bluuebunny/crossref_metadata_2025_split huggingface dataset:
Rare Case of Distant Cutaneous Metastasis of Urothelial Carcinoma
Authors: Htoo A , George R S , Lin G 
Published: November 2022

Abstract

Introduction/Objective
Cutaneous metastasis of urothelial carcinoma is extremely rare with poor prognosis. Many cutaneous metastases present in locoregional areas such as abdomen, groin, genitalia or thigh. Only very few cases present with distant cutaneous metastases. We report a rare case of urothelial carcinoma presenting with a cutaneous metastasis to the right neck.

Methods/Case Report
A 71-year-old male with a history of prostate cancer in 2009 presented with hematuria with clots, urinary retention and dysuria. The patient was also noted to have right submandibular ulcerative mass measuring 2.6 cm. Cystoscopy revealed a nodular tumor in the right lateral trigone area and transurethral resections of bladder tumor revealed high-grade papillary urothelial carcinoma, invasive into muscularis propria with lymphovascular invasion. Skin punch biopsy of the right submandibular mass was obtained revealing an infiltrative nodular proliferation of sheets of atypical epithelioid cells with readily identifiable mitoses in at least the dermis without an epidermal connection. Immunostains show the lesional cells are positive for CK5/6, EMA, Ber-EP4 (weak), p40, and GATA3 with variable positivity for p16, consistent with metastatic urothelial carcinoma. The patient received 4 cycles of cisplatin-gemcitabine chemotherapy with good partial response, continued with avelumab for maintenance therapy and is alive up to 6 months.

Results (if a Case Study enter NA)
NA.

Conclusion
Most cutaneous metastases of urothelial carcinoma occur in the local region and have poor prognosis with patients dying within several weeks without treatment. It is important for pathologists to be aware of cutaneous metastatic urothelial carcinoma in more distant sites.
Incidental Thyroid Carcinomas versus Benign Thyroid Cases. A Clinico-Radiological Comparison
Authors: Irfan A , Khalaf Z , Hamidpour S , Abbasi S 
Published: November 2022

Abstract

Introduction/Objective
We aim to identify the clinico-radiological characteristics unique to incidental thyroid carcinomas (ITCs) in comparison to benign thyroid cases. Previous studies show a positive correlation between ITCs and a euthyroid state. Currently nodules greater than 4 cm (N&gt;4cm) with or without a negative fine needle aspiration (FNA) are excised because of a higher risk of malignancy.

Methods/Case Report
A 6-year retrospective study was performed on 227 thyroidectomy specimens collected during 2017-2022. 146 patients were benign. 26 patients with a negative/absent FNA were found to have ITCs. 55 patients had malignant thyroids (MTs). Age, gender, compressive symptoms, thyroid hormone status, presence of nodules, number of nodules, N&gt;4cm, suspicious radiologic findings, personal history of other malignancies, family history of thyroid cancer (FHTCA) and a family history of thyroid disease were analyzed between the benign and ITC groups. A t-test was utilized for numerical variables and a chi-square test for categorical values. For any significant correlations, a maximum likelihood estimate was used to calculate the odds ratio.

Results (if a Case Study enter NA)
Incidence of ITC amongst all specimen was 11.4% (26/227). 32% (26/81) of all reported MTs were ITCs. Papillary thyroid carcinomas accounted for 92.3% (24/26) of ITCs, follicular carcinomas accounted for 7% (2/26). 3/26 patients with ITC, 4/146 patients with benign thyroids and 5/55 patients with MT had a FHTCA. We found a significant correlation between FHTCA and thyroid malignancy [MT + ITC; odds ratio = 4.11 (CI = 1.198 – 14.154)]. A FHTCA was associated with more than a 4 times likelihood of having ITC compared to those without a family history (odds ratio = 4.77) (CI [1 - 22.782]). Other variables did not show any statistically significant differences between the ITC and benign groups.

Conclusion
Although previous studies report a correlation between ITCs and a euthyroid status and N&gt;4cm, our study didn’t confirm it. However, this may be due to our smaller sample size. In our patient population, an FHTCA was associated with significantly higher incidence of ITCs which may outline a subpopulation that should be considered for more aggressive screening. No other variables were statistically significant.
The eyes don't see, what the mind doesn't know
Authors: Elsarraj H , Hamza A 
Published: November 2022

Abstract

Introduction/Objective
Calcifying fibrous tumor is a rare benign mesenchymal neoplasm. The etiology and pathogenesis of this tumor are uncertain. It has wide anatomical distribution. The tumor is most commonly found in the soft tissues of the extremities in younger individuals. However, in middle aged patients it tends to affect the visceral locations more commonly. In visceral location it can mimic aggressive lesions clinically. The purpose of this report is to describe a case of calcifying fibrous tumor in a 71-year-old female with a history of breast carcinoma who was found to have an incidental small bowel mass on her follow up. Clinically and radiologically and the main diagnostic consideration were metastatic disease and gastrointestinal stromal tumor.

