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Epithelial ovarian cancer (EOC), a leading cause of gynecological cancer-related morbidity and mortality and the most common type of ovarian cancer (OC), is widely characterized by alterations in the Epidermal Growth Factor (EGF) signaling pathways. The phenomenon of metastasis is largely held accountable for the majority of EOC-associated deaths. Existing literature reports substantiate evidence on the indispensable role of metabolic reprogramming, particularly the phenomenon of the 'Warburg effect' or aerobic glycolysis in priming the cancer cells towards Epithelial to Mesenchymal transition (EMT), subsequently facilitating EMT. Considering the diverse roles of growth factor signaling across different stages of oncogenesis, our prime emphasis was laid on unraveling mechanistic details of EGF-induced 'Warburg effect' and resultant metastasis in EOC cells. Our study puts forth Ets1, an established oncoprotein and key player in OC progression, as the prime metabolic sensor to EGF-induced cues from the tumor microenvironment (TME). EGF treatment has been found to induce Ets1 expression in OC cells predominantly through the Extracellular Signal-Regulated Kinase1/2 (ERK1/2) pathway activation. This subsequently results in pronounced glycolysis, characterized by an enhanced lactate production through transcriptional up-regulation of key determinant genes of the central carbon metabolism namely, hexokinase 2 (HK2) and monocarboxylate transporter 4 (MCT4). Furthermore, this study reports an unforeseen combinatorial blockage of HK2 and MCT4 as an effective approach to mitigate cellular metastasis in OC. Collectively, our work proposes a novel mechanistic insight into EGF-induced glycolytic bias in OC cells and also sheds light on an effective therapeutic intervention approach exploiting these insights.
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ABSTRACT: Liposarcoma is a rare mesenchymal neoplasm commonly involving deep soft tissues and the retroperitoneum. Among the various types of liposarcoma, myxoid liposarcoma is the most frequently encountered in adolescents and young adults, with a predilection for lower extremities. Fine needle aspiration allows easy assessment and rapid on-site evaluation for distinguishing benign from malignant lipomatous lesions. Here, we present a case of myxoid liposarcoma in the calf region of a 19-year-old boy, diagnosed via fine needle aspiration cytology, and subsequently confirmed by histopathological examination after surgical resection. The intention behind this case report is to highlight the cytological features of myxoid liposarcoma and to improve understanding of this tumor entity, aiming to prevent misdiagnosis by inexperienced pathologists when evaluating cytology specimens.
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Renal cell carcinomas are known for their unforeseeable metastatic pattern. They are known to have high metastatic potential, thus commonly associated with synchronous or metachronous metastatic presentation. At the time of diagnosis, approximately one-third of patients present with metastatic disease. We present a case of synchronous metastasis of clear cell carcinoma to the gallbladder in a 54-year-old male within two months after radical nephrectomy.
