bluuebunny/crossref_metadata_2025_split huggingface dataset:
Focal Plasmacytoid and Fibrotic Hepatic Lesion In An Autopsy Examination Of A Patient With Multiple Myeloma
Authors: Zaidi A , Liu J , Sonawane S S , Guzman G , Qazi O 
Published: November 2023

Abstract

Introduction/Objective
Multiple Myeloma (MM) is a plasma cell neoplasm mainly affecting the bone marrow. Common sites of extramedullary dissemination are skin, liver, kidneys, and the central nervous system. Though diffuse plasma cell infiltration of the liver has been described in autopsy literature in about 50% of patients with multiple myeloma, it is usually not associated with focal infiltration. Rare cases of plasma cell infiltration leading to non-obstructive cholestasis and acute hepatic failure have been described.

Methods/Case Report
We hereby present a case of 54-year-old decedent male with past medical history of obesity, hypertension, and diabetes mellitus who presented to the emergency department with complains of productive cough, dyspnea, vomiting and back discomfort. Labs showed leukocytosis, thrombocytopenia and hypercalcemia.
Additionally, there was an increase in lactate and serum monoclonal protein levels and derangements in renal and liver function tests. Skeletal bone survey showed a 1.4 cm well-circumscribed lucent lesion within the distal third of the left clavicle and in the calvarium which raised concern for multiple myeloma and tumor lysis syndrome. During the hospital course, the patient’s overall clinical condition declined rapidly, and he passed away on the third day of admission. During the autopsy examination, the patient’s bone marrow revealed diffuse infiltration of plasma cells confirming multiple myeloma. In addition, the histopathological examination of the liver revealed focal plasmacytoid fibrosis, moderate periportal inflammation with plasma cell infiltration and microsteatosis. Immunohistochemical stains with CD138, MUM-1, ISH kappa and lambda and trichrome highlighted the focal plasma cell infiltration and fibrosis in the liver, respectively.

Results (if a Case Study enter NA)
NA

Conclusion
Our case shows the importance of utilizing histopathological and immunohistochemical examination in confirming the diagnosis of multiple myeloma, specifically in the autopsy cases where there is no previous diagnosis of multiple myeloma. In addition, it highlights the awareness of rare focal plasmacytoid fibrosis and infiltration as an extramedullary presentation of multiple myeloma.
Alveolar rhabdomyosarcoma with pre-therapy maturation
Authors: Usman A , Hoyt R A , Hamza A , Meyer A R 
Published: November 2023

Abstract

Introduction/Objective
Alveolar rhabdomyosarcoma (ARMS) is the second most common type of rhabdomyosarcoma in children and adolescents. Common locations include the head and neck, trunk, extremities, and pelvic area. They are a prototypical round cell sarcoma and are treated with multimodality therapy. The purpose of this report is to describe a case of this tumor showing unusual rhabdomyoblastic differentiation which is most commonly seen in post- therapy setting but is almost unheard of pre-therapy.

Methods/Case Report
A three-year-old male presented with painless, right lower extremity mass. It was noticed two months prior and had been rapidly growing since then. Incisional biopsy was performed. Histologic sections showed a round cell sarcoma with an alveolar growth pattern. Variably mature single- and multinucleated rhabdomyoblasts with ample eosinophilic cytoplasm were present throughout the biopsy specimen. On immunostains, the tumor cells were positive for desmin, MyoD1, as well as myogenin (minor subset) and negative for pancytokeratin, CD45 and WT-1, strongly supporting the diagnosis of ARMS. FISH studies showed the presence of FOXO1 (FKHR) rearrangement, further confirming diagnosis.The patient received chemotherapy, radiotherapy, and surgery. On follow-up after six months, the patient was well with no significant complications.

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

Conclusion
Post-chemotherapy rhabdomyoblast differentiation is commonly seen and documented in literature, potentially signifying increased response of tumor cells to therapy. Our case highlights that such changes can also be seen pre-treatment and must not sway the pathologist from diagnosis of ARMS.
Clear Cell Sarcoma masquerading as Malignant Melanoma: A Case Report
Authors: Nadri M , Shiwlani S 
Published: November 2023

Abstract

Introduction/Objective
Clear cell sarcoma (CCS) is a rare and diagnostically challenging soft tissue tumor that can mimic other malignancies with melanocytic differentiation. Histologically it shows diffuse sheets of clear cells with scattered melanin pigment in a subset of cases. Other morphologies have been described but contain atleast a portion of clear cell features. We report a case of CCS with unusual histomorphology, highlighting the importance of incorporating cytogenetic and immunohistochemical studies to accurately diagnose this tumor.

