bluuebunny/crossref_metadata_2025_split huggingface dataset:
Unveiling the Unusual: Mediastinal Rhabdomyosarcoma in an Adult Patient
Authors: almukhtar R , Aldahan M , Lonardo S 
Published: October 2024

Abstract

Introduction/Objective
We present a case of a 55-year-old female with a history of hypertension, diabetes, hyperlipidemia, chronic kidney disease (CKD), and asthma, who presented with a mediastinal mass.

Methods/Case Report
A needle core biopsy of the mediastinal mass was performed. Microscopic examination showed a proliferation of primitive appearing, moderately pleomorphic cells with features suggestive of rare strap cells of rhabdomyosarcoma. Immunohistochemical staining was positive for desmin and myogenin, consistent with rhabdomyosarcoma. Further cytogenetic analysis for FOXO1 translocation, was performed.

Results (if a Case Study enter NA)
Cytogenetic analysis was negative for FOXO1 translocation by FISH, ruling out alveolar rhabdomyosarcoma. Despite negative cytogenetic findings, the morphology and immunoprofile were consistent with rhabdomyosarcoma. However, the possibility of rhabdomyosarcoma occurring within a mediastinal teratoma, germ cell tumor, or carcinosarcoma was noted.

Conclusion
This case highlights the challenge of diagnosing rhabdomyosarcoma in adults, especially when presenting as a mediastinal mass. The histologic and immunophenotype supported the diagnosis of rhabdomyosarcoma. However understanding the primary of the lesion in the hilum is more diffecult. physical examination releave no lesion on the extremities. CT scan of the abdomen and pelvis reveals no other lesion. making the metastasis unlikely.This case underscores the importance of thorough diagnostic evaluation, including histopathology and immunohistochemistry, in the assessment of unusual neoplasms, which can impact treatment decisions and prognosis. Further studies are warranted to elucidate the molecular mechanisms underlying rhabdomyosarcoma in adults and its association with other mediastinal tumors. This case report contributes to the evolving understanding of rare malignancies and their implications for pathology and laboratory medicine practice.
PLASMA CELL NEOPLASM IN BREAST: A RARE CASE REPORT
Authors: Tripathi M , Shen P 
Published: October 2024

Abstract

Introduction/Objective
Breast carcinoma continues to be the most common malignancy in women however plasma cell neoplasms are rare in breast tissue. Most of these recorded cases are from patients with Multiple myeloma (1). We present a rare case of a new breast lesion in a 69 year female incidentally found on imaging. She had a history of adenocarcinoma of lung with brain metastasis undergoing treatment.

Methods/Case Report
The patient’s breast lesion presentation was unusual without any pain or associated symptoms, but a new right breast mass was incidentally discovered on CT-Chest Abdomen-Pelvis. Mammogram revealed a 1.4 cm circumscribed mass in lower, outer breast with scattered calcifications. With the suspicion for a primary breast malignancy or metastatic disease from her lung cancer the patient’s breast lesion was biopsied.
On histology, abnormal proliferation of cells with ovoid nuclei, vesicular chromatin and variable cytoplasm was noted with a background of mature adipose tissue.
Immunohistochemistry showed neoplastic cells positive for plasma cell associated markers including CD38 (patchy), CD56, CD138, and MUM1 with a kappa restriction on ISH. The Ki67 showed 20% proliferation index.
EBER was negative and SMARC4 and INI were preserved.
Other immunohistochemical stains were performed to rule out differentials and were all negative.
The morphology and IHCs were consistent with the diagnosis of Plasma cell neoplasm with kappa-restriction. Subsequently this patient developed a shoulder lesion which on biopsy showed a plasma cell neoplasm expressing plasma cell markers and kappa light chain overexpression.

Results (if a Case Study enter NA)
NA

Conclusion
It is critical to distinguish a breast plasma cell neoplasm from other primary and metastatic breast lesions in order to avoid unnecessary surgery and cytotoxic chemotherapy. Rarely, plasma cell neoplasm can manifests as a breast lesion, which in this case turned out to be the early manifestation of multiple myeloma.
MALIGNANT PHYLLODES TUMORS – A SINGLE HOSPITAL ANALYSIS
Authors: Taha H , Shitawi M , Abdelhammed M , McGowan L A , Dhamne S , Zhang S , Wang J 
Published: October 2024

Abstract

Introduction/Objective
Phyllodes tumor (PT), a rare fibroepithelial breast lesion, affects around 1% of breast tumors, primarily in women aged 40–50 years old. The interpretive subjectivity, histological overlap, and limited molecular predictors, necessitate further investigation into their pathogenesis. Prognosis relies on WHO grading based on stromal proliferation. Malignant-PTs are rare and challenging to diagnose, posing a diagnostic challenge with breast sarcomas and metaplastic carcinomas. The study aims to highlight morphological features of malignant-PTs and their correlation on patients’ survival and prognosis.

