{"title":"Adult-onset autoimmune enterocolopathy initially presenting with lower gastrointestinal histologic findings: A case report and review of literature","authors":"Jennifer Pfeiffer , John M. Kennedy","doi":"10.1016/j.hpr.2024.300732","DOIUrl":"https://doi.org/10.1016/j.hpr.2024.300732","url":null,"abstract":"<div><p>Autoimmune enterocolopathy (AIE) is an immune-mediated disease effecting the gastrointestinal tract that has been increasingly recognized in adults. Prior reports of adult-onset AIE, as well as published diagnostic criteria, emphasize the histopathologic findings in the small bowel to support the diagnosis. However, AIE is known to be a pan-enteric disease, and the initial histologic findings could be first encountered at non-small bowel sites. Here, we report a case of adult-onset AIE, where the initial histologic findings of AIE manifested in the colon as marked loss of goblet cells and prominent basal apoptoses. We review the differential diagnostic considerations, and discuss the subsequent clinical workup needed to evaluate for AIE if it is suspected on a colon biopsy. Additionally, a literature review was performed to determine the histopathologic characteristics of adult-onset AIE in the colon. Overall, the present case report, as well as findings from the literature review, suggest that AIE should enter the differential diagnosis in an adult patient with diarrhea when loss of goblet cells and prominent basal apoptoses are observed in a patient’s colon biopsy, especially when alternative etiologies are not supported by appropriate clinical context.</p></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"35 ","pages":"Article 300732"},"PeriodicalIF":0.0,"publicationDate":"2024-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772736X24000045/pdfft?md5=c6869c8c9a75a8f2f2e6ff7388c7bf1b&pid=1-s2.0-S2772736X24000045-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139731773","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}
Kelly M. Garrity , Richard Chiu , Rachana Srivastava , Deborah K. McCurdy , Jonathan E. Zuckerman
{"title":"Blau syndrome complicated by granulomatous tubulointerstitial nephritis and immune complex mediated glomerulonephritis: A case report and review of the literature","authors":"Kelly M. Garrity , Richard Chiu , Rachana Srivastava , Deborah K. McCurdy , Jonathan E. Zuckerman","doi":"10.1016/j.hpr.2024.300730","DOIUrl":"https://doi.org/10.1016/j.hpr.2024.300730","url":null,"abstract":"<div><p>Blau syndrome is a rare, autosomal dominant or de novo mutation, granulomatous, auto-inflammatory disorder classically manifesting as a triad of polyarthritis, uveitis, and dermatitis. Rarely, this disease involves visceral sites such as the liver, lung, and kidney. In this report, we describe a case of a 13-year old female with Blau syndrome, with prior findings of polyarticular arthritis, uveitis, granulomatous sialadenitis of the right parotid gland, and positive NOD2 mutation testing, whose serum creatinine acutely rose despite being on anti-TNF-alpha therapy since age two. Kidney biopsy revealed granulomatous tubulointerstitial nephritis (TIN) and an immune complex (IC)-mediated glomerulonephritis attributed to Blau syndrome. We conducted a literature search to find all reported cases of Blau syndrome with biopsy findings of granulomatous renal involvement, finding ten other case reports. We assessed the likelihood of TIN and immune complex deposition, the drugs used to treat these patients, and the clinical outcomes. We found coexisting IC renal deposition rare, occurring in 2/11 patients including ours and renal involvement that was anti-TNF unresponsive was only present in our patient with a recorded renal treatment outcome.</p></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"35 ","pages":"Article 300730"},"PeriodicalIF":0.0,"publicationDate":"2024-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772736X24000021/pdfft?md5=700387b75208cc35b52a2b0adc843f45&pid=1-s2.0-S2772736X24000021-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139653699","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}
Fahad Al Qooz , Mohammad Alanazi , Mohammad S. Al Olaimat , Tasneem Malahmeh , Zaid Rasheed Alzoubi