Methods/Case Report
We present a case of a 49-year-old male with a left lateral knee mass associated with pain and swelling for one year. A core biopsy revealed a diffuse proliferation of pleomorphic spindle and atypical epithelioid cells. These atypical cells exhibited intranuclear vacuoles, variable prominent nucleoli, abundant dusky cytoplasm, and increased mitotic activity. Immunohistochemical studies were positive for S100, SOX10, and Melan-A (patchy), suggesting a melanocytic differentiation. However, no expression of Preferentially Expressed Antigen in Melanoma (PRAME) or BRAF V600E mutation was noted. Given the clinical history and lack of cutaneous melanocytic lesion, clear cell sarcoma was considered in the differential diagnosis. Fluorescence in situ hybridization (FISH) studies revealed Ewing sarcoma region 1 (EWSR1) gene rearrangement in neoplastic cells, confirming the diagnosis of CCS.

Results (if a Case Study enter NA)
NA

Conclusion
The tumor lacked definitive histologic features including clear cell features, demonstrating the variability in histomorphology that can be encountered with CCS. Distinction of CCS from melanoma is of clinical significance as treatment significantly differs. Accurate diagnosis requires the incorporation of cytogenetic and immunohistochemical studies to differentiate it from melanocytic neoplasms. Variability in histomorphology of CCS can pose, as is evident in our case, as a diagnostic pitfall, and CCS should be considered in the differential diagnosis of unusual non-cutaneous melanocytic proliferations that lack clear cell features and show compelete spindle and epithelioid morphology.
Ossifying fasciitis: A rare phenomenon and a mimicker for malignancy
Authors: Sami F I , Hamza A , Meyer A R 
Published: November 2023

Abstract

Introduction/Objective
Ossifying fasciitis is a relatively rare variant of nodular fasciitis. However, it can mimic malignant lesions, particularly extraosseous osteosarcoma. The purpose of this report is to describe a florid case of ossifying fasciitis with an unusual clinical course in a 17-year-old male.

Methods/Case Report
A 17-year-old male underwent surgery at an outside hospital for a soft tissue mass in his left upper thigh that had been present for over two years. Pathology was consistent with a benign myofibroblastic tumor. No bone formation was present in the biopsy. Next generation sequencing showed a COL1A1::USP6 gene fusion. The patient was then referred to our institution due to rapid recurrence and unresolving infection at the surgery site. An ultrasound revealed a mass measuring 3.3 x 2.7 x 1.3 cm at the surgery site. The patient subsequently underwent wide surgical resection of the mass.Gross inspection and sectioning of the specimen revealed a well-defined, encapsulated firm calcified lesion with approximately 30% soft pink gelatinous cut surfaces. Microscopically, the lesion was composed of spindle-shaped fibroblastic cells and extensive osteoblastic activity with a zonated transition from immature osteoid to immature woven bone. The diagnosis of ossifying fasciitis was rendered.

Results (if a Case Study enter NA)
NA

Conclusion
Rapidly growing lesions can be misinterpreted as sarcomas. Careful microscopic examination and correlation with clinical and radiologic data is critical for accurate diagnosis. Molecular data can be helpful in difficult cases.
Invadopodia formation assay: a promising experiment for targeting breast cancer invasion and metastasis
Authors: Abdelmonem M , Ali Hamad H , Md Hashim N , Al-Samarai A H , Eldaly R , Abdelfattah M Saleh , Wasim H , Abdelmageed M 
Published: November 2023

Abstract

Introduction/Objective
Invadopodia has been found to invade the extracellular matrix (ECM) in multiple cancers, including breast, lung, brain, and prostate, which is highly associated with cancer metastasis. Invadopodia have been shown to form in various cancer cells, such as the MDA-MB-231 breast cancer cell line.

