bluuebunny/crossref_metadata_2025_split huggingface dataset:
Synchronous bilateral pheochromocytomas and extra-adrenal paragangliomas without specific gene mutations
Authors: Bharadwaj H , Khan A 
Published: October 2021

Abstract

Introduction/Objective
Diagnosis of hereditary paraganglioma-pheochromocytoma syndrome (H-PGL/PCC-S) should be suspected in individuals with pheochromocytoma or paraganglioma, especially those with multifocal lesions, positive family history, or early-onset disease. Recent studies suggest one-third to half of these patients have germline/syndromic associations. We present a challenging case wherein a 44-year-old female with high-risk factors, multiple paragangliomas, and bilateral pheochromocytomas did not have any identifiable syndromic involvement.

Methods/Case Report
Patient presented seven years ago with epigastric pain, weight loss of 50lbs, and chronic diarrhea. Endoscopic ultrasound revealed 2cm hypoechoic mass behind pancreas, diagnosed as neuroendocrine tumor on fine-needle aspiration. Subsequent SPECT-CT and MRI revealed multiple intra-abdominal lesions, including bilateral adrenal-lesions (right 2cm; left 1.6cm), 2.2cm aortocaval-lesion, and multifocal retroperitoneal lesions, consistent with paragangliomas, gradually increasing in size on follow-up imaging. She also developed intermittent palpitations, flushing, and blood pressure fluctuations. Additionally, multiple thyroid nodules were identified on subsequent ultrasound imaging, suspicious for malignancy on both cytology and Afirma studies. Exploratory laparotomy with left para-adrenal, right infra-renal, and aortocaval nodule-excisions revealed nested tumor cells with abundant granular purple cytoplasm, round central nuclei, prominent nucleoli, diagnosed as moderate to poorly differentiated extra-adrenal paragangliomas with increased metastatic risk based on PASS and GAPP-scoring systems. Additionally, right adrenalectomy revealed pheochromocytoma with 7/20 PASS-score and 4/10 GAPP-score suggesting increased metastatic risk.

Results (if a Case Study enter NA)
NA

Conclusion
Young age, strong family-history, multiple high-grade paragangliomas, pheochromocytomas, and suspicious thyroid nodules raise concerns for syndromic association. Multitude of autosomal-dominant syndromes, including paraganglioma-syndromes (PGL1-to PGL5), VHL, MEN2A, MEN2B, and NF1, have been reported. Genes identified in these syndromes include SDHA, SDHB, SDHC, SDHD, SDHAF2, MAX, TMEM127, VHL, NF1, RET, FH, and KIF1B. However, no mutations were identified, thus creating a dilemma in risk-stratification. This leaves out only two considerations: either sporadic PGL/PCC or a yet unidentified genetic-mutation.
Clinicopathologic features of thyroid neoplasm with THADA-IGF2BP3 fusion
Authors: Skibiel C , Ren S , Reid L 
Published: October 2021

Abstract

Introduction/Objective
Thyroid adenoma-associated (THADA)-IGF2BP3 fusions is related to strong overexpression of insulin-like growth factor 2 mRNA-binding protein 3 (IGF2BP3) mRNA and protein, increased IGF2 translation and IGF1 receptor signaling via PI3K and MAPK pathways. THADA-IGF2BP3 have been identified as an oncogenic event in thyroid neoplasms, but the clinicopathologic features have not been greatly evaluated. The purpose of this cases review is to describe the clinical and pathologic findings of thyroid nodules with THADA-IGF2BP3 fusion on molecular testing.

Methods/Case Report
Surgical Pathology 220 cases of total and hemithyroidectomy from January 2018 to December 2019 were reviewed for cytology fine needle aspiration (FNA), molecular testing results and surgical resection pathology.

Results (if a Case Study enter NA)
Three cases of THADA-IGF2BP3 fusion identified by Thyroseq testing from FNA of thyroid nodules with all diagnosed as atypia of undetermined significance, Bethesda category 3. No other mutations or gene fusions are identified. Successive surgical interventions are performed. Case 1 is a 49-year-old female right hemithyroidectomy with pathologic diagnosis of papillary thyroid carcinoma (PTC) follicular variant with tumor capsular invasion and no lymphvascular invasion. The tumor is 2cm, two lymph nodes evaluated are not involved by tumor and pathological stage is pT1b pN0. Case 2 is a 71-year-old female total thyroidectomy and the pathologic diagnosis is PTC follicular variant with tumor capsular invasion and no lymphvascular invasion. The tumor is 2cm, one lymph node evaluated is not involved by tumor and pathologic stage is pT1b pN0. Case 3 is a 76-year-old male left hemithyroidectomy and pathologic diagnosis is PTC follicular variant with tumor capsular invasion and no lymphvascular invasion. The tumor is 2cm, two lymph nodes evaluated are not involved by tumor and pathologic stage is pT1b pN0.

