bluuebunny/crossref_metadata_2025_split huggingface dataset:
Concurrent metastatic melanoma and follicular lymphoma diagnosis on liver fine needle aspiration and biopsy
Authors: Elkhazeen A , Khan J , Cramer H M , Mesa H , Segura S , Nelson W 
Published: November 2023

Abstract

Introduction/Objective
The liver is commonly involved in metastatic neoplasms, such as colorectal, breast, esophageal, stomach, pancreatic, lung, and kidney. Fine needle aspiration (FNA) and core needle biopsy (CNB) are frequently used to establish an accurate diagnosis of liver masses. Here we report the coexistence of metastatic malignant melanoma (MM) and follicular lymphoma (FL) involving the liver. To our knowledge, This is the first reported case, and we hope to add to the literature.

Methods/Case Report
The patient is a 75 -year-old woman diagnosed with stage I skin melanoma in 2004, and systemic low-grade FL in 2009. She presented with fatigue, weight loss, and difficulty swallowing. CT scan showed new pulmonary, hepatic, and splenic nodules with stable abdominal lymphadenopathy. Smears from the liver nodule FNA showed numerous single tumor cells with moderate cytoplasm and eccentrically located hyperchromatic nuclei. CNB showed fragments of liver parenchyma infiltrated by metastatic melanoma and a focal portal area with expansile lymphoid aggregates of small lymphocytes. The lymphoid cells were positive for CD10, CD20, PAX5, and BCL2 and negative for CD3, CD5, BCL6 and BCL1, with a low Ki-67 proliferative index (&lt;5%). Although not characteristic of an FL, this immunophenotype was most consistent with FL given her clinical history. The metastatic MM was positive for SOX10 and Melan-A, while negative for CD45 and CK AE1/AE3. Despite neoadjuvant therapy, the patient died just two months after diagnosis.

Results (if a Case Study enter NA)
NA

Conclusion
A tremendous variety of neoplasms can occur in the liver. Different morphologies under a microscope should broaden the list of differential diagnoses. Familiarizing with morphological features and using ancillary studies are essential for accurate diagnosis and proper patient management. FNA and CNB combined with ancillary studies can successfully establish the diagnosis of malignancies involving the liver.
Metastatic Mullerian adenocarcinoma involving the pancreas initially misdiagnosed as an intraductal papillary mucinous neoplasm (IPMN): A case report, and lessons learned
Authors: Liang G , Saeed O A , Cramer H M 
Published: November 2023

Abstract

Introduction/Objective
Metastases to the pancreas from Mullerian primaries are rare and can be confused with primary pancreatic malignancies.

Methods/Case Report
A 49-year-old woman presented with right lower abdominal pain. She denied any prior history of malignancy but had undergone hysterectomy and bilateral salpingo-oophorectomy for unknown reasons. CT scan revealed an 8.9 cm predominantly cystic mass in the pancreas, highly suspicious of an invasive mucinous neoplasm. EUS-guided FNA of the pancreas showed large, complex papillary fronds of mucinous epithelial cells in a background of abundant extracellular mucin, findings that were interpreted as an intraductal papillary mucinous neoplasm (IPMN) with foci of high-grade dysplasia and possible adenocarcinoma. A subsequent PET/CT scan demonstrated a 3.9 cm hepatic mass and a 3.8 cm perihepatic lesion. FNA of the liver was interpreted as metastatic pancreatic adenocarcinoma. Despite aggressive treatment, her disease progressed. Molecular profiling of her liver tumor demonstrated a pathogenic KRAS G12D mutation and a PDGFRA variant of uncertain significance. Genomic (DNA) and transcriptomic (RNA) analysis indicated a 96% probability that the patient had ovarian or fallopian tube adenocarcinoma and a 4% probability of uterine endometrial adenocarcinoma rather than metastatic pancreatic adenocarcinoma. A panel of immunocytochemical stains was performed on the pancreas and liver FNAs. The tumor cells were strongly positive for CK7, CK19, ER, and WT1, focally positive for PAX8 (nuclear) and P53 (wild-type), and negative for CK20, CDX2, and SATB2.

