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BACKGROUND: Recent evidence suggests that the tumor stem cells that are responsible for the pathogenesis of gliomas have similar properties to those of neural stem cells. We have studied two of the most consistently expressed stem cell markers in gliomas, i.e., CD133 and Nestin, and compared them with respect to p53 expression and IDH status. OBJECTIVES: To assess the level of expression of Nestin and CD133, and identify a correlation among various grades of diffuse glioma with IDH status and expression of p53. MATERIALS AND METHODS: A cross-sectional retrospective study with 102 subjects for the expression of cancer stem cell markers; CD133 and Nestin and the correlation of their expression with that of p53 and IDH1 status in adult diffuse glioma. The study was conducted in the Departments of Pathology and Neurosurgery. The expression was assessed by immunohistochemistry on formalin-fixed paraffin-embedded sections. The scoring of expression of CD133 and Nestin was adapted from Zhang et al. The scoring for p53 was adopted from Aruna et al. Results: The diffuse gliomas were graded based on WHO into grade II (30.3%), grade III (28.4%), and grade IV (41.3%). Among WHO grade IV, 59.4% were primary, and 40.4% were secondary glioblastomas. 73% of the diffuse gliomas were IDH mutant, and p53 showed an overall expression of 76.4%. The expression of CD133 and Nestin were compared with the increasing grades of diffuse gliomas, which, when plotted on ROC curves, had AUCs of 0.6806 and 0.6119, respectively. Their expression showed a positive correlation with the IDH status of the tumor. CONCLUSIONS: Cancer stem cell markers CD133 and Nestin are expressed in diffuse glioma and have a higher expression with increasing WHO grade of malignancy. These cancer stem cell markers have shown significant association with the IDH-1 mutant status of diffuse gliomas. Hence, it can be inferred that diffuse gliomas with a higher expression of CD133 and Nestin have a poorer prognosis. Further, these cancer stem cell markers may be used as therapeutic targets in the future.
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Pleuropulmonary blastoma (PPB) is a rare malignant tumor arising from the lung and pleura. It has three types based on the solid and cystic components. The prognosis of PPB varies depending on the type. Here, we present two female patients who come with complaints of breathlessness. Contrast-enhanced computed tomography (CECT) chest showed a pleural-based mass. Biopsy from the pleural-based mass showed a tumor with features of the malignant mesenchymal tumor. Tumor cells in both cases were positive for vimentin and negative for PanCK. In addition, tumor cells of one case showed positive for BCL2 and α-1 antitrypsin and negative for desmin, CD99, NSE, and p53. Tumor cells of another case are negative for CD99, WT-1, S100, synaptophysin, and chromogranin. In addition, some of the cells have abundant eosinophilic cytoplasm. Desmin shows positive in many cells and highlights rhabdomyoblasts. Morphological and immunohistochemical findings were correlated with the CECT diagnosis of PPB. Both cases were started on neoadjuvant chemotherapy and kept under follow-up. Both the patient's condition improved.
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BACKGROUND: Myeloid sarcoma (MS) is a tumor mass comprising myeloid blasts with or without maturation occurring in any site other than bone marrow. It is a rare and distinct clinical presentation of myeloid neoplasm. MATERIALS AND METHODS: This is a retrospective study over 7 years (2015-2022) comprising a series of eight cases, which includes clinical details, morphology, immunohistochemistry (IHC) markers, cytogenetics, and molecular details. RESULTS: These cases showed up as an isolated MS (3/8), as an initial clinical presentation in acute myeloid leukemia (1/8), as acute myeloid leukemia (1/8), as a disease progression in primary myelofibrosis (1/8), as chronic myeloid leukemia (1/8), and as BCR-ABL-negative myelodysplastic syndrome/myeloproliferative neoplasm (1/8). One of the three isolated MS was incorrectly identified as having Ewing's sarcoma. One case each presented at the cervical lymph node, mediastinum, skin, sacral soft tissue, maxillary sinus, and perinephric fat, and two cases presented at the hard palate. CONCLUSION: Four of the cases in our study were clinically thought of as lymphoma/sarcoma, which was a major diagnostic challenge. All but one case succumbed to their disease. Without adequate clinical history and appropriate use of ancillary techniques such as IHC in tissue biopsies, flow cytometry, cytogenetics, and molecular studies, these cases have a high chance of being misdiagnosed as non-Hodgkin lymphoma, small round blue cell tumor, or undifferentiated carcinomas, which can complicate patient management and prognosis.
