bluuebunny/crossref_metadata_2025_split huggingface dataset:
Intravascular Nodular Fasciitis Mimicking Thrombotic Complications in a 16-year-old male with May-Thurner Syndrome
Authors: Ak S , Abu Qubo A , Ibrahim N , TAKEI H , Thomas-Ogunniyi J O 
Published: October 2024

Abstract

Introduction/Objective
Nodular fasciitis is a rare benign myofibroblastic proliferation commonly mistaken for malignant tumors due to its rapid growth and clinical presentation. May-Thurner Syndrome (MTS), characterized by compression of the left common iliac vein by the right common iliac artery, predisposes individuals to deep vein thrombosis (DVT). However, here we present a unique case of intravascular nodular fasciitis presenting as thrombotic complications in the context of MTS in a 16-year-old male.

Methods/Case Report
A 16-year-old male presented with progressive left hip and leg pain accompanied by recent swelling. Ultrasound revealed occlusive thrombi within the left side external iliac, common superficial femoral, and great saphenous veins, along with nonocclusive thrombi in left deep femoral vein. Magnetic resonance venography confirmed MTS and extensive thrombosis. Thrombectomy was done with fragments sent to pathology. Microscopic examination showed cellular areas with loose myxoid composition, proliferating spindle, myofibroblastic/fibroblastic, and stellate cells arranged in irregular bundles. Additional microscopic findings included mild cellular atypia, mitoses, focal macrophage aggregates, occasional multinucleate forms, foci of hemorrhage, fibrin exudate, ingrowing fibroblasts, and increased vascularization. Immunohistochemical stains demonstrated positivity for SMA, CD31, ERG, and CD34, highlighting prominent vascularization, while desmin, myogenin, myoglobin, STAT6, beta-catenin, S100, and AE1/AE3 were negative. Differential diagnosis included intravascular fasciitis, and possibly organizing thrombus with myxoid stroma. USP6 gene rearrangement (FISH) study was positive, confirming the diagnosis of nodular fasciitis.

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

Conclusion
This case emphasizes the significance of maintaining a broad differential diagnosis when assessing specimens sent as thrombectomies. Recognizing intravascular nodular fasciitis as a potential presentation mimicking thrombosis is essential for accurate diagnosis and management.
Superficial angiomyxoma-like myxofibrosarcoma
Authors: Abdo M E , AL-Kharouf I , Elsafy H , Hamza A , Meyer A R 
Published: October 2024

Abstract

Introduction/Objective
Myxofibrosarcoma comprises a spectrum of malignant fibroblastic neoplasms with variably myxoid stroma, pleomorphism, and a distinctive curvilinear vascular pattern. Herein we describe a case of myxofibrosarcoma with unusual histological features that could be deceptive, mimic superficial angiomyxoma and make the diagnosis challenging

Methods/Case Report
A 74-year-old female presented with a right upper arm lesion that had been present for 10-12 months and had significantly increased in size over this time and became painful. There was no history of trauma.
Examination demonstrated approximately 3 cm multinodular mass along the anterior aspect of the proximal arm. There were no overlying skin discolorations or ecchymosis. The patient underwent a shave biopsy and then resection. Grossly, the lesion was gray-white firm with an ill-defined border covered with a tan-white skin ellipse. Histologically, the lesion was located in the dermis extending to the dermal-epidermal junction. The lesion comprised mainly of myxoid stroma, arborizing, and plexiform thin-walled blood vessels, stellate to spindled cells with enlarged hyperchromatic nuclei, and eosinophilic cytoplasm in addition to the presence of stromal neutrophils and hyperplastic overlying squamous epithelium. The morphologic appearance elicited the differential diagnosis of superficial angiomyxoma and low-grade myxofibrosarcoma. While many features were more suggestive of superficial angiomyxoma, the degree of atypia and mitotic activity (12/10 HPF) was outside the realm of angiomyxoma and warranted the diagnosis of myxofibrosarcoma

Results (if a Case Study enter NA)
NA

Conclusion
Although rare, myxofibrosarcoma may rarely extend to the dermal-epidermal junction and mimic superficial angiomyxoma. The presence of cytologic atypia and increased mitotic activity favors myxofibrosarcoma
Rare Presentation of Extraskeletal Osteosarcoma Mimicking Phyllodes Tumor
Authors: Ndam F , Alrammahi A , Snower D 
Published: October 2024

Abstract

Introduction/Objective
A 57-year-old female presented with a palpable mass in the left breast, measuring up to 9 cm by ultrasound. core needle biopsy identified an atypical spindle cell lesion. The differential diagnosis included a metaplastic carcinoma, borderline phyllodes tumor, malignant phyllodes tumor with potential sarcomatous transformation.