Conclusion
THADA-GF2BP3 fusion is uncommon in thyroid neoplasms and only three cases are detected in 220 cases evaluated. The three cases of thyroid nodules are all diagnosed as AUS by FNA, and all are diagnosed as PTC follicular variant with capsular invasion upon resection without lymphvascular invasion or lymph node involvement. THADA-F2BP3 fusion is associated with thyroid carcinoma, with low-risk non-aggressive behavior, conservative surgery appears necessary and lobectomy is likely adequate.
Aggressive Behavior of Gastrointestinal Stromal Tumors (GISTs) Involving the Female Genital Tract (GYN- GIST) is Associated with TP53 Alterations
Authors: Yanchenko N , George A A , Montgomery E A 
Published: October 2021

Abstract

Introduction/Objective
Women with female reproductive system involvement by GISTs have an unfavorable outcome. We explored the possibility that the more aggressive behavior of GYN-GIST is related to a specific genetic alteration. Our objective was to study such tumors in a cohort of women in search of actionable genes for evolving targeted therapy.

Methods/Case Report
The pathology databases (2004-2020) of the participating institutions were searched for GIST with histologically proven GYN-GIST (study group). The control group consisted of women known to have high risk GIST without genital tract involvement. Patients for whom genetic testing of their GISTs and follow-up information were available were included in the study.

Results (if a Case Study enter NA)
Of 1082 patients with GIST, eight patients fulfilled the study group criteria. Primary sites for both groups were as follows: 5 small bowel, 1 colon, 1 rectum, 1 stomach. The mean follow-up period was 86 and 77 months (study and control, respectively, p=0.34). Favorable outcomes (disease free, stable disease) were seen in 2 and 5 women (study and Control, respectively). Unfavorable outcomes (death, progression on treatment) were seen in 6 and 3 women (study and control, respectively, p&lt;0.05). All patients had initial KIT mutation (exons 11 or 9). In addition, 4 patients from the study group (of 5 tested) had alteration in TP53. One patient without TP53 alterations is disease free. None of the neoplasms from 8 patients tested in the control group had TP53 alterations; fatal outcomes in this group were related to superimposed KIT exon 17 mutation.

Conclusion
Alterations in TP53 (linked to the poor outcome in a host of tumors) may be related to adverse outcome in patients GYN-GIST patients and may be a potential focus as targeted therapy evolves in those patients.
Increased Activated Plasma Cells in Inflammatory Bowel Disease When Compared to Ischemic Acute Colitis
Authors: Thorburn C , Qu Z , Zhang P 
Published: October 2021

Abstract

Introduction/Objective
Inflammatory bowel disease (IBD) and acute ischemic colitis can both be involved by active colitis. IBD is characterized by crypt architectural distortion, basal lymphoplasmacytosis, and occasional granulomatous changes. However, diagnosis of IBDs is still largely by exclusion of other types of active colitis with similar changes. We previously demonstrated that glucose regulated protein 94 (grp94) is mainly expressed by activated plasma cells. We postulate that increased numbers of grp94-positive plasma cells may support diagnosis of IBDs. Here, we compared IBD and active ischemic colitis for grp94 expression in mucosal plasma cells of colectomy specimens

Methods/Case Report
Tissue sections from colectomy specimens with active IBD (n = 8) and ischemic colitis (n = 7) were examined for grp94 expression by immunohistochemistry (monoclonal antibody clone 9G10 at dilution of 1:200, Enzo Life Science, Inc Farmindale, NY). The staining intensity and highest number of grp94 in plasma cells per high power field was counted and recorded for each case, and combined scores were calculated as # of plasma cells multiplied by staining intensity (ranging from 0 to 3+). Unpaired student T tests were used to compare these indices between the two groups for statistical significance (p value &lt; 0.05 was considered significantly different)

Results (if a Case Study enter NA)
Plasma cells in lamina propria identified by grp94 staining showed higher intensity in IBD than ischemic groups. The number of plasma cells and combined scores were also significantly higher in the IBC group than that of ischemic group

Conclusion
Our data indicates that active plasma cells are much more numerous in IBD than ischemic colitis, supporting the notion that active plasma cells are involved in the development of this disease process. Morphologically, active colitis with increased number of plasma cells appears to be another index favoring the diagnosis of IBD.
Histopathological Findings in the Gastrointestinal Tract of Patients with COVID-19
Authors: Middleton C E , Varshney N , Roland D 
Published: October 2021

Abstract

Introduction/Objective
Amidst the SARS-CoV-2 pandemic, we have learned that other organs, aside from the lungs, are affected by the virus. Tissue damage has been documented both clinically and histologically in multiple systems including the gastrointestinal tract. Clinical symptoms of gastrointestinal distress may be correlated with histopathologic findings. Studies have shown direct infection of epithelial cells in the GI tract in patients with the disease. The objective of this study is to identify specific histologic alterations that are present in patients with COVID-19.

