bluuebunny/crossref_metadata_2025_split huggingface dataset:
Poorly Differentiated Chordoma with Rhabdoid Features
Authors: Kashi M , Agarwal A , Villanueva J 
Published: October 2020

Abstract
Casestudy: Chordoma is an uncommon primary malignant tumor of the bone showing notochordal differentiation. The current World Health Organization classifies chordoma into three subtypes: conventional, chondroid, and dedifferentiated.
Poorly differentiated chordoma (PDC) is a newly described variant of chordoma, with its own distinct features in terms of age distribution (common in pediatric and young adults), histopathology (lack of physaliphorous cells and chondromyxoid matrix), immunohistochemical and molecular characteristics (loss of SMARCB1/INI1 expression) and clinical outcome (poor prognosis with rapid onset of local recurrence and metastasis).
Herein, we report the case of a 43 year old man with history of fall and injury of tailbone 2 years prior, who presented with pain and swelling at the sacrcoccygeal region and intermittent numbness in the legs. MRI of the pelvis showed a 9.8 cm lobulated mass centered on the sacrum with osseous destruction of S5 through coccyx, with intralesional hemorrhage, and mild heterogeneous enhancement. Biopsy of the sacrococcygeal mass demonstrated a malignant neoplasm composed of lobules of epithelioid cells with abundant eosinophilic cytoplasm showing focal vacuolization, and mild to moderate nuclear pleomorphism with an average 3 mitoses per high power field (400x). Immunohistochemically, the neoplastic cells were positive for pancytokeratin, CAM 5.2, vimentin and brachyury. They had loss of SMARCB1 (INI1) and were negative for S100, CK7, CK20, desmin and actin. The location, imaging studies, morphologic features and immunohistochemical profile were consistent with poorly differentiated chordoma with rhabdoid features. With its specific clinical, morphologic, immunophenotypical, and molecular features, PDC may be recognized as a chordoma subtype in a future WHO classification. According to current knowledge, the diagnosis of PDC should be restricted to cases with brachyury expression (specific for notochord tumors) and INI1 protein loss, especially in tumors of pediatric and young patients, regardless of cellular characteristics.
Isolated Right Ventricular Non-compaction as a Cause of Death in Cornelia de Lange Syndrome
Authors: Youssef B I , Zayko M , Gertsen E 
Published: October 2020

Abstract

Introduction/Objective
We report the case of a 32-year-old white male with a past medical history of bipolar disorder, autistic spectrum disorder, and Cornelia de Lange Syndrome (CdLS), who was admitted to the ED with cardiac arrest. Resuscitative efforts were unsuccessful. The autopsy revealed an isolated right ventricular non-compaction.

Methods
The non-compaction of the ventricular myocardium is a type of cardiomyopathy caused by aberrant embryogenesis, often presenting with other congenital cardiac defects, especially in syndromic patients. Such is the case with Cornelia de Lange Syndrome, in which multiple cardiac anomalies are commonly seen. However, only a few cases of ventricular non-compaction were reported for patients with CdLS. To our knowledge, this is the first case of CdLS with death attributed to the isolated right ventricular non-compaction cardiomyopathy.

Results
CdLS is characterized by intellectual disability, distinctive facial features, growth retardation, hirsutism, and malformation of multiple organ systems. In general, ventricular non-compaction is defined by the persistence of deep intertrabecular recesses that communicate with both the ventricular cavity and the coronary circulation. The two main diagnostic criteria include the absence of well-formed papillary muscles and more than 50% penetration of invaginated endocardial recesses toward the epicardial surface. Additional features include the presence of staghorn shaped endocardial recesses, endomyocardial thickening, and endocardial fibrosis. Clinical diagnosis is based on ECG, echocardiography, and ventricular angiography. Magnetic resonance imaging is also helpful in providing a good correlation with echocardiogram for localization and the extent of non-compaction.

