bluuebunny/crossref_metadata_2025_split huggingface dataset:
Dissecting Diagnostic Discrepancies between Intraoperative and Permanent Head and Neck Pathology Sections at a Large University Medical Center
Authors: Gutierrez Alonso D , Paulo De Lima Guido L , Langlie J A , Velez-Torres J , Garcia-Buitrago M T , Gomez-Fernandez C 
Published: November 2022

Abstract

Introduction/Objective
Accurate correlation between intraoperative frozen section (FS) and subsequent permanent section (PS) diagnoses is essential for quality patient care. Intraoperative FS is used for confirmation of diagnoses and margin status (MS) evaluation in head and neck (H&N) pathology. Reported FS-PS discrepancy rates for H&N cases range between 1.42% to 1.80%, mostly due to sampling and interpretation errors. We sought to review our experience with FS and concordant PS from H&N pathology cases diagnosed at a high volume, university medical center.

Methods/Case Report
Correlation was performed between intraoperative FS and paraffin-embedded PS of H&N surgical resections between January 2019 to December 2021. FS-PS discrepancies were classified due to “sampling” or “interpretation”. Recurrence rates based on a 2 year follow up period of 2019 cases was also recorded.

Results (if a Case Study enter NA)
2337 H&N cases yielded 11108 intraoperative FS diagnoses. FS-PS correlation identified 142 (1.27%) discrepancies. Of these, 85 (60%) were for MS control, comprised of 45 (53%) due to “sampling” and 40 (47%) to “interpretation”. FS slides generally represented a single top section taken from the tissue, with “sampling” discrepancies due to discordant diagnoses identified on a deeper cut of tissue on the PS slides.
Common “interpretative” discrepancies included overlooking high-grade dysplasia. For patients diagnosed in 2019, we found that 6% of discrepant cases of locoregional disease over a 2 year follow up period were due to inadequate margin control.

Conclusion
Our institutional intraoperative FS-PS discrepancy rate for H&N pathology cases is 1.27%, and within the national quality standards. Our FS-PS discrepancy rate for H&N cases related to MS control were mostly due to “sampling". Intraoperative review of deeper cuts of FS tissue and in service instruction for pathologists regarding intraoperative reporting of high-grade dysplasia will be the subject of a prospective study for potential improvement of “sampling” and “interpretative” discrepancies, respectively. Future studies hope to minimize the cases of locoregional occurence due to inadequate margin status.
Adenosquamous carcinoma of the head and neck: epidemiological features and outcome analysis
Authors: Deb P Q 
Published: November 2022

Abstract

Introduction/Objective
Adenosquamous carcinoma (ADSC) is a rare, aggressive malignancy that commonly arises in the lung, pancreas, and genitourinary tract. It has rarely been reported to arise in the head and neck area. Histologically, this entity comprises two distinct components: squamous cell carcinoma (SCC) and adenocarcinoma, with each component comprising at least 10% of the tumor mass. Due to its rarity, the epidemiological features, and patient outcomes of ADSC in the head and neck region have not been studied.

Methods/Case Report
Here, we have used the National Cancer Institute's Surveillance Epidemiology and End Results database to query the data of all head and neck ADSC cases. Cases with only histological evidence of diagnosis were included in the study. We used descriptive statistics to show all patients' epidemiological and management features. Kaplan-Meier curves, cox proportional regression, and multivariate regression analysis were used to evaluate how patient outcomes are affected by the age of diagnosis, sex, race, tumor grade, and management. All data were analyzed in SPSS v.25 (IBM, NY).

Results (if a Case Study enter NA)
We identified two hundred and twenty-three cases of ADSC of head and neck with histological diagnostic evidence. The distribution of age at diagnosis was unimodal, with most patients being diagnosed before the age of 50 years. Most patients were Caucasian and male. The majority of tumors were graded as poorly differentiated, with the salivary gland and larynx being the most common two sites. We also found that surgical management of the primary site significantly improved the outcome. Other variables such as age at diagnosis, race, sex, tumor grade, and the site did not affect the disease-specific survival of the patients.