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Carcinoma de Células Renales , Neoplasias Renales , Humanos , Masculino , Persona de Mediana Edad , Carcinoma de Células Renales/diagnóstico , Carcinoma de Células Renales/cirugía , Carcinoma de Células Renales/patología , Neoplasias Renales/patología , NefrectomíaRESUMEN
ABSTRACT: Anemia coexisting with Gaucher disease (GD) is often associated with non-hemolytic processes. Few cases of GD with autoimmune hemolytic anemia have been reported. However, literature on GD with concomitant nonimmune hemolytic anemia is scarce. A 1-year 6-month-old male child presented in 2018 with complaints of palpable mass in left upper abdomen, fever, cough, and vomiting. On examination, he had pallor, hepatosplenomegaly of 2 cm and 8 cm below costal margin, respectively. A clinical diagnosis of hemolytic anemia was suspected. Complete blood count revealed Hb---6.7 g/dL, TLC---8.9 × 10 3 /µL, platelet count---180 × 10 3 /µL. Peripheral smear showed predominantly microcytic hypochromic anemia with moderate degree of anisocytosis, many nucleated red blood cells, few schistocytes, polychromatophils and corrected reticulocyte count 7.89%. S. Bilirubin was 1.1 mg/dL. Hb high-performance liquid chromatography (HPLC) of the child and his parents was within normal limit. Hematological work up revealed negative results for direct Coombs' test, osmotic fragility test, and sickling test. Test for Glucose-6-phosphate dehydrogenase deficiency was positive (39 units/trillion RBC, normal 146--376). He was transfused intermittently and given steroids to manage his anemia. He was on regular follow up during which his blood counts revealed persistent anemia and thrombocytopenia. In view of this, bone marrow was performed to exclude myelofibrosis. Aspirate smears were cellular and showed normoblastic erythroid hyperplasia. Numerous large histiocytes with basophilic fibrillary cytoplasm exhibiting "crumpled tissue paper" appearance were seen. Similar findings were seen on bone marrow trephine biopsy. Genetic testing revealed pathogenic variations in the GBA gene. Beta glucosidase enzyme levels were low while chitotriosidase was raised (1109.19 nmol/hr/mL). A final diagnosis of G6PD with GD was made. The present study shows rare association of GD with Glucose-6-phosphate dehydrogenase deficiency.
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Enfermedad de Gaucher , Deficiencia de Glucosafosfato Deshidrogenasa , Humanos , Enfermedad de Gaucher/complicaciones , Enfermedad de Gaucher/genética , Enfermedad de Gaucher/diagnóstico , Masculino , Deficiencia de Glucosafosfato Deshidrogenasa/complicaciones , Deficiencia de Glucosafosfato Deshidrogenasa/genética , Deficiencia de Glucosafosfato Deshidrogenasa/diagnóstico , Lactante , Médula Ósea/patologíaRESUMEN
Lymphomatoid papulosis (LYP) is a chronic CD 30 + lymphoproliferative disorder (LPD) which is characterized by chronic, recurrent, and self-healing papulonecrotic or papulonodular skin eruptions, which are clinically benign and histopathologically malignant. It can resolve spontaneously; however, long-term follow-up is essential as it can progress to malignant lymphoma in 10-20% of the patients. We hereby report a case of a 42-year-old male presenting with recurrent papulonecrotic lesions over the face, trunk, and extremities from the last 3 years which heal with post-inflammatory hyperpigmentation and atrophic scars with a history of treated pulmonary tuberculosis one year back. There was no systemic involvement. LYP, involving cosmetically sensitive area like face, is an infrequent finding.
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Monocarboxylate transporters (MCTs) play an immense role in metabolically active solid tumors by regulating concentration-dependent transport of different important monocarboxylates including pyruvate and lactate and are encoded by the SLC16A family of genes. Given the vast array of functions, these transporters play in oncogenesis, our objective was to look into the association of MCT1 (SLC16A1), MCT2 (SLC16A7), MCT3 (SLC16A8), and MCT4 (SLC16A3) with Epithelial ovarian cancer (EOC) pathophysiology by exploiting various publicly available databases and web resources. Few of the in silico findings were confirmed via in vitro experiments in EOC cell lines, SKOV3 and OAW-42. MCT1 and MCT4 were found to be upregulated at the mRNA level in OC tissues compared to normal. However, only higher level of MCT4 mRNA was found to be associated with poor patient survival. MCT4 was positively correlated with gene families responsible for invasion, migration, and immune modification, proving it to be one of the most important MCTs for therapeutic intervention. We compared the effects of MCT1/2 blocker SR13800 and a broad-spectrum MCT blocker α-Cyano Hydroxy Cinnamic Acid (α-CHCA) and discovered that α-CHCA has a greater effect on diminishing the invasive behavior of the cancer cells than MCT1/2 blocker SR13800. From our study, MCT4 has emerged as a prospective marker for predicting poor patient outcomes and a potential therapeutic target.
