bluuebunny/crossref_metadata_2025_split huggingface dataset:
Concordance of Intradepartmental Consultations of Barrett’s Dysplasia
Authors: Chen Fengming , Liu Yongjun , Ruggiero Francesca 
Published: September 2019

Abstract

Introduction
Barrett’s esophagus (BE) is a well-known precursor to esophageal adenocarcinoma (EAC). Simple BE has an annual rate of progression to EAC of only up to 0.5%, while BE with low-grade dysplasia (LGD) or with high-grade dysplasia (HGD) has a higher progression rate of ~10% and ~40%, respectively. Therefore, accurate diagnosis and grading of dysplasia in BE are critical for optimal patient management. However, grading dysplasia is not well defined in practice, which often results in poor interobserver and/or intraobserver reproducibility. In this study, we aim to (1) investigate the concordance of intradepartmental consultations of BE dysplasia and (2) compare consultant diagnosis with final diagnosis and follow-up diagnosis.

Methods
We retrospectively reviewed 856 intradepartmental consultation records obtained from May 2017 to March 2018. For cases of Barrett’s dysplasia in biopsy specimens, H&E-stained slides were re-reviewed and the corresponding clinical information was retrieved from the electronic medical record.

Results
Twenty intradepartmental consultation cases of Barrett’s dysplasia were identified (involving 2 females and 18 males, mean age 67.8 ± 8.6 years, ranging 50-81 years). The most frequent reasons for consultation were indefinite dysplasia (IND) vs LGD and LGD vs HGD. Half of the cases showed concordance between referring pathologist and consultant pathologist(s), while 10% of the case showed a major discrepancy (resulting in significant changes in patient management and/or prognosis) and 40% showed a minor discrepancy (resulting in no significant impact on patient management and/or prognosis). The final diagnoses were changed after consultation for cases with major discrepancy, while 60% of cases with minor discrepancy remained the original diagnoses.

Conclusions
Intradepartmental consultations are strongly recommended for the challenging cases of BE dysplasia, which can effectively prevent over- or underdiagnosis. For challenging cases such as IND vs LGD, two or more consultants are usually needed to reach an agreement.
Retrorectal Cystic Hamartoma (Tail Gut Cyst): An Institutional Experience
Authors: Kaseb Hatem , Zhang Xuchen 
Published: September 2019

Abstract

Objectives
Tailgut cyst (TGC) is a rare congenital benign cystic lesion arising from a remnant of the embryonic postnatal hindgut. TGCs are typically multinodular, uncapsulated, but usually well circumscribed. TGCs are generally rare in adults and the majority of the lesions are benign. Malignant transformation is rare and malignancies reported include adenocarcinomas and neuroendocrine tumors.

Methods
A retrospective database search was conducted and coded as “tailgut cyst or retrorectal cystic hamartoma” to identify cases of possible TGC between January 2005 and January 2019. The search utilized the pathology files of Yale-New Haven Hospital using CoPath laboratory information system. Clinical and surgical data were gathered from the surgical pathology report and surgical operative note when available.

Results
A total of 13 cases (10 women) were identified with a median age of 51 years. All the specimens were obtained by surgical excision. Most of the cases were excised from the presacreal area (11 cases), and two cases were excised from the retrorectal area. The two cases resected from the retrorectal area had a malignant component. The first case was a 33-year-old female who had a 1.5-cm tailgut cyst that showed a multifocal neuroendocrine tumor (carcinoid); the resection margin was also positive. The second case was a 59-year-old female who had a tailgut cyst that showed mucinous adenocarcinoma; the resection margin was also positive.

Conclusion
Diagnosis of tailgut is sometimes challenging. Possible differential diagnoses in this location include teratoma, dermoid cyst, anterior sacral meningocele, and presacral abscess. Imaging is an important component of the initial workup. Surgical resection is the treatment of choice when the cyst grows in size and if a solid component is present. Exclusion of other benign entities and malignant transformation/component on histological examination is crucial.
High-Output (HO) Ostomy With Histopathologic Abnormality: Examination of 78 Stoma Specimens
Authors: Cordeiro-Rudnisky Fernanda , Sheuka Natallia , Lee Edward , Lee Hwajeong 
Published: September 2019

Abstract

Background
HO (>2,000 mL output/day) is a serious complication following ostomy procedure. HO may be associated with variable underlying conditions or idiopathic. We encountered an ileostomy case with diffuse subepithelial collagen deposits resembling collagenous colitis from a patient with history of HO without underlying cause. A subset of idiopathic HO may be associated with histopathologic abnormalities of the bowel.