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INTRODUCTION: Diffuse glioma constitutes 28% of primary brain tumors. Until recently morphologic appearance was the only criterion for classifying these tumors. However, WHO 2016 incorporates molecular information in the primary diagnosis of gliomas such as Isocitrate dehydrogenase 1 (IDH1), Alpha thalassemia/mental retardation syndrome X inked (ATRX) as well as 1p/19q codeletion on FISH. In a resource-limited setup where FISH is not available, Alpha internexin (INA) has been suggested as a surrogate IHC marker. MATERIAL AND METHODS: Cross-sectional study conducted in the Department of Pathology for two years. Tissue blocks and clinical as well as radiological details were obtained from departmental archives. After assessing the morphologic details, routine IHC markers such as GFAP, Ki67 and P53 along with molecular markers like IDH-1, ATRX, and lNA were applied. RESULTS: Out of 55 cases of diffuse glioma, 23 cases of astrocytoma and 32 cases of oligodendroglioma with an overall mean age of presentation of 41.49 ± 12.47 years. IDH-1 expression among diffuse glioma was 89.1% in our study. Alteration in the ATRX gene expression was observed in 95.7% of astrocytomas. 75% of oligodendrogliomas expressed INA with no significant difference in expression between the two grades. Based on the algorithmic approach using molecular surrogate markers, diffuse gliomas were categorized into six distinct groups. IDH-mutant, ATRX loss of expression astrocytoma and IDH-mutant, INA positive oligodendroglioma are two categories that do not require further molecular testing. This comprises 72.7% of the cases and these do not warrant further workup. CONCLUSION: Implementation of combined phenotypic-genotypic diagnosis with the use of histomorphology and immunohistochemical surrogates for molecular genetic alterations will yield more homogeneous and narrowly defined diagnostic entities which will provide better prognostication and definitive treatment. It also is cost-effective in a resource-limited setup.
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C4d is a byproduct of the activation of the classic and lectin complement pathways. Being routinely used as a marker for antibody-mediated rejection, the significance of C4d in native kidney disease is currently being widely studied. We evaluated glomerular and extraglomerular C4d staining in 82 biopsies of proliferative and nonproliferative glomerulonephritis diagnosed in our institution. The staining pattern of C4d was tabulated in various glomerular diseases. All biopsies of membranous nephropathy including membranous lupus nephritis (Class V) and immune complex-mediated membranoproliferative glomerulonephritis (MPGN) consistently showed C4d deposits along glomerular basement membrane mirroring the location of immunoglobulin and complement in these conditions. Conversely, other glomerular diseases like IgA nephropathy, postinfectious glomerulonephritis, focal segmental glomerulosclerosis, minimal change disease, and diabetic nephropathy showed variable mesangial and capillary wall C4d deposits. To summarize, the consistent pattern of C4d staining in membranous nephropathy (primary and secondary)and immune complex-mediated MPGN can be used as a valuable adjunct tool in establishing the diagnosis, especially when immunofluorescence findings are limited by inadequate sampling.C4d reactivity in other glomerular diseases are variable and may not aid as a diagnostic tool in renal biopsy evaluation.