Objectives
In-vitro testing to validate the anti-cancer invasion drugs using an invadopodia formation assay.

Methods/Case Report
MDA-MB-231 triple-negative breast cancer cell line was used in this study due to its highly invasive characteristics obtained from American Type Culture Collection. Cells were cultured in Dulbecco's Modified Eagle's Medium (DMEM), a high-glucose medium containing FBS 10% and 1% penicillin/streptomycin. Cells were maintained in a humidified atmosphere of 95% O2 and 5% CO2 incubator at 37 °C for normal conditions. Cells with low passage numbers were used in order to get accurate results. Then, the gelatin-coated coverslips were prepared for invadopodium assay, washed three times with ddH2O, and transferred to slides containing a drop of antifade, a mounting solution. For invadopodia quantification, invadopodia images on the F-actin, gelatin, and nucleus were taken using the same fluorescence microscope settings (Confocal Laser Leica fluorescent microscope, German). Cells were scored for the presence of underlying invadopodia. The mean percentage of cells with invadopodia formation was calculated for drug-validated tests.

Results (if a Case Study enter NA)
The study revealed how MDA-MB-231 cells penetrate the gelatin that mimics the ECM-like basement membrane in the human body; this is thought to be a key point during intravasation and extravasation steps in metastasis. The study showed actin-rich filament as red dots in the center of the MDA-MB-231 cells, representing invadopodia in a 3D image under normal conditions. In contrast, in a 2D image, invadopodia are represented as black dots on gelatin in a merged image.

Conclusion
Breast cancer is one of the leading causes of cancer-related death in the advanced stage. The study helps to promote using invadopodia assay to validate the effectiveness of the potential anti-cancer drugs and predict cancer metastasis in clinical studies. However, invadopodia formation assay can be especially useful for patients with early-stage cancers; it can help to predict which patients are more likely to benefit from aggressive treatment or further monitoring rather than immediate surgical intervention.
Proliferation Index in “HER2 Low” Metastatic Breast Cancer
Authors: Hrizat A S , Brachtel E 
Published: November 2023

Abstract

Introduction/Objective
There is considerable genetic heterogeneity between primary and metastatic breast cancer. The new classification of the "HER2-low" category includes tumors characterized by a low level of HER2 expression (immunohistochemistry (IHC) score 1+ or 2+ without in situ hybridization (ISH) amplification), in addition to the known HER2 negative (HER2-0) and HER2+ (amplified) cases. The Ki67 proliferation index (PI) can predict breast cancer prognosis. Proliferation changes in metastatic breast cancer and in different HER2 categories are not well delineated in clinical cohorts. In this study, we delineate proliferation characteristics of primary and metastatic breast cancer in association with HER2 status.

Methods/Case Report
We retrospectively reviewed the biological data from 98 metastatic breast cancer specimens for 90 patients from 2018-2021 (see Table 1). As part of the clinical workup, 72 metastatic cancer specimens had PI/Ki67, estrogen receptor (ER), and progesterone receptor (PR) testing by (IHC). HER2 was tested by IHC and reflexed ISH. We identified the overall frequency of breast cancer patients with different HER2 subtypes and compared the PI between primary and metastatic breast cancer within different HER2 categories.

Results (if a Case Study enter NA)
The median age at primary breast diagnosis was 51 (IQR; 42 – 58), and the median for metastatic cancer was 64 (IQR;57-70). Average PI/Ki67 was lower in metastatic cancers than in primary breast cancer samples, 38% and 46%, respectively (t-test, p &lt; .001, two-tailed). Most metastatic and primary tumors were HR-positive, 24 (56%) and 16 (64%). The triple-negative subtype HR-HER2- has the highest PI/Ki67 in primary and metastatic tumors. Among the metastatic specimens, we found “HER2 low” expression in 45 (62.5%); 19 (26.4%) were HER2-positive, and 8 (6.3%) were HER2-0. 85% of traditionally HER2-negative samples were “HER2 low”.
There were no statistically significant differences between the Ki67 proliferation index of “HER2 low”, HER2+, and HER2-0 patients (ANOVA, p= 0.488). Five patients (7%) showed different HER2 expressions between primary and metastatic cancer.