Conclusion
Our study highlights this rare entity's relevant pathological, epidemiological, and outcome features and helps us understand this neoplasm better.
Microsecretory Adenocarcinoma of the Palate: A case report illustrating a recently recognized entity
Authors: Hosseini H , Sham S , Guerrero D , Kraus D H , Krevitt L D , Fantasia J E 
Published: November 2022

Abstract

Introduction/Objective
Microsecretory adenocarcinoma (MCA) is a recently recognized malignancy of the salivary glands that almost exclusively arises in the oral cavity with the hard palate being the most common site. To our knowledge, there are only 24 cases of MCA reported in the English literature, all of which displayed a notably consistent histology and immunohistochemical profile. MCA is a low-grade and well-circumscribed tumor with subtle infiltration into the surrounding soft tissue. A cellular fibromyxoid stroma containing microcystic tubules with abundant intraluminal basophilic secretions are distinct histologic features. Immunohistochemically, MCA is positive for S100, p63, and SOX10, and lacks expression of p40, calponin, and mammaglobin. MEF2C-SS18 fusion gene defines MCA molecularly.

Methods/Case Report
A 43-year-old woman underwent a biopsy of a sessile, nontender, papillomatous, flesh-colored lesion of the right hard palate. No evident bone erosion or cervical lymphadenopathy were detected on imaging. Histology showed stratified squamous epithelium with focal pseudoepitheliomatous hyperplasia and an underlying salivary gland neoplasm consisting of microcystic tubules that were embedded in a scant myxoid stroma. Immunohistochemically, the neoplastic cells expressed S100, SOX10, AE1/AE3, CAM5.2, and p63, while negative for p40 and mammaglobin. In light of the histology and immunohistochemistry, a diagnosis of microsecretory adenocarcinoma was rendered. Right palatectomy and partial maxillectomy was subsequently performed. The specimen was notable for a 0.8 cm well-circumscribed, white-tan, submucosal solid mass that displayed an identical histology to the biopsy and involved the deep margin. No perineural or lymphovascular invasion was identified.
Surveillance exam and MRI show no recurrence after one year.

Results (if a Case Study enter NA)
NA

Conclusion
MCA is a newly defined entity that has an indolent clinical course with no reports of metastasis or recurrence after complete surgical resection. It is crucial to distinguish MCA from malignancies it resembles morphologically to avoid aggressive therapy. In challenging cases, molecular analysis can help the pathologist achieve the final diagnosis.
Intraosseous Xanthoma of the Mandible: A Case Report of a Rare Entity and Review of Literature
Authors: Luceno S , Kuklani R 
Published: November 2022

Abstract

Introduction/Objective
Intraosseous xanthoma of the mandible is an extremely rare, benign lesion with less than 40 cases reported to date. These lesions are often secondary to systemic disease such as hyperlipidemia or diabetes mellitus and commonly occur in the second and third decades of life. There is no gender predilection, and the gnathic location is often the posterior mandible. The most common radiographic presentation is a unilocular radiolucency with “punched-out” or corticated margins. These lesions are incidental findings during radiographic examination; patients are often asymptomatic at the time of diagnosis. The recommended treatment for intraosseous xanthomas consists of thorough curettage and has an overall good prognosis as recurrence is rare.

Methods/Case Report
We report a 63-year-old male with a 0.7 x 0.25 cm radiolucent, multilocular lesion. While the radiographic impression was that of an odontogenic keratocyst, histopathologic features were consistent with that of an intraosseous xanthoma lesion consisting of foamy histiocytes that were CD68 positive and S100 negative by immunohistochemistry.

Results (if a Case Study enter NA)
NA

Conclusion
This case represents the diagnostic challenges that can arise due to a nonspecific clinical and radiographic presentation. Moreover, the importance of combining histopathological findings to radiographic imaging and clinical history to achieve an accurate diagnosis and provide the most effective treatment.
Application of the Jhala Risk Scoring System (JRSS) to a SARS-CoV-2 Sequenced Population
Authors: Petersen J M , Jhala D 
Published: November 2022

Abstract

Introduction/Objective
Much was unknown initially regarding the triaging of scarce resources to manage the COVID-19 disease, particularly for prognosticating hospital admission needs, which contributed to the healthcare resource supply crisis. Thus, the authors developed the simple Jhala Risk Scoring System (JRSS). There is no report in the English literature that has explored a risk scoring system in patients with a SARS-CoV-2 sequencing result demonstrating different SARS-CoV-2 strains; hence, presented here is a first report.

