bluuebunny/crossref_metadata_2025_split huggingface dataset:
Extensive Post-EMR Procedure Related Artifact due to Novel Submucosal Lifting Agent, Mimicking Amyloid – A Diagnostic Pitfall
Authors: Dalal S , Jhala D 
Published: November 2022

Abstract

Introduction/Objective
Endoscopic mucosal resection (EMR) techniques are vital for the management of premalignant lesions and early-stage (T1N0) malignant lesions of the digestive tract. Recently FDA approved submucosal lifting agent “ORISE™” (Boston Scientific, Marlborough, MA) for EMR procedure to enable resection of the polyp or lesion. We herein present two hemicolectomy cases performed for a colon cancer showing an exuberant amyloid-like reaction due to ORISE™ Gel.

Methods/Case Report
At Veterans Affairs Medical Center, two cases of hemicolectomy were performed for colon cancer. Both cases had prior EMR procedure performed for a large cecal polyp. ORISE™ gel was injected with successful lift of the polyp during EMR. Pathology on both cases revealed tubulovillous adenoma with high grade dysplasia; hence right hemicolectomy was performed. Microscopic examination revealed submucosal area with extensive amorphous, eosinophilic/hyaline deposits and surrounding giant cell formation, underlying the cancerous polyp. The deposits were neither refractile nor polarizable. No tattoo pigmentation identified to explain this reaction. The fibrillary eosinophilic deposit raised the concern for concurrent amyloid deposits. This stained pale blue with Masson trichome special stain. Congo red special stain for amyloid was negative and no apple-green birefringence under polarized light was identified. Finally, after extensive ancillary work-up with literature review, the case was signed out as “changes consistent with post-EMR ORISE™ gel artifact”.

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

Conclusion
Knowledge of EMR procedure artifact due to use of ORISE™ gel is crucial in routine hemicolectomy specimens performed for unresectable polyps or colon cancer cases. ORISE™ gel creates amorphous hyaline deposits mimicking amyloid. The deposits encompass larger submucosal area with giant cells mimicking foreign body. Delay in turn around time of the case with additional cost for the ancillary work-up. Extensive amyloid-like reaction is a diagnostic pitfall in routine hemicolectomy specimens and, awareness of prior EMR procedure related artifact is important to avoid misinterpretation and delay in patient care.
Fistula-associated Mucinous anal Adenocarcinoma, a Surprise Diagnosis in a Benign Chronic Peri-Anal Fistula Resection
Authors: Dalal S , Petersen J M , Jhala D 
Published: November 2022

Abstract

Introduction/Objective
Mucinous anal adenocarcinoma arising in a long standing, chronic peri-anal fistula is rare, accounting for 2-3% of the total anal adenocarcinomas with only few cases reported in a literature. These slow growing, locally aggressive neoplasms with a low-grade histologic appearance, clinically manifest late in a disease course. This entity’s pathogenesis and origin remains controversial. As it arises within a chronic fistula, these tumors present a late stage. Hence, this is generally a surprise finding upon fistula excision. Mucinous carcinomas from other sites should be ruled out with ancillary studies before making this diagnosis. Awareness of this rare cancer is crucial.

Methods/Case Report
67-year-old male with a known history of fistula, presented with reports of recent onset of pain and swelling near his anus. He had a history of seton placement, perirectal abscess drainage and past fistulotomy in 2006 and 2008. On physical exam, he had a firm, tender mass with an ostium just right and posterior to his anus. Pre- operative diagnosis was a chronic, recurrent fistula. Immunohistochemical stains showed mucinous adenocarcinoma with anal gland phenotype. Hence, by WHO criteria, this was diagnosed as Fistula-associated mucinous adenocarcinoma. After the diagnosis of cancer, imaging studies for staging did not reveal any metastatic disease, nor was there any residual lesion or fistulous tract as evaluated by the surgeon. Hence evaluation of the margins on the resection specimen was crucial for post-operative radiotherapy.

Results (if a Case Study enter NA)
NA.

