is a discrete, solitary mass of neoplastic plasma cells. Extramedullary plasmacytoma (EMP) is a rare entity arising in tissues other than bone and it constitutes about 1% of all plasma cell neoplasms. Most cases of reported EMPs are in the upper aerodigestive tract (~80%). We present a very rare case with the initial presentation as an ovarian mass with metastasis into the peritoneal and pleural cavity.

Methods/Case Report
This is a 66-year-old female who presented with generalized abdominal pain, unexpected weight loss, and occasional fever and night sweats. Computed tomography (CT) scan of abdomen and pelvis showed an extensive metastatic disease including bilateral cardiophrenic angle lymphadenopathy, peritoneal spread encasing the bowel loops, bladder, and uterus as well as moderate right pleural effusion. The positron emission tomography (PET)-CT showed an ill-defined soft tissue density in the pelvis with hypermetabolism. The pelvic ultrasound showed a 2.6 x 2.2 x 1.1 cm hypoechoic mass in the left adnexa. The patient's serum cancer antigen (CA-125) was elevated at 123 U/mL and the post-thoracentesis chest x-ray was unremarkable with no acute osseous abnormalities. Other clinical data were not available.

Results (if a Case Study enter NA)
Cytopathologic evaluation of the pleural fluid showed abundant atypical cells with eccentrically located nuclei, scant to moderate cytoplasm with a paranuclear hof, frequent binucleation and mitoses. The cells ranged in size from small to large. Further immunohistochemical (IHC) analysis on the cell block showed that the tumor cells diffusely positive for CD138 and lambda light chain and negative for MOC31, BerEP4, calretinin, D2-40, WT1, HHV8, ALK1, and EBER in situ hybridization (ISH). The biopsy of the left adnexal mass showed a diffuse proliferation of tumor cells with frequent mitotic figures. The IHC analysis on the biopsy specimen showed tumor cells positive for CD79a and CD56 (weak) and negative for CD20 and PAX5. Kappa/lambda ISH analysis confirmed lambda light chain restriction of the tumor cells. These morphological and immunophenotypic features were consistent with plasma cell neoplasm.

Conclusion
The ovary is an unusual location to be involved by plasma cell neoplasm. We use this case to remind the pathologists and clinicians that ovarian plasmacytoma can be the initial presentation of the plasma cell neoplasm, although rare, and to aid the patients to receive an appropriate treatment. A thorough workup is needed to make an accurate diagnosis of this entity.
Spectrum of cervical cancer among women screened for cervical cancer in Nakuru County Referral Hospital Laboratory, Kenya
Authors: mokua G M 
Published: November 2022

Abstract

Introduction/Objective
Cervical cancer is the leading cause of cancer-related deaths in Kenya and the second most common cancer among females. However, the prevalence of this type of cancer at Nakuru county is not known. We sought to establish the spectrum of this cancer among women who were attended at Nakuru county referral Hospital between 2015-2019.

Methods/Case Report
A retrospective descriptive cross-sectional study was carried out among women screened for cervical cancer between January 2015 and December 2019. One thousand and thirty-one (1031) records were retrieved. Data extracted were analyzed using SPSS version 21. Approval to conduct the study was obtained from the hospital institutional review board;

Results (if a Case Study enter NA)
Among the 1,031 women whose records were reviewed, 81 (7.9%) had lesions, while 950 (92.1%) had no lesions. Results for pre-cancerous and cancerous according to age group were as follows: 15 – 25 years (3.4%), 26 – 35 (6.3%), 36 – 45 (10.1%), 46 – 55 (5.2%), 56 – 65 (8.9%), 66 – 75 (15.1%), 76 years and above (4.5%). Those who had HSIL were 4.9%, LSIL 2.3%, ASC-H 0.4% and ISCC 0.2% respectively.

Conclusion
The percentage for pre-cancerous and Cancerous lesions of women of younger age group between 15–25 years was low at 3.4% while percentage for older age group for pre-cancerous and Cancerous lesions was at 10.1%, 8.9% and 5.2% respectively. This necessitates the need for increased campaigns for cytology screening for cervical lesions. This would reduce morbidity and mortality associated with cancer of the cervix.
A Cost Comparison Modeling Analysis for Healthcare Access and Equity: Cost of COVID-19 Test Screening by Point of Care (POC) Versus Rapid Reverse Transcriptase Polymerase Chain Reaction (RT-PCR)
Authors: Petersen J M , Jhala A 
Published: November 2022

Abstract

Introduction/Objective
Testing platforms to detect COVID-19 infection include antigen-based point of care (POC) testing and reverse transcriptase polymerase chain reaction (RT-PCR) to detect viral ribonucleic acid (RNA). RT-PCR, generally considered the gold standard for diagnosis of COVID-19 infection, is capable of being used for mass population screening but may be more expensive. Alternatively, antigen based POC testing can not only produce results rapidly (15 minutes on some assays) but also may be less expensive. This reduced cost provides an argument that it may be economical to use POC testing for mass surveillance in asymptomatic or mildly symptomatic patients while reserving the more expensive gold standard RT-PCR testing for sensitivity for hospitalized and more significantly at risk or ill patients. However, cost modeling between the two modalities for mass screening is sparse, particularly for studies including the Veteran Affairs system that may have different costs from the general community retail pricing.