Methods/Case Report
The JRSS assesses risk factor points based on patient’s age, ethnicity, pulmonary medical history, cardiovascular medical history, diabetes history, smoking history, and laboratory parameters. From the veteran patients who had been sequenced for COVID-19 from March 2021 to June 2022 with available clinical notes or follow-up, the JRSS was applied to obtain a JRSS score. This JRSS score was then compared with the patient’s admission status, SARS-CoV-2 sequence result, and survival. A JRSS score of 7 or greater would designate higher risk.

Results (if a Case Study enter NA)
There were a total of 11 COVID-19 positive patients meeting the inclusion criteria during the study period. 4 of these 11 patients were from March to May 2021. The patient ages ranged from 55-80 years of age and consisted of 2 Caucasian Americans and 2 African Americans. Of these 4 patients, 1 was treated as an outpatient (JRSS score 2), 2 were treated in the intensive care unit within which 1 expired (both JRSS score 9), and 1 was treated on the medical floor (JRSS score 7). All 4 patients from March to May 2021 sequenced to have Pango Lineage B.1.1.7.
7 of the 11 patients were from May to June 2022. The patient ages ranged from 69-86 years of age and consisted of 4 Caucasian Americans, 2 African Americans, and 1 decline to state. Of these 7 patients, 1 patient expired in the CLC (JRSS score 10). 5 recovered within the CLC with JRSS scores of 5, 7, and 8 for 2, 1, and 2 patients respectively.
One patient required hospitalization (JRSS of 6 based clinically only as lab parameters were not performed). All 7 patients except for 1 sequenced for BA.2.12.1, a subvariant of Omicron. The 1 patient who sequenced with a different Omicron subvariant (BA.2.9) was one of the 5 patients who recovered from infection within the CLC.

Conclusion
The JRSS, developed early in the pandemic, is a very simple and highly successful system that helps in prognostication even with the Omicron outbreak.
Neuropathology Outreach in Ghana
Authors: Goold E , Klonoski J , Palmer C , Adjei E , Guajardo A , Abrahams A 
Published: November 2022

Abstract

Introduction/Objective
Ghana has a population of over 31 million people and approximately 15 neurosurgeons but is currently without a dedicated neuropathologist. Here we present a month of neuropathology outreach performed at the Komfo Anokye Teaching Hospital (KATH) in Kumasi and the Korle-Bu Teaching Hospital (KBTH) in Accra.

Methods/Case Report
In February of 2022, a second-year neuropathology fellow and a board-certified neuropathologist traveled to Ghana to give 40 approximately 1.5 hour neuropathology didactic and interactive teaching sessions. A two-week format of outreach was developed for each site in Ghana and consisted of didactic lectures and interactive sessions covering the WHO 2021 brain tumor classification system, neuroautopsy, neuroinfectious disease, neurodegenerative disease, neuromuscular disease, forensic neuropathology, neurodevelopment, and unknown case conferences. Meanwhile, a pathology trainee worked remotely to organize 12 one-hour virtual general pathology lectures and develop continuing outreach. A survey of 16 questions including 12 multiple choice questions and four short answer questions was used to assess each component and the overall satisfaction of the outreach.

Results (if a Case Study enter NA)
Eight brains were examined at four neuroautopsy conferences and ten case consultations were performed upon request. Survey results showed no statistical differences amongst the 20 sessions. Comments were positive and included one respondent planning to redesign their PhD research to focus on neurodegenerative disease in Ghana and several others commenting on the utility of molecular updates. Suggestions for improvement included quizzes, including more morphology and IHC in lectures, sending digital slides before future visits, teaching spinal cord removal, and the need for continuing outreach in neuropathology, dermatopathology, cytopathology and gynecologic pathology.

