bluuebunny/crossref_metadata_2025_split huggingface dataset:
Analysis of Amplified Genes in Samples of Pleomorphic Adenoma and Carcinoma Ex Pleomorphic Adenoma by CGH-Array Technique
Authors: Egal Erika , Sabino Welligton , Scarini João , Souza Reydson , Altemani Albina , Tincani Alfio , Del Negro Andre , Kowaski Luiz Paulo , Mariano Fernanda 
Published: September 2019

Abstract

Introduction
Pleomorphic adenoma (PA) is a benign lesion of the salivary glands that can suffer malignant transformation to carcinoma ex adenoma pleomorphic (CXPA). The pathogenesis of CXPA has been attributed to the accumulation of genetic disorders in preexisting PAs. However, there is no confirmation whether there is a common target gene involved in all histopathological subtypes or the decisive factors for malignant transformation in a histopathological subtype are specific.

Objectives
To further analyze genes found in PA and CXPA using the CGH-array technique. The genes found were analyzed using the InteractiVenn virtual tool (http://www.interactivenn.net/) and grouped into a Microsoft Excel worksheet.
Results: Of the 460 genes amplified in the studied samples, 287 (62.4%) were related only to CXPA, whereas 144 (31.3%) were related to residual PA. Twenty-nine (6.3%) of these genes were common between residual PA and CXPA. Regarding the degree of invasion of CXPA, there was an increase in the number of genes amplified as the degree of invasion and aggression increased: 8 genes related to intracapsular CXPA, 65 to minimally invasive CXPA, and 373 to weakly invasive. Moreover, when comparing residual AP and intracapsular CXPA, two genes were common to these groups: ERRB2 and GRB7. As for the histological subtype, the high-grade samples had more amplifications (320 amplified genes) than the low-grade ones (129 genes). Three of these genes were common among residual PAs and CXPA: HMGA2, RPSAP52, and LOC100129940. As for the replicates, MYNC, ERBB2, BRIP1, and HMGA2 were the most repeated amplified genes in the residual PAs. HMGA2, ERRBB2, CDK12, RPSAP52, LOC100129940, and LOC100507250 were the genes with the most replicates in CXPA.

Conclusion
HMGA2, ERRB2, and RPSAP52 may play a key role in PA carcinogenesis, whereas GRB7, CDK12, MYNC, and BRIP1 appear to act as coadjutants.
An Unusual Intracranial Collision Tumor of Anaplastic Ependymoma and Atypical Meningioma
Authors: Harb Zainab , Moral Luis 
Published: September 2019

Abstract
The close geographic association of two or more synchronous primary brain tumors is an unusual occurrence. There are around 50 case reports of these intracranial collision tumors, mostly consisting of malignant astrocytoma (mainly glioblastoma) and meningioma. We present a rare intracranial collision tumor consisting of anaplastic ependymoma and atypical meningioma. To our knowledge, this is the first reported case of intracranial collision tumor with this combination. The patient is a 33-year-old gentleman who presented 2 years ago with new-onset intermittent headaches with increasing severity and associated blurry vision and vomiting. On imaging, he was found to have a 4.2 × 4.1 × 4.1-cm cystic-solid and heterogeneously enhancing extra-axial mass lesion in the left frontal lobe, with an enhancing dural tail. Histologic examination of the surgically excised lesion showed two geographically distinct areas of an extra-axial atypical meningioma (World Health Organization grade II) and an intra-axial anaplastic ependymoma (World Health Organization grade III). The anaplastic ependymoma component showed increased cellularity, pseudorosettes, microvascular proliferation, necrosis, and increased mitoses. It was diffusely positive for GFAP and had a Ki-67 proliferation index of 40%. The atypical meningioma showed 5 mitoses per 10 high-power fields. It had a membranous EMA immunoreaction and a Ki-67 proliferation index of approximately 20%. Recently, the patient had a recurrence of the anaplastic ependymoma component only. So far, no clear explanation has been found in the literature to understand the mechanisms leading to collision tumors. Since our patient does not appear to have any syndrome, it may represent a sporadic phenomenon; however, the sharing of a common oncogenic insult or any underlying molecular/genetic mechanism leading to synchronous tumorigenesis remains to be elucidated in this case.
Succinate Dehydrogenase–Deficient Renal Cell Carcinoma With Sarcomatoid Features
Authors: Erickson Kaia , Lynch Douglas 
Published: September 2019

