Case Reports in Pathology最新文献

{"title":"Cutaneous Squamous Cell Carcinoma with Signet-Ring Cell Component and CDX2 Expression in a Patient Treated with PD-1 Inhibitor: A Case Report of a Common Tumor with Unusual Differentiation.","authors":"Sherehan Zada,&nbsp;Jeremiah Tao,&nbsp;Maria Del Valle Estopinal","doi":"10.1155/2023/3378044","DOIUrl":"https://doi.org/10.1155/2023/3378044","url":null,"abstract":"<p><p>Signet-ring cell squamous cell carcinoma (SRCSCC) is an uncommon variant of cutaneous SCC that has been reported in the head and neck region. Herein, we present a case of a 56-year-old female with a cutaneous SCC that recurred after surgical excision, during treatment with cemiplimab (a programmed death receptor-1 (PD-1) inhibitor). Histologically, the recurrent SCC revealed a second component characterized by the presence of signet-ring-like cells (SRLCs). Immunohistochemical studies demonstrated that the tumor cells were positive for P63, CK5/6, CDX2, and P53 while negative for P16, CK7, CK20, and CD68 stains. An abnormal expression of B-catenin was also observed in the tumor. To our knowledge, SRCSCC developing during treatment with an immune checkpoint inhibitor has not been documented in the literature. Our findings suggest a form of acquired SCC cell resistance to immunotherapy that might involve CDX2-related pathways.</p>","PeriodicalId":45638,"journal":{"name":"Case Reports in Pathology","volume":"2023 ","pages":"3378044"},"PeriodicalIF":0.6,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10202599/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9510059","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Herpes Proctitis in Men Mimicking Rectal Adenocarcinoma: Two Cases of an Easily Overlooked Diagnosis in the Proximal Rectum.","authors":"Jing Sun,&nbsp;Reenu Malhotra,&nbsp;Lakshmi Ananthakrishnan,&nbsp;Purva Gopal","doi":"10.1155/2023/6947960","DOIUrl":"https://doi.org/10.1155/2023/6947960","url":null,"abstract":"<p><p>We describe two cases of rectal herpes simplex virus (HSV) infection in men that clinically mimicked rectal adenocarcinoma. Herpes infection in this location more commonly presents as an anal mass with viral inclusions in squamous epithelial cells. We report these cases to increase awareness of the unusual presentation as a proximal rectal mass with viral inclusions in endothelial cell nuclei. One patient was HIV-positive, and the other one had a history of having sex with men (MSM). Both patients had a thickened rectal wall with prominent lymphadenopathy on computed tomography (CT) scan, suspecting for malignancy. Biopsy showed abundant granulation tissue, necrosis, and inflammatory infiltrate composed predominantly of lymphocytes with admixed numerous plasma cells, eosinophils, and neutrophils. Rare granulation tissue vessels were lined by endothelial cells with nuclear molding and chromatin margination, and nuclei that were positive for HSV immunohistochemistry (IHC). One patient had confirmatory viral culture from biopsy of the ulcerated rectal mass. Both patients had symptom resolution following treatment for HSV. HSV should be considered in the differential diagnosis of rectal inflammatory masses, particularly in immunocompromised, HIV-positive, and MSM patients.</p>","PeriodicalId":45638,"journal":{"name":"Case Reports in Pathology","volume":"2023 ","pages":"6947960"},"PeriodicalIF":0.6,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10400295/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10323891","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A PAX-8-Positive Female Urethral Adenocarcinoma, Intestinal-Type: A Case Report with Diagnostic Challenges and a Review of the Literature.","authors":"Mary M Torrez,&nbsp;Frances M Alba,&nbsp;Jain Zhou","doi":"10.1155/2023/8323821","DOIUrl":"https://doi.org/10.1155/2023/8323821","url":null,"abstract":"<p><p>Female urethral adenocarcinoma (FUA) is extremely rare. It is an aggressive malignancy, and clear cell and columnar/mucinous (\"intestinal\") represent the two primary histologic subtypes. Diagnosis is often delayed in patients because of their vague symptomatology; hence, they present with an advanced disease and a poor prognosis. The rarity of FUA brings challenges when determining treatment and management, and treatment guidelines for various stages are lacking. We report an intestinal-type FUA that developed from inflammation-related metaplasia in urethral diverticulum with positive paired box 8 (PAX-8) staining. In addition to intestinal-type FUA being extremely rare, this particular entity exhibiting PAX-8 positivity has not been previously described, to the author's best knowledge. The present report highlights the importance of clinical and radiological assessment as well as histomorphologic and immunophenotypic features for an accurate diagnosis of this rare and aggressive malignancy.