Conclusion
In the general population, the non-compaction involves the left ventricle predominantly. The prevalence of iRVNC remains underestimated, and although echocardiography can aid in the diagnosis, the morphological assessment of RV continues to be difficult and challenging. Pathologists should be aware of non-compaction as a cause of sudden cardiac death in syndromic and non-syndromic patients when performing autopsies.
Metastatic Prostate Adenocarcinoma in Rectal Polyp: A Rare Clinical Presentation
Authors: Singh A , Behl P , Craig R 
Published: October 2020

Abstract

Introduction/Objective
Prostate cancer is known to metastasize to bone, lymph node, lungs, liver, and brain, with the GI tract being an uncommon site of metastasis. More commonly, prostate adenocarcinoma involves GI tract by direct colonic extension. Interestingly, few cases have been reported with metastasis presenting as a GI polyp.

Methods
We herein report a case of 69-year-old African American male who was diagnosed with metastasis of prostate adenocarcinoma presenting as rectal polyp. The patient originally presented with lower urinary tract symptoms. Further examination revealed PSA level of 220. The patient underwent TRUS-guided prostate biopsy which showed prostate adenocarcinoma with Gleason score of 9 (grade group 5). Follow-up CT and radioisotope scans showed direct extension of prostate lesion into bladder, seminal vesicle and rectum. Metastases were noted to right lesser trochanter, L5 vertebra and retroperitoneal lymph nodes. Colonoscopy was performed 1 month after prostate biopsy due to abnormal CT finding of rectal wall thickening. Endoscopy found a single 0.5 mm sessile polyp which was resected by cold snare polypectomy.

Results
Microscopically, a nodule of tubular glands arranged back to back containing pleomorphic cells with large nuclei, prominent nucleoli, and vacuolated cytoplasm was seen underlying normal colonic mucosa. The malignant cells expressed prostate specific antigen (PSA) and phosphate specific acid phosphatase (PSAP). It was negative for CK7 and CDX2, rendering a diagnosis of metastatic prostate adenocarcinoma. Patient is currently receiving androgen deprivation treatment and enzalutamide with future plans for external beam radiation. The germline alteration testing was positive for BRCA2 which is associated with increased risk of prostate cancer.

Conclusion
Albeit rare, it’s important for pathologists to be aware of this entity presenting uncommonly as a rectal polyp, particularly given the history of prostate adenocarcinoma which could be mistaken for colonic adenocarcinoma. In rare cases, tumor seeding following TRUS-guided prostate biopsy has also been implicated.
PD-L1 Expression is Associated with Poorer Survival in Anal Squamous Cell Carcinoma: Analysis from an Urban Public Hospital
Authors: Monsrud A , Avadhani V , Mosunjac M , Krishnamurti U 
Published: October 2020

Abstract

Introduction/Objective
Upregulation of programmed death-ligand 1 (PD-L1), an immunoregulatory protein is associated with adverse outcome in several malignancies. Very few studies have evaluated PD-L1 expression in anal squamous cell carcinoma. This study aims to correlate PD-L1 expression with clinicopathologic factors and clinical outcomes.

Methods
After IRB approval, formalin-fixed, paraffin embedded sections of 58 cases of anal invasive squamous cell carcinoma from 2010–2018 were immunostained for PD-L1 (Dako 22C3 monoclonal antibody). Of these, 51 cases could be evaluated for PD-L1 expression. Greater than 1% of tumor cells with partial or complete membrane staining was interpreted as PD-L1 positive (PD-L1 +). PD-L1 expression was correlated with age, sex, stage, HIV status, HIV viral load, CD4 count, disease progression, and cancer specific survival. Kaplan-Meier curves for overall survival (OS) were plotted and compared using the log rank test. Cox regression analysis was performed to identify significant prognostic factors (Two-tailed p&lt; 0.05 was considered statistically significant).