Conclusion
1. Mucinous adenocarcinoma arising in a chronic, benign fistula is a rare entity with unsuspected diagnosis, and since the presentation is often delayed, a high degree of clinical suspicion is required for early diagnosis and management. Early detection is crucial as prognosis is worse if size is greater than 5 cm, and/or if there is lymphatic or vascular invasion. Acellular mucinous pool in excision of a benign fistula, should raise the suspicion of this entity. Excision specimen from the long standing chronic, fistulas should be submitted in its entirety for microscopic evaluation to avoid the possibility of missing this underlying malignancy. Most patients can be cured with aggressive surgical and adjuvant chemoradiotherapy, hence, when possible, this specimen should be inked to enable the evaluation of the margins.
Unusual liver Involvement by Small Cell Carcinoma Arising in an Ovarian Malignant Mixed Mullerian Tumor
Authors: Jayaratne N , Pereira MD D , Jiang K 
Published: November 2022

Abstract

Introduction/Objective
Malignant mixed Mullerian tumor (MMMT) is a rare and aggressive tumor with patient survival of fewer than three years. MMMT harbors multilineage differentiation associated with malignant epithelial and stromal components. Awareness and familiarity with these characteristics are essential for patient stratification and clinical management.

Methods/Case Report
A 64-year-old female presented with refractory lower abdominal pain and bloating. Imaging studies revealed a 14-cm pelvic mass. The patient underwent urgent hysterectomy with salpingo-oophorectomy. She was diagnosed with ovarian MMMT(A) and received chemotherapy. The patient returned 2 months later with new- onset abdominal pain. CT detected numerous liver lesions; a biopsy was performed.

Results (if a Case Study enter NA)
The liver biopsy revealed metastatic small cell carcinoma (SCC[B], positive for synaptophysin and CD56; Ki67 &gt;90%.). However, no concurrent lesions were identified on imaging. Further testing was attempted to locate the source of the SCC. Re-review of the MMMT with additional tissue sectioning identified sheets of high-grade pleomorphic malignant cells with a high N:C ratio, arranged in rosettes and without mucin. Additional immunohistochemistry labeled this MMMT diffusely with synaptophysin(C), chromogranin, and CD56. Furthermore, microscopic foci of MMMT showed higher grade histomorphology similar to the liver SCC which stained for PAX5(D). These findings illustrate a rare MMMT with a neuroendocrine carcinoma/SCC component which gave rise to liver metastasis.

Conclusion
This unusual liver SCC in a patient with prior MMMT exemplifies the multipotent malignant potential of MMMT and demonstrates the importance of having a spectrum of differentials and carrying out meticulous histomorphologic and ancillary analyses, especially when there is unusual histomorphology and discordance in clinical course.
Recurrent Small Bowel Obstruction and Perforation as a Complication of EFEMP1-Associated Systemic Venous Amyloidosis
Authors: Karimi S S , Ree N 
Published: November 2022

Abstract

Introduction/Objective
Amyloidogenic protein EGF-containing fibulin-like extracellular matrix protein 1 (EFEMP1) is a newly described age-related systemic venous amyloidosis. EFEMP1 venous deposition has recently been reported in postmortem gastrointestinal specimens in which the deceased presented with gastrointestinal bleeding.

Methods/Case Report
We report a case of a 53-year-old female with long-standing seronegative spondylitis, and multiple recurrent small bowel obstructions and perforations status post surgical interventions who presented with 3 days of generalized abdominal pain, 10/10 in severity with nausea, emesis and absence of bowel movement. Abdominal CT scan confirmed closed loop obstruction in the left hemi-abdomen. An emergent partial duodenectomy was performed with extensive lysis of adhesion which revealed a perforated jejunal diverticulum with abscess formation. Microscopic examination demonstrated the presence of eosinophilic, amorphous, acellular material in the venules of the duodenum wall. Congo red stain demonstrating the presence of amyloid deposits and the specimen was sent for amyloid typing. Liquid chromatography tandem mass spectrometry demonstrated a peptide profile consisting of serum amyloid P, apolipoprotein A4, apolipoprotein E, and abundant peptides associated with EFEMP1/FBLN3 consistent with a recently described age-related venous amyloidosis derived from EFEMP1 protein.

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

Conclusion
EFEMP1-associated systemic venous amyloidosis has a predilection for females with a median age of 75 years and almost exclusively occurs in the gastrointestinal tract. We report this case for its novelty, unique clinical presentation and to emphasize awareness of this entity as we learn more about its etiology, presentation, management, and prognostication.
A Comparative Analysis of CPA1, bcl10 and Chymotrypsin for the Distinction of Pancreatic Acinar Cell Carcinomas
Authors: Uhlig R , Minner S , Luebke A , Weidemann S , Lebok P , Gorbokon N , Blessin N C , Lennartz M , Sauter G , Jacobsen F , Clauditz T S 
Published: November 2022

Abstract

Introduction/Objective
Introduction: Pancreatic acinar cell carcinoma (PACC) is a rare tumor of the pancreas with an intermediate prognosis as compared to pancreatic neuroendocrine tumors (PNE) and pancreatic ductal adenocarcinoma (PDAC) from which it may be difficult to distinguish by morphology alone.