Methods/Case Report
Histological examination of the tumor was performed, and immunohistochemical stains were conducted to characterize the lesion. Further consultation with a specialized pathologist at the University of Michigan was sought to confirm the diagnosis. Molecular analysis was performed to assess for specific genetic alterations and expression patterns.
The histological examination revealed a proliferation of atypical spindle cells forming a fascicular and storiform pattern, with numerous large, pleomorphic, multinucleated tumor cells and a high mitotic rate. Immunohistochemical stains showed strong positivity for CD10 and vimentin, with focal weak expression for desmin, and negativity for a broad panel of cytokeratins and other markers. Consultation with Dr. Abbott at the University of Michigan supported the diagnosis of extraskeletal osteosarcoma. Molecular analysis revealed PD-L1 expression and absence of NTRK gene fusions. FISH analysis showed suggestive alterations including loss of BRAF gene, loss of MYC, and suggestive gains or polysomy of PTEN gene.

Results (if a Case Study enter NA)
NA

Conclusion
The case represents a rare presentation of extraskeletal osteosarcoma in the breast, with distinctive histological and immunohistochemical features. The comprehensive workup including histology, immunohistochemistry, and molecular analysis aids in accurate diagnosis and potential therapeutic implications. Further research may elucidate the underlying mechanisms and treatment options for this uncommon malignancy.
A Case for Co-oximetry: Methemoglobinemia secondary to a Rare Hemoglobin Variant
Authors: Olaniyan H S , Zimmerman M 
Published: October 2024

Abstract

Introduction/Objective
The presence of dyshemoglobins and some inherited hemoglobin (Hb) variants can cause over or underestimation of oxygen saturation (O2sat) when using a pulse oximeter (ox). These noninvasive medical devices rely on two wavelengths, a pulsing arterial bed, and light absorption properties of Hb to measure the difference between deoxy- and oxy-Hb. In contrast, a co-oximeter (co-ox) requires arterial blood. By using at least four wavelengths, co-ox measures the functional and fractional O2sat to detect all forms of Hb, including those that do not bind oxygen (O2), such as methemoglobin (metHb). Methemoglobinemia may be congenital or acquired, resulting from exposure to certain toxins, metabolic disorders, enzymatic deficiencies such as cytochrome b5 reductase deficiency, or hemoglobinopathies.

Methods/Case Report
A healthy, adolescent male undergoing a sports physical at his pediatrician’s office was hypoxic by pulse ox and sent to the emergency department (ED) for evaluation. On exam, he had cold, blue tinged fingertips and lips but was otherwise asymptomatic. His O2sat was 88-90% on room air with minimal improvement with 6L of supplemental O2. Co-ox revealed a metHb level &gt; 20%. The father also mentioned that the mother had frequent ED visits for hypoxia.
Capillary Hb electrophoresis showed peaks in the HbA, HbF, and HbA2 zones of 78.3%, 17.9%, and 3.6%, respectively. All CBC parameters were within the reference intervals. The large peak in the HbF zone would suggest hereditary persistence of fetal hemoglobin (HPFH); however, the clinical picture was not consistent. Further reference laboratory investigation determined that the patient was heterozygous for Hb Tübingen (HbTüb), a beta globin chain variant resulting from a point mutation at position 106. By mass spectrometry, the variant quantified as 38% of the total hemoglobin, indicating underestimation by electrophoretic techniques.