Results
Of the 51 cases evaluated, PD-L1 was positive in 18/51 (35%) and negative in 33/51 (65%) cases. The median cancer specific survival (MCSS) was lower in PD-L1 positive cases (22 months) compared with PD-L1 negative cases (48 months), p=0.008. The number of cancer specific deaths was higher in the PD-L1 + group (50% vs. 30%), but not statistically significant (p= 0.23). Other factors that were not significantly different between the two groups were age, sex, stage, HIV status, HIV viral load, and number of patients with cancer progression. Patients with positive PD-L1 had worse OS (5yr OS: 41% for PD-L1 positive vs 64% for PD-L1 negative; p=0.02). On multivariate analysis, PD-L1 positive status remained statistically significant for worse OS, HR = 6.5 (95% CI 1.2–33.9), p=0.027.

Conclusion
The median cancer specific survival and 5-yr OS is significantly lower in the PD-L1 positive group. PD-L1 positive status is associated with a worse prognosis independent of stage, HIV status, HIV viral load, and CD4 count. The study highlights the potential of PD-L1 targeted therapy in better management of anal squamous cell carcinoma.
Metronomic Chemotherapy After Palliative Radiotherapy In Rare Soft Tissue Sarcomas; An Insight Into Radiation Therapy And The Immune Response
Authors: Madabhavi I , Sarkar M , Sandeep S , Madabhavi N , Modi M , Naik U 
Published: October 2020

Abstract

Introduction/Objective
Soft tissue sarcomas (STSs) account for less than 1% of the overall human burden of malignant tumors. The intent of treatment in metastatic STSs is palliative and prognosis is dismal. This study aims to evaluate the role of low dose radiotherapy and low dose oral metronomic therapy in heavily pretreated metastatic infrequent STSs.

Methods
This research was conducted in a prospective observational manner in a tertiary care center. A total of 16 cases met the inclusion criteria for enrollment in the study group. The diagnosis of all subtypes of STS was confirmed by histopathology and immunohistochemistry or cytogenetic studies. All the enrolled patients with metastatic STSs who were treated with surgery and two lines of chemotherapy were initially treated with low dose radiotherapy of twenty Gy in five fractions or thirty Gy in ten fractions according to ECOG performance status of the patient.

Results
Out of 16 patients, seven patients (43.75%) were treated with 20Gy, 5# and 9 patients (56.25%) were treated with 30Gy, 10 # radiotherapy (RT). Out of 16 patients, four were of malignant fibrohistiocytic sarcoma, three were angiosarcoma, three were malignant phylloides tumor of the breast, and two were fibrosarcoma. One patient from each of the following subtypes inflammatory myofiroblastic tumor, leiomyosarcoma, synovial sarcoma, and dermato fibrosarcoma protuberance. Out of 16 patients, seven (43.75%) had a partial response (PR), nine (56.25%) had stable disease (SD) at 3 months and all the patients had stable disease (SD) at 6 months of evaluation. All the patients had enjoyed a better quality of life as compared to their life during injectable chemotherapy.

Conclusion
Targeted low dose radiation and metronomic chemotherapy lead to quantifiable antiangiogenic effects, immune effects in the local tumor microenvironment, and influences circulating immune mediators and anti- angiogenesis that could potentially help eradicate disease both within and outside the radiation treatment field.
Metastatic Malignant Peripheral Nerve Sheath Tumor to the Brain Demonstrating Clonal Evolution by Cytogenetic Analysis
Authors: Suddock J T , Broehm C J , SantaCruz K S 
Published: October 2020