Abstract
Succinate dehydrogenase (SDH) complex deficiency syndrome is an autosomal dominant syndrome with mutations in the SDH gene characterized by multiple tumor types, including paragangliomas, pheochromocytomas, gastrointestinal stromal tumors, thyroid tumors, testicular seminoma, neuroblastomas, and, less commonly, renal cell carcinoma. SDH-deficient renal cell carcinoma is a distinct and rare subtype of renal cell carcinoma, typically with a good prognosis, that demonstrates histologic features including cytoplasmic inclusions and vacuoles with a loss of SDH subunit B immunostaining. We present a case of succinate dehydrogenase–deficient renal cell carcinoma with sarcomatoid features in a 24-year-old male who initially presented with hematuria and flank pain. An MRI of the abdomen showed a large enhancing mass in the upper pole of the kidney. He underwent a radical nephrectomy and was found to have an 11.0 × 10.5 × 10.2-cm variegated and lobular mass in the upper pole of the kidney. Microscopic examination showed sheets of cells with cleared out cytoplasm, cytoplasmic inclusions, and vacuoles. Areas of the mass showed sarcomatoid features and necrosis. The mass extended into the pelvicalyceal system and metastasized to the adrenal gland. An SDH B immunostain was performed on the specimen and was negative, confirming the diagnosis of SDH-deficient renal cell carcinoma. Subsequently, the patient underwent genetic testing and was found to have an SDHB germline mutation.
Jejunal Atresia Associated With Intramural Calcification in a Newborn
Authors: Mirza Rusella , Mercado Juan 
Published: September 2019

Abstract

Objectives
Jejunal atresia and associated intramural calcification are a rare phenomenon, only few cases have been reported. Jejunal atresia is an antenatal developmental defect causing intestinal obstruction in newborns. In most of the cases, the condition is diagnosed by fetal ultrasound during the period of third trimester. We are reporting a case of neonatal jejunal atresia associated with intramural calcification and extensive foreign body reaction.

Methods
A baby girl was born at a gestational age of 36 weeks, 4 days through spontaneous vaginal delivery with a weight of 2.99 kg. The significant maternal history was gestational diabetes. The baby was diagnosed with jejunal atresia by antenatal ultrasound and received gastric suction immediately after delivery. About 200 mL of dark green fluid was suctioned from the stomach. Postnatal x-ray demonstrated significant distension of bowel loops and stomach. The baby underwent exploratory laparotomy with congenital atresia repair. Morphologically, the proximal portion of jejunum was dilated and small portion of distal segment of jejunum appeared to have type IIIB atresia. The atretic portion was examined grossly and processed as paraffin-embedded tissue for microscopic examination.

Results
The atretic segment was about 1 cm long, the serosal surface demonstrated foci of hemorrhage, and the wall was thickened. Microscopically, the atretic segment and adjacent area showed chronic inflammation, extensive foreign body type giant cell reaction, and abundant intramural calcification.

Conclusion
Some hypothesize that intramural calcification in conjunction with foreign body giant cell reaction associated with multifactorial events including vascular insults during the prenatal period. However, there are no studies directed to elucidate the precise pathogenesis of this combination of findings in the intramural location.
Intestinal Neuronal Dysplasia Type B: Timely Diagnosis and Management
Authors: Deerwester Mona , Drexler Steven 
Published: September 2019