Methods/Case Report
At our institution, a retrospective analysis was conducted to evaluate all COVID-positive patients who underwent any gastrointestinal procedure within 30 days after their positive test. The time frame included January 1, 2020 to December 31, 2020. Chart reviews were performed to document radiographic studies, endoscopic findings, histopathologic analysis, and clinical symptoms.

Results (if a Case Study enter NA)
A total of 26 patients met our criteria for inclusion in the study. The cohort consisted of 10 males and 16 females ranging in age from 13 to 78 years. Tissue was sent for histologic analysis in 19 of these individuals. Tubular adenomas (13), chronic gastritis (11), and prominent intestinal lymphoid aggregates (7) were the most common pathologic findings (Table 1).

Conclusion
These findings suggest that the histopathologic findings rendered from GI procedures of patients with COVID-19 may be non-specific and may not reveal any morphologic correlate to the clinical signs and symptoms. We propose that histopathological abnormalities identified from GI samples of SARS-CoV-2 positive patients must be correlated with clinical symptoms, endoscopic findings, and imaging when available.
Metastatic Neoplasms of the Large Bile Ducts- A Clinicopathological Study
Authors: Verma A , Nalbantoglu I , Barbieri A 
Published: October 2021

Abstract

Introduction/Objective
Biliary strictures are often considered malignant until proven otherwise. While the majority of malignant biliary strictures represent a primary neoplasm, secondary involvement by metastasis also rarely occurs. Primary cholangiocarcinoma and metastatic disease have different treatment considerations and likely different prognoses. The aim of this study is to look at the clinico-pathological characteristics of metastatic neoplasms of the bile duct.

Methods/Case Report
We retrospectively searched the pathology archives for biliary biopsies between 1991-2020. Patients with primary biliary, gallbladder, pancreatic, ampullary and hepatic malignancies and all cases of lymphoma were excluded from the study. A total of 20 cases were included.

Results (if a Case Study enter NA)
The median age of the patients was 63 years with a M:F ratio of 1.9:1. The biopsies were taken from the common bile duct (n=17), common hepatic duct (n=2) and left hepatic duct (n=1). 8 patients had synchronous and 12 had metachronous presentation. The overall median interval between the bile duct metastasis and primary was 18 months (Range: 0-100 months) for all patients and 33 months for metachronous cases. For 13 tumors, the primary site of origin was in the gastrointestinal tract (colon: 7; stomach: 4; anal canal: 1; gastro-esophageal junction: 1). Other primary sites included breast (3 cases), lung, endometrium and adrenal (1 each). One case presented with metastatic melanoma with an occult primary. Adenocarcinoma was the most common histological subtype seen in 17 cases. Other histological subtypes were squamous cell carcinoma, adrenocortical carcinoma and melanoma.

Conclusion
Secondary involvement of the bile duct by metastasis is rare. Most cases are metastasis from the lumenal gastrointestinal tract, with colon being the most common primary site. They are more likely to have a metachronous presentation with rare instances of bile duct metastasis as the first presentation. Awareness of secondary involvement of the biliary tree by metastasis is important as they can have prognostic and therapeutic significance.
Utility of colon allograft biopsies in surveillance of patients with small intestinal transplantation – A systematic study of 129 biopsies
Authors: Alkashash A M , Rush N , Saxena R , Rokop Z , Mangus R , Kubal C 
Published: October 2021

Abstract

Introduction/Objective
A segment of right colon is sometimes included with small intestinal allografts to preserve the ileocecal valve and maintain water reabsorption. We correlated pathological findings of colon allograft biopsies obtained during surveillance colonoscopies with clinical, endoscopic, and microbiologic findings.

Methods/Case Report
All colon allograft biopsies from surveillance colonoscopies over a 3-year period were reviewed for crypt apoptotic activity, cryptitis, lamina propria inflammation, ulceration, and crypt architectural distortion. Clinical and endoscopic findings, and positive cultures a week before and after the biopsies were recorded.