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Proteínas de Transporte de Membrana , Neoplasias Ováricas , Femenino , Humanos , Proteínas Portadoras/genética , Proteínas Portadoras/metabolismo , Transportadores de Ácidos Monocarboxílicos/genética , Transportadores de Ácidos Monocarboxílicos/metabolismo , Neoplasias Ováricas/tratamiento farmacológico , Neoplasias Ováricas/genética , Estudios Prospectivos , ARN Mensajero/genética , ARN Mensajero/metabolismo , Piruvatos/química , Piruvatos/metabolismo , Lactatos/química , Lactatos/metabolismoRESUMEN
Multiple primary malignancies are defined as two or more malignancies arising independently to each other in the same or different anatomical sites, while excluding the possibility of metastasis from the primary malignancy. Here, we present three cases, each with dual malignancies involving different anatomical locations.
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Wilms' tumor (or nephroblastoma) is the most common renal malignancy in the pediatric population which consists of blastemal, epithelial, and stromal elements in variable proportions. The occurrence of renal cysts in children and infants is a rare phenomenon and is possibly an outcome of developmental aberrations in mesonephric blastema. The coincidental association of nephroblastoma with renal cysts is a very rare finding. Here, we describe two cases of Wilms' tumor with an unusual association between glomerulocystic kidney disease and multicystic dysplastic kidney.
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Carcinoma de Células Renales , Enfermedades Renales Quísticas , Neoplasias Renales , Tumor de Wilms , Lactante , Niño , Humanos , Tumor de Wilms/complicaciones , Tumor de Wilms/diagnóstico , Tumor de Wilms/patología , Riñón/patología , Neoplasias Renales/complicaciones , Neoplasias Renales/diagnóstico , Neoplasias Renales/patología , Enfermedades Renales Quísticas/complicaciones , Enfermedades Renales Quísticas/diagnósticoRESUMEN
Pancreatic neuroendocrine tumors are typically solid neoplasms but in rare instances may present as cystic lesions. Preoperative diagnosis of a cystic pancreatic lesion is challenging and requires a multidisciplinary and multimodal approach. We hereby describe an elderly female who came with complaints of abdominal lump. Radiologically, it appeared to be a pancreatic hydatid cyst located at the head of the pancreas, following which resection was done. Histopathological study of the lesion turned out to be a cystic pancreatic neuroendocrine tumor. Thus, we present this unique case due to its rarity and diagnostic challenge.
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Quiste Dermoide , Neoplasias , Neoplasias Ováricas , Teratoma , Niño , Humanos , Femenino , Estómago/patología , Teratoma/diagnóstico , Teratoma/cirugía , Teratoma/patología , Neoplasias Ováricas/patologíaRESUMEN
Background: Fetus-in-fetu (FIF) features a monozygotic, diamniotic, parasitic twin enclosed within its host twin. Case report: An 11-month baby girl presented with an antenatal diagnosis of a retroperitoneal mass. Radiological findings suggested it to be a teratoma. The mass was excised in-toto, histological findings were consistent with fetus-in-fetu. Conclusions: FIF may not have identifiable vertebral bodies and limbs upon imaging. Organized organ systems help differentiate this from a teratoma.
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Teratoma , Gemelos Monocigóticos , Humanos , Femenino , Embarazo , Feto/patología , Diagnóstico Prenatal , Teratoma/diagnóstico , Teratoma/patologíaRESUMEN
ABSTRACT: Primary fallopian tube carcinoma is an extremely rare tumor accounting for only 0.14-1.8% of genital tract cancers. A 47-year-old female presented with post-menopausal bleeding and heaviness in the lower abdomen. Imaging revealed the right adnexal mass, suggestive of neoplastic origin. She was prepared for surgery. Per-operatively, there was a solid irregular mass, firm to hard in consistency, around 8 × 5 cm involving the whole of the right fallopian tube, and the right ovary appeared normal. Histopathological examination of the specimen showed endometroid adenocarcinoma of the right fallopian tube. Endometroid carcinoma is important to recognize because it carries the best prognosis of all the fallopian tube cancers. The patient underwent surgery, followed by adjuvant chemotherapy, and was doing well in follow-up.