Abstract
A 23-year-old female presented to the emergency department with abdominal pain and constipation. She reported an extensive history of constipation. Imaging showed distended bowel without an obstruction. During laparotomy, no obvious mechanical cause was found and a total colectomy was performed. Gross examination of the colectomy specimen showed cobblestoning in a 10-cm portion of the colon. Microscopic examination demonstrated hypoganglionosis of the myenteric plexus, hyperganglionosis of Auerbach’s plexus, and “giant ganglia.” This case met the 2006 Meier-Ruge criteria and diagnosis of intestinal neuronal dysplasia (IND) was established.
IND was first described in 1971. The frequency of IND varies widely due to lack of consensus of diagnostic criteria and has a geographic distribution with the highest rates in Europe, which correlates to published research in this region. Diagnostic criteria are controversial and require standardization. Meier-Ruge suggests a quantitative analysis of the number of ganglion cells in the submucosal plexuses and the identification of at least 20% giant ganglia with at least 8 neurons each, in 25 analyzed ganglia. More recent diagnostic criteria are conservative with differences, including (1) elimination of increased AChE-positive nerve ﬁbers around submucosal blood vessels, (2) stipulation that a giant ganglion contains more than 8 ganglion cells, (3) the requirement that more than 20% of at least 25 ganglia be giant ganglia, and (4) diagnostic exclusion of patients <1 year. Clinical management is also controversial. Schimpl et al reported satisfactory results in 80% of 105 patients treated with dietary changes, cisapride, and laxatives with a median 7.2 years follow-up. Since colonic peristalsis is impaired by dysganglionosis, subtotal colectomy procedures have been widely successful. Clinicians should be mindful of IND in patients with a history of chronic constipation with abdominal pain and nonspecific imaging, as timely diagnosis can spare the patient from total colectomy and improve quality of life.
Diagnostic Dilemma of Epithelial Signet Ring Cells in Calculous Cholecystitis
Authors: Afsari Ali , Naab Tammey , Hassan Muhammad 
Published: September 2019

Abstract
Classic neoplastic signet ring cells are characterized by peripheral nuclear displacement by accumulation of cytoplasmic mucin in some adenocarcinomas. However, epithelial nonneoplastic signet ring cells may accumulate in the setting of mucosal erosion and ischemia as a reactive change of damaged columnar mucosa. Nonneoplastic signet ring cells may also occur as part of an inflammatory reaction due to histiocytes with signet-ring cell mucicarminophilia.
A 58-year-old female presented with a 3-day history of increasing right upper quadrant abdominal pain. MRI showed distended gallbladder with 2 large stones, thickening of the gallbladder wall, and pericholecystic edema, consistent with acute cholecystitis. Laparoscopic cholecystectomy revealed a 15 × 6.0 × 3.5-cm gallbladder with eroded fundic mucosa, marked wall thickening (2 cm), and two intraluminal yellow stones, measuring 2.5 cm and 2.2. cm in diameter, respectively. The differential diagnosis included incidental gallbladder adenocarcinoma. Clusters of signet ring cells were seen in the fibrinous debris and were focally present in the superficial lamina propria. Intestinal metaplasia but no dysplasia was also observed. Loose clusters of pancytokeratin-positive, CD68-negative signet ring cells contained intracytoplasmic mucicarmine-positive mucin. Negative p53, low Ki-67, and positive E-cadherin supported the diagnosis of reactive signet ring cells. Deeply infiltrating pancytokeratin-positive epithelial cells were not identified. Final diagnosis was acute and chronic calculous cholecystitis with mucosal erosion and reactive signet ring cell epithelial change.
Nonneoplastic epithelial signet ring cells may represent a diagnostic pitfall in chronically inflamed and eroded columnar cell mucosa of the gallbladder. A panel of immunostains and evaluation for cytologic atypia and unequivocal invasion are most helpful in differentiating this unusual reactive epithelial change, which occurs in response to inflammation, erosion, and/or ischemia, from signet ring cell carcinoma.
Ten Years Audit of Neoplastic Colorectal Polyps at Lagos University Teaching Hospital, Nigeria
Authors: Adedotun Adebayo , Odukoya Lateef , Badmos Kabir 
Published: September 2019

Abstract

Introduction
Death from colorectal cancer is still a major concern in low- and middle-income countries. According to GLOBOCAN 2018 report, 1,096,601 new cases of colorectal cancer were reported worldwide and about 551,269 would die from the disease process. Colorectal cancer is the fifth most common cancer and accounts for 5.8% of all new cases seen annually in Nigeria. It has been shown incontrovertibly that neoplastic polyps are precursors to adenocarcinomas, even though the rate is lower among blacks.
The increasing awareness and availability of colonoscopy in Nigeria have resulted in an increased volume of colonic biopsy for histopathologic examination. This has resulted in increased frequency of detection of colorectal neoplastic polyps.

Aim
This study aims at auditing colorectal neoplastic polyps histopathologic reporting in Lagos University Teaching Hospital over a 10-year period (2009-2018).