Methods/Case Report
The patient underwent an open small bowel resection, and a 6.5 cm segment of small bowel was sent to pathology. Grossly, a 2.0 cm tan-pink smooth round submucosal polyploid mass protruding into the lumen, mimicking gastrointestinal stromal tumor was identified. The tumor was hard and serially sectioned to reveal a white, calcified cut surface. Microscopically, the tumor appeared hypocellular and composed of scant spindle cells embedded in a dense, hyalinized and calcified, collagenous stroma. Immunohistochemical stains for pan cytokeratin, DOG1, desmin, S100, CD34, and MUC4 were negative, and diagnosis of calcifying fibrous tumor was rendered.

Results (if a Case Study enter NA)
NA.

Conclusion
This case highlights the importance of knowledge of rare entities in providing accurate diagnosis for lesions that can clinically mimic common tumors.
Is the Primary Tumor Site of Ampullary Carcinoma Distinct in the Setting of Morphology Subtype?
Authors: Smith C J , Scott K , Rao D 
Published: November 2022

Abstract

Introduction/Objective
Ampullary cancer (AC) are rare and represents only 6% of the malignant periampullary tumors. Two main histologic subtypes of AC are pancreatobiliary (Pb-AC), and intestinal (In-AC). The data on the influencing role of several characteristics associated with AC subtypes on long term outcome is still emerging. Our study aimed to analyze the two subtypes Pb-AC and In-AC regarding their primary tumor site, median overall survival, and associated precursor lesion.

Methods/Case Report
Using the cBioPortal platform and systematic bioinformatical analysis of the Cancer Genome Atlas Baylor College of Medicine Cell Reports, 2016, 133 AC patients were included and analyzed based on their morphology subtype. Of which 62 patients had the intestinal subtype, and 71 had the pancreaticobiliary morphological subtype.

Results (if a Case Study enter NA)
The role of primary tumor site was statistically significant (p-value = 0.01) among subtypes Pb-AC and In-AC (See Figure). Remarkably, the primary tumor site most associated with the pancreaticobiliary subtype was the distal bile duct, and the intestinal subtype was intra-ampullary. Additionally, the precursor lesion identification (absent vs present) was statistically significant among the subtypes (p-value = 0.01). Further, the median overall survival in ampullary carcinoma varied among the morphology of the two subtypes: In-AC (75.56 months, (95% CI: 57.04-NA)) and Pb-AC (27.04 months, (95% CI: 18.29-NA)).

Conclusion
The findings in this study highlight the complex multifactorial role of the two morphological subtypes in AC. Further studies are essential for understanding the underlying tumor site specific molecular signatures leading to subtyping and their impact on prognosis.
Temporal and Sequential Relationships Between Perianal and Severe Ileal Crohn’s, Both as Strong Representations of Crohn’s Fistulizing Phenotypes
Authors: Sivanandham S , Jakate S 
Published: November 2022

Abstract

Introduction/Objective
Most cases of inflammatory bowel disease can be categorized as ulcerative colitis(UC) or Crohn’s disease(CD) on the basis of clinical profile, disease distribution, imaging and endoscopic findings, and pathological abnormalities. Ileal CD with deep fissuring ulcers and imminent or overt fistulae represents a specific phenotype. A similar fistulizing phenotype is indicated by complex perianal CD which shows fistulous tracts between rectum and perineum. We followed CD patients with either disease to discover if both fistulizing phenotypes occurred concurrently or with any predictable sequence.

Methods/Case Report
From our databases, we collected 21 patients with complex perianal CD(M:F=7:14, ages 23-80) and 19 patients with fistulizing ileal CD(M:F=11:8, ages 10-67) and followed them for a period of up to 16 years(2005-2021). Our purpose was to discover if both fistulizing phenotypes occurred in the same patients, and if so, was it concurrent or in any sequence, and to find the strength of the clinical diagnosis of CD when one or both phenotypes presented in a patient.