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Glomerulonefritis por IGA , Glomerulonefritis Membranosa , Glomerulonefritis , Humanos , Glomerulonefritis Membranosa/diagnóstico , Colorantes , Complejo Antígeno-Anticuerpo , InmunohistoquímicaRESUMEN
Objectives: Angiogenesis is one of the main characteristic features of malignant gliomas. Phosphorylated signal transducer and activator of transcription factor 3 (pSTAT3) is not only involved in glioma cell proliferation, anti-apoptosis, and immunosuppression but also plays a key role in cell migration and invasion. Constitutively, activated pSTAT3 induces expression of vascular endothelial growth factor (VEGF) and its receptor VEGFR, leading to endothelial cell proliferation and abnormal microvascular formation causing peritumoral edema (PTE). PTE is one of the significant contributors to mortality in malignant gliomas. Therefore, understanding the molecular mechanism involved in the evolution of gliomas is necessary. This study was to assess the level of expression of pSTAT3, VEGF, and VEGFR in malignant gliomas and analyze the extent of PTE and the extent of expression of one or more of these markers. Materials and Methods: This study included 84 patients categorized as per the World Health Organization classification of central nervous system tumors into grade IV, III, and II gliomas to investigate the expression of pSTAT3, VEGF, and VEGFR by immunohistochemistry. Furthermore, the presence or absence of PTE was determined using magnetic resonance imaging/computed tomography scans in these patients. Results: The association between the markers (pSTAT3, VEGFR, and VEGF) and the extent of PTE in these patients was statistically significant (P < 0.05). Conclusion: The pSTAT3, VEGF-R, and VEGF signaling pathways could contribute to peritumoral edema and might be a regulatory mechanism during PTE formation during tumorigenesis and progression.
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Residual renal histopathological activity at clinical remission in Proliferative Lupus Nephritis (PLN) can predict renal flare upon immunosuppression withdrawal. Data on the role of histological renal remission in predicting extra-renal flares is lacking. We assessed renal histopathology prior to drug withdrawal and the occurrence of renal and extra-renal flares over 52 weeks after drug withdrawal in PLN patients in long-term clinical remission. This is a subgroup analysis of a non-inferiority, open-label randomized (1:1) controlled trial. Patients with biopsy-proven Class III/IV LN in the past (biopsy 1), on immunosuppressants (IS) ≥ 3 years, in clinical remission for ≥ 1 year, on stable prednisolone dose (≤ 7.5 mg/day) plus a maintenance IS and hydroxychloroquine (HCQ) were subjected to a repeat renal biopsy (biopsy 2). Individuals with biopsy 2 having activity index (AI) < 4/24 were randomised to either prednisolone or IS withdrawal. Primary end-point was the proportion experiencing a flare [SELENA-SLEDAI flare index (SFI)] at week 52. Twenty-eight eligible patients underwent biopsy 2 and randomized to prednisolone (n = 15) and IS (n = 13) withdrawal. At biopsy 1, 12 (43%) had class III, 15 (53.5%) had class IV, and 1 (3.5%) had class III + V. At biopsy 2, PLN persisted in 4 (14.2%) while 18 (64.2%) were in histological remission (AI = 0) with 6 (21.4%) in class II. Following drug withdrawal, 9/28 (32%) had flares especially musculoskeletal (55.5%), mucocutaneous (44.4%), and renal (33.3%). Among the four persistent PLN patients, one of the two (50%) with AI = 1 had extra-renal flare while both the two with AI = 2 (100%) had renal and extra-renal flares. In those with histological remission (biopsy 2), 6/18 (66.6%) experienced extra-renal flare of whom one also had renal flare. Upon drug withdrawal, renal histopathology findings with any activity index can predict renal flare while histological remission is not enough to predict extra-renal flare, thus making it an unsuitable marker for deep SLE remission.