Results (if a Case Study enter NA)
NA

Conclusion
This case presents an essentially asymptomatic patient with hypoxia and elevated methemoglobin levels. Electrophoretic hemoglobinopathy and CBC workup were clinically inconsistent with HPFH and the presence of an aberrant hemoglobin migrating in the HbF must be considered in the differential diagnosis. The manifestation of HbTüb as methemoglobinemia in this context adds complexity to the diagnostic puzzle. Further laboratory exploration into the underlying mechanisms driving this unique presentation is crucial for a comprehensive understanding and tailored management approach.
Preparation and Characterization of Berberine-Loaded Bovine Serum Albumin Nanoparticles: Encapsulation Efficiency and Release Rate Determination
Authors: Abdelmonem M , Hemdan A , Ghareeb D , El demellawy M , El sayed M , Abdelmageed M , Wasim H 
Published: October 2024

Abstract

Introduction/Objective
Introduction: Berberine (BER) has garnered attention in various studies for its diverse biochemical and pharmacological properties, including anti-inflammatory, antioxidant, antidepressant, anticancer, antihyperglycemic, hypolipidemic, antihypertensive, and hepatoprotective effects. Nanoparticles serve as efficient carriers for drugs, offering increased surface area and enhanced dissolution in the bloodstream, thereby improving drug delivery.

Methods/Case Report
Methods: Blank Bovine Serum Albumin Nanoparticles (BSA NPs) were synthesized using a desolvation process, followed by the fabrication of Berberine-loaded Bovine Serum Albumin Nanoparticles (BER-NP). Physicochemical characterization, including particle size and zeta potential, was conducted using a Malvern Zetasizer and dynamic light scattering (DLS). Transmission electron microscopy (TEM) was employed to visualize the morphology of both blank BSA NPs and BER-loaded nanocarriers.

Results (if a Case Study enter NA)
Results: Fourier-transform infrared (FTIR) spectra and Differential Scanning Calorimetry (DSC) thermograms were obtained for free berberine, BSA NPs, and BER-NPs. Encapsulation efficiency (EE) was determined by measuring the concentration of free BER in the supernatant after centrifugation, with EE calculated based on the difference between total added berberine and the measured supernatant concentration.
Dialysis membranes were utilized to assess BER release from BER-NPs in vitro, with initial BER content in nanoparticles determining the release profile.

Conclusion
Conclusion: The prepared nanoparticles have demonstrated the potential to enhance drug permeation across epithelial and endothelial barriers. This approach holds promise for targeted drug delivery to specific sites, facilitating combined therapy with distinct modalities or drugs.
Metastatic Carcinosarcoma with a Sarcomatous Predominance?
Authors: Abraham H , Bassham C , Chinchanikar S , Omoscharka E 
Published: October 2024

Abstract

Introduction/Objective
Uterine carcinosarcoma (CS), also known as Malignant Mixed Müllerian Tumor, is a malignancy characterized by mixed epithelial and mesenchymal components. It is rare and aggressive, most frequently occurring in elderly, postmenopausal women with a median age of 65 years. CS has a tendency to metastasize with an overall poor prognosis. Fine needle aspiration can be useful in identifying metastatic disease, however, demonstration of both sarcomatous and carcinomatous components can be difficult.

Methods/Case Report
Our patient is a 68 year old female who was first diagnosed with endometrial carcinosarcoma on an endometrial biopsy in 2022. She subsequently underwent a total abdominal hysterectomy with radical dissection, bilateral salpingo-oophorectomy, upper vaginectomy, sentinel lymph node dissection as well as chemotherapy. Immunohistochemistry for MLH1, MSH2, MSH6 and PMS2 all showed intact nuclear expression.
Remission was achieved for about a year, after which she was found to have a moderate right sided pleural effusion with right lower lung infiltrates. Also, a right upper lobe mass was reported on chest CT scan. Paracentesis was performed and cytology was consistent with predominantly atypical spindle cells accompanied by a mixed inflammatory infiltrate. Immunohistochemical stains were performed on the cell block, tumor cells were positive for smooth muscle actin, vimentin and negative for desmin, S-100, SOX-10, CD34, P63, TTF-1 and pancytokeratin.
Cytology diagnosis was rendered as malignant cells present, consistent with metastatic CS. A subsequent lung mass core biopsy also confirmed the diagnosis.