Methods
Resected stomas from ostomy malfunction were searched using ICD-9 and CPT codes (2003-2018). Archived pathology materials were reviewed and activity, villous blunting, pyloric metaplasia (PM), and subepithelial collagen deposits were assessed. Trichrome stain was performed when necessary. Clinical history was obtained from medical records.

Results
Sixty-one ileostomies and 17 colostomies were retrieved from 69 patients. Types of ostomy malfunction were stricture/obstruction (n = 21), hernia (n = 10), ischemia/necrosis (n = 4), leak (n = 4), abscess/adhesion (n = 3), skin breakdown (n = 3), prolapse (n = 3), retraction (n = 2), reepithelialization (n = 1), and unclear/not specified (n = 15). Thirty-two patients had inflammatory bowel disease (IBD; 19 Crohn disease [CD], 13 ulcerative colitis [UC]). All HOs were from ileostomy, and 16 had risk factors for HO, including IBD (n = 9 [56%]; 7 CD, 2 UC), short bowel (n = 6, 3 with CD), pelvic/intra-abdominal abscess (n = 2), sepsis (n = 2), and prokinetic (n = 1). Five ileostomies from CD showed PM, while 11 lacked significant histologic abnormalities. Among 5 (24%) idiopathic HOs, 1 was the index case with diffuse subepithelial collagen deposits with subtotal villous blunting, 1 showed PM, and 1 had focal activity. Remaining 2 ileostomies from idiopathic HO were unremarkable. Stomas from patients with other types of ostomy malfunction showed compatible histologic changes. Fifteen cases without ostomy malfunction did not show histologic abnormality.

Conclusion
Most HO represents functional abnormality without histopathologic abnormality except in IBD. However, idiopathic HO may be associated with histopathologic abnormalities in the stoma suggestive of acute/chronic enteritis and scarring, which may be underrecognized and treatable.
Hepatic Langerhans Cell Histiocytosis (LCH) Mimicking Antimitochondrial Antibody (AMA)–Negative Primary Biliary Cholangitis (PBC), Presenting as a Harbinger of Multisystem LCH
Authors: Li Hua , Ells Peter , Arslan Mustafa Erdem , Robstad Karl , Lee Hwajeong 
Published: September 2019

Abstract

Objectives
LCH is a rare systemic disorder characterized by an infiltration of CD1a+/Langerin+ histiocytes. LCH commonly involves bone, skin, and lymph nodes in children. Hepatic involvement is rarely observed in multisystem LCH. We describe an exceptional case of hepatic LCH in an adult, mimicking AMA-negative PBC, preceding the diagnosis of multisystem LCH.

Methods
A 65-year-old man presented with intermittent pruritus, weakness, dyspnea, fever, and chills that have been progressive for 4 years. Physical examination was unremarkable. Laboratory work revealed elevated alkaline phosphatase (471 U/L; ref 40-120 U/L), GGT (271 U/L; ref 0-41 U/L), total bilirubin (2.0 mg/dL; ref 0.0-1.2 mg/dL), and direct bilirubin (1.1 mg/dL; ref 0.0-0.3 mg/dL). Indirect bilirubin, AST, and ALT were within normal limits. Liver biopsy was performed.

Results
Liver biopsy showed lobular and portal nonnecrotizing granulomas with one “florid duct lesion” with duct injury, suggestive of PBC. Tests for autoimmune diseases including AMA were negative. ERCP was negative for biliary obstruction. One month after the liver biopsy, he developed flaking, red, and burning rash on the right scalp, forehead, and epigastric skin. A skin biopsy at an outside institution revealed dermal and epidermal infiltration of CD1a-positive histiocytes with indented nuclei and pale eosinophilic cytoplasm, consistent with LCH. Subsequent reexamination of the liver biopsy showed that the histiocytes within the florid duct lesion were positive for CD1a and S-100, while the remaining granulomas were negative. The following day, a small focus of LCH was noted in his gastric biopsy performed for gastritis symptoms.