Results (if a Case Study enter NA)
NA

Conclusion
These findings corroborated the molecular analysis suggesting that the patient had metastatic Mullerian adenocarcinoma rather than metastatic pancreatic adenocarcinoma. Her oncologic treatment was adjusted accordingly.
Retrieving single-cells and cell clusters from cytology direct smear slides for genomic evaluation
Authors: Zhu Y , Lowe A C , Aragon A , Gonzalez-Pena V , Gawad C 
Published: November 2023

Abstract

Introduction/Objective
The key role of cytopathologists is to generate diagnoses based on cytologically stained samples. However, diagnoses increasingly need genomic data in addition to morphologic information. By current methods, morphologically diagnostic samples may be inadequate to perform comprehensive ancillary testing.
Therefore, there is a great need for a workflow that can reliably identify and retrieve target cells based on their morphological features. This workflow should also enable highly sensitive molecular profiling from individual cells or small clusters of cells, allowing accurate detection of genomic alterations like copy number variations (CNVs) and single nucleotide variations (SNVs).

Methods/Case Report
Previously, we established a workflow that combines the RareCyte (Seattle, WA) cell-retrieval platform with primary template-directed amplification (PTA) to generate whole genome libraries from Propidium iodide (PI) stained effusion tumor single-cells or cell clusters and detected copy number variation. In this study, we modified and expanded the assay to identify and retrieve malignant or suspicious cells from Diff-Quik direct smear slides from patient pleural effusion specimens. The samples were further subjected to PTA amplification and library preparation for future copy number variation (CNV) evaluation. In parallel, patient cells from PI-stained smear slides were also obtained and processed to serve as controls.

Results (if a Case Study enter NA)
Direct smear slides were made from patient pleural fluid (N=5). In contrast to the previous PI staining, which only highlighted nuclei under fluorescence microscopy, Diff-Quik staining allowed nuclear and cytoplasmic morphology evaluation to identify target cells via light microscope. The XYZ coordinates of each target cell or cluster were further documented in the RareCyte Imager software to facilitate cell retrieval. We have successfully collected 39 single-cell and 18 bulk-cell samples from 5 different cases. PTA amplification has been completed and DNA yields of amplified libraries are promising.

Conclusion
We demonstrated that our modified cell retrieval platform can reliably obtain both single-cell or cluster samples based on morphology from cytologic smear slides made from patient effusion specimens. These collected samples were shown to be compatible with downstream amplification and library preparation enabling CNV evaluation and future deep sequencing for diagnostic, prognostic, and predictive pathogenic mutation identification.
A RARE PRESENTATION OF SMALL CELL LUNG CARCINOMA METASTASIZING TO PHEOCHROMOCYTOMA
Authors: Asad M , Sieber S C 
Published: November 2023

Abstract

Introduction/Objective
Tumor-to-tumor metastasis is a rare phenomenon in which primary tumor cells metastasize hematogenously into another unrelated tumor. We report an interesting case of a tumor-to-tumor metastasis of small cell lung carcinoma to pheochromocytoma of the adrenal gland.

Methods/Case Report
A 75-year-old female former cigarette smoker with a past medical history of hypertension presented with a two-day history of dyspnea and epigastric pain. Physical examination demonstrated elevated blood pressure only. A computerized axial tomography scan of the chest and abdomen showed an incidental 3.1 cm right adrenal mass and right hilar lymphadenopathy. Detailed biochemical workup showed elevated serum epinephrine, norepinephrine, and 24-hour urine metanephrine. Adrenalectomy showed a 5.8 cm tumor mass with solid lobulated yellow to pink-tan and focally hemorrhagic cut surfaces. Microscopic examination showed a neoplasm composed of two distinct components. The predominant component consisted of nests ("zellballen") of large polygonal cells with variable nuclear pleomorphism, abundant amphophilic to basophilic cytoplasm, and a delicate intervening fibrovascular stroma, without significant mitotic activity. The minor component was characterized by sheets and nests of "small blue cells" with round to ovoid nuclei, stippled nuclear chromatin pattern, scanty cytoplasm, patchy necrosis, and high mitotic activity (&gt;20 mitoses per 10 HPF). Foci of small cell carcinoma deposits were also present in the lymphatic channels of pheochromocytoma. Immunohistochemical stains demonstrated cytoplasmic staining of predominant component tumor cells for synaptophysin, chromogranin, and the absence of staining for TTF-1, CK CAM 5.2, and Ki-67. However, minor component tumor cells demonstrated cytoplasmic staining for synaptophysin, membranous staining for CK CAM 5.2, and nuclear staining for TTF-1 and Ki-67(60%). A final diagnosis of composite pheochromocytoma (predominant) and small cell neuroendocrine carcinoma (minor) was rendered. The possibility of a” collision” tumor comprising primary small cell carcinoma of pulmonary origin metastatic to an adrenal pheochromocytoma in light of the patient's cigarette smoking history and the presence of right hilar lymphadenopathy was favored. The subsequent biopsy of the right subcarinal adenopathy showed small cell carcinoma.