</p>","PeriodicalId":45638,"journal":{"name":"Case Reports in Pathology","volume":"2023 ","pages":"8323821"},"PeriodicalIF":0.6,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9938771/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10827247","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Rare Pleomorphic Liposarcoma Presented as Jejunal Obstruction.","authors":"Mohammad Al-Attar,&nbsp;Anup Jnawali,&nbsp;Michelle Yang","doi":"10.1155/2023/8040232","DOIUrl":"https://doi.org/10.1155/2023/8040232","url":null,"abstract":"<p><p>Pleomorphic liposarcoma (PLS) is typically found in the lower and upper extremities. PLS arising in the gastrointestinal (GI) tract is extremely rare. Here, we reported a case of a 71-year-old female with a history of rectal adenocarcinoma presenting with small bowel obstruction. Small bowel resection was performed and revealed a 7.8 cm transmural mass in the jejunum. Histology reviewed a heterogenous epithelioid malignant tumor with intracytoplasmic fatty droplets scalloping the nucleus consistent with lipoblasts in some cells and others with numerous PAS/diastase+intracytoplasmic eosinophilic globules. Scattered multinucleated giant cells were also present. Mitotic count was up to 80/10 HPFs including some bizarre mitotic figures, and Ki67 proliferation index was approximately 60%. Immunohistochemistry demonstrated that the malignant cells were negative for pancytokeratin, CD117, DOG1, SMA, desmin, MyoD1, ERG1, CD34, CD31, SOX10, Melan A, and S100. INI1 was retained. Beta-catenin showed normal membranous staining. P53 was diffusely positive suggestive of mutant phenotype. Fluorescence in situ hybridization (FISH) assay was negative for MDM2 amplification and DDIT3 rearrangement. The overall morphologic and immunohistochemical features supported a diagnosis of high-grade pleomorphic liposarcoma. Diagnosis of PLS can be challenging due to its rarity in GI tract and lack of specific biomarkers, and histomorphology with identification of lipoblasts remains the gold standard.</p>","PeriodicalId":45638,"journal":{"name":"Case Reports in Pathology","volume":"2023 ","pages":"8040232"},"PeriodicalIF":0.6,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10319459/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9803919","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Case of GATA3 Positive Pleomorphic Liposarcoma, Epithelioid Variant: A Diagnostic Pitfall.","authors":"Makoto Abe,&nbsp;Nobuo Hoshi,&nbsp;Sayuri Hoshi,&nbsp;Kaoru Hirabayashi,&nbsp;Kazutaka Kikuta,&nbsp;Toru Hirozane,&nbsp;Rumi Nakagawa,&nbsp;Tsukasa Mizuno,&nbsp;Hiroshi Nakamura,&nbsp;Koichi Inoue,&nbsp;Takehiko Yamaguchi","doi":"10.1155/2023/9443027","DOIUrl":"https://doi.org/10.1155/2023/9443027","url":null,"abstract":"<p><p>Pleomorphic liposarcoma is a rare malignant adipocytic tumor showing undifferentiated pleomorphic sarcoma morphology with various degrees of epithelioid features. It is sometimes difficult to distinguish from carcinoma metastasis. Immunohistochemical panel is very important for differential diagnosis; however, there is a risk that unexpected staining could lead to misinterpretation. We report a pleomorphic liposarcoma, epithelioid variant, in an 88-year-old man, with tricky-positive staining for GATA3. Histological examination revealed a tumor with epithelioid morphology. The tumor consists of solid sheets of epithelioid tumor cells with focal aggregates of pleomorphic lipoblasts. Immunohistochemically, the adipocytic tumor cell areas were positive for S100 protein, and the epithelioid tumor cells showed CAM 5.2 positivity. GATA3 was diffusely positive. The combination of CAM 5.2 and GATA3 staining suggested the possibility of metastatic cancer, but systemic clinical examinations did not detect any presence of a primary tumor, including urinary bladder, breasts, and salivary glands. The pathological diagnosis of pleomorphic liposarcoma, epithelioid variant, was made because of the presence of malignant lipoblasts. Our report may contribute for differential diagnosis of pleomorphic liposarcoma, epithelioid variant, with unexpected positive immunoreaction for GATA3.