{"title":"Submandibular basal cell adenoma – A rare presentation","authors":"Fahad Al Qooz , Mohammad Alanazi , Mohammad S. Al Olaimat , Tasneem Malahmeh , Zaid Rasheed Alzoubi","doi":"10.1016/j.hpr.2024.300729","DOIUrl":"https://doi.org/10.1016/j.hpr.2024.300729","url":null,"abstract":"<div><p>A basal cell adenoma is a rare salivary gland tumor that usually occurs in the parotid gland, upper lip, palate, or sometimes the nasal septum. It rarely involves the submandibular gland. To the best of our knowledge, only 6 cases involving the submandibular gland have been described in the literature. We present a case of a 41-year-old female who presented with right submandibular swelling and was diagnosed as having a basal cell adenoma.</p></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"35 ","pages":"Article 300729"},"PeriodicalIF":0.0,"publicationDate":"2024-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772736X2400001X/pdfft?md5=1e012deec972b1007d983be855a18299&pid=1-s2.0-S2772736X2400001X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139436567","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}
Jane E. Buys , Christiaan H. Gouws , Stefanus W.D. van der Walt , Jacqueline Goedhals
{"title":"Conjunctival stromal tumour: A case report","authors":"Jane E. Buys , Christiaan H. Gouws , Stefanus W.D. van der Walt , Jacqueline Goedhals","doi":"10.1016/j.hpr.2023.300728","DOIUrl":"https://doi.org/10.1016/j.hpr.2023.300728","url":null,"abstract":"<div><p>Conjunctival stromal tumour (COST) is a rare and newly described mesenchymal tumour of the conjunctiva. We present a case of a slow-growing conjunctival lesion in a 54-year-old female. Due to persistent irritant symptoms, the lesion was excised. Histopathological assessment showed a paucicellular tumour set in an oedematous and collagenous background within the lamina propria. Significant nuclear degenerative atypia was noted. Lesional cells were positive for CD34 immunohistochemistry. The features were consistent with COST. The condition is typically unilateral and arises in the bulbar conjunctiva, with both inflammatory and neoplastic origins considered. They are sporadic and occur most frequently in adults. COSTs are indolent and managed effectively with complete surgical excision. Conjunctival myxoma is the most important differential diagnosis due to its association with the Carney complex, a potentially life-threatening condition that requires close clinical follow-up. Accurate recognition of COST and myxoma is crucial to stratify care appropriately.</p></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"35 ","pages":"Article 300728"},"PeriodicalIF":0.0,"publicationDate":"2023-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772736X23000385/pdfft?md5=676de225335f782257fabcce76cb3c7a&pid=1-s2.0-S2772736X23000385-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138839032","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}
Ahmed Bendari , Xuelin Zhong , Sunder Sham , Reham Al-Refai , Aisha Abdelhafez , Paul C. Lee , Elana Opher , Manju Harshan
{"title":"Primary adenoid cystic carcinoma in the lung: Reporting two cases and mini-literature review","authors":"Ahmed Bendari , Xuelin Zhong , Sunder Sham , Reham Al-Refai , Aisha Abdelhafez , Paul C. Lee , Elana Opher , Manju Harshan","doi":"10.1016/j.hpr.2023.300727","DOIUrl":"https://doi.org/10.1016/j.hpr.2023.300727","url":null,"abstract":"<div><p>Primary adenoid cystic carcinoma (ACC) accounts for less than 0.2 % of all primary lung malignancies. Here we present two cases of lung ACC (ACCL), first is a 65-year-old female who was diagnosed with ACCL and surgically treated at another institution. She presented with recurrent tumor which was resected at our hospital. No adjuvant treatment was given, and she is without any signs of residual tumor or recurrence after 6 months. The second case is a 68-year-old female with a right upper lobe nodule noticed in 2017 but declined biopsy due to fear of possible complications. In 2022 she underwent biopsy at our institution which showed ACCL and was treated surgically without adjuvant therapy. Till date she is with no evidence of residual tumor or recurrence. Multiple disciplines need to work together to provide the best patient care from accurate diagnosis to surgical resection and additional therapy. More research is needed to generate guidelines for treatment of this rare malignancy, especially the indications for chemotherapy.</p></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"35 ","pages":"Article 300727"},"PeriodicalIF":0.0,"publicationDate":"2023-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772736X23000373/pdfft?md5=977f93dd5b03f2c16fceb06a50bc32c4&pid=1-s2.0-S2772736X23000373-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138570031","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}