Results (if a Case Study enter NA)
There were 129 colon biopsies from 29 patients; 98 were histologically normal, whereas 28 showed rare apoptoses (n=14), focal cryptitis (n=8), increased intraepithelial lymphocytes (n=2), moderate acute rejection (n=1), and crypt architectural distortion (n=2). Of these 29 patients, 8 had abnormal endoscopic findings, 21 were normal. Out of 8 patients with abnormal endoscopic exams, 50% had normal histology on biopsy. Twenty-one biopsies were associated with positive cultures in the blood (n=5), urine (n=16) or wound, peritoneal, stool (n=6); 3 had abnormal endoscopies, and 4, abnormal histology. One patient with C.difficle toxin had normal endoscopy and focal cryptitis, whereas another with CMV DNA in blood showed endoscopically congested mucosa and rare apoptoses on biopsy. Of 12 biopsies (7 patients) with abnormal endoscopic findings, (erythema, congestion, ulceration), 4 biopsies had no pathologic findings, 8 had rare apoptosis, and one each had focal cryptitis and chronic colitis. Paired small intestinal biopsies were present with 59 biopsies; 10 showed rare apoptosis and 2, focal cryptitis. Of 70 without paired small intestinal biopsies, there were 5 with rare apoptotic bodies, 5 with focal cryptitis, and 2 with crypt architectural distortion.

Conclusion
The correlation of histologic, endoscopic, and microbiologic findings in colonic allograft surveillance biopsies is inconsistent. Colon allograft biopsies have limited utility in the follow-up of patients, particularly in absence of paired small intestinal biopsies.
Filiform polyposis in a 20-year-old patient with ulcerative colitis – a rare occurrence
Authors: Ramanarasimhaiah R , Chae B , Toprak M , Opitz L M , Wu H 
Published: October 2021

Abstract

Introduction/Objective
Filiform polyposis (FP), also referred as inflammatory polyposis or pseudopolyposis, is an uncommon benign entity usually diagnosed in patients with history of Crohn’s disease, ulcerative colitis, interstitial tuberculosis or histiocytosis X. It is characterized by multiple finger-like mucosal projections/pseudopolyps seen more commonly in transverse and descending colon. Pathogenesis of FP is uncertain but it is hypothesized to be reactive process to chronic inflammation leading to formation of fingerlike projections. The term filiform polyposis was coined in 1974 by Appleman HD and his collegues to describe numerous long slender worm-like (filiform) colonic lesions seen in radiographs. Herein, we are going to present a case of FP diagnosed in a 20-year-old male with history of medically refractive ulcerative colitis.

Methods/Case Report
The patient is a 20-year-old male, with a history of medically refractive ulcerative colitis on systemic steroids and vedolizumab. He underwent sigmoidoscopy and colonoscopy which reveals multiple pedunculated, polypoid lesions, ranging from 0.5 to 3 cm in length with white tips (cap of purulent mucous). Patient underwent total abdominal colectomy with end ileostomy. The specimen received by our deparment consist of a segment of right colon (63 cm in length, 3.5 cm in diameter) with attached ileum (3 cm in length, 2 cm in diameter) and appendix (6 cm in length, 0.8 cm in diameter). The part of the right colon is constricted/strictured measuring 24 cm in length, 2 cm in diameter. Opening reveals numerous (&gt;100) pedunculated, finger-like polypoid lesions measuring from 0.3 cm to 2 cm in length. The lesions involve the entire right colon including distal colonic surgical margin. Appendix and ileum are not involved by the lesion and grossly unremarkable. Microscopic evaluation of the lesions reveal acute and chronic inflammatory cells, granulation tissue, areas of necrosis and reactive changes with focal mucosal atrophy consistent with chronic ulcerative colitis.

Results (if a Case Study enter NA)
NA

Conclusion
Filiform polyposis (FP) is an uncommon benign entity commonly seen in association with Inflammatory Bowel Diseases. Diagnosing FP requires comprehensive gross and microscopic examination as well as review of clinical history and imaginig studies. Because of its uncommon nature, we recommend to report this entity to raise awareness and to educate the pathologists who have not diagnosed it before.
TTF-1 Immunoexpression in Primary Rectal Adenocarcinoma with Brain Metastasis
Authors: Karimi S S , Valyi-Nagy T , Gonzalez M F 
Published: October 2021

Abstract

Introduction/Objective
Rectal adenocarcinoma metastatic to the brain occurs in 0.6%-3% of cases and is associated with advanced-stage disease.TTF-1 expression in rectal adenocarcinoma is an uncommon finding and less than five cases of TTF-1 positive rectal adenocarcinomas have been reported in the literature. Herein, we report a primary rectal adenocarcinoma with biopsy-proven brain metastasis, radiographic evidence of hepatic and pulmonary involvement and unique expression of TTF-1, a marker with high sensitivity for primary pulmonary and thyroid lesions. Furthermore, we discuss the importance of distinguishing this entity from Pulmonary Enteric Adenocarcinoma (PEA).