Results (if a Case Study enter NA)
NA

Conclusion
The cytomorphological features in effusion samples from metastatic CS have the carcinomatous component readily identifiable, and only a minority of effusion samples show additional sarcomatous component. The exact diagnosis of CS may not be possible due to the absence of sarcomatous components. Alternatively, as we present in this rare case of metastatic CS, the sarcomatous component in the form of abundant atypical oval to spindle cells with hyperchromatic nuclei may be the only form of malignant cells present in the specimen. Careful morphological assessment of architectural patterns, a good past medical history, availability of cell blocks and immunohistochemistry are vital in providing an accurate diagnosis in such rare cases of metastatic CS.
RETROSPECTIVE ANALYSIS OF DISCORDANT RESULTS BETWEEN UROVYSION FISH AND URINE CYTOLOGY IN THE DETECTION OF HIGH-GRADE UROTHELIAL CARCINOMA (HGUC): A STUDY OF 118 PATIENTS
Authors: Ur Rehman A , Liu J , Elsayad M 
Published: October 2024

Abstract

Introduction/Objective
Accurate detection of high-grade urothelial carcinoma (HGUC) relies on multiple diagnostic modalities, including UroVysion FISH and urine cytology; however, discordant results between these diagnostic tools can present a challenge. We present this study, scrutinizing the discordant results between UroVysion FISH and urine cytology to explore the potential factors that could contribute to discrepancies.

Methods/Case Report
A cohort of 118 patients, who underwent both UroVysion FISH and urine cytology testing for evaluation of HGUC, was selected from our cytopathology archives. Results of both the modalities were compared, and a retrospective review of original slides was done by experienced cytopathologists.

Results (if a Case Study enter NA)
Among the 118 cases, Urovysion FISH yielded positive results in 14 cases and negative in 104. In contrast, urine cytology reported 1 case as positive, 102 as negative, 10 as atypical (8 atypical and 2 rare atypical), and 5 as suspicious. Discordant findings were observed in 20 cases, accounting for 17% of the cases. After retrospective review of original slides, few cases were reclassified. 2 cases as atypical (initially labeled as negative), 2 cases as negative (initially labeled as atypical), 3 cases as positive (initially labeled as atypical/suspicious), 3 cases as suspicious (initially labeled as negative/atypical).

Conclusion
This reclassification highlights complexity of cytological interpretation, including the challenges of distinguishing between benign cellular alterations, reactive changes, ambiguous findings, suspicious features and malignant cytological changes. Integrating molecular and morphological assessment is essential for evaluation of urothelial carcinoma. Discrepancy between the two is an area which is open to study and can be related to differences in sensitivity and specificity of the testing modalities, sampling methods, variation in interpretation, limitations of testing modality and varying tumor characteristics. Review of clinical history, imaging studies, cystoscopy, and repeat testing may be considered in such cases for diagnostic accuracy.
An Unusual Skin Finding in a Rare Case of Goltz Syndrome
Authors: Irfan A , Gener M 
Published: October 2024

Abstract

Introduction/Objective
Goltz Syndrome (Focal Dermal Hypoplasia) is a rare X linked dominant genetic disorder with various dermatologic, musculoskeletal and neurologic manifestations, secondary to a mutation in the PORCN gene. Skin findings include telangiectasias, raspberry-like papillomas (angiofibroma like lesions), nodular fat herniation, xerosis and photosensitivity. Lesions are bilateral, and asymmetrically distribututed along the lines of Blasco. The adipocytic lesions can be diagnosed via a skin biopsy showing adipose tissue in the superficial epidermis and dermis or via molecular techniques showing a mutation in the PORCN gene. Here we report a case of Goltz Syndrome with unique dermal findings.

Methods/Case Report
A male infant presented at birth with mild diffuse xerosis, large hypopigmented and depigmented atrophic patches and plaques and multiple pink yellow red exophyitic soft papules distributed asymetrically across the body along the lines of Blascho. Additionally the patient had clinodactly, widely spaced nipples, extra pads of fat in the toes and philtrum and fingernails with longitudal ridges and lateral nail plate deviation. A diagnosis of Goltz syndrome was made via molecular analysis that showed mosiacism at C.502G&gt;A (p.Gly168Arg) in the PORCN gene.
The patient had a very superficial 2-3 mm erosion at the intersection between the scrotum and perineum. At 18 months, this had grown to finger like projections and eventually grew into multiple tan red exophytic warty papillomatous telangactatic like lesions measuring 3.0 x 0.8 cm that were painful and bled easily. A biopsy of this lesion showed focal mild epidermal hyperplasia and elongation of the rete ridges with wide spread diffuse vascular proliferation with multiple ectactic vessels along with mild dermal and perivascular inflammatory infiltrates. Also noted was infiltration of mature adipose tissue in the superficial epidermis and dermis. We preformed elastin and trichrome stains to identify if this lesion was reactive in nature or de novo. Our results showed retained elastin staining with a negative trichrome eluding to a denovo process. Additionally GLUT1 was negative, ruling out an infantile hemangioma. The above findings in this lesion do not represent any previously described dermatologic entity.