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Adenocarcinoma , Carcinoma , Neoplasias de las Trompas Uterinas , Femenino , Humanos , Persona de Mediana Edad , Trompas Uterinas/patología , Neoplasias de las Trompas Uterinas/diagnóstico , Neoplasias de las Trompas Uterinas/tratamiento farmacológico , Carcinoma/patología , Adenocarcinoma/diagnóstico , Adenocarcinoma/terapia , Adenocarcinoma/patología , Ovario/patologíaRESUMEN
Acantholytic squamous cell carcinoma is an infrequent subtype of squamous cell carcinoma. This tumour variant being rare in itself has been rarely described at the penile location, thus leading to a limitation on information of pathological and immunohistochemical findings and prognosis. Clinical observations indicate an aggressive biologic behaviour. The cytological features on fine-needle aspiration cytology samples have rarely been described in literature. It is imperative for pathologists to be aware of the cytological features so as to allow the distinction of this variant from conventional squamous carcinoma. Here, we explore an intriguing case of a metastatic tumour to inguinal lymph node with the primary lesion at the penis which constituted a diagnostic challenge on cytological examination.
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The incidence of abdominal cysts in infants is 1 in 500 to 1 in 1,000 live births. Among the ovarian cysts in infants, serous cystadenoma is extremely rare with only few reported cases in the literature. Here, we report a case of a giant neonatal ovarian serous cystadenoma treated with laparoscopic cystectomy and confirmed by histopathological examination. A 27-year-old delivered a female baby with uneventful caesarean section at full term. The antenatal ultrasonography (USG) in third trimester had showed an abdominal cyst in the left side of the abdomen. Postnatal USG was suggestive of omental cyst. A contrast-enhanced computed tomography scan of the neonate showed a large cyst occupying the entire abdomen. On laparoscopic evaluation, a cystic mass filled with 500 mL of clear yellow fluid was seen in the left pelvic fossa. Left ovary could not be visualized separately. The right ovary, fallopian tubes, and uterus were normal. The entire cyst was removed and sent for histopathological examination. On gross examination, a unilocular cyst measuring 10×8×6.5 cm with a wall thickness of 0.2 cm was noted. On microscopic examination, the histomorphological features were consistent with serous cystadenoma of the ovary. There is a paucity of literature regarding pathological diagnosis of such cases and hence we report one such case.
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D-penicillamine interferes with elastin and collagen metabolism and produces several cutaneous and multi-systemic side-effects. We present two cases of Wilson's disease who on long-term penicillamine therapy developed drug-induced degenerative dermopathy manifesting as skin fragility over pressure sites and cutis laxa-like changes.
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Metastatic renal cell carcinoma (RCC) in the nose and paranasal sinuses is very rare. We report an unusual case of metastatic RCC that presented as recurrent epistaxis ten years after curative nephrectomy. The purpose of this report is to draw the attention of clinicians to the possibility of metastatic RCC in patients with recurrent epistaxis and nasal mass. We also discuss treatment options and review the relevant literature.