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Background. Extragonadal germ cell tumors (EGCTs) are a rare heterogeneous group of tumors without evidence of primary gonadal germ cell tumors. They account for 2%-5% of overall malignancies. EGCTs are often not clinically suspected, making them challenging for pathologists. In this retrospective observational study, we describe our institutional experience among EGCTs with clinicopathological correlation. Materials and methods. All patients diagnosed as EGCTs from January 2014 to April 2023 were collected. All relevant clinical data and serum markers were retrieved from hospital medical records. Histopathology and immunohistochemistry slides were reviewed. Results. The present study included a total of 56 patients; 34 (60%) men and 22 (40%) women with a men-to-women ratio of 1.5:1. Of them, 1 patient had congenital/neonatal EGCTs, 21 patients had prepubertal EGCTs, and 34 had post-pubertal EGCTs. The common sites included are mediastinum (45%), sacrococcyx (18%), retroperitoneum (14%), and central nervous system (12%). The other rare sites were the vagina, liver, colon, and duodenum. The common germ cell tumor included mature teratoma (34%), mixed germ cell tumor (27%), seminoma/germinoma (12%), pure yolk sac tumor (11%), immature teratoma (9%), mature teratoma with somatic tumor (5%), and embryonal carcinoma (2%). All histological diagnoses of germ cell tumors were confirmed with IHC markers like PLAP, CD117 (KIT), AFP, LIN28, CD30, and ß-hCG. Pre and posttreatment serum tumor marker levels were available in 37 patients. All our treated patients had a decrease or normal tumor marker levels post-therapy. Conclusion. In our study, a heterogeneous group of germ cell tumors was seen. Most of them were seen in post-pubertal adolescents and young adults. Early intervention by platinum-based combination chemotherapy in seminoma and nonseminomatous germ cell tumors has significantly improved the prognosis of malignant EGCTs similar to their germ cell counterparts.
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To study the clinical, paraneoplastic hematological presentation of Sertoli Leydig cell tumor patients. This retrospective study involved women with Sertoli Leydig cell tumors treated at JIPMER from 2018 to 2021. We reviewed the hospital registry for the Sertoli Leydig cell tumor among all the ovarian tumors being treated in the department of obstetrics and gynecology. We retrieved the datasheets of patients with Sertoli Leydig cell tumor and studied their clinical and hematological presentation, their management, complications, and follow-up. We had 5 patients of Sertoli Leydig cell tumor of 390 ovarian tumors operated during the study period. The mean age at presentation was 31.6 years. All 5 patients had hirsutism and menstrual irregularity. One patient presented with symptoms of polycythemia along with these complaints. Elevated serum testosterone was seen in all (mean being 688 ng/ml). Mean preoperative hemoglobin was 15.84%, and mean hematocrit was 50.14%. Fertility-sparing surgery was performed in 3 of them and the rest had complete surgery. All patients were in Stage IA. Histologically, one had Pure Leydig cell, three had steroid cell tumor not otherwise specified and one was mixed Sertoli Leydig cell tumor. After the operation, the hematocrit and testosterone levels came down to the normal range. The virilizing manifestations regressed over 4-6 months. With a follow-up period ranging from 1 to 4 years, all 5 patients are alive, one patient had a disease recurrence in the ovary after 1 year of primary surgery. She is disease-free following the second surgery. The rest of the patients had no disease recurrence and are disease-free following surgery. Virilizing ovarian tumors can have paraneoplastic polycythemia which needs to be looked into while evaluating these patients. Similarly, while evaluating polycythemia in young females, an androgen-secreting tumor has to be ruled out as it is reversible and completely treatable.
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OBJECTIVES: Membranous nephropathy (MN), also called membranous glomerulopathy, is one of the leading causes of nephrotic syndrome in adults which is defined by the presence of subepithelial immune complex deposits with a spectrum of changes in the glomerular basement membrane (GBM). It is known that C4d is a byproduct of the classic and lectin pathway. There is deposition of C4d noted in the cases of immune complex-mediated glomerulonephritis involving the classical/lectin pathway including MN. The main objective of this study is to assess the utility C4d as an immunohistochemical (IHC) stain in MN. MATERIALS: A total of 43 cases of MN (primary & secondary) were taken, and 39 cases of minimal change disease (MCD)/focal segmental glomerulosclerosis (FSGS) were used as the control group. All the relevant data were retrieved from the hospital database. C4d immunohistochemistry was performed in the cases as well as the control group. RESULTS: A diffuse continuous staining pattern in the glomeruli was observed in cases of primary MN whereas a discontinuous staining in the glomerulI favors a secondary MN. 26/29 cases of MCD showed positivity in the podocytes. Among the cases of FSGS, 7/10 cases showed positivity in the podocytes with 3 cases showing an associated mesangial blush pattern of staining. CONCLUSION: Very few studies are available demonstrating the importance of C4d IHC in MN. C4d IHC can be a useful adjunct for immunofluorescence, especially in cases of early MN.