Methods
All reports of colorectal polyps within the study period (2008-2018) were retrieved from the departmental database. The histologic type, microscopic dimensions, and anatomic locations of these polyps were documented and analyzed.

Results
Seventy-two colorectal neoplastic polyps were reported with an M:F ratio of 2:1. The peak incidence was in the fifth decade, with 98% of the polyps in the colon. A breakdown of the adenomatous polyps showed that most (66.7%) were tubular, and 33.2% were tubulovillous adenoma and a case of villous adenoma. Majority of the lesions had low-grade dysplasia while 30% had high-grade dysplasia. There was no mention of excision margins, and in some cases, the biopsy site was not stated.

Conclusion
Some of these polyps, particularly those with high-grade dysplasia, may likely progress to colorectal carcinoma following the adenoma-carcinoma sequence. Epidemiological data of precursor lesions are relevant as an accurate predictor of colorectal cancer incidence in the coming decade and as a determinant in the evaluation of screening and surveillance practices.
Sudden Death of a 22-Year-Old Female Attributed to Complications of a Colloid Cyst in the Third Ventricle
Authors: Wu Gary , Hammers Jennifer 
Published: September 2019

Abstract
Colloid cysts are rare lesions that account for up to 2% of all intracranial tumors. They are commonly found posterior to the foramen of Monro in the third ventricle and classified as benign lesions due to their slow-growing nature. Diagnosis of colloid cysts are often incidental finds on diagnostic imaging or at autopsy. The strategic location of these cysts primary causes gradual or acute hydrocephalus, as evidenced by flattened gyri and deepened sulci on MRI, nausea, vomiting, and papilledema. Enlargement of the cyst itself can cause a mass effect, which commonly presents with symptoms of ataxia, memory loss, and rapid neurologic deterioration. Microsurgery, endoscopic removal, and stereotactic aspiration are cited to be the most commonly employed treatments in the management of colloid cysts. However, there is no one procedure better than another; the benefits and limitations of several procedures are discussed. Treatment of choice is weighed by clinical judgment and surgical experience that vary between neurosurgeons. Although benign, colloid cysts rarely but can lead to sudden death. Therefore, it is important to consider colloid cysts and other intracranial tumors on the differential diagnosis when presented with acute hydrocephalus and papilledema. We report a case of sudden death in a 22-year-old black female due to obstructive hydrocephalus by a colloid cyst in the third ventricle.
Observations of the Morphological Evolution of Neuronal Intranuclear Rods in the Human Substantia Nigra Across the Age Spectrum
Authors: Khan Osama , Capitano Mario , Fan Susan , Woulfe John 
Published: September 2019

Abstract

Objectives
Parkinson’s disease (PD) is a neurodegenerative disease characterized by a depletion of dopaminergic neurons in the substansia nigra (SN). Loss of SN neurons occurs at a rate of up to 10% per decade in nonpathological aging. Other age-related changes in nigral neurons include accumulation of intranuclear inclusions called Marinesco bodies (MBs). MBs have been shown to associate with a distinct type of neuronal intranuclear body called the intranuclear rod (INR). At what point in the aging process INRs develop, and when they give rise to MBs, are questions that remain unanswered. In this observational study, we set out to determine whether SN INRs display changes in their morphology across the human age spectrum.

Methods
The laboratory information system was searched for hospital and forensic autopsies conducted from 2010-2017 that had midbrain sections taken. Ten slides were cut from each of 11 age groups from ages ranging from 1 month to 80 years of age. Sections were immunostained with glucocorticoid receptor (GR) to identify INRs.

Results
There was a progressive age-associated transition in INR morphology from long, linear intranuclear structures in the youngest age groups (infants), to shorter linear structures at middle ages, culminating in small, dot-like juxtanucleolar structures in elderly subjects. A proportion of short INRs displayed contact with MBs in the middle age groups.