Methods/Case Report
Cost information reviewed at the regional VAMC included costs for the Alinity-m SARS-CoV-2 RT-PCR assay (Abbott, Chicago IL), the Cepheid Xpert-Xpress-CoV-2-Flu-RSV-Plus RT-PCR assay (Cepheid, Sunnyvale CA), and the BinaxNOW POC antigen-based assay (Abbott, Chicago IL). The median cost of RT-PCR testing in the community was obtained from the Peterson-KFF Health System Tracker. Publicly available quoted prices for selected POC assays in the community were reviewed for comparison.

Results (if a Case Study enter NA)
Test costs at the regional VAMC was $28.34 (Alinity-m), $68 (Cepheid), and $5 (BinaxNOW). These costs did not include technologist time or standard laboratory consumables that would be part of the standard overhead costs of running the laboratory. The median community RT-PCR assay price per the Peterson- KFF Health System Tracker was $148, and the Abbott’s quoted BinaxNOW price was $25. POC testing cost was 82% less than the cheapest RT-PCR assay available at the regional VAMC. This trend in being significantly cheaper holds true in the community whereby BinaxNOW testing was 83% cheaper. Publicly available quoted prices from other selected POC assays confirm this trend.

Conclusion
For a mass surveillance screening program, the use of POC assays would result in significant cost savings.
An Illustrative Model of Economically Utilizing Point of Care and Reverse Transcriptase Polymerase Chain Reaction Testing to Reduce Costs and Help Balance Supply and Demand
Authors: Petersen J M , Jhala A 
Published: November 2022

Abstract

Introduction/Objective
Both point of care (POC) antigen-based assays and reverse transcriptase polymerase chain reaction (RT-PCR) laboratory-based assays exist for diagnosis of COVID-19. COVID-19 RT-PCR tests are the gold standard based on their higher sensitivity. However, in this era of inflation and supply chain disruptions, the use of only RT-PCR tests would be more expensive and may be vulnerable to reagent supply chain shortages. Triage of resources of both test types is important in ensuring access and equity in testing distribution as well as ensuring economical RT-PCR testing access for sicker patients. A comparison of costs was explored by contrasting a model of cost effectively reserving RT-PCR tests for those with significant disease requiring hospitalization and using POC tests for those with mild disease (defined as at most mild symptoms not requiring hospitalization) versus universal provision of RT-PCR to all.

Methods/Case Report
Cost information from the regional Veteran Affairs Medical Center (VAMC), specifically for the Alinity-m (RT-PCR) and BinaxNOW (POC) by Abbott (Chicago IL), and from the community (median COVID-19 RT- PCR pricing obtained from the Peterson KFF Health System Tracker) were included. Based on this cost information, a model of 100 tested COVID-19 suspected patients was created. A percentage of mild disease not requiring hospitalization (81%) was utilized based on literature from early in the COVID-19 pandemic.

Results (if a Case Study enter NA)
The cost per test at VAMC factored in was $28.34 (Alinity-m) and $5 (BinaxNOW). The median community RT-PCR and POC price factored in was $148 and $25, respectively. From the model of 100 COVID-19 with a mild disease percentage of 81%, the total testing cost of including POC assays for mild cases vs. universal RT-PCR assays would be $943.46 vs. $2,834 at the VAMC and similarly $4,837 vs. $14,800 in the community for a 67% reduction in costs at both settings.

Conclusion
A model of testing including both POC and RT-PCR testing may be economical and critically help ensure triage of resources in this era of inflation and supply chain shortages.
An Autopsy Case Report of ARDS Caused by Tumor Lysis Syndrome in A Patient with Mantle Cell Lymphoma
Authors: Cai D , Onur P 
Published: November 2022

Abstract

Introduction/Objective
Acute respiratory distress syndrome (ARDS) is a type of respiratory failure caused by diffuse injury to surfactant-producing cells and fluid buildup in the alveoli. ARDS impairs lung's ability and is potentially fatal. Tumor lysis syndrome is an oncologic emergency mostly triggered by the initiation of chemotherapy causing life- threatening metabolic cascades even with preventable therapies.

Methods/Case Report
We report an autopsy case of a 71-year-old male who was referred to the Emergency Department with complaints of poor appetite, dizziness, nausea. He was found to have a white blood cell count over 1,000,000, with hemoglobulin of 7.7, platelet count of 95, uric acid 11.5, LDH 486. He was diagnosed with mantle cell lymphoma (MCL) involving peripheral blood and received Allopurinol for tumor lysis syndrome prophylaxis. He started to receive Rituximab. Soon after, he became lethargic and more hypoxemic and needed intubation. But he became pulseless and he did not recover.