Abstract
Casestudy: Malignant Peripheral Nerve Sheath Tumors (MPNSTs) are aggressive, uncommon soft tissue sarcomas that arise from peripheral nerves or pre-existing benign nerve sheath tumors. Local recurrence and metastases are known to occur, though metastasis to the brain is very rare. Limited treatment options impart the need to better characterize these tumors. We present a case of a 26-year-old female with a history of a 5.5 cm MPNST of the left chest, who presented with brain metastasis two years later. The tumors were found to have similar histologic and cytogenetic findings with clonal evolution evident in the metastasis. The original tumor exhibited a proliferation of spindled cells arranged in sweeping fascicles accompanied by numerous mitotic figures and areas of geographic necrosis. The malignant cells were patchy positive for S100 and CD34 and negative for SOX10 and GFAP. Cytogenetic analysis revealed three related abnormal clones, all of which demonstrated add(2)(p25) and add(22)(q12). Monosomy 6 was identified in one clone, and near triploidy and triploidy was identified in the other two clones. Additionally, numerous whole chromosome gains and losses were present. The patient underwent surgical resection and was treated with adjuvant radiation. Two years later, a PET scan revealed a hypermetabolic left temporal lobe mass. MRI revealed a 4.9 x 4.5 cm destructive lesion invading through the temporal bone and involving brain parenchyma. The mass was resected and submitted for pathologic evaluation revealing similar histologic findings to the original, though S100 and SOX-10 were negative. Cytogenetic analysis revealed two related abnormal clones which shared add(2)(p25) and add(22)(q12) as well as an additional copy of add(22)(q12). One clone showed near triploidy with loss of several whole chromosomes. These findings are remarkable for recurrent metastatic disease to the brain and uniquely show clonal evolution of the metastatic tumor.
Coexistence of Microsatellite Stable (MSS) and Instable Colorectal Cancer (CRC) Primary Colon Cancers: A Case Report and Brief Review of Literature
Authors: Wassimi S 
Published: October 2020

Abstract

Introduction/Objective
Microsatellite stable (MSS) and Instable colorectal cancer (CRC) as primary colon cancers differ in their pathological features and biological behavior including response to treatment. In general, MSI-high CRC has a better prognosis and a more favorable response to treatment. To our knowledge, the co-occurrence of the microsatellite stable and unstable CRCs in the same person has not been reported in the literature. Herein, we present the case report of 78 year African American female who presented to us with this condition.

Methods
A literature search of publication up to March 2020 in PubMed was conducted on the occurrence of microsatellite stable and unstable CRCs in the same individual. The literature search was limited to English language only. The following words were used in the search engine of PubMed: “Microsatellite stable colorectal cancer + unstable colorectal cancer and colorectal cancer + same patient”. No articles were identified.

Results
A search using the terms “coexistence of MSS and MSI CRC in the same individual” identified 45 articles. No case report or article discussing the presence of coexisting MSS and MSI CRC in the same individual was identified

Conclusion
Identification of MSI CRC is important, as MSI may serve as a screening tool for detecting Lynch Syndrome, a prognostic marker for patient outcome, and as a predictive marker for response to chemotherapy and to immunotherapy. Whether coexistence of MSI and MSS favorably affects the prognosis of the disease is unknown.
High-Grade Uterine Sarcoma with BCOR Internal Tandem Duplication Presenting With Total Uterine Inversion
Authors: Greenwell T J , Kumar S , Hysell C 
Published: October 2020

Abstract
Casestudy: High-grade uterine sarcomas are rare mesenchymal tumors in which the underlying genetics of many have been recently elucidated. BCOR internal tandem duplications are present in a subset of high-grade uterine sarcomas. We report a diagnostically challenging case of a high-grade uterine sarcoma with a BCOR internal tandem duplication presenting with total uterine inversion. The case is that of a 24 year old G0P0 female with a four month history of intermittent diffuse abdominal pain and abnormal uterine bleeding. Pelvic examination revealed a mass protruding to the hymenal ring. The patient was suspected of having a prolapsed fibroid through the cervix, and a myomectomy was planned. During the procedure, total uterine inversion was noted as a result of a submucosal mass emanating from the uterine apex. The mass was removed off a broad base using sharp dissection, and the uterus was reverted in a subsequent procedure. Grossly, the mass was polypoid, rubbery, and measured 7 cm in greatest dimension. It was grey-white to red-brown, variegated, and fibrotic with focal hemorrhagic areas.
Histologically, the neoplasm had variable cellularity with spindle cells and a myxoid background. There was diffuse mild to moderate cytologic atypia and areas of increased mitotic activity. Tongue-like growth was present at the interface of the tumor with the normal myometrium. The neoplastic cells showed strong immunoreactivity for cyclin D1, BCOR, and TRK. There was focal immunoreactivity for CD10, and ALK was negative. Next-generation sequencing was performed and demonstrated an insertion into the BCOR gene, consistent with a diagnosis of high- grade uterine sarcoma with BCOR internal tandem duplication. In conclusion, we report an interesting presentation of a high-grade uterine sarcoma with BCOR internal tandem duplication causing total uterine inversion. The morphologic features and immunohistochemical profile suggested the possibility of the entity, and next generation sequencing confirmed the diagnosis.
A Fatal Case of Pediatric Primary Myxoid Liposarcoma of the Orbit: A Rare Tumor in an Unusual Location Presenting with Widespread Metastasis
Authors: Baqir A , Xie Q 
Published: October 2020