Results (if a Case Study enter NA)
Concurrent occurrence of perianal and ileal CD was the most common(6/21 perianal & 8/19 ileal cases: total 35%). When patients first presented with perianal CD, they had an equal chance of not manifesting ileal phenotype(5/21) or manifesting it earlier(5/21: average of 5 years earlier) or later(5/21: average of 2.5 years later). However, when patients first presented with ileal CD, they had a strong possibility of having manifested perianal disease in the past(10/21 or 48%: average of 5 years), when it was overlooked as a strong indicator of Crohn’s. Perianal CD was considered a strong clinical diagnosis of Crohn’s but only when it occurred concurrently or was preceded by ileal CD. Fistulizing Ileal CD was considered a strong clinical diagnosis of Crohn’s and most cases had prior perianal CD.

Conclusion
Both perianal and severe ileal CDs are fistulizing phenotypes that are strong indicators of Crohn’s and occur concurrently in 35% of cases. When followed for a long period, both phenotypes manifest in most patients when they have severe fistulizing disease. Perianal CD appears to precede ileal CD by an average of 5 years. While fistulizing ileal CD is clinically unequivocally diagnosed as Crohn’s, perianal CD may be overlooked as Crohn’s, unless there is concurrent or prior ileal CD.
A Case of Acute Disseminated Histoplasmosis of the Liver in a Patient Receiving Amphotericin-B Therapy
Authors: Irfan A , Hamdan H 
Published: November 2022

Abstract

Introduction/Objective
Acute disseminated histoplasmosis (DH), caused by Histoplasma Capsulatum (HC), occurs primarily in immunocompromised hosts. It is characterized by an abrupt onset of symptoms (fever, malaise, hepatosplenomegaly, lymphadenopathy, anemia, leucopenia and thrombocytopenia) and a lack of granulomatous inflammatory response. If left untreated, death occurs within three months of the disease. The treatment of choice is a two-week course of Amphotericin-B (AmpB-Tx). Studies show a drop in fungal load in 85% of blood cultures and a drop of 1.6 U and 2.1 U in serum and urine antigen levels of histoplasmosis respectively, within 14 days of treatment thereby making it unlikely to see liver failure secondary to acute DH in a patient receiving AmpB-Tx.

Methods/Case Report
We present a case of a 41-year-old male, newly diagnosed with HIV (CD4=44; viral load=5,350,000) and DH on AmpB-Tx. At presentation, his liver function tests (LFT’s) were mildly elevated (Bilirubin =2.7mg/dL; ALP=259U/L; AST=271U/L; ALT=71U/L). On Day-9 of AmpB-Tx, he became somnolent and jaundiced with hepatosplenomegaly and ascites. His LFTs were markedly raised, showing an obstructive pattern (Bilirubin=16mg/dL; ALP=1578U/L; AST=261U/L; ALT=213U/L). On Day-11 of treatment, we received a liver biopsy for HIV cholangiopathy versus drug induced hepatotoxicity. The clinicians considered DH to be a less likely cause since the patient was already on AmpB-Tx. The liver biopsy showed hepatocytes with cholestasis, minimal acute portal inflammation and numerous portal tract and parenchymal macrophages laden with fungal organisms. Gomori-Methenamine-Silver stain confirmed the fungal organisms as being HC. This diagnosis prompted the continuation of AmpB-Tx past 14 days. The patient’s LFT’s reached maximum values of Bilirubin=18mg/dL; ALP=1680U/L; AST=355U/L; ALT=324U/L. After 25 days of AmpB-Tx, his LFT’s trended downwards with a resolution of his hepatic encephalopathy and jaundice. While a 14 day course was initially intended, AmpB-Tx was continued for a total of 28 days until a resolution of symptoms was achieved.

Results (if a Case Study enter NA)
NA.

Conclusion
Our case identifies a patient with progressive hepatic histoplasmosis in spite of AmpB-Tx. Keeping in mind and identifying such cases on pathology can alter the course of treatment for patients.
A rare case of Composite Gangliocytoma/Neuroma and Neuroendocrine Tumor (CoGNET) of the Duodenum - A case report
Authors: Omo-Ogboi A C , Thomas-Ogunniyi J O 
Published: November 2022

Abstract

Introduction/Objective
The unique morphologic and clinical features of neuroendocrine tumors have attracted the attention of physicians, most especially pathologists for more than a century. Neuroendocrine tumor of the duodenum is a rare entity and only accounts for ~ 2% of gastrointestinal neuroendocrine tumors. Though it was initially classified as duodenal gangliocytic paraganglioma due to the presence of sustentacular cells and its association with ganglion cells, it has now been reclassified in 2022 WHO classification as “composite gangliocytoma/neuroma and neuroendocrine tumor (CoGNET) due to its clinical features and immunophenotypic characteristics. Hence, we report a rare case of CoGNET in the duodenum.