Methods/Case Report
Retrospective single-institute study of 33 women who were diagnosed with malignant-PT according to WHO criteria and underwent excision were identified from database spanning 2005-2024. Clinical and pathologic characteristics including biopsy results, histological features, imaging findings, and survival outcomes were analyzed statistically using Kaplan-Meier method.

Results (if a Case Study enter NA)
Patients aged 28-72 years underwent excision, with a mean of 50 years and tumor sizes ranging 1.1-34 cm with a mean of 11.5 cm. The majority (19 cases) were classified as pT stage I or II, with 14 cases at more advanced stages. Malignant heterologous elements were found in 10 cases (30%). Positive margins were noted in 12 excisions (36%). Besides tumor recurrence in 3 cases (9%) within 33 months post-excision, metastasis was observed in 8 cases, occurring between 4-60 months post-excision. Six patients died from metastasis within 11-62 months post-diagnosis.

Conclusion
The presence of negative margins and appropriate treatment was associated with a lower risk of recurrence and metastasis. However, they were not linked to enhance survival rates. Survival was primarily correlated to the absence of heterologous components and PT’s staging.
A Rare Case of Homozygous Hemoglobin G-Philadelphia & Alpha Thalassemia
Authors: Olaniyan H S , Ashraf N , Konger R L 
Published: October 2024

Abstract

Introduction/Objective
Hemoglobin (Hb) G-Philadelphia (GPh) is an alpha chain gene variant caused by a missense mutation resulting in a change from Glu to Asp at position 68. This change leads to alterations in the Hb structure and oxygen affinity. The mutation is inherited in an autosomal codominant pattern allowing for an asymptomatic carrier state. While the most common alpha chain variant, GPh heterozygosity is still infrequent, estimated at 1:5000 in African Americans. In African Americans, GPh is frequently linked to an alpha thalassemia deletion. On its own it is considered a benign variant that does not result in significant health issues. Homozygous HbGPh frequency is estimated at 1 in 25 million.

Methods/Case Report
A postpartum woman in her 4th decade of life was found to have a Hb of 10.8 and a mean corpuscular volume of 74. Initial work up included Hb electrophoresis that quantified HbA at 0%, Hb F at 0%, HbA2 at 0%, and 2 Hb variants representing 96.1% and 3.8% of the total globin. The major Hb variant migrated in the D or G position by alkaline and acid gel Hb electrophoresis. The minor variant was consistent with HbG2. Due to this abnormal Hb electrophoresis, a sample was sent out for a Hb evaluation reflexive cascade (HERC). HERC analysis by high-performance liquid chromatography and capillary gel electrophoresis found 99.9% of Hb consistent with the alpha chain variant HbG. Analysis of the alpha globin gene region revealed 2 copies of an alpha globin gene deletion that was interpreted as alpha-thal trait (-a/-a). This result is consistent with homozygous alpha-thal-2 and homozygous HbGPh (alpha^G/thal + alpha^G/thal).

Results (if a Case Study enter NA)
NA

Conclusion
Alpha^G/thal + alpha^G/thal presents a unique and complex challenge for diagnosis due to its rarity and because HbG2 is not always visualized by alkaline gel electrophoresis. The presence of a Hb G or D variant, a HbG2 variant, and the lack of both HbA and HbA2 are key electrophoretic findings. Clinically, alpha^G/thal + alpha^G/thal behaves essentially like a homozygous alpha-thal-2 trait with persistent microcytosis and erythrocytosis. Thus, co- inheritance of the alpha-thal trait will be suggested by a thalassemic complete blood count pattern.
CLASSIFICATION OF COLORECTAL CANCER PATIENTS BASED ON SERUM MICRONUTRIENTS: AN EXPLORATORY INVESTIGATION
Authors: Rongioletti M , Di Veroli L , Mastromoro G , Krishnamurthy H , Bosco J , Jayaraman V , Krishna K , Pal A , De Luca A , Squitti R , Rizzo G , Tondolo V 
Published: October 2024

Abstract

Introduction/Objective
Colorectal cancer (CRC) is a growing global health challenge with a multifactorial etiology encompassing genetic susceptibility, nutrition, and inflammation in the bowel. To examine micronutrient status in CRC patients undergoing CRC resection.