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Carcinoma de Células Renales/diagnóstico , Epistaxis/diagnóstico , Enfermedades Renales/diagnóstico , Neoplasias Nasales/diagnóstico , Adulto , Carcinoma de Células Renales/secundario , Carcinoma de Células Renales/terapia , Quimioradioterapia , Diagnóstico Diferencial , Epistaxis/terapia , Humanos , Indoles/uso terapéutico , Enfermedades Renales/terapia , Masculino , Metástasis de la Neoplasia , Nariz/patología , Neoplasias Nasales/secundario , Neoplasias Nasales/terapia , Tomografía de Emisión de Positrones , Pirroles/uso terapéutico , Recurrencia , Sunitinib , Tomografía Computarizada por Rayos XRESUMEN
OBJECTIVES: Flexible bronchoscopy with exfoliative cytology is an important tool for the diagnosis of pulmonary fungal infections. The question of colonization versus true fungal infection is of critical importance. STUDY DESIGN: A 5-year retrospective analysis of all cases of pulmonary fungal infection diagnosed using exfoliative cytology was performed. Clinical, radiological, bronchoscopy and histopathology findings were recorded. RESULTS: A total of 69 cases of mycoses were retrieved. The most common fungal organism identified was Aspergillus followed by Candida and Pneumocystis. Most cases of Aspergillus and Candida in cytological specimens presented as a pulmonary mass or endobronchial growth and were diagnosed as carcinomas in biopsy specimens, thus representing colonization. All cases of Pneumocystis with bilateral ground glass infiltrates and cryptococcosis with parenchymal mass lesion in radiology represented true infection. Histoplasma was identified in pleural fluid from a known case of lung carcinoma. CONCLUSION: Aspergillus and Candida species are the most common fungal organisms. Most of these represent colonization of malignant growths. However, true fungal infections may also present as mass lesions and may masquerade malignancy clinically. Fluid cytological examination is an important diagnostic modality for pulmonary mycoses; however, it is important to correlate results with clinical, bronchoscopy and biopsy findings for accurate diagnosis and appropriate management.
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Citodiagnóstico/métodos , Enfermedades Pulmonares Fúngicas/diagnóstico , Enfermedades Pulmonares Fúngicas/microbiología , Adolescente , Adulto , Anciano , Broncoscopía , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Persona de Mediana Edad , Prueba de Papanicolaou , Estudios Retrospectivos , Adulto JovenRESUMEN
Bowen's disease commonly presents as a solitary asymptomatic plaque involving head and neck region or lower limbs. We present a case of a sixty seven-year-old man with an itchy, oozy, crusted solitary plaque on the right ring finger of eighteen months duration with histopathology consistent with Bowen's disease. The lesion was initially treated with topical 5% imiquimod but due to relapse and inadequate response to a second course, complete surgical excision followed by full thickness skin grafting was done. Recurrence after about 6 months in the form of a small papule adjacent to the initial site was also treated with excision. This report highlights the potential of Bowen's disease to mimic more common dermatoses and a high index of suspicion, supported by histopathology, is required to diagnose and treat it without delay, which in turn may require a multimodality approach. We also reviewed the current literature on the same.
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Enfermedad de Bowen/diagnóstico , Dedos/patología , Neoplasias Cutáneas/diagnóstico , Anciano , Aminoquinolinas/administración & dosificación , Enfermedad de Bowen/tratamiento farmacológico , Humanos , Imiquimod , Masculino , Neoplasias Cutáneas/tratamiento farmacológico , Resultado del TratamientoRESUMEN
Acute rejection in renal transplant recipients is diagnosed by renal biopsy at an advanced disease stage. There is no modality for sequential monitoring of graft status. We studied the role of urine cytology in predicting acute cellular rejection (ACR) and its ability to correctly diagnose ACR and differentiate it from drug toxicity (DT). Urine samples from 203 renal transplant recipients were studied to determine the cellular composition using cytology and immunocytochemistry for HLA-DR, intercellular adhesion molecule (ICAM)-1, and interleukin (IL)-2R. In a 3-month follow-up period, there were 36 episodes of graft dysfunction, of which 28 occurred due to ACR and 8 due to DT. The cytology results showed a significantly increased percentage of lymphocytes and polymorphonuclear cells in samples obtained before and during the clinical manifestations of ACR. A greater level of expression of antigens was observed before and during ACR. The use of IL2-R-, ICAM-1-, and HLA class II-specific monoclonal antibodies gave very high specificity, sensitivity, and positive predictive values in diagnosing rejection through urine cytology, suggesting that routine cytology along with immunocytochemistry of urine sediment has clinical potential for early diagnosis and management of ACR and DT.