Results (if a Case Study enter NA)
NA

Conclusion
To the best of our knowledge, this is the only case of metastasis to a pheochromocytoma from a small cell neuroendocrine lung carcinoma.
Extraskeletal Osteosarcoma with Extensive Gastrointestinal Tract Involvement
Authors: Mirzaei Baboli K , Salehiazar S , Jackson D , Rector A R , Mousavi S 
Published: November 2023

Abstract

Introduction/Objective
Extraskeletal osteosarcoma (ESOS) is a rare aggressive mesenchymal tumor that originates from soft tissues or visceral organs, differentiating it from primary bone osteosarcoma. ESOS represents less than 5% of all osteosarcomas and less than 1% of soft tissue sarcomas. Primary ESOS in the gastrointestinal tract (GIT) is exceedingly uncommon, with a low incidence rate

Methods/Case Report
A 70 year-old-man with a history of hypertension, Myasthenia Gravis, hypothyroidism (status post total thyroidectomy), and skin cancer presented to the clinic with a chief complaint of abdominal fullness of 4 months duration. Primary work-up revealed anemia (Hemoglobin 7 g/dl) and peripheral blood smear was suggestive of bone marrow infiltration. Evaluation with upper gastrointestinal endoscopy and ultrasound demonstrated regular mucosal folds of the stomach with a solid-cystic lesion between the body of the pancreas and the posterior aspect of the stomach. The patient underwent a fine needle biopsy showing a spindle cell lesion with positive immunohistochemistry (IHC) for Smooth Muscle Actin (SMA), beta-Catenin, CD34, and negative for panCK, DOG-1, and CD117; suggestive of leiomyoma. The patient underwent a total gastrectomy, distal pancreatectomy, and splenectomy. Examination of the specimen confirmed a high-grade malignant spindle cell lesion with numerous associated osteoclast-like multinucleated giant cells, and focal areas consistent with osteoid changes. The IHC was requested and the cells were positive for WT1 and Muscle Specific Actin, SATB2, and Ki-67&gt;90% whereas the cells were negative for SMA, Myo-D1, Myogenin, S100, SOX10, MART1, CD34, CD31, and Calretinin. Also, the genetic analysis for MDM2 was negative. These findings confirmed the diagnosis of ESOS with abdominal visceral involvement (stomach, pancreas, and omentum)

Results (if a Case Study enter NA)
NA

Conclusion
ESOS is an extremely rare condition that demands a comprehensive evaluation involving clinical, radiological, histopathological, and immunohistochemical analyses to establish an accurate diagnosis. Distinguishing ESOS from primary bone osteosarcoma is vital due to the different treatment strategies. Additionally, ESOS requires a unique therapeutic approach compared to more prevalent gastrointestinal sarcomas like GIST or leiomyosarcoma.
The mainstay of ESOS treatment entails complete surgical resection of the tumor with clear margins, accompanied by adjuvant chemotherapy. Ensuring precise diagnosis is of utmost importance to provide suitable and effective treatment
Clinicopathologic Features of Autoimmune Metaplastic Atrophic Gastritis (AMAG) in an Underserved Community
Authors: Gaddam S , Kisha S , Tawil T , Theisen B , Husain S 
Published: November 2023

Abstract

Introduction/Objective
Autoimmune metaplastic gastritis (AMAG), typically associated with pernicious anemia and subsequent risk of gastric neoplasia, is an entity often underrecognized in routine gastric biopsies and can lead to delay in the diagnosis and management of patients. In this study, we analyze the demographics and clinical features of AMAG in an inner city, underserved population with histopathologic and serologic correlation.