Dona Maria George , Archana Lakshmanan, S Annapurneswari, Karuppasamy Usharani
{"title":"Epithelioid inflammatory myofibroblastic sarcoma – A rare case report","authors":"Dona Maria George , Archana Lakshmanan, S Annapurneswari, Karuppasamy Usharani","doi":"10.1016/j.hpr.2023.300726","DOIUrl":"https://doi.org/10.1016/j.hpr.2023.300726","url":null,"abstract":"<div><p>Inflammatory myofibroblastic tumors are mesenchymal neoplasms made up of spindle cells with inflammatory infiltrates and are intermediate-grade tumors. Inflammatory Myofibroblastic Tumor (IMT) has a variant known as Epithelioid Inflammatory Myofibroblastic Sarcoma (EIMS) with aggressive behavior. Morphologically they have round to epitheliod cells that are positive for the Anaplastic Lymphoma Kinase (ALK) receptor tyrosine kinase. The abdomen and pelvis are the most common sites of involvement. Children and young adults are frequently affected. We report a rare case of EIMS arising on the serosal aspect of the ileocaecal junction in a 33-year-old male patient. Morphologically there were sheets and loose fascicles of epithelioid cells admixed with inflammatory cells in a variably myxoid background. Tumor cells were positive for Vimentin, Desmin, CD30, and Smooth muscle actin and showed cytoplasmic and nuclear membrane ALK positivity. Molecular studies in our case showed rearrangement of ALK by Vysis LSI ALK dual color break apart FISH probe. To our knowledge, this is the fifty-ninth reported case to date. Our case report highlights the clinical, histopathological, and immunohistochemical features of EIMS. Given their rarity and novelty, increased understanding and correct identification of the histological and immunohistochemical features of EIMS can result in an accurate diagnosis and focused treatment.</p></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"35 ","pages":"Article 300726"},"PeriodicalIF":0.0,"publicationDate":"2023-12-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772736X23000361/pdfft?md5=2b3b8d08e3da92d5ddf457c6a41dd09b&pid=1-s2.0-S2772736X23000361-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138557584","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}
Utku Ekin , Ahmad M. Alkhatatneh , Lan Wang , Mourad Ismail
{"title":"An unusual location of micronodular thymoma with lymphoid stroma: A posterior mediastinal mass invading into pleura","authors":"Utku Ekin , Ahmad M. Alkhatatneh , Lan Wang , Mourad Ismail","doi":"10.1016/j.hpr.2023.300725","DOIUrl":"https://doi.org/10.1016/j.hpr.2023.300725","url":null,"abstract":"<div><p>Micronodular thymoma with lymphoid stroma (MNTL) is a rare type of thymoma that is often found alongside Type A thymoma. Here, we present a case of MNTL diagnosed in an 82 year-old-female who had a thymus excision seven years prior. The posterior mediastinal mass was discovered incidentally in this patient after a mechanical fall and diagnostic imaging. The patient underwent a needle biopsy of this mass, the pathology of which initially demonstrated type A thymoma. Several months later, the patient underwent a video-assisted thoracoscopic surgery (VATS) procedure with resection of the mass. Pathology this time showed mixed areas of MNTL, type B3, and focal B2 types of thymoma. The location and the histological morphology of this tumor were unique. Treatment approaches to such cases should be multidisciplinary and individualized.