bluuebunny/crossref_metadata_2025_split huggingface dataset:
A rare case of cervical gastric-type adenocarcinoma mimicking bilateral ovarian malignancy in a genetically confirmed Peutz-Jeghers syndrome without known polyposis
Authors: Feng Y , Angel J , Husson M 
Published: November 2023

Abstract

Introduction/Objective
Cervical gastric-type adenocarcinoma (GAS) is rare and accounts for 2-4% of cervical cancer. GAS is usually sporadic but can be associated with Peutz-Jeghers syndrome (PJS), a rare autosomal dominant disorder caused by germline STK11 mutations and characterized by hamartomatous polyposis in the gastrointestinal (GI) tract, mucocutaneous pigmentation, and cancer predisposition. Although cases of GAS may occur in patients with PJS associated with polyposis, our patient with GAS has an unusual and perhaps unique association with the PJS mutation that is unassociated with polyposis.

Methods/Case Report
A 33-year-old female presented with abdominal pain, abnormal uterine bleeding, vaginal discharge, weight loss, and fatigue for one year. Pigmentations were noted on lips, gum, tongue, and hands. She had a family history of maternal ovarian and pancreatic cancers. Computerized tomography revealed large bilateral multiloculated complex cystic adnexal masses, thickened endometrium extending into the endocervix, and ascites.
Tumor markers showed increased CA19-9 and CA125, suggesting either a primary ovarian malignancy or possible metastatic GI tract cancer to both ovaries. Her PAP smear demonstrated atypical glandular cells that favored endocervical origin. HPV was not detected. A cervical biopsy showed bland gastric-type glands without obvious stromal invasion. Given the clinical concern for malignancy, a cervical cone biopsy was performed, demonstrating unequivocal invasion by gastric-appearing glands. The tumor cells were positive for CK7, CEA, and PAX8, and were negative for CK20, CDX2, and p16. The pathologic diagnosis confirmed a primary GAS with a spread to bilateral ovaries. Although the upper GI tract and left colon were free of polyps or masses by endoscopic exam, the genetic evaluation revealed a germline heterozygous STK11 mutation consistent with PJS.

Results (if a Case Study enter NA)
NA

Conclusion
To our knowledge, this is the first case of occult PJS (confirmed by genetic analysis) presenting with widely advanced metastatic GAS without known polyposis.
Endometrial stromal tumor presenting as multiple endometrial polyps with limited infiltration; a novel presentation
Authors: Saikia K , Ziying Z , Wang Z B , Azordegan N , Scialla A 
Published: November 2023

Abstract

Introduction/Objective
The 2020 WHO classifies endometrial stromal tumors into endometrial stromal nodule (ESN), low-grade endometrial stromal sarcoma (LGESS), high-grade endometrial stromal sarcoma, and undifferentiated sarcoma. Minimal irregularity of the interface is allowed in ESN (up to 3 foci of &lt;3 mm). In a small number of cases, the irregular interface exceeds the acceptable criteria for ESN but relatively limited compared to most LGESS. These cases are classified as endometrial stromal tumor with limited infiltration. These tumors may recur, and it is best managed as LGESS.

Methods/Case Report
We report a case of endometrial stromal tumor in a 42-year-old female who presented with abnormal vaginal bleeding. Imaging showed multiple fibroids. She underwent total abdominal hysterectomy and bilateral salpingectomy. On gross examination three endometrial polyps with sharp demarcation from the adjacent myometrium were identified (largest 4 cm). Histology revealed proliferation of uniform small cells with scant cytoplasm and round to oval nuclei with rare mitotic figures in a delicate network of arterioles. Immunostains showed positive staining for CD10 and estrogen receptor while negative for Caldesmon. These polyps were mainly confined to the endometrium with only small foci of irregular border with the myometrium. No vascular invasion, high grade cytologic atypia or necrosis were seen. The tumor showed JAZF1-SUZ12 gene fusion. This case was diagnosed as an endometrial stromal tumor with limited infiltration.