Methods/Case Report
We retrospectively collected data on patients diagnosed with or with probable AMAG over a 29-month period from Jan 2020-May 2022 and correlated the histopathology with demographics and clinical presentation. We retrieved prior biopsies on available cases.

Results (if a Case Study enter NA)
Our Data Demonstrates:
-Almost equal prevalence of AMAG in African American and Caucasian patients, with a higher rate of incidence in older population (68% over the age of 60 years), and in female patients.
-43.5% had antibody testing and only 25% of patients had testing for Gastrin levels, but the diagnosis of AMAG was frequently associated with a positive laboratory finding (78.7% and 74.3%, respectively) when performed.
-57.8% had clinically documented anemia, among those, 88.9% had microcytic or normocytic anemia. Only 11.1% had macrocytic anemia
-A history of prior biopsies demonstrating chronic gastritis was seen in 33% of patients.

Conclusion
Our study demonstrates that patients with AMAG come from diverse backgrounds and frequently lack laboratory findings typically associated with pernicious anemia at the time of diagnosis. As such, pathologists and gastroenterologists may benefit from a lower threshold when considering which patients to evaluate for AMAG.
Complete laboratory evaluations were infrequent, which is a limitation, but this may be secondary to a lack of clinical knowledge regarding appropriate testing and an underserved patient population which lacks good continuity of care.
Unveiling the Unexpected: A Metastatic AFP-Producing Carcinoma of Gastric Origin Masquerading as Hepatocellular Carcinoma on Liver Biopsy
Authors: Aydin H B , Subasi N B , Abdelwahab H , Lee H 
Published: November 2023

Abstract

Introduction/Objective
Alpha-fetoprotein (AFP)-producing gastric carcinoma (AFPGC) is a rare and aggressive subtype of gastric cancer characterized by the production of AFP. It is well known for its morphological heterogeneity, displaying a wide spectrum of histological patterns that can mimic other tumor types including hepatocellular carcinoma (HCC), which is similarly associated with AFP elevation, complicating its identification. We report a case of an AFPGC encountered in a liver biopsy.

Methods/Case Report
A 60-year-old male presented with chronic abdominal pain and unintentional weight loss over the past few months with associated mild constipation and nausea. The patient denied melena or hematochezia. An abdominal CT scan revealed multiple round lesions within the liver, the largest measuring 4.9 cm, without evident primary site. AFP and CEA were elevated at 2883.0 ng/ml and 36.7 ng/ml, respectively. A liver biopsy demonstrated a proliferation of polygonal cells with eosinophilic to clear cytoplasm in a predominantly trabecular and focally acinar/pseudoglandular growth pattern. The tumor cells were positive for Glypican-3, SALL4, CDX-2 and AE1/AE3 while negative for HepPar-1 and Arginase-1. While the tumor's immunoprofile and histomorphology along with elevated serum AFP suggested poorly differentiated HCC, the multifocality of lesions raised a possibility of a metastatic AFPGC. Subsequent upper endoscopic ultrasound prompted by pathology report revealed a large gastric mass and the biopsy showed conventional adenocarcinoma with similar immunoprofile. Colonoscopy showed a cecal polyp consisting of a diffuse proliferation of signet ring cells without a precursor, consistent with metastatic AFPGC.

Results (if a Case Study enter NA)
NA

Conclusion
AFPGC is known for its morphologic heterogeneity and mimicry of other entities. This case highlights the importance of considering metastatic AFPGC when tumors with unusual presentation show SALL4 positivity in the setting of elevated AFP. Hepatoid morphology of AFPGC in the liver can be a diagnostic pitfall especially when the primary site is unknown.
An Exceptional Rarity: Coexisting Amebic Enterocolitis and Metastatic Colon Adenocarcinoma Deceptively Resembling Crohn's Disease Grossly
Authors: Huang H , Salahi W 
Published: November 2023

Abstract

Introduction/Objective
Amebiasis is a parasitic infection that is rare in developed countries but mimic crohn’s disease or colon malignancy. Amoeboma of the large intestine, a subtype of amebiasis, is an even rarer condition that can be challenging to differentiate from colorectal carcinoma. While co-occurrence of these two conditions is exceedingly rare, we present a unique case of severe fulminant necrotizing colitis with perforation, which coexisted with metastatic colon adenocarcinoma.