Methods/Case Report
We performed a pilot case-control study including 13 consecutive CRC patients and 10 healthy controls (CTRL) comparing the serum levels of 29 micronutrients, namely Copper, Zinc, Selenium, Chromium, Manganese, Carnitine, Choline, Inositol, Methylmalonic acid (MMA), Vitamin (Vit) B1, Vit B2, Vit B3, Vit B5, Vit B6, Vit C, Vit A, Vit D3, Vit E, Vit K1, Vit K2 and the amino acids Serine, Valine, Leucine, Isoleucine, Asparagine, Glutamine, Arginine, Citrulline and Cysteine. The analysis of trace metals (copper, zinc, selenium, chromium, manganese) in serum was done using the Inductively coupled plasma mass spectrometry (ICP-MS) methodology using the Agilent 8900 QQQ instrument. The analysis of serum water-soluble and fat-soluble vitamins and amino acids was conducted using the LC/MS (Xevo-TQ-XS) mass spectrometer (WBA0127). Elution of the fat-soluble vitamins was performed using a solid-phase extraction system with an OASIS Prime HLB plate containing 10 mg of sorbent per well, in a Waters vacuum manifold equipped with a waste collection plate. Comparison among continuous biological variables was carried out by multivariate ANOVA model (MANOVA), accounting for the effect of sex and age

Results (if a Case Study enter NA)
After considering the effect of age and sex, copper, arginine, and cysteine were increased, while zinc, selenium, chromium, Vit B1, Vit K1, and Vit A were decreased in CRC patients in comparison with CTRL. Zinc levels perfectly predicted the diagnosis of CRC, and was associated with lymph nodes (pN), of the pTNM staging. Copper levels in serum was strongly associated with the pathological pTNM staging of CRC.

Conclusion
Though this is a preliminary study which needs confirmation with a larger longitudinal cohort, our results show that serum micronutrients are linked to tumor growth, likely caused by increased demand from tumor tissue associated with an aberrant cell proliferation and changes in the antioxidant function.
Berberine-Loaded Bovine Serum Albumin Nanoparticles: Fabrication, Characterization, and Drug Release Evaluation
Authors: Abdelmonem M , Hemdan A , Ghareeb D , El demellawy M , Abdelmageed M , Wasim H , El sayed M 
Published: October 2024

Abstract

Introduction/Objective
Introduction: Numerous studies have highlighted the diverse biochemical and pharmacological properties of berberine (BER), including its anti-inflammatory, antioxidant, anticancer, and hypolipidemic effects. Nanoparticles play a crucial role in enhancing drug delivery by providing a larger surface area, facilitating quicker dissolution in the bloodstream.

Methods/Case Report
Methods: Blank bovine serum albumin nanoparticles (BSA NPs) were prepared using a desolvation process, followed by the fabrication of berberine-loaded BSA nanoparticles (BER-NP). Physicochemical characterization, including particle size and zeta potential, was conducted using a Malvern Zetasizer. The mean particle size and distribution were determined using photon correlation spectroscopy (PCS), and transmission electron microscope (TEM) images were obtained for visualization. Fourier transform infrared (FTIR) spectra and differential scanning calorimetry (DSC) thermograms were recorded to assess drug encapsulation efficiency (EE). Berberine release from BER-NPs was evaluated using dialysis membranes.

Results (if a Case Study enter NA)
Results: FTIR spectra and DSC thermograms confirmed successful drug loading into the nanoparticles. Encapsulation efficiency was determined by UV absorption spectroscopy, revealing high efficiency in the encapsulation process. Dialysis membranes demonstrated controlled release kinetics of berberine from BER-NPs, indicating their potential for targeted drug delivery.

Conclusion
Conclusion: Berberine-loaded bovine serum albumin nanoparticles exhibit favorable characteristics for drug delivery applications, including enhanced permeation across biological barriers. These nanoparticles hold promise for targeted therapy and combination drug regimens, offering potential benefits for various medical interventions.
Diffuse meningeal melanocytosis – a silent culprit
Authors: Miller L J , Pang J C 
Published: October 2024

Abstract

Introduction/Objective
Diffuse meningeal melanocytosis is a rare melanocytic proliferation that poses significant risk of severe hydrocephalus and mortality among children and young adults. Although the clonal melanocytes do not typically exhibit malignant morphological features, their capability for extensive invasion and malignant-like behavior necessitates tissue biopsy alongside immunohistochemical and molecular testing for definitive diagnosis.