Results (if a Case Study enter NA)
NA

Conclusion
In conclusion, endometrial stromal tumors are commonly submucosal or intramural, we report a rare case that presented as multiple endometrial polyps, with very limited myometrium infiltration. To our knowledge, no cases have been reported so far. It is essential to be cognizant of this entity when dealing with polypoid lesions of the endometrium, they may recur and should be managed as LGESS.
Malignant Melanoma of the jaw and oral mucosa - A rare diagnosis to consider when assessing high-grade tumors on small biopsies
Authors: Tushir A , Belogrivtseva Y , Mazur I , Nobee A , Kuklani R , Proca D 
Published: November 2023

Abstract

Introduction/Objective
Malignant melanoma arises from neural crest-derived cells called melanocytes. These melanocytes migrate to several sites, including the skin and the mucous membranes. Oral melanoma (OM) cases account for &lt;1% of all melanoma cases and &lt;2% of all oral malignancies. Primary malignant melanoma of the jaw is an even rarer entity. Most OM cases arise in the palate and the maxillary alveolar gingivae. Other sites, such as mandibular gingiva and buccal mucosa, are rarely involved. The etiopathogenesis remains unclear, with stimulation of melanoblasts being one of the proposed hypotheses. The incidence is highest in the fifth and sixth decades of life and occurs more commonly in males than females. Clinically, it remains an asymptomatic pigmented growth until it reaches advanced stages. Diagnosis in advanced stages leads to OM having an overall survival (OS) rate of just 15.4% at 10 years with an abysmal prognosis. These neoplasms are highly invasive and metastasize quickly. Of mutations, KIT (14.6%), BRAF (7%) and NRAS (5.6%) were the most frequently encountered in OM cases.

Methods/Case Report
We searched for “oral melanoma” in our healthcare system for the last 10 years- from 2013 to 2022. 4 cases were selected for this case series, and pertinent information was pulled from CoPath and Epic software. The cases were then analyzed, and the results were reported.

Results (if a Case Study enter NA)
In our case series, we found the mean age to be 78.5 years, with 75% (3 of 4) of the patients being male and the rest 25% (1 of 4) female. Three cases were diagnosed with melanoma or malignant melanoma, while the 4th case had atypical melanocytic proliferation favoring malignant melanoma as the diagnosis. Regarding the tumour site, 1 case arose in the right anterior maxilla, 2 cases involved the mandible (left mandible and right anterior mandibular vestibule, respectively), and 1 case was present in the buccal mucosa. Microscopic findings and immunohistochemistry results concurred with the diagnoses.

Conclusion
Herein, we present 3 cases (out of the 4) from rarer sites, such as the mandible and oral mucosa, as opposed to the typical sites- the palate and the maxilla. Discussing rarer cases helps physicians to keep these in the differential while examining similar tumors. Additionally, having rarer cases adds to the literature and focuses attention on entities that require more study and research. Since these neoplasms are highly invasive and metastasize quickly, they necessitate an early diagnosis for effective management.
Pathologists Shortage in United States of America (USA) - How Academic Centers and Private Laboratories Can Play an Effective Role in Recruiting Qualified Future Pathology Residents from Pool of United States (US) and International Medical Graduates (IMGs)
Authors: Prajapati P R , Wells A , Tyler A , Brice J , Perkins C , Ehsan A 
Published: November 2023

Abstract

Introduction/Objective
Pathology training (PT) in the US requires 4 years of AP/CP training. Only 2% of any medical school class (US or IMGs) enter Pathology. However, among practicing pathologists, an estimated 20 to 30% are IMGs that are working in academia/private settings. Even with artificial intelligence (AI) and digital pathology (DP), the need for pathologists will continue to rise, especially those who will acquire AI and DP skills.