</p></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"34 ","pages":"Article 300725"},"PeriodicalIF":0.0,"publicationDate":"2023-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49847657","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Hepatic Langerhans cell histiocytosis: Report of a rare case","authors":"Renling Yao , Jun Chen , Jie Li","doi":"10.1016/j.hpr.2023.300723","DOIUrl":"https://doi.org/10.1016/j.hpr.2023.300723","url":null,"abstract":"<div><p>Langerhans cell histiocytosis (LCH) is a rare neoplastic disease characterized by abnormal proliferation of Langerhans cells infiltrating various organs, resulting in organ dysfunction. In some patients, the BRAFV600E mutation can be detected. Histopathology reveals a substantial proliferation of Langerhans cells, contributing significantly to the diagnosis of LCH. Clinical manifestations vary depending on the affected tissues or organs. LCH occurs less frequently in adults than in children, and clinicians often lack sufficient awareness of this disease, making it susceptible to misdiagnosis. In this report, a case of liver injury caused by Langerhans cell invasion is presented, as confirmed by a liver biopsy in adults.</p></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"34 ","pages":"Article 300723"},"PeriodicalIF":0.0,"publicationDate":"2023-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49847656","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Harry James Gaffney , Sonja Klebe , Kais Kasem , Sarita Prabhakaran
{"title":"Solitary calcifying fibrous tumour of the pleura: A case report and literature review","authors":"Harry James Gaffney , Sonja Klebe , Kais Kasem , Sarita Prabhakaran","doi":"10.1016/j.hpr.2023.300724","DOIUrl":"https://doi.org/10.1016/j.hpr.2023.300724","url":null,"abstract":"<div><p>Calcifying fibrous tumours of the pleura (CFTPs) are extremely rare benign tumours with uncertain aetiology, with only 34 cases, including this one, reported worldwide to date. CFTPs commonly originate from subcutaneous and deep soft tissues of the gastrointestinal tract and pleura. It is essential to differentiate CFTP from other pleural intrathoracic masses that present similarly but are challenging with radiological imaging alone. As a result, excision via surgical intervention alongside immunohistological and histological assessment is the current best method for definitive diagnosis. Due to the significantly low incidence of CFTP, extensive sample studies for further research are currently not possible. As a result, all cases of CFTP should be reported to help improve future research in diagnostic accuracy and understanding of pathogenicity and aetiology. We are reporting a case of an incidentally detected CFTP on CT in a 30-year-old female.</p></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"34 ","pages":"Article 300724"},"PeriodicalIF":0.0,"publicationDate":"2023-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49847653","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"High-risk HPV associated carcinoma with trophoblastic differentiation. A case report highlighting features of an aggressive somatic malignancy with elevated BHCG levels","authors":"Rubina Razack , Haleema Addae , Pei Hui","doi":"10.1016/j.hpr.2023.300722","DOIUrl":"https://doi.org/10.1016/j.hpr.2023.300722","url":null,"abstract":"<div><p>We report a case of a poorly differentiated somatic carcinoma with trophoblastic differentiation of the cervix in a 29-year-old woman. Her recent antecedent pregnancy, rising serum Beta-Human Chorionic Gonadotropin titres and cervical based site raised the possibility of a non-choriocarcinomatous gestational trophoblastic neoplasm. The available tumor morphology, although not classic, was suggestive of epithelioid trophoblastic tumor (ETT). Immunohistochemistry was equivocal in separating the two differential diagnoses of a carcinoma with trophoblastic differentiation versus an ETT. Genotypic analysis revealed that the tumor harboured an identical genetic profile to that of the normal tissue, excluding the possibility of an ETT. High-risk human papilloma virus (HPV) testing using a highly sensitive real-time PCR method confirmed the presence of an HPV16 subtype. We concluded that the tumor represents a poorly differentiated HPV associated squamous cell carcinoma.</p></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"34 ","pages":"Article 300722"},"PeriodicalIF":0.0,"publicationDate":"2023-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49847654","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}