Methods/Case Report
We present a 72-year-old female with a past medical history of hypothyroidism, hyperlipidemia, hypertension, deep vein thrombosis, and pulmonary embolism presenting with a 1-day history of abdominal pain and vomiting. Esophagogastroduodenoscopy (EGD) was performed, and it was concerning for a duodenal mass and the specimen was biopsied.

Results (if a Case Study enter NA)
The biopsy consisted of multiple tan-red hemorrhagic soft tissue, which on microscopic examination showed a triphasic histological pattern which includes neuroendocrine cells, spindle-shaped Schwannian/ sustentacular cells, and neuronal ganglion cells. Immunohistochemical stains performed showed the tumor cells are strongly positive for synaptophysin, and chromogranin; moderately positive with AE1/AE3, and patchy positive with S100. Desmin, CD117, DOG-1, CD34, and GATA were all negative in the tumor cells; the Ki-67 proliferative index was 1%. These morphological and immunophenotypic features are consistent with CoGNET.

Conclusion
CoGNET is a rare entity in the gastrointestinal tract especially in the duodenum and given its recent reclassification in 2022 WHO classification; pathologists, surgeons, and physicians need to be aware of such rare entities to improve patient care.
Subtype, Frequency, and Associated Background Histology in Males Diagnosed with Hepatocellular Adenomas: A Single Institution Study
Authors: Irri A , Fiel M I 
Published: November 2022

Abstract

Introduction/Objective
Hepatocellular adenomas (HCAs) are rare, benign hepatic neoplasms arising from noncirrhotic livers, most commonly diagnosed in reproductive-age women using oral contraception with female:male ratio of 10:1. These tumors are also associated with anabolic steroid use, obesity, and diabetes. HCA subtypes and their incidence in the general population are as follows: inflammatory (HCA-I) accounting for approximately 50% of cases, HNF1A- inactivated (HCA-H) in 35-40%, β-catenin-activated (HCA-B) in 10-15%, and unclassified HCA in &lt;5-10%. We aimed to determine HCA subtype frequency in male-only cases and their associated background liver histologies.

Methods/Case Report
We performed a retrospective review of all HCAs diagnosed in males from 2000–June 2022 at Mount Sinai Hospital using keywords “hepatocellular adenomas” and “hepatic adenomas;” a total of 54 cases fulfilled the criteria. Liver biopsies and resection specimens were included; duplicate cases were eliminated, and only those cases with a definitive diagnosis of HCA were included.

Results (if a Case Study enter NA)
There were 31 patients (age range 17-73 years) included with a total number of 41 HCAs (17 from resections and 14 from biopsies). HCA-I comprised 23/31 cases (74%), HCA-H and HCA-B each encompassed 2/31 cases (6%, respectively), one HCA-I had coexistent β-catenin mutation (3%, 1/31), and one unclassified HCA had mixed HCA-I and HCA-H features (3%, 1/31). Twelve cases were diagnosed as HCA without further subtype specification (NOS) (38%). Background liver histology was available in 24 cases. Fatty liver disease (steatosis and steatohepatitis) was found in five cases, of which four were classified as HCA-I. Of seven hepatocellular carcinomas diagnosed, four arose from NOS HCAs with either unremarkable or steatohepatitis backgrounds. Three of five HCA-I showed background nonspecific chronic hepatitis while two had glycogen storage disease. The remaining ten cases had unremarkable liver backgrounds and were found involving all HCA subtypes.

Conclusion
In this cohort of male-only patients, HCA-I was the most common subtype, the frequency of which is significantly higher than is reported in the general population. Only 6% of cases were HNF1A-inactivated and β- catenin-activated, far less than the reported incidence of 35-40% and 10-15%, respectively. Additionally, our findings show that the majority of HCAs had an unremarkable liver background. Further studies are necessary to determine the neoplastic drivers among male patients that develop hepatocellular adenomas.
Jejunal Intussusception Secondary to Large Inflammatory Fibroid Polyp
Authors: Abu-Salah A , Brocken E , Mesa H , Collins K 
Published: November 2022

Abstract

Introduction/Objective
Inflammatory fibroid polyp (IFP) is a benign mesenchymal lesion that can arise throughout the gastrointestinal tract but are most common in the stomach, followed by the ileum and more rarely in the duodenum and jejunum. Clinical manifestations include intestinal obstruction, abdominal pain, intussusception, and bleeding. Histologically these are characterized by submucosal location, bland spindle stromal cells, abundant eosinophils and lack of lineage specific markers.