Conclusion
We demonstrated a striking progressive, age-dependent alteration in INR morphology. These results suggest that INRs give rise to MBs in the SN during middle ages. As a follow-up of this preliminary observational study, quantitative analysis of INR frequency and size is currently being performed in our lab. Ultimately, we plan to expand our cases for the creation of a human SN tissue microarray, which we hope will shed light on the cellular mechanisms of neuronal ageing and degeneration in the SN.
Trichomonas Vaginalis (TV) Infection and Its Association With Risk of Cervical Cancer and HPV Status
Authors: Rai Herleen , Dahoud Wissam 
Published: September 2019

Abstract

Background
The prevalence of trichomonas vaginalis (TV) infection is low in developed countries and may be due to its incidental diagnosis and treatment during routine screening. Many countries are adopting a new model based on testing for high-risk (HR) human papillomavirus (HPV) instead of cytology. HPV is known to be associated with squamous intraepithelial lesions (SIL). There is limited and conflicting literature on the relationship between TV and SIL. The aim of this study is to determine the prevalence of TV in different age groups and evaluate the association between TV with SIL, BV (bacterial vaginosis), and HPV infection.

Design
Retrospective study for cytological histologic correlation was performed on 10,546 cases dated between January 2012 and December 2017. HPV results were available in 7,081 cases.

Results
The age range was 15 to 84 with a mean of 49 years; 249 patients were TV positive (2.3%). The prevalence was highest in 30 to 65 age group (71.5%). HPV was present in 4,386/7,081 cases (61.9%). The associated between TV and HPV infection was not significant (P < .07). There was a significant association between TV and BV infection (P < .001). In total, 4,649/10,546 patients showed squamous abnormalities (44%), of which 52.6% were TV positive and 43.9% were TV negative. CIN2-3/SCC was significantly greater in TV-positive versus TV-negative patients (P < .007). HPV-positive patients that were TV positive showed more squamous abnormalities than those that were TV negative (P < .043). TV-positive patients with ASCH showed higher grade lesions (CIN2-3/SCC) on follow-up than TV-negative patients (P < .003).

Conclusion
TV is more common among patients with BV and HPV infection and significantly associated with squamous abnormalities. HPV and ASCH patients with TV showed significant squamous abnormalities. Although TV can be detected incidentally through cytology-based cervical screening, a transition to HPV testing is likely to result in increasing TV prevalence over time.
Tumor-Associated Macrophages Show Consistent Upregulation of Programmed Death-Ligand 1 in Extranodal NK/T-Cell Lymphoma, Nasal Type
Authors: Bernabeu Belen Quereda , Uppal Guldeep , Gong Jerald 
Published: September 2019

Abstract

Objectives
It has been reported that EBV-related lymphomas frequently induce PD-1/PD-L1 upregulation as an adaptive mechanism for tumor immune evasion. Extranodal NK/T-cell lymphomas are strongly associated with EBV infection. We analyzed PD-1/PD-L1 expression in extranodal NK/T-cell lymphoma, nasal type.

Methods
We retrospectively analyzed 11 cases of extranodal NK/T-cell lymphoma, nasal type, diagnosed between 2004 and 2017. Immunohistochemical staining for PD-1 and PD-L1 was performed, and expression was evaluated in tumor cells (TCs) and stromal cells (SCs). Staining of >30% of TCs and >20% of SCs were considered positive. Patient charts were reviewed.

Results
Mean age at diagnosis was 55.6 years (25-81). There were seven males (63.6%) and four females (36.4%). Ten cases (90.9%) were EBV positive (EBER-ISH) and one case (9.1%) was EBV negative. All cases were positive for PD-L1 in SCs, which were tumor-associated macrophages (TAMs) in almost all cases. Two cases (18.2%) also showed PD-L1 overexpression in the TCs. Of these, one case recurred 3 years after diagnosis, with identical PD-1/PD-L1 expression. The other case was lost to follow-up. The remaining nine cases (81.8%) were negative for PD-L1, including the EBV-negative case. All cases were negative for PD-1 in both TCs and SCs. Follow-up information was available for eight patients. Treatments were markedly heterogeneous. None of them received targeted PD-1/PD-L1 blockade. Four patients had no evidence of disease at last follow-up (mean age: 38.3 years). Four patients were deceased or receiving palliative care (mean age: 64.2 years).

Conclusion
In our series of extranodal NK/T-cell lymphoma cases, we observed high frequency of PD-L1 upregulation in TAMs. There was low frequency of PD-L1 upregulation in TCs (18.2%), unlike what has been reported in some studies from Asia (up to 80%). Notably, most of these studies used a cutoff of >5%. All our cases lacked PD-1 expression in both TCs and SCs.