Human Pathology: Case Reports最新文献

{"title":"A case report of a patient with a Leydig cell tumor, poor blood pressure control, and ventricular septal hypertrophy","authors":"Zuoan Qin ,&nbsp;Jiangbiao Yu ,&nbsp;Ning Guo","doi":"10.1016/j.ehpc.2020.200463","DOIUrl":"10.1016/j.ehpc.2020.200463","url":null,"abstract":"<div><h3>Purpose</h3><p>We report the first case of a testosterone-secreting Leydig cell tumor of the ovary in an elderly female patient with hyperandrogenism, who had poor blood pressure control and a thickened ventricular septum. After surgical removal of an ovarian Leydig cell tumor, the patient’s blood pressure improved, as well as her ventricular septal hypertrophy significantly at the 2-year follow-up.</p></div><div><h3>Case summary</h3><p>After menopause, a 76-year-old woman began presenting with increasing facial and body hair, masculine appearance, and deepening voice. The patient had a history of hypertension for more than 10 years, coronary atherosclerosis, and an old cerebral infarction. She reported the long-term use of nifedipine 30 mg + perindopril 4 mg + metoprolol 47.5 mg for antihypertensive treatment, yet her blood pressure was still poorly controlled. The results of the laboratory, radiological, and pathological examinations for this case are described, and the patient was followed up for 2 years. In addition, the relevant literature was reviewed. Blood test results revealed elevated levels of estradiol (332.95 Pmol/L [nl range: 73.4–172.49 Pmol/L]), testosterone 25.27 nmol/L [nl range: 0.52–2.43 nmol/L]) and 17α-OHP (3.0 ng/mL [nl range: &lt;0.93 ng/mL]). After excluding adrenal gland dysfunction as a potential cause, the patient underwent laparoscopic total hysterectomy + bilateral salpingo-oophorectomy under general anesthesia and was diagnosed with an ovarian Leydig cell tumor. Postoperative re-examination indicated a decrease in her estradiol (158.3 Pmol/L), and testosterone levels (1.45 nmol/L). Her blood pressure and other clinical symptoms had improved significantly. The patient's ventricular septal hypertrophy had improved significantly by the 2-year follow-up.</p></div><div><h3>Conclusion</h3><p>A testosterone-secreting Leydig cell tumor of the ovary can be the primary cause of poorly controlled hypertension and aggravated ventricular septal hypertrophy.</p></div>","PeriodicalId":38075,"journal":{"name":"Human Pathology: Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ehpc.2020.200463","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45637377","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":"Histopathologic findings of TAFRO syndrome with immunohistochemical analysis of the kidney specimen: A case report","authors":"Taiki Sato ,&nbsp;Yuko Ono ,&nbsp;Jun Matsushima ,&nbsp;Akiko Fujii ,&nbsp;Yoko Sato ,&nbsp;Yuji Hidaka ,&nbsp;Shinya Kawamoto ,&nbsp;Atsunori Yoshino ,&nbsp;Tetsuro Takeda ,&nbsp;Yoshihiko Ueda ,&nbsp;Shinichi Ban","doi":"10.1016/j.ehpc.2020.200471","DOIUrl":"10.1016/j.ehpc.2020.200471","url":null,"abstract":"<div><p>TAFRO (Thrombocytopenia, Anasarca, Fever and/or elevated C-reactive protein, Renal dysfunction or Reticulin fibrosis, and Organomegaly) syndrome is a unique systemic inflammatory disease, which has recently been proposed from Japan. We report a case showing TAFRO symptoms, the patient’s condition of which allowed histopathological examinations of several biopsy tissues including the kidney.</p><p>A 37-year-old man was admitted to our hospital for evaluation of fever of unknown origin, pleural effusion and ascites, renal dysfunction, and lymphadenopathy. Serum IL-6 and VEGF were elevated. Histopathologic findings of the lymph node resembled those of mixed type Castleman disease. The bone marrow biopsy specimen revealed normocellular marrow with a mildly increased number of megakaryocytes, but without obvious fibrosis. The renal biopsy material showed glomerular microangiopathy with double contour of the capillary loops and mesangiolysis. In immunohistochemistry, VEGF was retained in podocytes, whereas IL-6 expression was not limited to the specific sites. Glomerular microangiopathy is regarded as a crucial change in TAFRO syndrome, which should be studied further with regard to VEGF and IL-6.