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Chronic or persistent, nonhealing perianal ulcers could be due to an infection, inflammation, or a neoplasm. Perianal ulcer as the initial presentation of tuberculosis is rare. Tuberculosis cutis orificialis is a rare ulcerative form of cutaneous tuberculosis that affects the oral cavity, anal canal, or perianal region. A high index of suspicion for tuberculosis as the cause of persistent perianal ulcer is required for early diagnosis and treatment.
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Yolk sac tumor is a malignant germ cell tumor, which typically occurs in the gonads with elevated serum alpha-fetoprotein (AFP). Among extragonadal sites, the liver is an uncommon location for primary pediatric yolk sac tumors. Other common hepatic tumors in this age group presenting with elevated serum AFP like hepatoblastoma and hepatocellular carcinoma must be differentiated from yolk sac tumors for initiating appropriate treatment and accurate prognostication. Lung metastasis with refractoriness to chemotherapy is an extraordinary presentation that has never been documented in the literature. We report our experience with a 2-year-old female child initially misdiagnosed as hepatoblastoma. It was found that LIN28 positivity by immunohistochemistry aided in confirmation of the histopathological diagnosis of primary yolk sac tumor of the liver.
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Tumor del Seno Endodérmico , Hepatoblastoma , Neoplasias Pulmonares , Niño , Preescolar , Femenino , Humanos , alfa-Fetoproteínas , Tumor del Seno Endodérmico/diagnóstico , Tumor del Seno Endodérmico/patología , Hepatoblastoma/diagnóstico , Inmunohistoquímica , Hígado/patología , Neoplasias Pulmonares/diagnósticoRESUMEN
Metastasis accounts for the most common tumor of the central nervous system (CNS) in adults. Renal cell carcinoma (RCC) is one of the common carcinoma showing brain metastasis, with a predilection for clear cell variant. Chromophobe RCC (ChRCC) in contrast to clear cell RCC shows far less common distant metastasis. When they metastasize, commonly involve the liver, lungs, and lymph nodes. ChRCC metastasizing to the brain is extremely rare. Isolated brain metastasis from RCCs is also uncommon. We report an unusual case of a 54-year-old woman with ChRCC with isolated metastasis to the brain, 2 years after radical nephrectomy for renal mass.
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Neoplasias Encefálicas , Carcinoma de Células Renales , Neoplasias Renales , Adulto , Femenino , Humanos , Persona de Mediana Edad , Carcinoma de Células Renales/diagnóstico , Carcinoma de Células Renales/cirugía , Carcinoma de Células Renales/patología , Neoplasias Renales/diagnóstico , Neoplasias Renales/cirugía , Neoplasias Renales/patología , Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/secundario , Nefrectomía , Ganglios Linfáticos/patologíaRESUMEN
[This corrects the article DOI: 10.1007/s13193-022-01585-9.].