Conclusion
Hepatic LCH may mimic AMA-negative PBC histologically and clinically, and may present as a harbinger of multisystem LCH. While rendering the diagnosis would be challenging without prior history of LCH and with focal involvement, awareness of such presentation and communication with clinical colleagues may be helpful.
Tubular Entrapment May Be Inconspicuous in Clear Cell Sarcoma of the Kidney in Early Infancy, Compared to Childhood: An In-Depth Case Comparison
Authors: Patel Krutika , Hernandez Sara Avalos , Liu S Shawn , Carter J Elliot , Manci Elizabeth 
Published: September 2019

Abstract

Introduction
Clear cell sarcoma of kidney (CCSK) is a rare malignancy accounting for <0.5% of all primary renal tumors, commonly diagnosed between 2 and 4 years of age and rarely occurring in early infancy. The challenging differentiation between CCSK and blastemal Wilms tumor is important because of the distinct clinical pattern of CCSK to recur and metastasize to bone and brain. The aim of this study is to discern subtle features that could assist pathologists in diagnosing CCSK in infancy.

Method
In-depth comparison of clinical, histological, and immunohistochemical findings in a case of CCSK diagnosed at 5 months of age with two cases of CCSK diagnosed at 2 and 3 years of age.

Results
Both groups were male, and each presented with an abdominal mass. Grossly, a single, firm, well-demarcated tumor, morphologically comprising monotonous small primitive round-to-polygonal/spindle cells, was seen in both groups. The major differences between the study groups were growth patterns and stromal reactions. In infancy, the growth pattern was diffusely uniform sheets of malignant cells with no entrapment of tubules and inconspicuous stromal changes. However, in childhood cases, the growth pattern included well-defined tubular entrapment, as well as focal microcyst formation, myxomatous stroma, palisading bodies, and anaplastic and/or rhabdoid histology. In both study groups, the immunohistochemistry showed strong immunoreactivity with cyclin D1 and nonspecific positivity for vimentin, CD99, and BAF47.

Conclusion
CCSK has notoriously diverse histological heterogeneity and mimics other pediatric renal tumors, making diagnosis treacherous, and commonly erroneous as Wilms tumor with unfavorable histology. Despite the advent of immunohistochemical and molecular techniques, a thorough morphologic analysis remains key in accurately diagnosing CCSK at any age, especially in early infancy. This small in-depth comparison of CCSK by age groups suggests that tubular entrapment and stromal changes may be less conspicuous in CCSK in early infancy than at older ages.
Acute Appendicitis Associated With Schistosoma Species
Authors: Castillo Jesus Rico , Alame Diana , Tuluc Madalina , Nagurney Michelle , Ghusson Noha 
Published: September 2019

Abstract

Objectives
Schistosomiasis is a public health problem in tropical regions of the world, highly endemic in sub-Saharan Africa but uncommon in the United States. It is considered second only to malaria as the most devastating human parasitic diseases, and it is mainly classified as urinary or intestinal. Here we report a rare case of acute appendicitis associated with Schistosoma spp.

Case Presentation
A 28-year-old male presented to our institution in October 2018 with a 2-day history of periumbilical and right lower quadrant abdominal pain associated with nausea, vomiting, fever, and chills. CT scan of the abdomen in the emergency department showed hyperenhancement of the appendix, with an increased diameter of 10 mm and infiltration of the adjacent fat, compatible with appendicitis. The patient was administered intravenous piperacillin-tazobactam and underwent an uncomplicated laparoscopic appendectomy. Histopathological examination of the appendectomy specimen reveals neutrophilic infiltrate of the wall consistent with acute appendicitis, with granulomatous inflammation surrounding parasitic eggs measuring 60 by 37 μm morphologically consistent with Schistosoma spp. within the wall. Additionally, Ziehl-Neelsen stained negative.
Significant travel history included a trip to Lake Malawi approximately 9 years prior to this presentation where he frequently swam in freshwater lakes. He does not recall developing an acute illness associated with this travel.

Discussion
Chronic schistosomiasis is the result of host immune responses to schistosome eggs that become lodged in the capillaries or organs and cause granulomatous reactions. Chronic inflammation can lead to bowel wall ulceration, hyperplasia, and polyposis and, with massive infection, to periportal liver fibrosis, dysuria, and hematuria. Small bowel involvement is very unusual and only rare cases of appendicitis have been reported worldwide. Additionally, Ziehl-Neelsen stained negative favoring other Schistosoma species instead of S mansoni, S intercalatum, or S japonicum. Fortunately, the patient underwent surgery, received praziquantel, and achieved full recovery.
A Rare Case of Sclerosing Variant of Pancreatic Neuroendocrine Tumor-Expressing Glucagon
Authors: Xia Rong , Koloori Maryam Noori , Alshal Mohamed , Dehghani Amir , Xie Qiang , Li Zhonghua 
Published: September 2019

Abstract

Introduction
Sclerosing variant of pancreatic neuroendocrine tumor (PanNET) is a rare variant of PanNET characterized by decreased tumor cellularity and prominent stromal fibrosis, and it is considered associated with serotonin expression. We herein present an unusual case of a sclerosing PanNET expressing glucagon.