</p>","PeriodicalId":45638,"journal":{"name":"Case Reports in Pathology","volume":"2023 ","pages":"9443027"},"PeriodicalIF":0.6,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10065854/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9234399","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Case of Hepatic Malignant Solitary Fibrous Tumor: A Case Report and Review of the Literature.","authors":"Zhiyan Fu,&nbsp;Evita B Henderson-Jackson,&nbsp;Barbara A Centeno,&nbsp;Gregory Y Lauwers,&nbsp;Mihaela Druta,&nbsp;Daniel A Anaya,&nbsp;Yukihiro Nakanishi","doi":"10.1155/2023/2271690","DOIUrl":"https://doi.org/10.1155/2023/2271690","url":null,"abstract":"<p><p>A 73-year-old man with a history of atrial myxoma and basal cell carcinoma presented with unexplained fever. Contrast-enhanced CT abdomen showed a large left hepatic lobe mass with early enhancement and delayed venous washout, concerning for hepatocellular carcinoma. Fine needle aspiration showed numerous spindle cells with malignant nuclear features, suggestive of malignant spindle cell neoplasm. The patient underwent left hepatectomy. The surgical specimen showed a well-circumscribe solid mass (14.6 × 13.0 × 10.0 cm) with necrosis. Histopathological examination revealed a proliferation of spindle tumor cells with characteristic staghorn-shaped blood vessels, frequent mitoses, and necrosis. The tumor cells showed strong and diffuse expression of CD34 and STAT6, confirming the diagnosis of malignant solitary fibrous tumor. Solitary fibrous tumor is a rare fibroblastic tumor characterized by a staghorn vasculature and NAB2-STAT6 gene rearrangement. Solitary fibrous tumor of the liver is a rare occurrence. Although most solitary fibrous tumors behave in a benign fashion, solitary fibrous tumors might act aggressively. This case is unique in that it demonstrates an excellent correlation between radiologic, macroscopic, and microscopic features which can contribute to the improvement of radiologic and pathologic diagnostic accuracy.</p>","PeriodicalId":45638,"journal":{"name":"Case Reports in Pathology","volume":"2023 ","pages":"2271690"},"PeriodicalIF":0.6,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9935885/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10767211","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"HER2 Negative Mammary Paget's Disease or In Situ Melanoma? A Case Report and Review of the Literature.","authors":"Luana-Andreea Boșoteanu,&nbsp;Mariana Așchie,&nbsp;Cristian Ionuţ Orǎșanu,&nbsp;Mădălina Boșoteanu","doi":"10.1155/2023/1101130","DOIUrl":"https://doi.org/10.1155/2023/1101130","url":null,"abstract":"<p><p>Mammary Paget's disease (MPD) is a rare histological condition, accounting for 1-4% of female breast cancers, which may appear either independently (1.4-13% of the cases), or in association with an in situ or invasive ductal carcinoma (approximately 90% of the cases). The purpose of this article is to highlight the histopathological challenges related to the microscopical polymorphism of this disease and the utmost importance of immunohistochemistry in the thorough process of Paget's disease differential diagnosis. Moreover, the primary objective of this review of literature was to corroborate the existing data concerning the potential peculiar immunohistochemical profile that mammary Paget's disease might express. We report the case of a 44-year-old female patient, histopathologically diagnosed with HER2-negative MPD accompanying an invasive mammary carcinoma. The histopathological and immunohistochemical approach is derived from the exigency of excluding the possibility of synchronous tumors-a mammary invasive carcinoma, accompanied by another component with MPD phenotypic mimicry. The unexpected negative HER2 reaction is conducted to a primary focus on excluding a malignant melanoma in situ. The absence of MelanA and S100 immunoexpression and lack of pigmentation and clinical aspects infirmed it. Bowen's disease was invalidated by its rare presentation in the breast cutaneous tissue and the absence of individual risk factors suggestive of an existing immunosuppressive status. In the case of similar morphoimmunohistochemical aspects, significant expression of Ki-67 signals MPD, an immunoreactivity that helped distinguish the cellular population from Toker cells. The great similarity of MPD with other benign and malignant cutaneous tumors might determine delay or misdiagnosis. Thus, the utmost importance of immunohistochemistry is reflected in its prognostic significance and geared towards extending the therapeutic arsenal.