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BACKGROUND: Coexistent malignancy and tuberculosis (TB) are rarely encountered. Cancer patients are a highly vulnerable subgroup during this Covid crisis. Delayed treatment for malignancy because of COVID-19 pandemic leads to higher chances to get infections. PURPOSE: The present study aimed to present the clinicopathologic profile of the patients with coexistent carcinoma and TB during the COVID-19 pandemic in a tertiary care center. MATERIALS AND METHODS: This was a retrospective study conducted during the COVID-19 pandemic between April 2020 to May 2021 in the Department of Pathology of our Institute. 11 patients with coexistent malignancy and caseous necrotizing granulomatous inflammation with Langhans giant cells and or acid-fast bacilli (AFB) positivity were included in the study. Cases of ill-defined granulomas coexistent malignancy were excluded. We studied varied clinical and histopathologic features of these cases. RESULTS: Eleven cases were reported with coexistent malignancy and tuberculosis, of which 8 were reported in 2021 and 3 cases were reported in 2020. Adenocarcinoma comprised 9 cases (81.8%) and the remaining 2 were squamous cell carcinoma (18.1%). Out of 11, 10 (90.9%) were new TB cases. Of these, 10 were extrapulmonary TB and one pulmonary TB case with cancer. Regarding chemotherapy, four patients accepted that chemotherapy was delayed because of the COVID-19 crisis. CONCLUSION: In this covid pandemic, India being the 2nd most populous country and endemic for TB, there is a higher chance of latent and active TB. The coexistence of two different pathologies is rare, even in a region with a high incidence of TB. Delayed chemotherapy in a pandemic situation leads to an increased incidence of infectious diseases such as TB.
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BACKGROUND: Dermoscopy is useful in the diagnosis of basal cell carcinoma (BCC). However, most descriptions of the dermoscopic features of BCCs are in Caucasians (skin types I-III) and there is a paucity of data in dark-skinned Indian patients. AIMS: The aim of this study was to describe the various dermoscopic features of BCC in dark-skinned patients from South India and correlate these with the histopathologic subtypes. METHODS: A retrospective observational study of biopsy-proven cases of BCC was conducted at a tertiary care center in South India using nonpolarized contact dermoscopy. RESULTS: Sixty BCCs in 35 patients predominantly of skin phototypes IV or V were studied. These included 32 nodular, 27 superficial and 1 infiltrative type of BCC. The most common dermoscopic features noted were maple leaf-like areas (61.7%), blue-white veils (53.4%), ulceration (48.4%) and short fine telangiectases (46.7%). Ulceration, blue-white veils and arborizing vessels were significantly associated with nodular BCCs, while maple leaf-like areas, red-white structureless areas, multiple small erosions and spoke wheel areas were noted with superficial BCCs. LIMITATIONS: The limitations of this study include its retrospective nature, the use of only nonpolarized light for examination, the lack of other histopathological variants of BCC as well as the lack of a comparison group. CONCLUSION: We report a dermoscopic study of BCC in dark-skinned patients from Puducherry, South India. The blue-white veil was observed in half of the patients and was significantly associated with nodular BCCs. The addition of the blue-white veil to the diagnostic criteria for pigmented BCC could improve the diagnostic accuracy of dermoscopy in Indian patients.
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Carcinoma Basocelular , Neoplasias Cutáneas , Humanos , Neoplasias Cutáneas/diagnóstico , Neoplasias Cutáneas/epidemiología , Neoplasias Cutáneas/patología , Estudios Transversales , Estudios Retrospectivos , Pigmentación de la Piel , Dermoscopía , Carcinoma Basocelular/diagnóstico por imagen , Carcinoma Basocelular/epidemiologíaRESUMEN
INTRODUCTION: Sarcomas of vascular origin are rare. A case of Ewings sarcoma of Inferior Vena Cava [IVC] is reported here. REPORT: A 36-year-old lady presented with a 6-month history of bilateral pitting lower limb swelling and 1-month history of vaginal bleeding. Contrast-enhanced computed tomography of the thorax and abdomen revealed a soft tissue lesion extending from the cavoatrial junction to the junction of the middle hepatic vein with IVC. She underwent IVC resection (suprahepatic) and left lateral hepatectomy with dacron graft reconstruction. The pathology was suggestive of Ewings sarcoma and she received adjuvant chemotherapy. CONCLUSION: Preoperative tissue diagnosis can be considered in vascular tumors to sequence the various treatment modalities for improved outcomes.