Methods/Case Report
We report the case of a 68-year-old woman with history of recurrent small bowel obstruction due to Crohn’s disease who presented with jejunal intussusception that required ileocolic resection. Gross examination revealed a 4.2 cm well-circumscribed, lobulated mass with a gray-white and fleshy cut surface. Histologic sections showed a submucosal, nodular proliferation of bland spindle cells embedded within a loose, edematous stroma associated with abundant eosinophils. No hypercellularity, necrosis, hemorrhage, or mitotic figures were identified. Immunohistochemical studies revealed that the lesional cells were positive for vimentin and negative for desmin, SMA, S100, CD1a, CD117, DOG1, ALK, Melan-A, HMB-45, CD34, and STAT6. Ki-67 proliferative index was &lt;1%. The mass was classified as an IFP.

Results (if a Case Study enter NA)
NA

Conclusion
IFPs usually express CD34 and negative cases have been described as atypical IFPs. Activating mutations of PDGFRA appear to define this lesion molecularly and are responsible for the recruitment of eosinophils. PDGFRA mutations have been detected in both CD34 positive and negative cases suggesting they represent variants of the same entity. The putative origin of this lesion is hypothesized to be a distinct type of stromal cell: the telocyte. Surgical excision is curative for symptomatic IFP.
Two Cases of Duodenal Neuroendocrine (Carcinoid) Tumor Concurrent with Invasive Gastric Adenocarcinoma and Pancreatic Intraductal Papillary Mucinous Neoplasm
Authors: Chiu R , Yap C G 
Published: November 2022

Abstract

Introduction/Objective
Neuroendocrine (carcinoid) tumors of the duodenum are extremely rare and account for only 2-4% of gastrointestinal tract neuroendocrine tumors. We report two cases of incidentally discovered duodenal neuroendocrine tumor which respectively occurred in a patient with invasive gastric adenocarcinoma and in a patient with pancreatic intraductal papillary mucinous neoplasm (IPMN).

Methods/Case Report
The first case involved a 60-year old male who presented with melena and symptomatic anemia and was found on EGD to have a large circumferential mass at the gastric antrum/pylorus, which was revealed to be an invasive gastric adenocarcinoma on biopsy. At the time of distal gastrectomy for this malignancy, a concurrent, 0.6 cm-sized, low grade neuroendocrine tumor was incidentally discovered at the duodenal margin. The duodenal tumor consisted of nests and trabeculae of monotonous cells with ovoid/round nuclei, finely speckled “salt and pepper” chromatin, and low mitotic rate (&lt; 2 mitoses/2 mm2), and invaded only into submucosa. The tumor cells were strongly and diffusely positive for neuroendocrine markers chromogranin, synaptophysin, and CD56, positive for CK7 and CDX2, negative for CK20, and with low Ki67 proliferation index (&lt; 3%). The second case involved a 69-year old female who presented with epigastric pain and was found on abdominal CT to have a 4 cm-sized cystic mass in the pancreatic head. While biopsy of the pancreatic mass revealed an IPMN, a separate biopsy of an incidentally discovered, 1 cm-deep ulcer in the duodenum bulb revealed a low-grade neuroendocrine tumor with similar morphologic features, mitotic rate, and immunohistochemical staining pattern as the prior case while also negative for IMP3 stain. The patient had normal serum gastrin and urine HIAA levels, but elevated serum chromogranin-A levels.

Results (if a Case Study enter NA)
NA.

Conclusion
Duodenal carcinoids are rare (1-3% of primary duodenal tumors) and are mostly non-functional and unifocal. The duodenum is also the least common site (2-4%) for GI tract neuroendocrine tumors. The pathophysiology of these tumors is still poorly understood, with the majority occurring sporadically and a minority in the setting of hereditary cancer syndromes. This report documents two very rare instances of duodenal neuroendocrine tumor incidentally discovered with invasive gastric adenocarcinoma and pancreatic IPMN.