Methods/Case Report
A 17-year-old male presented with progressive headaches, photophobia, and nausea, initially attributed to migraines. Neuro-opthalmological assessment revealed papilledema, leading to a diagnosis of idiopathic intracranial hypertension. Serial imaging showed fluctuating leptomeningeal enhancement and moderate communicating hydrocephalus without parenchymal lesions. Therapeutic lumbar punctures provided modest symptom improvement; increased opening pressure was observed. Evaluation of seven CSF specimens showed low glucose levels, increased cellularity consisting of bland appearing epithelioid cells of unknown etiology, and increased lymphocytes. Infectious causes were excluded. Due to the indeterminate CSF findings, discussion between the cytopathologist and neuro-opthamologist was crucial to facilitate tissue biopsy to exclude a neoplastic process.
Subsequent shunt placement and cerebral cortex biopsy revealed neoplastic cells with sheet-like architecture coating the dura without overt brain invasion. The tumor cells had eosinophilic cytoplasm without pigment and enlarged nuclei with irregular contours, vesicular chromatin, and prominent nucleoli. No high-grade features were seen.
Immunohistochemical stains were positive for MART1, HMB45, and PRAME, consistent with a melanocytic lesion. FISH melanoma panel was negative. The final diagnosis was diffuse meningeal melanocytic neoplasm, most consistent with meningeal melanocytosis. The patient received chemotherapy with improved symptoms and stable disease.

Results (if a Case Study enter NA)
NA

Conclusion
Diffuse meningeal melanocytosis is a challenging cytologic diagnosis as melanocytes can morphologically mimic lymphocytes and monocytes, and the low cellularity of CSF specimens often results in insufficient cell blocks for ancillary tests. The direct communication of the pathologist with the clinical team to correlate pathology, radiology, and clinical symptoms was essential to ensure the proper management of this patient.
CK20-negative Merkel Cell Carcinoma with Concomitant Squamous Cell Carcinoma In-Situ and Metastasis to the Parotid Gland
Authors: Mortazie M 
Published: October 2024

Abstract

Introduction/Objective
This report presents a patient with an aggressive CK20-negative neuroendocrine tumor of the dermis with metastasis to the parotid gland and a concomitant squamous cell carcinoma in-situ (SCCIS) and highlights diagnostic challenges of CK20-negative tumors.

Methods/Case Report
A centennial female with a history of non-melanoma skin cancer and leukemia presented to the dermatology clinic with a one-year history of an enlarging skin lesion on her right cheek and a subcutaneous mass on the right central lateral neck. On examination, the lesion appeared as a rough and raised red papule with a central crust.
On CT, a large heterogeneously enhancing right parotid mass with surrounding satellite nodules, adjacent necrotic adenopathy, and an ulcerating subcutaneous mass in the adjacent right face. An incidental 3 mm right upper lobe nodule was identified.
The pathology report noted two distinct malignant neoplasms within the specimen. Microscopy revealed ulceration with acanthosis and full thickness keratinocyte atypia, suggesting Bowen’s disease. On microscopic examination of the separate dermal tumor, there were sheets of uniform small cells with a high nuclear to cytoplasmic ratio and scant cytoplasm.
IHC staining was positive for the neuroendocrine markers AE1/AE3, CAM5.2, synaptophysin, and CD56. CK20, CK7, and TTF-1 were negative. As some MCC may be negative for CK20, CK20 was performed twice. Differential diagnoses included SCCIS with CK20-negative MCC versus a metastatic neuroendocrine carcinoma of parotid gland to the skin. The patient transitioned to hospice care soon after the diagnosis.

Results (if a Case Study enter NA)
NA.

Conclusion
Our patient presents with an interesting case of a CK20-negative MCC with metastasis to the parotid gland. Since CK20 was stained negative twice, it complicated the diagnosis of MCC vs. small cell carcinoma. We suspected a more likely diagnosis of MCC metastasis to the parotid gland due to multiple reported cases (Day et al. 2016). Our patient also had an identifiable Bowen’s disease borderline to the neuroendocrine carcinoma. It is well known of the coexistence of MCC and squamous cell carcinoma in a cutaneous lesion (Suaiti et al. 2019). Thus, a metastatic MCC to the parotid gland is more likely in this case.
As MCC is an aggressive cancer that metastasizes quickly, accurate diagnosis is crucial. With recent literature reporting the association of CK20-negativity with VN-MCC, and the presence of UV signature mutations in CK20- negative MCC, genomic screening would be a useful diagnostic tool.
An idiosyncratic reaction to the synthetic biologic membrane on a surgical wound
Authors: Iqbal S , Raja F , Cai D 
Published: October 2024