</p>","PeriodicalId":45638,"journal":{"name":"Case Reports in Pathology","volume":"2023 ","pages":"1101130"},"PeriodicalIF":0.6,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10229244/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9567795","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Rare Case of Multifocal Asynchronous Benign Granular Cell Tumors with <i>PIK3CA</i> Subclonal Mutation Identified in One Tumor by Next-Generation Sequencing.","authors":"Tiago Palmisano,&nbsp;Tina Bocker Edmonston,&nbsp;Thomas Holdbrook,&nbsp;Shuyue Ren","doi":"10.1155/2023/2932512","DOIUrl":"https://doi.org/10.1155/2023/2932512","url":null,"abstract":"<p><p>Granular cell tumor (GCT) is a benign neuroectodermal tumor typically in the dermis or subcutis, although deep soft tissues and organs are occasionally involved. Multifocal GCTs are estimated to occur as many as 10% of patients. A 40-year-old female presented with multiple GCTs asynchronously involving various body sites including gastrointestinal, gynecologic, breast, urinary, and soft tissue systems. Pathologic examinations suggested benign GCTs. TruSight Tumor 170 next-generation sequencing (NGS) analysis performed on four resected tumors revealed subclonal mutation of <i>PIK3CA</i> p.H1047R identified in the esophageal GCT but not in the right vulva or the two cecal GCTs, suggesting that each is a primary tumor with a distinct genetic profile, rather than metastasis. <i>PIK3CA</i> p.H1047R is a common mutation in many cancers. Our benign GCT case demonstrates <i>PIK3CA</i> mutation with a low mutant allele frequency of 7%, which may represent an evolving subclone and might confer a more aggressive behavior.</p>","PeriodicalId":45638,"journal":{"name":"Case Reports in Pathology","volume":"2023 ","pages":"2932512"},"PeriodicalIF":0.6,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9889140/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9212691","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Rare Case of Ruptured Tailgut Cyst Leading to Carcinomatosis.","authors":"Samir Atiya,&nbsp;Adam Horn,&nbsp;Whitney Wedel,&nbsp;Nicholas Lintel","doi":"10.1155/2023/1282058","DOIUrl":"https://doi.org/10.1155/2023/1282058","url":null,"abstract":"<p><p>Tailgut cysts are congenital cysts arising in the retrorectal space. They are thought to be benign with variable malignancy risks. We report a case with previous surgical intervention decades prior that had undergone a tailgut cyst excision with surgical complications leading to carcinomatosis. An elderly female (70s) presented with tailbone/pelvic pain. She underwent cyst excision that was complicated by an intraoperative rupture. The cyst was pathologically proven to be a tailgut cyst with adenocarcinoma. She presented 13 months postoperatively to the emergency department with worsening abdominal pain. Imaging was concerning for diffuse omental nodules and narrowing of the proximal sigmoid colon. She was not deemed to be a surgical candidate and was transitioned to hospice care, where she passed away shortly afterward. This case report highlights the utility of complete excision of tailgut cysts and possible complications.</p>","PeriodicalId":45638,"journal":{"name":"Case Reports in Pathology","volume":"2023 ","pages":"1282058"},"PeriodicalIF":0.6,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10171976/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9467660","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Storage Artifact Masquerading as Yeast: Presenting a Diagnostic Pitfall.","authors":"Elena M Fenu,&nbsp;Tawfeq Naal,&nbsp;Elizabeth Palavecino","doi":"10.1155/2022/3326214","DOIUrl":"https://doi.org/10.1155/2022/3326214","url":null,"abstract":"<p><p>Abnormal cell morphology can result from prolonged specimen storage, both for red and white blood cells. In particular, nuclear pyknosis of segmented neutrophils can occur in both peripheral blood and body fluids and may represent a diagnostic pitfall as it can mimic intracellular yeast or bacteria morphology. Pathologists are frequently asked to examine body fluid smears which are thought to contain microorganisms, and the presence of an unexpected organism can be especially concerning. Morphologic changes from prolonged storage may be encountered infrequently, and it is important to be aware of them in order to avoid misrepresentation, as additional work-up may be required for a suspected case of an unexpected fungal infection.</p>","PeriodicalId":45638,"journal":{"name":"Case Reports in Pathology","volume":" ","pages":"3326214"},"PeriodicalIF":0.6,"publicationDate":"2022-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9569209/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40322012","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}