Methods/Case Report
Methods: To study was the efficiency of immunohistochemical markers, 18 PACCs, 531 PDACs, 64 PNEs, 117 extra pancreatic neuroendocrine neoplasms (EPNN), 826 colorectal carcinomas (CRC) and 252 gastric carcinomas (GC) were analyzed with antibodies for CPA1 (MSVA-601M), bcl10 (Santa Cruz sc5273), and chymotrypsin (Biorad 2100-0657) in a tissue microarray format.

Results (if a Case Study enter NA)
Results: CPA1 was positive in 18 of 18 (100%) of PACCs, 0 of 49 (0%) of PNEs, 0 of 88 (0%) of EPNNs, 10 of 404 (2.5%) of CRCs, and 0 of 178 (0%) of GCs. Chymotrypsin was positive in 16 (87,5%) PACCs, 1 (2%) PNEs, 2 (2.3%) EPNNs, 10 (2.5%) CRCs, and 1 (0.6%) GCs. Bcl10 was positive in 18 (100%) PACCs, 2 (4.1%) PNEs, 5 (1%) EPNNs, 109 (27%) CRCs, and 18 (10%) GCs. These data resulted in a sensitivity and specificity of 100%/99.2% for CPA1, 100%/88.4% for bcl10, and 94.4%/98.6% for chymotrypsin.

Conclusion
CPA1 and chymotrypsin are both highly specific and sensitive for ACC while bcl10 is sensitive but has markedly lower specificity. Because all “false positive” cases identified by CPA1 were CRCs that only showed a positive staining in goblet cells and an identical staining pattern was observed in all these cases for chymotrypsin and bcl10, a pancreatic origin of the mucus in these goblet cells is concluded.
Benign Mullerian Glandular Inclusions in Men: A Metastatic Carcinoma Mimic
Authors: Bhatt M , Chand M , Qu H 
Published: November 2022

Abstract

Introduction/Objective
Benign mullerian glandular inclusions (MGI) in lymph nodes is a well documented finding in women. However, it can also very rarely occur in men and mimic metastatic carcinoma. To our knowledge, only seven cases of benign MGI in men have been reported in the literature.

Methods/Case Report
We here-in present a case of a 62-year-old male with a three-year history of prostatic adenocarcinoma Gleason score 6, initially diagnosed on needle core biopsies. Subsequently, the patient underwent a radical prostatectomy with bilateral pelvic lymph node dissection. Histological evaluation of the right pelvic lymph node demonstrated cystically dilated glands beneath the capsule composed of cuboidal to columnar cells with minimal atypia raising concern for metastatic carcinoma to the lymph node. Immunohistochemical (IHC) stains showed the glandular cells to be positive for estrogen, progesterone, PAX-8 and WT-1; while negative for calretinin and PSA immunostains. This IHC profile in conjunction with the morphological findings are consistent with the diagnosis of benign mullerian-type glandular inclusions within the lymph node.

Results (if a Case Study enter NA)
NA.

Conclusion
As benign MGI is a rare finding in men and can easily be mistaken for metastatic carcinoma, this case demonstrates that clinical awareness of this entity is essential to avoid wrongful diagnosis of metastatic carcinoma and unnecessary therapeutic treatment. Utilizing immunohistochemical stains to further characterize the glands is critical to obtain the correct diagnosis.
Every TURP Is not Just BPH
Authors: Al-kharouf I , Sami F , Hamza A 
Published: November 2022

Abstract

Introduction/Objective
Transurethral resection of prostate is a common specimen in surgical pathology practice. These specimens usually demonstrate benign prostatic hyperplasia. However, occasionally incidental prostate cancer is identified. Finding a true mesenchymal tumor in these specimens is exceedingly rare. We present a unique case of prostatic adenocarcinoma Gleason score 3 + 4 =7 and concurrent solitary fibrous tumor identified on a TURP specimen. Solitary fibrous tumor in this anatomical location is rare with approximately 50 cases reported in the English language literature.