Methods
The patient, a 75-year-old woman with refractory diabetes, scaly erythematous skin plaques in the eyelid, bilateral elbows and scalp, and episodes of nausea and poor appetite, presented to emergency department for acute abdominal pain. Abdominal computed tomography showed a 17-mm pancreatic head mass. Endoscopic ultrasound with fine-needle biopsy was performed for histopathological examination, followed by pancreaticoduodenectomy.

Results
Biopsy showed a background of predominantly blood and benign strips of pancreatic parenchyma and scanty fragments of fibrotic hyalinized stroma containing medium-sized atypical monotonous cells with round-to-ovoid nuclei, smooth borders, and inconspicuous nucleoli. These cells were difficult to characterize morphologically due to the scanty sampling. Immunohistochemical stains revealed the atypical cells were positive for AE1/AE2, synaptophysin, chromogranin, and glucagon and negative for insulin, serotonin, and pancreatic polypeptide. The lack of heterogeneous peptide cell composition supported a neoplastic proliferation of neuroendocrine cells. The pancreaticoduodenectomy specimen showed a 1.2-cm white firm mass in the pancreatic head. Histopathological study showed that, in a sclerotic background, the tumor cells grew mostly in trabecular patterns and occasionally in single cells, infiltrating into adjacent pancreatic parenchyma, and showed the same immunoprofile features as in the biopsy specimen. The proliferative index was <3%, supporting the diagnosis of low-grade sclerosing PanNET. The patient recovered well postsurgery. Moreover, the episodes of nausea and loss of appetite improved postsurgery. Patient did not show up for follow-up appointments in the dermatology clinic.

Conclusion
Sclerosing PanNET is challenging for diagnosis, especially on small biopsy specimens. Immunohistochemistry helps establish the diagnosis. Our case demonstrates a rare presentation of sclerosing PanNET expressing glucagon.
Characteristics of Adenocarcinoma of the Gallbladder Following Cholecystectomies in the Hispanic Population
Authors: Gustafson David , Padilla Osvaldo 
Published: September 2019

Abstract

Introduction
Gallbladder adenocarcinoma (GBC) is a rare malignancy. Frequency of incidental adenocarcinoma of the gallbladder in the literature is approximately 0.2% to 3%. Typically, GBC is the most common type and is discovered late, not until significant symptoms develop. Common symptoms include right upper quadrant pain, nausea, anorexia, and jaundice. A number of risk factors in the literature are noted for GBC. These risk factors are also more prevalent in Hispanic populations. This study sought to compare patients with incidental gallbladder adenocarcinomas (IGBC) to those with high preoperative suspicion for GBC. Predictor variables included age, sex, ethnicity, radiologic wall thickening, gross pathology characteristics (wall thickness, stone size, stone number, and tumor size), histologic grade, and staging.

Methods
Cases of GBC were retrospectively analyzed from 2009 through 2017, yielding 21 cases. Data were collected via Cerner EMR of predictor variables noted above. Statistical analysis utilized conditional logistic regression analysis.

Results
The majority of patients were female (n = 20) and Hispanic (n = 19). There were 14 IGBCs and 7 nonincidental GBCs. In contrast with previous research, exact conditional logistic regression analysis revealed no statistically significant findings. For every one-unit increase in AJCC TNM staging, there was a nonsignificant 73% reduction in odds (OR = 0.27) of an incidental finding of gallbladder carcinoma.