Conclusion
This experience provides a useful and well-appreciated approach to delivering international neuropathology outreach. Opportunities in neuropathology on an international level range from educational to clinical practice and research.
Telepathology: A Transforming Practice for the Efficient, Safe, and Best Patient Care at the Regional Veteran Affairs Medical Center
Authors: Petersen J M , Jhala D 
Published: November 2022

Abstract

Introduction/Objective
Telepathology is the practice of remote pathology using telecommunication links to enable transmission of digital pathology images for primary diagnosis, quality assurance, education, research, or second opinion diagnoses. Once properly validated and implemented, telepathology has great potential to transform the practice of pathology by increasing productivity, savings in costs, improving the quality of care, and participating in innovations to improve future care. These improvements would help ensure equity throughout all remote sites that may be served by the central regional Veteran Affairs Medical Center (VAMC), even with the long-term declining number of pathologists in the country. The validation and implementation of telepathology has been further refined by recent College of American Pathologist (CAP) and American Telemedicine Association (ATA) clinical guidelines and recommendations for the validation and implementation of telepathology, but otherwise the literature is sparse for recent telepathology validation and implementation after the promulgation of these guidelines and recommendations in the Veteran Affairs setting.

Methods/Case Report
An initial narrative literature review was conducted to ascertain the current clinical guidelines and practices of telepathology to ensure that practices during validation and implementation meet and exceed the standard of care. Furthermore, meetings including the appropriate stakeholders in information technology, privacy, facilities, and pathology were held. The telepathology platform from Leica Biosystems Aperio (Deer Park IL) was brought in house at the regional VAMC’s pathology department for validation and future implementation.

Results (if a Case Study enter NA)
Planning included following all appropriate guidelines from ATA and CAP regarding telepathology to ensure that the program met the standard of care. The arrival of the instrument was installed successfully within the pathology.

Conclusion
The installation of telepathology for use at a regional VAMC represents an important step to transform pathology to increase access, including even remote access, to pathology resources and subspecialty expertise throughout the Veteran Affairs Medical System.
Mutations in Clonal Hematopoiesis-Related Genes in Acute Myeloid Leukemia: An Observational Study
Authors: Elhodaky M , Gao J 
Published: November 2022

Abstract

Introduction/Objective
Genes commonly mutated in clonal Hematopoiesis (CH) are found in a subset of acute myeloid leukemia (AML) patients. Although these mutations can occur early in AML evolution, they are not alone sufficient to cause AML, and their role in disease development is still poorly understood.

Methods/Case Report
We searched all AML cases with mutations in three major CH genes (DNMT3A, TET2, ASXL1). Only mutations of known or possible clinical significance were included. We evaluated the pathologic diagnosis, cytogenetics, molecular profiling, and follow-up information.

Results (if a Case Study enter NA)
Eighty-one cases were identified (59 males and 22 females, age 33-89, median 67). Blasts often show monocytic differentiation, seen frequently in AML with mutated NPM1 and AML NOS, with less frequency in t-AML (25%). Among 72 patients with available cytogenetic data, 50% had normal karyotype. MDS- related cytogenetic abnormalities were common and included complex karyotype, del(5q), del(7q), +8, and +20.
Mutations in CH genes were almost always accompanied by other driver mutations (90%), most frequently NPM1, followed by mutations in cell signaling genes (FLT3, RUNX1, KRAS, CBL, NF1, NRAS), spliceosome (SRSF2, U2AF1, ZRZF2), IDH1/2, cohesin complex-related genes (STAG1, STAG2, SMC3, SMC1A, RAD21), BCOR, TP53, WT1, PHF6, or SH2B3. Mutations in CH genes can persist after the patients achieved morphologic remission, and were often associated with disappearance of the accompanying mutations (68%). The VAF of the mutated CH-related genes, during remission, significantly decreased (p=0.00075), indicating decreasing clone size with AML treatment. In 4 of the 5 cases with relapsed disease, additional mutations in CEBPA, KRAS, RUNX1, IDH2, FLT3 ITD, and PHF6 were acquired

Conclusion
Mutations in CH-related genes are present in different types of AML, but most frequently in AML with mutated NPM1, AML-MRC and AML with monocytic differentiation. They alone are not sufficient to cause AML, and can shrink during remission. Relapse is often accompanied by acquisition of additional mutations.
Extranodal Marginal Zone Lymphoma of the Thyroid with Extensive Amyloid Deposition: A Rare Case Presentation
Authors: El-Dana F , Eltahir M , Siatecka H , Cox B , Perez M 
Published: November 2022

Abstract

Introduction/Objective
Extranodal marginal zone lymphoma (MZL) is a rare indolent tumor with the potential of recurrence and systemic spread. Thyroid involvement is infrequently reported, and generally seen in the context of Hashimoto thyroiditis. Additionally, amyloid deposition is an exceptional complication of extranodal MZL. We report an unusual case of a 65-year-old woman with a rapidly growing symptomatic nodule of the right thyroid lobe and a previous inconclusive FNA showing benign lymphoid tissue. She was taken to the OR for diagnostic right thyroid lobectomy with neck level 6 dissection.