Abstract

Introduction/Objective
Biodegradable temporizing matrix (BTM) is a synthetic polymer used to temporarily close wounds and aid the body in generating new tissue. BTM is applied to a debrided wound.BTM acts as a scaffold aiding the migration of granulation tissue into the matrix. Once the tissue is fully integrated throughout the BTM, the sealing membrane is removed. The matrix slowly deteriorates until fully absorbed at approximately 18 weeks.

Methods/Case Report
An 80-year-old woman with a past medical history of eczema, rheumatoid arthritis and gout presented with swelling of the left third metatarsal. Imaging showed an abscess which was eventually drained and cultured to show mycobacterium chelone. The patient was started on antibiotics for mycobacterium. On follow up she reported a nodule on left forearm recently increased in size. MRI on 9/28 showed abscess of the dorsal aspect of phalanx. She underwent surgical debridement 10/31 on her finger and the forearm nodule. After debridement a polynovo BTM graft was placed. Histopathology showed skin and subcutaneous tissue with necrotizing granulomas of the finger and the forearm. Cultures and stains for mycobacterium returned negative.The patient was subsequently followed up for wound healing. She reported nodules on the left forearm at the scar from previous surgical site which were biopsied. Histopathology showed granulomatous inflammation, rare foreign body giant cells, and birefringent material. The stains for Ziehl-Neelsen, Fite and Gomori’s Methenamine Silver for Urate Crystals were all negative excluding the possibility of gouty tophi or mycobacterium.

Results (if a Case Study enter NA)
NA

Conclusion
The complex history of the patient with mycobacterium, gout, the giant cell reaction and the unique appearing birefringent crystals presented a puzzling problem. Given the negative stain results for mycobacteria and the presence of birefringent (foreign) material, we deem these granulomas most likely an idiosyncratic reaction to the synthetic biologic membrane applied during her prior procedure. There are no known cases of giant cell reaction and similar morphology of birefringent (foreign) material in literature.
Molecular Scarring in Relapsing Psoriasis: Crosstalk of Keratinocytes and Immune Cells
Authors: Hatami P , Nicknam Asl H , Aryanian Z , Hatami D , Homayouni M , khayyat A 
Published: October 2024

Abstract

Introduction/Objective
Psoriasis is a chronic skin disorder with a tendency for relapse, characterized by immune- mediated mechanisms leading to papulosquamous lesions. Despite advances in treatment, many patients experience relapse, particularly in previously healed areas, referred to as “molecular scarring.” This scarring suggests a complex interaction between keratinocytes and immune cells, including tissue-resident memory T cells (TRMs), cytokines, and epigenetic modifications, contributing to the pattern-specific recurrence of psoriasis.

Methods/Case Report
After reviewing 31 articles on PubMed, we focused on the immunopathogenesis of psoriasis, examining the role of TRMs, the balance between regulatory T cells (Tregs) and Th17 cells, and the impact of various treatment modalities on disease recurrence. It evaluates the expression of TRM markers and the effectiveness of treatments such as anti-IL-17 agents and phototherapy in altering disease progression. The study also explores the genomic characteristics of psoriatic lesions post-treatment and the duration of clinical remission associated with different therapeutic approaches.

Results (if a Case Study enter NA)
The findings demonstrate a significant role of TRMs in psoriasis relapse, with environmental triggers reactivating these cells and leading to the production of inflammatory cytokines. Treatments targeting IL-17 showed a rapid decrease in TRM markers, particularly in the dermis, and were associated with different durations of disease remission based on the therapeutic approach. The study also found that the genomic profile of treated lesions does not fully normalize, with variations in gene expression linked to the type of treatment and possibly influencing the size of the molecular scar and relapse duration.

Conclusion
Psoriasis relapse is intricately linked to the presence of TRMs and the molecular scarring of previously healed lesions, influenced by various treatment modalities. The study underscores the importance of targeting TRMs and adjusting therapeutic strategies to extend the period of clinical remission and prevent the transition to more severe disease forms. Future research should focus on elucidating the detailed mechanisms of psoriasis relapse and developing targeted treatments to normalize the genomic profile of healed skin, ultimately improving patient outcomes and management of the disease.