Conclusion
This study is important in that it attempts to expand existing literature regarding a rare type of cancer in a unique population, one particularly affected by gallbladder disease. Further studies are needed to increase predictive knowledge of this cancer. Longer studies are needed to examine how predictive power affects patient outcomes. This study reinforces the need for routine pathologic examination of cholecystectomy specimens for cholelithiasis.
Poorly Differentiated Large-Cell Neuroendocrine Carcinoma of the Cecum: A Rare Malignancy
Authors: Rajack Fareed , Afsari Ali , Naab Tammey 
Published: September 2019

Abstract
Poorly differentiated neuroendocrine carcinomas (PDNECs) are rare tumors that can arise anywhere in the gastrointestinal tract. They often present at advanced stage and portend a poor prognosis when compared to adenocarcinomas of the same stage.
A 65-year-old female presented with progressively worsening bilateral proximal muscle weakness of 3 months’ duration. It was associated with fatigue, decreased appetite, and unintentional weight loss (8 lbs). She was also found to have hypercalcemia (serum calcium 12.1 mg/dL), anemia (hemoglobin 9.9 g/L), and abnormal liver panel (Alk phos 336, AST 85, GGTP 737). CT abdomen showed abnormal thickening and mass-like enhancement in the cecum measuring 2.9 × 3.7 cm and an enlarged 22-cm liver with numerous rounded masses, the largest measuring 4.6 × 8.2 cm. Colonoscopy revealed a large ulcerated mass distal to the ileocecal valve and extending to the proximal ascending colon. Histology revealed an ulcerated invasive pleomorphic large cell neoplasm with focal squamous differentiation and a tubular adenoma. Initial positive immunostains were AE1/AE3, CK5, and p63. CK7, CK20, S100, and calretinin were negative. Strong, diffuse expression of synaptophysin confirmed neuroendocrine carcinoma; high Ki-67 (80%) confirmed grade 3. CDX2 and TTF1 were positive but are not lineage specific in PDNECs. A liver biopsy had identical histology with diffuse expression of CD56, another confirmatory neuroendocrine marker. Elevated random urine 5-hydroxyindoleacetic acid (5HIAA) supported the diagnosis. Mismatch repair (MMR) protein immunostains did not reveal deficient MMR.
Colonic NECs are extremely rare, accounting for 0.6% of patients with colorectal carcinoma; of these, only 0.2% are classified as large cell NECs. A panel of immunostains confirms the diagnosis. They most often arise in the cecum or rectum with early liver metastases and median survival of 9 months. Rare cases have responded to checkpoint inhibitors, which may be a therapeutic option.
Prostate Carcinoma With Overlapping Features of Small Cell and Acinar Adenocarcinoma: A Case Report
Authors: Cordeiro-Rudnisky Fernanda , Sun Yue , Saade Rayan 
Published: September 2019

Abstract

Introduction
Prostate neuroendocrine (NE) cells can stimulate prostate adenocarcinoma (PA) cell growth, but occasionally adenocarcinoma cells themselves acquire NE characteristics, a phenomenon known as NE transdifferentiation of prostate adenocarcinoma. During this process, tumor cells acquire small cell-like morphology and become positive for neuroendocrine markers. NE transdifferentiation is associated with decreased androgen receptor (AR) signaling, a mechanism of resistance to AR-targeted treatments.

Case
A 74-year-old male with a history of cirrhosis, splenomegaly, and thrombocytopenia presented with hematuria and urinary obstruction. PSA was 0.31 ng/mL. CT scan demonstrated bladder wall thickening. Surgery showed a bladder tumor, clinically diagnosed as urothelial tumor. Pathology revealed a poorly differentiated carcinoma, with small cell-like morphology. The tumor cells had high nuclear to cytoplasmic ratio, focal nuclear molding, and high mitotic rate, like small cell carcinoma. But the nucleoli were intermediate between small cell carcinoma and usual adenocarcinoma of the prostate. Immunostains showed that the tumor cells were positive for NKX3.1 and focally positive for NE markers, including chromogranin, synaptophysin, INSM1, and FOXA2. The tumor cells were negative for PSA and GATA3. The morphology and immunoprofile are consistent with Gleason pattern 5 PA in transdifferentiation to small cell carcinoma.

Discussion
The incidence of neuroendocrine phenotype is 1% in primary PA and 25% in metastatic castrate-resistant PA. Typically, NE transdifferentiation occurs in response to androgen deprivation therapy/AR inhibitors. Pretreatment NE transdifferentiation is relatively uncommon. PA depends on androgens for its progression, which is the basis for antiandrogen therapy. Decreased AR expression associated with NE transdifferentiation is a mechanism of resistance to AR-targeted therapy. These tumors are often more aggressive with worse prognosis.

Conclusion
Our patient has Gleason pattern 5 PA with NE transdifferentiation invading the bladder, which is a high-grade, aggressive tumor.