Methods/Case Report
The specimen was sent for histologic evaluation, and showed thyroid with marked amyloid deposition, highlighted by Congo Red special stain, distorting normal architecture. Additionally, significant small atypical lymphoid infiltrate was present. Neoplastic lymphocytes were positive for CD20, PAX5 and CD43. Kappa light chain restriction by kappa ISH stain indicated monoclonality. Conversely, CD138, CD10, BCL6 and CyclinD were negative. Ki-67 demonstrated a 15-20% proliferation index. The germinal centers of the secondary follicles demonstrated diminished CD10 and BCL-6 consistent with follicular colonization by neoplastic lymphocytes. One of the regional lymph nodes displayed involvement by lymphoma with amyloid deposition. Medullary carcinoma of the thyroid was ruled out on the basis of incompatible histologic and immunohistochemical profile.

Results (if a Case Study enter NA)
NA

Conclusion
While Medullary carcinoma and amyloid goiter are among the top differentials for extensive amyloid deposition in the thyroid gland, we illustrate the need for judicious review of clinical history and careful consideration of immunohistochemistry workup to establish the unusual diagnosis of extranodal MZL of the thyroid with extensive amyloid deposition.
Myelodysplastic Syndrome with Monosomy 7 in a Patient with Ataxia-Pancytopenia Syndrome
Authors: Wildes T J , Rentas S , Carlsen E , Dennison J , Dixon A 
Published: November 2022

Abstract

Introduction/Objective
Ataxia-pancytopenia syndrome is caused by mutations in SAMD9L, a tumor suppressor gene on chromosome 7 with roles in normal hematopoiesis and cerebellar development. Syndrome manifestations consist of a combination of progressive ataxia, multilineage cytopenias, and increased risk of myeloid neoplasms associated with monosomy 7. Histopathologic and radiologic descriptions of this recently described disorder are scarce and treatment strategies are not standardized. Additionally, features that predict spontaneous hematologic remission of myeloid neoplasms are incompletely understood. Therefore, detailed discussions of this disorder and its possible outcomes are warranted.

Methods/Case Report
A six-year-old boy was brought to his doctor when his parents noticed head tilting while reading and impaired coordination. Brain MRI revealed extensive T2/FLAIR hyperintensities of white matter, cerebellar hypoplasia, and a thinned corpus callosum. Further evaluation excluded autoimmune etiologies, infectious diseases, and inherited leukodystrophies. Whole exome sequencing demonstrated a previously uncharacterized heterozygous mutation in SAMD9L, c.2062T&gt;A; p.Tyr688Asn. Subsequent testing revealed pancytopenia. A bone marrow biopsy showed small megakaryocytes with abnormal nuclear lobation and erythroid progenitors with nuclear blebbing and binucleation. Blasts were borderline increased (4%). Fluorescence in-situ hybridization and karyotype showed monosomy 7. A myeloid next-generation sequencing panel identified an ETV6 mutation (p.Gln143Ter, VAF=5.4%). A diagnosis of myelodysplastic syndrome with monosomy 7 in the setting of ataxia-pancytopenia syndrome was rendered. The patient underwent allogeneic stem cell transplant and is doing well at last follow-up.

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

Conclusion
Ataxia pancytopenia syndrome is a recently described and incompletely understood disorder. Some myeloid neoplasms in ataxia-pancytopenia syndrome can undergo somatic revertant mosaicism via uniparental disomy, resulting in spontaneous hematologic remission. Factors that predict spontaneous remission are unclear; however, secondary mutations have been associated with poorer outcomes. This case emphasizes the value of comprehensive genetic testing modalities in challenging cases. Screening for SAMD9L mutations in cases of pediatric myelodysplastic syndrome could be considered.