Conclusion
The average PI in our cohort is lower in metastatic breast cancers compared to primary breast cancers. This is an unexpected finding considering the pathophysiology of the metastatic cascade. Including "HER2 low" criteria increases the number of patients with metastatic breast cancer potentially eligible for HER2 targeted treatment from 26.4% (HER2+ / amplified) to over 60% (HER2 1+/2+ not amplified).
Evaluation of association of Magnesium levels with Hand Grip Strength in geriatric patients with hip fracture
Authors: Das S 
Published: November 2023

Abstract

Introduction/Objective
Magnesium is a macronutrient that plays a key role in several cellular processes.It is an essential mineral for bone metabolism. Not much is known about the association of magnesium and the risk of hip fractures in the Asian population. In this case control study, we evaluate the relationship between serum magnesium level and the risk of incident hip fracture. The purpose of this study was to investigate the association between magnesium and hand grip strength in hip fracture risk in the geriatric population residing in North India.

Methods/Case Report
Seventy-five patients with hip fracture, Group I and a similar number of controls, Group II were enrolled in the study. Samples were analyzed for serum levels of magnesium, 25 hydroxy Vitamin D, alkaline phosphatase, calcium, and phosphate by immunoassay. Hand grip strength of study subjects was measured using dynamometer. Correlation between magnesium levels and hand grip strength was analyzed in study population.

Results (if a Case Study enter NA)
Among the 75 subjects, 36 were men and 39 were women. The mean age of hip fracture cases was 63.7 ± 8.4 years which was comparable in men and women. Hypomagnesemia was observed in the hip fracture group (1.43 ± 2.36 mg/dl) whereas magnesium level in the control group was normal (2.35 ± 3.86 mg/dl) (p&lt;0.05). 25 hydroxy Vitamin D levels were significantly lower in cases (9.63 ± 4.53 ng/ml) as compared to controls (24.38 ± 5.27 ng/ml). The mean hand grip strength among hip fracture group (18.31 ± 4.69 kg) was significantly lower compared to that of the control group (31.54 ± 6.12 kg). There was a significant positive correlation between magnesium levels and hand grip strength (r=0.74, p&lt;0.05) in hip fracture population.

Conclusion
Hand grip strength as measured by hand held dynamometer was significantly lower in geriatric hip fracture patients, and there is a significant positive correlation between Magnesium and hand grip strength.
Patient with AIP gene mutation presenting with pituitary adenomatosis
Authors: Abu-Salah A , Vortmeyer A O , Cramer H M 
Published: November 2023

Abstract

Introduction/Objective
Familial isolated pituitary adenoma (FIAP) is frequently associated with germline mutation in the AIP gene. Clinically, it is characterized by the occurrence of isolated pituitary adenoma in 2 or more members of a family. In this case report, we describe a patient who presented with a pituitary adenoma and concurrent disseminated leptomeningeal adenomatosis.

Methods/Case Report
A 17-year-old female presented with amenorrhea and visual impairment. Brain MRI showed a 2.6 x 2.8 x 2.4 cm mass in the sella turcica extending to the suprasellar region. Multiple separate smaller (5-7 mm) masses in the leptomeninges of the anterior and middle cranial fossa, and small enhancing masses within the internal auditory canals bilaterally were also seen. She underwent craniotomy for resection of the pituitary tumor which was diagnosed pathologically as sparsely granulated somatotroph adenoma with co-expression of human growth hormone and prolactin. Postoperatively, she was found to have persistent hormone imbalance for which she received proton beam therapy. Genetic testing revealed mutations in the AIP gene. No mutations were detected in NF2, MEN1, and CDKN1B. At age 21, radiologic follow-up revealed recurrent pituitary adenoma, for which she underwent trans- sphenoidal resection, revealing the same histopathologic diagnosis. At age 22, MRI showed diffuse nodular enhancement throughout the subarachnoid spaces, most pronounced within the Sylvian fissures. Cytologic examination of cerebrospinal fluid (CSF) showed several loose aggregates of neuroendocrine cells, positive for synaptophysin by immunocytochemistry, consistent with the diagnosis with dissemination of pituitary adenoma cells in the leptomeninges.