</p></div>","PeriodicalId":38075,"journal":{"name":"Human Pathology: Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ehpc.2020.200471","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42912233","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":"An unusual presentation of blast phase in JAK 2 mutated polycythemia vera","authors":"Latha Abraham ,&nbsp;Mobin Paul","doi":"10.1016/j.ehpc.2020.200460","DOIUrl":"10.1016/j.ehpc.2020.200460","url":null,"abstract":"<div><p>Leukemic transformation in Polycythemia Vera (PV) is described as a rare and late event, less common than primary myelofibrosis (PMF). Blast phase in PV (PV-BP) develops at a median time of 12.8 years from diagnosis which implies a long-lasting exposure to myelosuppressive agents. Acute megakaryocytic leukemia (FAB M7) and acute myelomonocytic leukemia (FAB M4) are the common morphologic types described in blast phase of myeloproliferative neoplasms (MPN). Here we report a case of a 61 year old male who progressed to blast phase within three years of diagnosis of PV and was on cytoreduction with hydroxyurea. The leukemic transformation occurred in the form of pure erythroid leukemia (FAB M6) and was not preceded by a phase of documented post PV myelofibrosis (post PV- MF). The unusual features in this case include the short period from initial diagnosis to leukemic transformation and the uncommon morphologic subtype.</p></div>","PeriodicalId":38075,"journal":{"name":"Human Pathology: Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ehpc.2020.200460","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47714460","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":"Type B3 thymoma associated membranous nephropathy: A rare case and review of the literature","authors":"Sakda Sathirareuangchai ,&nbsp;Jayati Mallick ,&nbsp;Allen R. Hendricks ,&nbsp;Jose R. Torrealba","doi":"10.1016/j.ehpc.2021.200479","DOIUrl":"10.1016/j.ehpc.2021.200479","url":null,"abstract":"<div><p>Thymoma can cause several autoimmune conditions in a number of patients. Nephrotic syndrome is considered to be a rare systemic manifestation from thymic lesions. The most common renal pathology associated with thymoma is minimal change disease (MCD). Herein, we reported a case of 58-year-old man with type B3 thymoma, who developed nephrotic syndrome after the tumor recurrence. The renal biopsy showed the morphologic features of membranous nephropathy (MN). Both immunofluorescent study and serum level for phospholipase A2 receptor (PLA2R) antibody were negative, suggesting a secondary type. Literature review suggests that there is a correlation between thymoma subtype and renal pathology, i.e. lymphocyte predominant thymoma (type B1, B2) is associated with MCD, while type B3 thymoma is associated with MN.</p></div>","PeriodicalId":38075,"journal":{"name":"Human Pathology: Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ehpc.2021.200479","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42350929","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":"Epithelioid hemangioendothelioma of breast with nodal metastasis masquerading as breast carcinoma: An unusual case with review of literature","authors":"Trupti Pai ,&nbsp;Tanuja Shet ,&nbsp;Asawari Patil ,&nbsp;Vani Parmar ,&nbsp;Tabassum Wadasadawala ,&nbsp;Sangeeta B. Desai","doi":"10.1016/j.ehpc.2020.200465","DOIUrl":"10.1016/j.ehpc.2020.200465","url":null,"abstract":"<div><p>Epithelioid Hemangioendothelioma (EHE) is a vascular tumour with intermediate malignant potential which rarely occurs in the breast. We report a unique case of EHE of breast that presented with nodal metastases along with the review of literature. This case was initially misdiagnosed on fine needle aspiration cytology (FNAC) as breast carcinoma; however, histopathology revealed the characteristic short strands and single cell infiltrating pattern by epithelioid cells embedded in a myxohyaline matrix. The typical intracytoplasmic vacuoles with red blood cells were seen in occasional cell hinting at the vascular nature of tumor. Patchy foci of nuclear atypia, pleomorphism and frequent mitoses were seen. Although focal reactivity for AE1/AE3 initially did lead to a differential diagnosis of carcinoma, diffuse positivity for vascular differentiation markers like CD31, CD34 and FLI-1 clenched the diagnosis of EHE. The patient underwent modified radical mastectomy with axillary dissection with post-operative locoregional adjuvant radiation therapy. Till date, with a follow-up of 36 months patient is fine with no event. To conclude EHE can occur in breast and show nodal metastasis like breast carcinomas. However awareness of histologic features with typical immunohistochemistry (IHC) will assist the diagnosis. Inspite of nodal metastasis patient has an uneventful follow up indicating a non-aggressive behavior of this tumor.