Results (if a Case Study enter NA)
NA

Conclusion
This is a rare and unique dermatologic finding of a case of Goltz sydrome, which itself is a rare disorder. In our literature review, this is the only case of Goltz Syndrome thusfar to have presented with this unique skin lesion.
Squamoid eccrine ductal carcinoma of the vulva: A case report
Authors: Gandhi S , Fraga G , Lankachandra K 
Published: October 2024

Abstract

Introduction/Objective
A 53-year-old female sought medical attention for left vulvar pain and a vulvar lesion.

Methods/Case Report
Physical examination revealed a 1.0 x 1.0 cm lesion within a background of lichen sclerosus. Biopsy demonstrated a carcinoma with tubular and glandular architecture, areas of squamoid differentiation and widespread perineural invasion. Ancillary immunohistochemistry testing with keratin 7 highlighted foci of ductal differentiation. Tumor cells were also positive for p53, p63, pankeratin, and keratin 5/6. The Ki-67 proliferation index was approximately 15%. Tumor cells were negative for Keratin 20, PAX 8, p16, and CD 34. We diagnosed the lesion as a vulvar sweat gland adenocarcinoma of the squamoid eccrine ductal subtype.

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

Conclusion
Carcinomas of vulvar sweat gland origin are extremely rare, comprising less than 1% of all vulvar cancers. To the best of our knowledge, this is the first case report of squamoid eccrine ductal carcinoma afflicting the vulva.
Ethnic Access to and Usage of Microsatellite Instability/Mismatch Repair Testing on Colon Cancers at a Regional Veteran Affairs Medical Center
Authors: Petersen J M , Jhala D 
Published: October 2024

Abstract

Introduction/Objective
It has been a National Comprehensive Cancer Network (NCCN) recommendation since 2015 that all colon carcinoma cases should receive mismatch repair and microsatellite instability (MSI/MMR) testing.
However, literature on MSI/MMR testing compliance with this recommendation particularly for ethnic minorities and veterans, are sparse in the literature.

Methods/Case Report
A retrospective review of all invasive colon carcinoma cases from colon or rectum specimens was performed from 2017 to March 8th, 2024, at a regional Veteran Affairs Medical Center (VAMC) as part quality assurance (QA) to collect test performance and demographic information. There had been clinical team/pathologist regular education about the NCCN guidelines.

Results (if a Case Study enter NA)
There were 210 cases from which 183 out of 219 cases (84%) included MSI/MMR testing. From the total population of 210, 92 (43.8%) were African American, 107 were Caucasian American (51.0%) and others were 11 (5.2%). Among the 183 with MSI/MMR testing, 79 (43.2%) were African American, 94 were Caucasian American (51.4%), with the remainder being 10 (5.5%).
Testing rate for MSI/MMR over the years increased from 2021 onwards: 40 out of 43 cases in 2017 (93%), 22 out of 27 in 2018 (81%), 27 out of 33 in 2019 (81%), 24 out of 27 in 2020 (88%), 25 out of 34 in 2021 (74%), 21 out of 21 out of in 2022 (100%), and 24 out of 25 in 2023 to 2024 (96% with 1 patient expiring before testing could be sent).

Conclusion
From 2022 onwards, all patients received MSI/MMR testing if not expired, which is a substantial improvement demonstrating the impact of education and awareness of the current NCCN guidelines along with its impact on patient management. Furthermore, the VAMC provided equal access to MSI/MMR testing to all ethnic groups, thus serving as a paradigm for health equity for colon cancer testing.