Methods/Case Report
Our facility is a private reference laboratory. About 60 to 70% of graduates after residency join private practices. We initiated an education model to offer internship opportunities mainly for IMGs who have difficulty in gaining access to US academic centers due to numerous obstacles. Our initiative also offered electives for US medical students (US-MS) exploring pathology as a career. Between 2016 and 2022, 72 IMGs (12 countries) and 18 MS (5 states) rotated with us in a structured rotation lasting 4 weeks.

Results (if a Case Study enter NA)
Most of our IMGs were not able to find access to academic centers for internship. From the pool of IMGs who rotated with us, 51/72 (70%) matched into PT. In addition, we were able to positively influence 16/18 (88%) US-MS to adopt pathology as a career.

Conclusion
1) We successfully created an educational model in a non-academic setting to mentor and prepare access to academic centers through PT as aspiring pathologists, 2) IMGs in our program excel in their respective countries; they were interviewed before being accepted into our program and committed to pathology with higher chance of matching, 3) US-MS that rotated through our program have higher rate of adopting pathology as a career when compared to traditional academic pathology rotations, and 4) more academic centers should consider allowing internships to IMGs and initiate private collaborations as an integral part of supporting the future of our profession.
Understanding cytomorphologic changes in Pap tests of transgender men on testosterone therapy
Authors: Chiang N , Shumer D 
Published: November 2023

Abstract

Introduction/Objective
Pap test findings in transgender men on testosterone therapy can often lead to misdiagnosis of dysplasia, especially in the setting of a positive HPV test. We reviewed relevant literature to analyze the cytomorphological nuances and applicable correlations to subsequent pathology in Pap tests of transgender men on testosterone therapy.

Methods/Case Report
We searched peer-reviewed journals on PubMed, synthesizing five articles published from 2018-2022 that specifically address cytomorphological findings on cervical Pap tests and biopsy results in transgender men on testosterone therapy.

Results (if a Case Study enter NA)
Various cytological changes, such as small parabasal-type cells and transitional cell metaplasia (TCM) can be mistaken for dysplasia in transgender men. In fact, these changes are representative of atrophy due to testosterone, as such findings have been observed in patients undergoing tamoxifen therapy. Small parabasal-type cells are described as clusters or sheets with intermittent nuclear enlargement and hyperchromatic nuclei, whereas TCM comprises flat sheets of cells with oval to spindle-shaped nuclei, powdery chromatin, and prominent nuclear grooves. Relevant clinical history can often help clarify cytologic diagnoses, as Pap tests that show atrophic changes can be misinterpreted as being abnormal. In several cases described in the literature, original diagnoses of atypical squamous cells of undetermined significance (ASCUS) were re-interpreted as atrophic changes after eliciting a history relevant for testosterone therapy. Small parabasal-type cells found on cytology have correlated with sections of the ectocervix that have groups of small hyperchromatic cells attached to the surface of atrophic cervical epithelium or areas of TCM. These cells may be mistaken for endometrial cells, especially in patients over 45 years old. Distinguishing atrophic changes from dysplasia on surgical pathology may modify cytologic diagnoses.

Conclusion
Transgender men on testosterone therapy often retain their cervix, necessitating ongoing cervical cancer screening. However, Pap test results from these individuals often exhibit atrophic changes through the presence of small parabasal-type cells and TCM. Differentiating between atrophy and dysplasia can pose a diagnostic challenge, especially in the setting of positive HPV testing or inflammation. Continued analyses into these cytomorphological nuances will assist providers in refining their diagnostic approaches and providing personalized care to transgender men.
Perception and Awareness Among Students on Bridging the Employment Gap in Clinical laboratory Sciences: A Single Center Experience
Authors: Isabella D , Carbonaro C A , Huq Ronny F M , Faisal M 
Published: November 2023

Abstract

Introduction/Objective
The clinical laboratories within hospitals across the United States are facing a critical and growing shortage of qualified laboratory personnel. Moreover, there has been a steady and alarming erosion in the number of students entering and graduating from medical laboratory training programs. The introduction of robotics in the clinical laboratory during the 1990’s sent the message that Medical /Clinical Technologist would have a reduced role and could, therefore be hired in fewer numbers. Programs closed and in time, resulted in personnel shortages.
With decreased awareness of the profession and increasing number of laboratory professionals retiring, it is essential to attract and retain young talents. We explored various methods used to attract students into the Clinical Laboratory Science profession.