Abstract

Introduction/Objective
A liposarcoma is a tumor derived from primitive mesenchymal cells undergoing adipose differentiation. Liposarcomas are uncommon in childhood, representing only about 2% of childhood sarcomas. Among liposarcomas, is a very rare subtype, the so-called ‘pleomorphic myxoid liposarcoma’ which has extensive myxoid changes and scattered pleomorphic cells. Here we report an autopsy case of an extensively metastatic pleomorphic myxoid liposarcoma.

Methods
A 12 year-old, African-American boy presented in the ED with ascites and shortness of breath, who later expired despite resuscitation. Autopsy finding showed a primary lesion in the left superior orbital fissure with diffuse metastasis to liver, replacing most of the liver parenchyma (liver weigh 8500 g). Metastatic foci are also present in gallbladder, pancreas, large intestine, bilateral lungs, and inner and outer surfaces of cranium. Histologically, tumor at all sites shows similar morphology, revealing scattered pleomorphic lipoblasts and a myxoid background with arborizing vasculature. Lipoblasts show indented and distorted nuclei and cytoplasmic vacuoles.
Immunohistochemically the tumor cells are immunoreactive for p16 (diffusely and strongly) (Figure, D) and S100 (weakly) and negative for AE1/AE3, myogenin, synaptophysin, GFAP, EMA, and CD34. FISH was negative for MDM2 and t(12;16)(q13;p11.2) FUS-DDIT3 rearrangement, ruling out conventional myxoid liposarcoma.

Conclusion
This case shows the aggressive nature of a poorly studied entity in an uncommon age group and emphasize the need to study childhood liposarcomas in more detail.
Evaluation Of The Carcinoembryonic Antigen Test In Patients With Resected Colon Cancer
Authors: Kamel Y S , Lotfy A 
Published: October 2020

Abstract

Introduction/Objective
To determine the effectiveness of carcinoembryonic antigen (CEA) in patient with known residual disease after resection of colonic cancer

Methods
Serial carcinoembryonic antigen (CEA) levels were measured in 43 patients following incomplete excision of colorectal cancer. Twenty-seven patients received chemotherapy. The patients reported in this study were amongst those participating in a randomized trial of chemotherapy following palliative resection of colorectal cancer. All patients had a resection of colorectal cancer leaving behind macroscopic quantities of tumour, though of a small total residual bulk. The residual sites of tumour were recorded as: (a) local - where there was local extension of the tumour; (b) nodal - where there were clinically involved nodes remaining, with histological confirmation of involved nodes in the resected specimen; (c) hepatic - where small hepatic metastases were noted, individually not greater than 2 cm in diameter and in total representing less than 10% of the liver bulk; (d) peritoneal - where peritoneal tumour seedlings remained, with histological confirmation of at least one of the seedlings.

Results
Of the 43 patients studied after operation and prior to chemotherapy, the mean log CEA was 1.19 and only 3 patients exceeded 1.48, despite the fact that all patients were known to have residual tumour. Similarly, the mean log CEA at 3 months for the total group remained at 1.26 but 6 patients now had abnormal values. Thereafter the mean values of the total group exceeded the upper limit of normality and increasing numbers of patients showed elevated CEA values. About one half of the patients had levels of CEA well within the normal range during the first postoperative year despite the evidence of residual disease documented at operation.

Conclusion
The most appropriate application for a marker such as CEA may be as an assessment of the effect of chemotherapy in patients who have a definite, but objectively unmeasurable, tumour load.