Methods/Case Report
A 68-year-old male with hypertension presented with a two-day history of left facial drooping and dysarthria. Brain MRI revealed a 2.9 cm, contrast-enhancing, solitary, right insular mass. A pterional craniotomy and gross total resection of the lesion was performed. Microscopic examination revealed metastatic adenocarcinoma with immunohistochemical expression of CAM 5.2, CDX2, CK20, focal immunoreactivity with Napsin A and TTF-1, and lack of expression of CK7 and Synaptophysin. Radiographic investigation revealed a right posterior rectal lesion and multiple hepatic and bilateral pulmonary nodules. Sigmoidoscopy a fungating, partially circumferential, ulcerated, and friable rectal mass extending 6 cm proximally from the anal verge. Biopsy demonstrated invasive well- differentiated rectal adenocarcinoma with microsatellite stable phenotype, expression of CDX2, CD20, TTF-1 in the lesional cells, and lack of immunostaining with CK7. Given these findings, we favored a diagnosis of invasive well- differentiated rectal adenocarcinoma.

Results (if a Case Study enter NA)
N/A

Conclusion
TTF-1 positive rectal adenocarcinoma is an important differential diagnosis for PEA. As the two primary lesions share histomorphological features, clinical history, radiological findings and immunohistochemical staining with CK7 can aid in distinguishing between the two entities. Recent literature suggests a possible role for CDH17 and SATB2 immunostaining to increase the sensitivity and specificity of distinction between the two entities. Lack of expression of CK7 in both the rectal and brain lesion biopsies, radiological finding of numerous bilateral pulmonary infiltrates and one large, solitary rectal mass supports the diagnosis of advanced stage primary rectal adenocarcinoma with distal metastasis in our patient.
A case of esophageal squamous cell carcinoma metastasized to the colonic anastomotic site of right hemicolectomy
Authors: Zhang Y , Nakanishi Y 
Published: October 2021

Abstract

Introduction/Objective
Although squamous cell carcinoma of the esophagus rarely metastasizes to the uncommon sites, colonic metastasis from squamous cell carcinoma of the esophagus is extremely rare. There has been no case report of colonic metastasis from squamous cell carcinoma of the esophagus to an anastomotic site of the colon.

Methods/Case Report
A 73-year-old female with a history of right hemicolectomy for advanced ascending colon cancer in 2006 was referred to our facility for a two-month history of solid food dysphagia. The patient has been followed up in the survivorship clinic for surveillance with no evidence of recurrence for 13 years to date. An esophagogastroduodenoscopy revealed a 7 cm fungating and ulcerated mass in the middle to lower esophagus. The biopsy from the esophageal mass showed a moderately to poorly differentiated squamous cell carcinoma. A colonoscopy showed an end-to-end ileocolonic anastomosis with a 7 mm ulceration in the transverse colon. The biopsy from the ulceration at the anastomotic site showed a moderately to poorly differentiated squamous cell carcinoma. Immunostains performed on both esophageal and colonic biopsies demonstrate that the tumor cells in both esophageal and colonic biopsies are positive for p40, p63, p16, and negative for CK7, CK20, and CDX2. The diagnosis of metastatic esophageal squamous cell carcinoma to the colonic anastomotic site of previous right hemicolectomy was rendered based on the morphology and immunoprofile. A subsequent computed tomography (CT) and positron emission tomography (PET) demonstrated no other distant metastases. Chemotherapy with 5-FU and oxaliplatin has been started.
A metastasis to the anastomotic site is extremely rare. Although the anastomotic site might be a good niche for cancer cells to metastasize to, the pathogenesis of a metastasis to the anastomotic site remains unknown. Our case is very intriguing because a metastasis occurred at the anastomosis site, and no other metastasis was found.

Results (if a Case Study enter NA)
N/A

Conclusion
We have reported the first case of metastatic esophageal squamous cell carcinoma to the colonic anastomotic site of previous right hemicolectomy in a 73-year-old female. Although the pathogenesis of a metastasis to the anastomotic site remains unknown, the possibility of contribution of surgical trauma to metastasis formation at the ileocolonic anastomosis cannot be completely ruled out.