Methods/Case Report
This qualitative study was part of our New York Medical College Master’s in Clinical Laboratory Sciences (CLS) Program recruiting sessions conducted for the undergraduate students. Our goal was to recruit biology students with no career plan after graduation. The graduate school conducted virtual and on campus information sessions for the CLS program. A total of six sessions were conducted between 2021 and 2022. Trying to increase awareness, program brochures were sent to all local colleges that offered Bachelor of Science degrees.
Tours of a hospital clinical laboratories were also offered to students.

Results (if a Case Study enter NA)
College biology and CLS students find the clinical laboratory sciences to be an interesting and exciting career prospect once they are introduced to this profession. Each session produced less than a 5% email interest among attendees. At least one applicant was received from each session. In further study, students who had entered the program in the last three years were surveyed. The majority discovered this career choice by meeting a CLS at work or through a friend or family member. A few developed an interest by seeing COVID information and a Google search for the medical laboratory science profession.

Conclusion
Increasing the visibility of the program by educating students about CLS and the high demand for laboratory professionals with its concomitant high salary is essential for recruitment. After review of these results the individual technologist has been determined to be the best recruiter, having one who speaks proudly of a career, sharing the difference made in the daily diagnosis and treatment of patients is the best recruiting method.
RET Fusion Detection Using IdyllaTM Gene Fusion Assay
Authors: Nutcharoen A , Hoo-Fatt N , Nam M 
Published: November 2023

Abstract

Introduction/Objective
Non-small cell lung cancer (NSCLC) accounts for 80-85% of lung cancers and RET fusions are detected in 1-2% of NSCLCs, 70% medullary thyroid cancers, 20% papillary thyroid cancers, and &lt;1% of solid tumors. Next-generation sequencing (NGS) is frequently used, taking 2-3 weeks, and requires many tissue samples (10-20 formalin-fixed paraffin-embedded, FFPE, tissue sections). The Biocartis Idylla Gene Fusion Assay (IGFA), a rapid real-time walk-away RNA-RTPCR-based system, was used to detect RET, ALK, ROS1, NTRK 1/2/3 rearrangements, and MET exon 14 skipping mutations in a single assay. We hypothesized that the Idylla Gene Fusion Assay would improve patient care by detecting fusion gene(s) with 2 slides in 3 hours.

Methods/Case Report
This retrospective study compares NGS and IGFA using FFPE tissue from The Inova Health System (10 patients total). Two unstained 4-micron-thick sections were obtained per tissue block using aseptic techniques. RET fusion results from NGS and IGFA were compared, as well as turnaround time (TAT) and tissue requirements.

Results (if a Case Study enter NA)
Patient 3 had negative RET fusion by IGFA, but positive results using NGS. Patients 4, 5, and 6 had a positive correlation between IGFA and NGS. Patients 9, 10 and 11 had negative RET results by both IGFA and NGS, however Patient 10 IGFA results detected a positive NTRK3 mutation. Patient 7 was positive for RET mutation by IGFA, but passed away while awaiting NGS results. IGFA generated results in three hours while NGS had an average TAT of 14.82 days. Patients 1, 7, and 8 had insufficient remaining tissue for IGFA. IGFA Cq values were used for quality control.