Methods/Case Report
An 86-year-old male presented with symptoms and signs of urinary retention. On clinical evaluation the prostatae was profoundly enlarged with a calculated volume of 283cc; firm in consistency. He was given trial of medical management including finasteride, tamsulosin and Foley catheter placement. Subsequently, the patient underwent transurethral resection of prostate. Complete morcellation was not possible at the initial surgery due to hard consistency of the gland. Pathologic evaluation showed prostatic adenocarcinoma Gleason grade 3 + 4=Score 7 (Grade group 2) involving 10% of submitted tissue in addition to the changes of benign prostatic hyperplasia. Additionally, the background stroma demonstrated short plump oval to spindle cells with inconspicuous nucleoli and collagenous background, arranged in a haphazard (‘‘patternless’’) pattern. Immunohistochemical stains showed these lesional cells to be positive for STAT6 and CD34 and negative for desmin, S100, SOX-10, CD 117, DOG-1 and NKX 3.1. Morphology and immunohistochemical profile were compatible with solitary fibrous tumor involving the prostate. The patient is alive and symptom-free 9 months after the procedure.

Results (if a Case Study enter NA)
NA.

Conclusion
This case highlights the value of thorough evaluation of prostatic tissue in TURP specimens not only for prostate cancer but other tumors as well. It also reminds the practising pathologist to keep an eye out for the stromal lesions of the prostate gland. Also finding one lesion should not dissuade one from looking for additional concurrent lesions.
Hypertension in Young Adults: Think Juxtaglomerular Cell Tumor!
Authors: Quach P , Hamza A 
Published: November 2022

Abstract

Introduction/Objective
Juxtaglomerular cell tumor is a benign, renin-secreting neoplasm. The tumor arises from the juxtaglomerular apparatus cells of the kidney. Because the tumor is hormonally active, patients usually suffer from hypokalemia, hyperaldosteronism, and hypertension. The typical patient population is adolescents and young adults with slight female predominance. Herein, we describe a case of a 19-year-old Asian female with a somewhat atypical presentation.

Methods/Case Report
A 19-year-old Asian female presented with upper extremity weakness, numbness, and tingling. On physical examination, the only notable finding was hypertension. Extensive work up reveled an aldosterone level of 71 nanograms per deciliter and plasma renin activity of 6.25 nanograms per milliliter per hour. A CT scan of the abdomen revealed a 2.4cm mass in the lower pole of the left kidney. The mass was resected by partial nephrectomy. Sectioning of the specimen revealed a 2.4cm well-circumscribed, encapsulated tumor. On microscopic evaluation, the tumor had glomoid appearance with sheets of uniform, round to polygonal cells with clear to eosinophilic cytoplasm. The stroma was scanty, mitoses were rare, and necrosis was not identified. Immunohistochemical stains showed the tumor cells to be positive for CD117, CD34, Cathepsin K, Synaptophysin, and CD10 and negative for ER, PR, CK7, PAX-8, pancytokeratin, EMA, S100, Melan-A, HMB45, SMA and CAIX. Diagnosis of Juxtaglomerular cell tumor was rendered. The patient was alive and well and without signs of recurrence 14 months after surgery.

Results (if a Case Study enter NA)
NA.

Conclusion
This case highlights the importance of a regular physical exam and having a high index of suspicion in patients presenting with unusual complaints.
Rhabdoid Melanoma Solitary Metastasis to Kidney with Renal Vein Invasion Mimicking Renal Cell Carcinoma
Authors: Halat S K , Singh A , Bach K 
Published: November 2022

Abstract

Introduction/Objective
83 percent of malignant melanoma cases present as localized skin lesions. However, a small percentage of patients present with concurrent metastatic disease or experience late metastasis. Metastatic melanoma has highly variable presentation and morphology, frequently mimicking other tumors. The most common metastatic sites in order of frequency are skin and subcutaneous tissue, lungs, liver, bones, and brain. While rare, metastasis to the kidney can occur and typically takes the form of multiple micrometastases.

Methods/Case Report
Here we present an unusual case of a late, purely rhabdoid large solitary renal metastatic melanoma with renal vein invasion, mimicking rhabdoid renal cell carcinoma. The patient is an 84 year old male with a remote history (30 years) of cutaneous malignant melanoma who was referred with a CT scan demonstrating 7.9 x 5.7 x 5.7 mass in the lower pole of the left kidney with a tumor thrombus in the renal vein hhighly suspicious radiographically for renal cell carcinoma. The patient underwent a radical nephrectomy. Macroscopically there was a solitary 7.7 x 6.3 x 5.5 cm tan-grey mass in the lower pole with gross invasion into the renal sinus fat and renal vein resembling the macroscopic appearance of a renal cell carcinoma. Microscopic examination demonstrated pleomorphic tumor cells with pure rhabdoid morphology, extensive necrosis and Lymphovascular invasion. No pigment was identified. No classic clear cell areas were identified. Immunohistochemical stains were positive for S100, SOX10 Melan-A, HMB45 and vimentin and negative for AE1/3, CK7, CAIX, PAX8, P63, CD117 and AMACR. Multiple resected lymph nodes were negative for metastasis

Results (if a Case Study enter NA)
NA.