</p></div>","PeriodicalId":38075,"journal":{"name":"Human Pathology: Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ehpc.2020.200465","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43628723","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":"Dedifferentiated gastrointestinal stromal tumour with features mimicking malignant PEComa/alveolar soft part sarcoma: An unusual type of morphological transformation following imatinib treatment","authors":"Kankanamage Malinda Amesh Karasinghe,&nbsp;Kesavan Sittampalam","doi":"10.1016/j.ehpc.2020.200457","DOIUrl":"10.1016/j.ehpc.2020.200457","url":null,"abstract":"<div><p>Gastrointestinal stromal tumours (GISTs) are the most common mesenchymal neoplasms of the gastrointestinal tract. Dedifferentiation is a rare phenomenon in GISTs, most often following long-term Imatinib therapy and less frequently in de-novo fashion. According to the literature, the process of dedifferentiation is likely associated with genetic instability, rather than a result of acquisition of novel mutations in the common driver oncogenes. However, the exact underlying molecular basis of dedifferentiation is not well-established. Dedifferentiated GISTs show anaplastic features with loss of immunoreactivity for CD117 and DOG1. In this report, we present a rare and unique case of dedifferentiated metastatic GIST with a very unusual malignant PEComa/alveolar soft part sarcoma-like morphology. The molecular findings of our case also support the concept that dedifferentiation of GIST is independent of acquisition of additional novel mutations in the common driver oncogenes.</p></div>","PeriodicalId":38075,"journal":{"name":"Human Pathology: Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ehpc.2020.200457","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49053634","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":"Immune biomarkers as an adjunct diagnostic modality of infection in cases of sudden and unexpected death in infancy (SUDI) at Tygerberg Medico-legal Mortuary, Cape Town, South Africa","authors":"Corena de Beer ,&nbsp;Birhanu T Ayele ,&nbsp;Johan Dempers","doi":"10.1016/j.ehpc.2021.200477","DOIUrl":"10.1016/j.ehpc.2021.200477","url":null,"abstract":"<div><p>Child mortality is a major health concern worldwide with over 4.2 million infants dying before reaching the age of one year in 2016 alone. Several international intervention initiatives have resulted in a decrease in the number of infant deaths; however, the incidence of sudden unexpected death in infancy (SUDI) and sudden infant death syndrome (SIDS) remain unacceptably high. SIDS still accounts for approximately 50–80% of SUDI cases, followed by infection.</p><p>The aim of this study was to investigate a selection of immune biomarkers that are associated with an immune response in an effort to support the diagnosis of an infectious cause <em>(“Infection”)</em> e.g. bronchopneumonia, interstitial pneumonitis, etc., instead of <em>SIDS</em> in SUDI cases. C-reactive protein and 18 different cytokines were retrospectively quantified in serum collected during post-mortem investigations of SUDI cases admitted to the Tygerberg Medico-legal Mortuary in the Western Cape Province of South Africa between 2015 and 2017. Statistical comparison was done between infants with a final cause of death (COD) of <em>Infection</em> and <em>SIDS</em> to investigate any correlations between the immune markers and sociodemographic information of the groups. A p-value of &lt; 0.0026, after Bonferroni correction for multiple comparisons, was considered as statistically significant.</p><p>A total of 169 cases were included, of which 65 (38.5%) were assigned a cause of death of <em>Infection</em> and 104 (61.5%) <em>SIDS</em> by forensic pathologists. The male to female ratio of the entire group was 1:0.97 and the median age at the time of death was 9 (interquartile range [IQR] 10.9) weeks. The majority (56.8%) of deaths occurred during the colder seasons (autumn and winter) and the median post-mortem interval was 4 (IQR 3) days.</p><p>No statistically significant differences were demonstrated for gender, season, sleeping position or bed-sharing between the <em>Infection</em> and <em>SIDS</em> groups. Age and interleukin-1α were identified as predictors of a COD of <em>Infection</em> before adjusting for the multiple comparisons problem. C-reactive protein was a statistically significant predictor of a COD of <em>Infection</em> even after adjusting for the effect of multiple comparisons.