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

Conclusion
In all 136 previously reported cases, leptomeningeal dissemination of pituitary adenoma has been exclusively described in post-surgical settings or after pituitary apoplexy. To our knowledge, this is the first case of disseminated pituitary adenomatosis noted at initial clinical presentation
Tumor to Tumor Metastasis of Breast Cancer to Pheochromocytoma in a 77 Year Old Man
Authors: Addo J A , Cox B 
Published: November 2023

Abstract

Introduction/Objective
Male breast cancer is rare, accounting for less than 1% of all breast cancer diagnoses. The most common sites for breast cancer metastasis include bone, lung, liver and brain. Tumor-to-tumor metastasis is an unusual phenomenon where one distinct malignancy is present within the substance of another independent tumor. We present a case of a 77-year-old man with a left pheochromocytoma and a tumor to tumor metastasis (TTM) from breast cancer. To our knowledge, this is the first case of a TTM from a breast cancer to a pheochromocytoma in a man.

Methods/Case Report
The patient is a 77 year old man with a past medical history of a right pheochromocytoma resected 20 years ago and a recently diagnosed right breast cancer. PET-CT identified a left adrenal mass.
Microscopic sections of the left adrenal gland showed nests of neoplastic cells arranged in a “zellballen” pattern. Adjacent to the neoplasm was a sheet of atypical epithelioid cells with increased nuclear to cytoplasmic ratios and frequent mitoses. Immunohistochemical stains were performed, and the nests of neoplastic cells with the zellballen pattern were positive for chromogranin and synaptophysin and negative for CAM5.2. A focus of the adrenal neoplasm was negative for these stains but stained positively for CAM5.2. Due to patient’s history, additional immunohistochemical stains were performed, staining with ER, CK7, GATA3, and mammaglobin was observed.
These findings were interpreted as a tumor-to tumor metastasis of metastatic breast carcinoma to pheochromocytoma in the left adrenal gland.

Results (if a Case Study enter NA)
NA

Conclusion
Tumor-to-tumor metastasis (TTM) is an unusual phenomenon in which a primary tumor metastasizes into another tumor. Lung and breast carcinomas are the most common metastatic donors, while renal cell carcinoma and meningioma are the most common malignant and benign recipients. In patients with TTM, proper use of immunohistochemical stains and patient’s history can aid in the diagnosis of the distinct tumors.
The Carney Triad
Authors: Cao T , Abdo M E , Hamza A 
Published: November 2023

Abstract

Introduction/Objective
Carney triad is a multi-tumor syndrome comprising of gastrointestinal stromal tumor (GIST), extra-adrenal paraganglioma and pulmonary chondroma that was first described in 1977. The purpose of this report of this to remind the pathologists about this triad and about the fact that pathology is far beyond just giving a diagnosis on a surgical specimen.

Methods/Case Report
A 41-year-old female presented with dizziness, nausea, vomiting, weakness, early satiety, and palpitations. She was found to be pregnant, and an ultrasound showed an intrauterine pregnancy along with a large abdominal mass. A subsequent computed tomography (CT) scan demonstrated a left adrenal heterogeneous mass. CT chest was also performed which demonstrated a 0.3 cm right middle lobe pulmonary nodule, compatible with a benign tumor.
Lab work showed cortisol, dehydroepiandrosterone sulfate (DHEAS), and adrenocorticotropic hormone (ACTH) to be within normal limits, but both metanephrine and normetanephrine were elevated. The patient was treated with an alpha and beta blockade prior to undergoing an adrenalectomy. During adrenalectomy an incidental mass was found at the greater curvature of the stomach.
On gross examination, the adrenal mass was a large, encapsulated, brown-black, multi-lobulated, weighing 1,427 grams and measuring 19.8 x 13.7 x 11.6 cm. Microscopically, the mass was consistent with an extra-adrenal paraganglioma, compressing the adjacent normal adrenal gland and not invading or arising from it. The stomach mass was grossly tan-yellow, multi-lobulated, and firm. The cut sections were variegated tan, white. Microscopically, the mass was consistent with a GIST.

Results (if a Case Study enter NA)
NA

Conclusion
Individual diagnoses were rendered for the adrenalectomy and gastric mass specimens. Additionally, possibility of carney’s triad was suggested based on patient’s chest imaging findings.