Methods/Case Report
A 54-year-old female with no travel history, recently diagnosed with sigmoid colon cancer and liver metastasis, presented with acute worsening of her chronic abdominal pain. Upon examination, a sigmoid/rectal mass with local invasion of the bladder and left salpinx, along with liver metastases, was discovered. The patient underwent an emergent exploratory laparotomy, total abdominal colectomy, and end ileostomy due to concerns for perforation.
The colon's mucosa displayed a cobblestone-like appearance with diffusely raised tan areas, erosions, exudate, and intervening brown mucosa (Figure 1). Microscopic examination revealed amebic trophozoites invading submucosa diffusely with ingested RBCs in cytoplasm, small round nucleus with dot-like karyosome (figure 2), involving the colon and attached terminal ileum, with perforations in the terminal ileum and ascending colon. The trophozoites were further confirmed by negative CD68 stain, and strongly PAS stain.
Additionally, metastatic adenocarcinoma (figure 3-5) was found in two lymph nodes, along with tumor deposits in the mesenteric fat, but no primary adenocarcinoma was identified despite extensive search and sampling.
Postoperatively, the patient completed an antibiotic course for Entamoeba, with a smaller lesion near the gallbladder responded, the hepatic lesion remained unchanged, indicating metastatic disease.

Results (if a Case Study enter NA)
NA

Conclusion
Although the colectomy specimen's gross findinds initially suggested Crohn's disease, the overall microscopic features favored amebic colitis due to the presence of numerous amebic trophozoites and the patient's lack of IBD history.This case highlights the potential coexistence of colonic amebiasis and colorectal carcinoma, which can mimic each other. This case serves as a reminder to avoid delayed diagnosis and treatment of ameboma infection in patients with colon malignancy history, even in non-endemic countries like the United States. .
Intracholecystic Tubular Non-Mucinous Neoplasm: A Distinct Entity
Authors: Fernandez-Hazoury D A , Salehiazar S , Kim H , Salahi W 
Published: November 2023

Abstract

Introduction/Objective
Intracholecystic tubular non-mucinous neoplasm (ICTN) of the gallbladder is a pre-invasive high-grade tumor of non-mucinous tubules which is a rare entity. Histologic morphology distinguishes this tumor from other more common gallbladder neoplasms like intracholecystic papillary neoplasm (ICPN) or gallbladder pyloric adenoma.

Methods/Case Report
A 62-year-old female with no significant past medical history was found to have elevated transaminase in routine lab work. Ultrasound incidentally revealed a pedunculated 1.7 cm polyp in the gallbladder, along with numerous smaller and unmeasured polyps. Six months later, a repeat ultrasound revealed multiple echogenic polyps with the largest polyp measuring 2 cm. She had a laparoscopic cholecystectomy. During surgery, the contents of the polyp were iatrogenically expulsed were submitted as a seperate specimen. Grossly, the gallbladder contents consisted of multiple irregular red soft tissue fragments measuring up to 2 cm, and the gallbladder had an attached cystic lymph node and diffuse small yellow polyps along the wall. The gallbladder and node were entirely evaluated microscopically and revealed diffuse cholesterolosis with cholesterol polyps without dysplasia. The gallbladder content revealed a polypoid neoloplasm with cauliflower-like surfaces, back-to-back tubules, and squamous morules. The lining epithelial cells are cuboidal in shape with vesicular pale nuclei with prominent nucleoli and scant cytoplasm. No papillary structures with fibrovascular core were identified. These findings confirmed the diagnosis of ICTN.

Results (if a Case Study enter NA)
NA

Conclusion
ICTN commonly presents as detached sludge mimicking granular material within the gallbladder lumen and can be a “disappearing” polyp. There is a clear distinction between ICTN and ICPN based on histological features. ICTN is characterized exclusively by high-grade features, while ICPN can be either low-grade or high-grade with high risk of invasion. ICTN is characterized by pedunculated polyps with a thin stalk and multilobulated growth, typically in the background of a relatively unremarkable gallbladder with a crowded proliferation of small tubular units without a fibrovascular core. Pyloric gland adenomas usually don’t show dysplasia and are less than 1 cm. It is important to submit any identified content of the gallbladder. Keeping this rare entity in mind as a differential diagnosis is essential for gallbladder neoplasms.