</p><p>The COD is primarily based on histopathology of the lungs, where other causes of interstitial inflammation have been ruled out, and where there are morphological changes present suggestive of infection, but not enough evidence to assign a final COD of <em>Infection</em>, the cases are concluded as <em>SIDS</em>. These biomarkers can therefore be valuable in the investigation protocol of SUDI cases to increase the number <em>Infection</em> cases where the histopathology of the lungs is suggestive of, but does not support conclusive evidence of infection.</p></div>","PeriodicalId":38075,"journal":{"name":"Human Pathology: Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ehpc.2021.200477","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48907712","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 message from the Retiring, Founding Editor-in-Chief","authors":"Jagdish Butany MBBS, MS, FRCPC (Founding Editor, Human Pathology Case Reports)","doi":"10.1016/j.ehpc.2021.200495","DOIUrl":"10.1016/j.ehpc.2021.200495","url":null,"abstract":"","PeriodicalId":38075,"journal":{"name":"Human Pathology: Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ehpc.2021.200495","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43207847","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":"Florid mesenchymal/stromal proliferation in Krukenberg tumours; A case description illustrating this potential diagnostic pitfall","authors":"Nafisat Oyewale MBBS ,&nbsp;Danielle O'Neill MRCOG ,&nbsp;San Soo Hoo MRCOG ,&nbsp;Nabeel Salmons FRCPath","doi":"10.1016/j.ehpc.2020.200469","DOIUrl":"10.1016/j.ehpc.2020.200469","url":null,"abstract":"<div><p>Discrimination between primary ovarian neoplasia and ovarian metastases is important as their management and prognosis are markedly different. We hereby describe the case of a 39 year female who presented with bilateral ovarian masses. Histology of the ovaries predominantly showed a hypercellular and markedly oedematous ovarian stroma with features mimicking a sex-cord stromal tumour. Only with extensive tumour sampling were scant signet ring cells identified, allowing for the diagnosis of bilateral metastatic signet ring adenocarcinoma (Krukenberg tumour) to be made. Our case is used to illustrate and highlight the importance of good morphological assessment, adequate tumour sampling alongside the judicious use of immunohistochemistry and tinctorial staining in the evaluation of an ovarian mass in order to avoid misdiagnosis.</p></div>","PeriodicalId":38075,"journal":{"name":"Human Pathology: Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ehpc.2020.200469","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43016829","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":"Atypical histologic presentation of Pneumocystis pneumonia as granulomatous lung nodules","authors":"Alexander D. Pyden ,&nbsp;Paul A. VanderLaan ,&nbsp;Carolyn D. Alonso ,&nbsp;Stefan Riedel","doi":"10.1016/j.ehpc.2021.200476","DOIUrl":"10.1016/j.ehpc.2021.200476","url":null,"abstract":"<div><p><em>Pneumocystis jiroveci</em> pneumonia (PJP) is classically described as presenting histopathologically as frothy intra-alveolar exudates. Less commonly, it can present with focal granulomatous lesions in patients with or without underlying acquired immune deficiency syndrome (AIDS). Here we present a series of cases of granulomatous PJP in patients without AIDS and describe the key features for diagnosis by histopathology. Histopathology and microbiologic cultures were performed by standard methods. Molecular confirmation of identification was performed by polymerase chain reaction of the fungal ribosomal RNA gene or <em>cdc2</em> gene. Three patients are presented with various causes of immunosuppression who developed granulomatous PJP. The pathology and staining results are reviewed, along with the corollary information required for final diagnosis.</p><p>Granulomatous inflammation is an under-recognized, but not entirely rare, presentation of PJP. Pathologists must be aware of this entity and must be prepared to make the diagnosis in cases where clinical suspicion is low and to differentiate it from other common infectious causes of lung granulomata. Molecular confirmation may be required when histomorphology is not definitive.</p></div>","PeriodicalId":38075,"journal":{"name":"Human Pathology: Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ehpc.2021.200476","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42786774","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}