Results (if a Case Study enter NA)
The autopsy revealed an extensive spread of the lymphoma to multi-organs, including the esophagus, spleen, liver, kidney, heart, prostate. Bone marrow and lymph nodes were diffusely infiltrated by atypical medium lymphocytes. Stains on lymph nodes show the atypical lymphocytes are positive for CD20, CD5, Cyclin D1, Bcl2, negative for CD23, Bcl6, with a Ki-67 proliferative index around 40%, consistent with MCL. The patient's lungs were heavy and microscopic examination confirmed ARDS.

Conclusion
We, here describe a patient with MCL who developed tumor lysis syndrome with Rituximab monotherapy and died of ARDS shortly after. It's rarely reported that tumor lysis syndrome results in fatal ARDS.
Automated Clinicopathologic Correlation Integrating Clinical Findings, Suspicions, Hematopathology Tests and Previous Records
Authors: Elsafty A M , Ahmed Y M 
Published: November 2022

Abstract

Introduction/Objective
Conducting clinicopathologic correlation (CPC) to provide comprehensive diagnosis, prognosis/risk assessment, follow up and/or recommendations is essential in Hematopathology. The clinical findings/suspicions and medical history contribute in building a personalized diagnosis and prognosis, while comparing with the previous records is required for specialized follow-ups and progression assessment. HIPAA violation liability and changeable medical guidelines limit the "freelance outsourcing" of Hematopathology assistance/second opinion. The proposed electronic Hematopathologist assistant could play this role perfectly, because automation in Hematopathology is easier when compared with other medical specialties. This is because only visual sense is needed for Hematopathology review/examination while automating more than one sense is needed in medicine and surgery.

Methods/Case Report
Scalable, customizable and fully controlled system is developed harnessing the state-of-the-art technologies. The user selects specific answers in smart hierarchical choice lists about specimen types, medical history, clinical findings and suspicions. Then, the available current and previous results of the performed diagnostic and prognostic test panels are needed to be entered and dated. These panels include quantitative and qualitative parameters of the complete blood count (CBC), smear review, flow cytometry, immunohistochemistry, cytogenetics and/or molecular studies. Zero harm to the patients privacy is achieved, there is no personal information entered or needed.

Results (if a Case Study enter NA)
Based on the entered results, detailed interpretation for each test panel is created to explain how the generated comprehensive CPC is built. Furthermore, the CPC is concluded in one line, this is an informative and summative title for the case. The system is also used as a triage advisor, it suggests the useful parameters to be triaged considering the choosing wisely recommendations and providing the potential percentage of resulting positive/abnormal in similar specific cases. All possible generated test panel interpretations, CPCs and case titles are reviewed and validated.

Conclusion
This system generates preliminary versions for the Hematopathologist to review, leading to productivity increase with no medical liability or feeling fatigued and stressed. This also helps to increase the profitability and cover the shortage.
Uncommon Variant of CD4+ T-cell Large Granular Lymphocytic Leukemia
Authors: Gao Y , Wang W , Chen L 
Published: November 2022

Abstract

Introduction/Objective
T-cell large granular lymphocytic leukemia (T-LGL) is a T-cell lymphoma with persistently increased large granular lymphocytes in peripheral blood. The majority of T-LGL is associated with CD8+ T-cells. However, the CD4+ variant is uncommonly seen.

Methods/Case Report
The patient is a 49-year-old female with a history of diabetes mellites and anemia who presented with shortness of breath, lower extremities edema, and fatigue. Physical examination showed a significantly distended abdomen. CBC results showed hemoglobin 6.9 g/dL, WBC 18.2 × 109/L with 88% lymphocytes, and PLT 190,000. The peripheral blood smear presented lymphocytosis with LGL cells, microcytic anemia, and increased target cells. Bone marrow biopsy showed lymphoid infiltrate as an intravascular pattern confirmed by immunochemical stains. A complete workup including flow cytometric, cytogenetics, and molecular studies was performed on the bone marrow. The lymphoma phenotype by flow shows positivity for CD2, CD3, CD4, CD5 (bright), CD7 (partial/dim), CD56, CD57 (majority), TCRαβ. T-cell gene rearrangement was detected and was further confirmed by PCR with the detection of clonal TCR beta gene rearrangements on molecular genetics analysis. However, STAT3 was not detected. The patient was diagnosed with CD4+ T-LGL leukemia.

Results (if a Case Study enter NA)
NA.

Conclusion
CD4+CD8- immunophenotype is an uncommon variant of T-LGL, which has a high incidence of activating STAT5B mutation, while CD8+CD4- T-LGLL tends to have STAT3 mutation. Clinically, those two subtypes behave similarly. Flow cytometry is the golden method to confirm the diagnosis. More research is needed to clarify the essence of CD4+ T-LGLL.