Conclusion
RET fusions can be detected using the IGFA for timely treatment with limited tissue. This assay is an easy-to-use, walk-away, stand-alone diagnostic tool that can detect gene fusions on the same day, on demand while waiting for NGS results.
Racial Disparity and Blood Group Antigens; COVID-19 High Mortality Rate in Black and Duffy Antigen
Authors: Abdelmonem M , Abdelmonem M , Wasim H 
Published: November 2023

Abstract

Introduction/Objective
As of March 5th, 2022, the novel coronavirus disease 2019 (COVID-19) has been confirmed in 464,809,377 people worldwide, with an approximately 1.31% mortality rate. COVID-19 infection is associated with an aggressive inflammatory response and release of a large amount of pro-inflammatory cytokines known as “cytokine storm.” Cytokine storm is the release of interferons, interleukins, tumor necrosis factors, chemokines, and several other mediators. Chemokines are small protein molecules that act as chemoattractants, leading to the migration of immune cells to an infection site so they can target and destroy invading bodies such as microbes. The Duffy antigen is a broad receptor of chemokines in human blood. Early on, it was found that the overwhelming majority of people of African descent had the erythrocyte phenotype Fy(a-b-) (henceforth Duffy (-)): 68% in African Americans and 88-100% in African people (including more than 90% of West African people).

Methods/Case Report
Subjects under study: This retrospective cohort study analyzed the data from total patients with confirmed COVID-19 infection in the US through March 5th, 2022.The US population 13.4% black, non-Hispanic, 76.3% white, non-Hispanic, Asian 5.9%, 18.5% Hispanic or Latino, and 4.3 all other races. The primary outcomes were hospitalization and in-hospital death.

Results (if a Case Study enter NA)
Results: A total of 79,555,007 patients in the US were tested Covid-19 positive and 968,839 mortalities with a death rate of 1.21%. 661,678 deaths were excluded because they did not have racial details. Among the 968,839 patients who died of Covid-19, 411,078 (62.1%) were white, 89,784 (13.6%) were black, 114,455 (17.3%) were Hispanic or Latino, 5,970(4.2%) were Asian and 7,045(4.8%) all other races. The actual death rate per 100,000 is 313 in white, 330 in black, 254 in Hispanic or Latino, 156 in Asian, and 276 in all other races.

Conclusion
Despite black Americans representing only 13.4% of the total population, they have been heavily hit by the COVID-19 pandemic. The reasons for the especially severe forms of the disease in Black Americans have not been fully uncovered. People with the Duffy (-) phenotype are a high-risk group for the Chemokine Storm. One hypothesis that arguably gives the blood group marker and chemokine decoy receptor Duffy protein plays a central role in stimulating the Chemokine Storm as present in the severe forms of the COVID-19 disease.
Impact of Implementing Point of Care Hemoglobin A1C Testing in an Obstetrics Outpatient Clinic
Authors: Weli Homayemem , Farnsworth Christopher 
Published: November 2023

Abstract
Hemoglobin A1C ≥ 6.0% is associated with increased risk of adverse outcomes in pregnant, diabetic patients and is recommended as a secondary measure of glycemic control in pregnant patients by the American Diabetes Association. However, the utility of A1C point of care testing (POCT) during pregnancy to facilitate rapid counseling and diabetes care, particularly in relatively low-income transient patient populations is unknown. We performed a single center, retrospective analysis of patients presenting to an out-patient obstetrics office with routine, In-lab A1C (n= 70) testing and after the implementation of POCT for A1C (n=75). Demographics, results, physician referral to a nutritionist, counseling, and outcomes were retrieved from the electronic medical record. 9% and 23% of the In-lab group and POCT respectively were referred for nutrition services (p=0.02). 22% of the In-lab group and 42% of the POCT groups received immediate counseling (p&lt;0.01). An inverse correlation was observed between entry A1C and the weeks at delivery with a Pearson r of -0.39 (-0.58-0.16) for the In-lab group and -0.38 (-0.57--0.14) for the POCT group. In conclusion, the implementation of POC A1C testing was associated with immediate counseling and management of pregnant patients.