Conclusion
This case is a rare and unusual presentation of melanoma, and it’s important to keep this diagnosis in consideration in the setting of unusual morphology of renal tumors.
Correlation Between hr-HPV Genotypes/Negative Cytology with Cervical Histology Findings
Authors: Benchbani H , Hamidpour S 
Published: November 2022

Abstract

Introduction/Objective
It is well established that the persistent of hr-HPV infection is necessary for the development of cervical dysplasia. Currently, routine cervical cancer screening include both high-risk human papilloma virus (hr- HPV) testing and cervical cytology tests. The guidelines for managing HPV-positive/cytology-negative results is cotesting at 1 year, and/or immediate colposcopy if HPV16 and/or HPV18 is positive. We analyzed the correlation between hr-HPV genotypes /negative cytology with cervical histology findings.

Methods/Case Report
Retrospective chart review was performed to identify all negative pap smears with positive hr-HPV and follow up colposcopy for patients who presented to our institution from January 2018 to December 2019. We calculated the distribution of HPV genotypes within low grade and high-grade cervical lesions among patients with HPV-positive/cytology-negative pap smears.

Results (if a Case Study enter NA)
179 patients with HPV-positive/cytology-negative pap smears were included. The age range was 22-69 years old. Among these patients, 6.70% had low-grade squamous intraepithelial lesion (LGSIL) and 6.14% had high-grade squamous intraepithelial lesion (HSIL) on follow up biopsy. The detection rates of HPV genotypes among patients with LGSIL diagnosis were HPV16 (41.66%), HPV18 (16.66%) and other hr-HPV (41.66%). The detection rates of HPV genotypes among patients with HGSIL diagnosis were HPV16 (9.09), HPV18 (0%), other hr-HPV (72.72%), combined HPV16 + other hr-HPV (9.09), combined HPV18+ other hr-HPV (9.09%).

Conclusion
According to our data, patients with negative cytology and HGSIL on biopsy have higher association with other hr-HPV (not 16 or 18) than HPV 16 and 18. Patients with negative cytology and LGSIL on biopsy have higher association with HPV16 and other hr-HPV subtypes than HPV18. Thus, we recommend follow-up colposcopy even for patients with other hr-HPV infection.
Uterine Leiomyoma with Bizarre Nuclear Morphology: Report of a Rare Case
Authors: Hosseini H , Al-Refai R , Morrar D , Unger P , O'Leary X , Villella J A 
Published: November 2022

Abstract

Introduction/Objective
Sporadic fumarate hydratase (FH)-deficient leiomyoma occurs as a result of somatic inactivation of the FH gene and has been found to represent 1% of uterine leiomyomas. Germline inactivation of the FH gene is associated with a rare autosomal dominant syndrome known as hereditary leiomyomatosis and renal cell carcinoma (HLRCC). Women with HLRCC develop cutaneous and uterine leiomyomas and an aggressive renal cell carcinoma, with 57% reported to undergo hysterectomy at 30 years of age or younger. All FH-deficient leiomyomas display a distinct histology characterized by scattered bizarre nuclei, eosinophilic cytoplasmic inclusions, conspicuous eosinophilic nucleoli, and perinuclear clearing. Immunohistochemically, the neoplastic cells do not express FH while they are positive for S-(2-succino)-cysteine (2SC), a metabolite that accumulates when FH is inactivated.

Methods/Case Report
We present a 48-year-old woman who underwent supracervical hysterectomy for a symptomatic uterine leiomyoma. She was status post left salpingo-oophorectomy for left adnexal endometriosis. Grossly, the hysterectomy specimen was significant for one 8.0 cm intramural uterine corpus tumor with a tan-white whorled cut surface. Histology showed a smooth muscle neoplasm in the myometrium composed of spindled cells with abundant eosinophilic cytoplasm, occasional enlarged prominent nucleoli with perinuclear halos, intracytoplasmic eosinophilic globules, focal bizarre nuclear atypia and thin-walled staghorn vessels with widespread hyaline necrosis with no mitotic activity. Immunohistochemical studies demonstrated that the neoplastic cells expressed desmin, SMA, SMMH, and 2SC and were negative for FH; consistent with a FH-deficient leiomyoma.

Results (if a Case Study enter NA)
NA

Conclusion
Although rarely seen, pathologists should be cognizant of FH-deficient neoplasms. Genetic counseling and close follow up of the individuals harboring germline inactivating mutations of the FH gene could lead to early detection of the RCC in these patients and their family members.