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Background: Non-Hodgkin lymphoma (NHL) of the breast is a rare disease and can occur amongst patients affected by Waldenström's Macroglobulinemia (WM). WM is an indolent B-cell lymphoproliferative disorder with an overall incidence of about 1/100,000 in Europe. Breast imaging is not specific to breast lymphoma that often mimics benign lesions. The diagnosis is based on breast biopsy, the presence of MYD88L265P somatic mutation and immunoglobulin M (IgM) paraprotein detectable in the setting of lymphoplasmacytic infiltration by bone marrow (BM) biopsy. Case Description: A 60-year-old woman with personal and familial history of monoclonal gammopathy of undetermined significance (MGUS) and a lump in her right breast was referred to our hospital. Standard imaging showed round mass with smooth edges. The lump was biopsied and the pathology examination showed lymphoplasmacytic lymphoma (LPL) of the breast which led to final the diagnosis of WM. Conclusions: Lymphoma of the breast is a rare disease, often misdiagnosed because of the lack of specific features at mammogram and ultrasound. Core biopsy is crucial to make diagnosis of breast lymphoma and early diagnosis of WM has been shown to improve overall survival (OS). A comprehensive approach is required in order to assess patients affected by blood disorders presenting with a new breast mass that can lead to diagnosis of breast lymphoma.
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BACKGROUND: Gene expression profiling has divided diffuse large B-cell lymphoma (DLBCL) into 2 main subgroups: germinal center B (GCB) and non-GCB type. This classification is reproducible by immunohistochemistry using specific antibodies such as CD10, B-cell lymphoma 6 (BCL6), and multiple myeloma oncogene 1 (MUM1). Fine-needle aspiration (FNA) plays an important role in the diagnosis of non-Hodgkin lymphoma, and in some cases FNA may be the only available pathological specimen. The objectives of the current study were to evaluate CD10, BCL6, and MUM1 immunostaining on FNA samples by testing the CD10, BCL6, and MUM1 algorithm on both FNA cell blocks (CB) and conventional smears (CS), evaluating differences in CB and CS immunocytochemical (ICC) performance, and comparing results with histological data. METHODS: Thirty-eight consecutive DLBCL cases diagnosed by FNA were studied. Additional passes were used to prepare CB in 22 cases and CS in 16 cases; the corresponding sections and smears were immunostained using CD10, BCL6, and MUM1 in all cases. The data obtained were compared with histological immunostaining in 24 cases. RESULTS: ICC was successful in 33 cases (18 CB and 15 CS) and not evaluable in 5 cases (4 CB and 1 CS). The CD10-BCL6-MUM1 algorithm subclassified DLBCL as GCB (9 cases) and non-GCB (24 cases). ICC data were confirmed on histologic staining in 24 cases. CONCLUSIONS: CD10, BCL6, and MUM1 ICC staining can be performed on FNA samples. The results herein prove it is reliable both on CB and CS, and is equally effective and comparable to immunohistochemistry data.
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Proteínas de Unión al ADN/genética , Regulación Neoplásica de la Expresión Génica , Factores Reguladores del Interferón/genética , Linfoma de Células B Grandes Difuso/genética , Neprilisina/genética , Adulto , Anciano , Anciano de 80 o más Años , Biopsia con Aguja Fina , Estudios de Cohortes , Femenino , Perfilación de la Expresión Génica , Humanos , Inmunohistoquímica , Modelos Lineales , Linfoma de Células B Grandes Difuso/patología , Masculino , Persona de Mediana Edad , Pronóstico , Estudios Prospectivos , Proteínas Proto-Oncogénicas c-bcl-6RESUMEN
INTRODUCTION: Splenoma or splenic hamartoma is a rare primary splenic tumor most often discovered radiologically and incidentally. Splenic hamartomas have a strong association with solid and hematological malignancies and, in rare cases, with tuberous sclerosis, but to the best of our knowledge no reports of splenic hamartomas associated with familial adenomatous polyposis have been documented, although it is recognized that familial adenomatous polyposis presents a variety of extracolonic manifestations. CASE PRESENTATION: We report on a very rare case of multiple splenic hamartomas in a 46-year-old white woman who had previously undergone surgery for restorative proctocolectomy for familial adenomatous polyposis. A computed tomography scan of her spleen revealed multiple small lesions which measured less than 1cm in diameter. A splenectomy was performed and a histologic examination of the splenectomy specimen revealed the presence of multiple hamartomas. CONCLUSION: Incidence, differential diagnosis, diagnostic procedures, pathologic findings and treatment of splenic hamartomas are discussed here and hamartomas are considered in a differential diagnosis of splenic tumors. A splenectomy is indicated in cases where malignancy cannot be excluded and in cases of associated hematologic disorders. To the best of our knowledge our patient is the first reported case to have splenic hamartomas identified in a familial adenomatous polyposis-affected patient with mutation in exon 15 of the APC gene. At this time it is not possible to correlate with certainty our multiple splenic hamartomas and familial adenomatous polyposis case as a clinical manifestation of the mutation of APC gene; however, we believe that this case report could be important for further observation of similar cases in the future.
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Poliposis Adenomatosa del Colon/complicaciones , Poliposis Adenomatosa del Colon/diagnóstico por imagen , Hamartoma/complicaciones , Hamartoma/diagnóstico por imagen , Enfermedades del Bazo/complicaciones , Enfermedades del Bazo/diagnóstico por imagen , Poliposis Adenomatosa del Colon/cirugía , Diagnóstico Diferencial , Femenino , Hamartoma/cirugía , Humanos , Persona de Mediana Edad , Bazo/diagnóstico por imagen , Bazo/cirugía , Esplenectomía , Enfermedades del Bazo/cirugía , Tomografía Computarizada por Rayos XRESUMEN
Myelolipomas are uncommon benign tumors composed of mature adipose tissue mixed with hematopoietic elements; these tumors can occur in both the adrenal glands and extra-adrenal locations, the presacral region being the most frequent extra-adrenal site. We present a case of presacral myelolipoma diagnosed by fine needle aspiration (FNA) and core needle biopsy (CNB) in a 55-year-old woman with concurrent invasive ductal breast cancer. TC and RM imaging were consistent with the diagnosis of presacral myelolipoma. The lesion was discovered incidentally during the staging procedure for breast malignancy. The purpose of our work is to describe the FNA and CNB finding in combination with the imaging features of this uncommon lesion.
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Neoplasias de la Mama/patología , Mielolipoma/diagnóstico , Sacro/patología , Neoplasias de la Columna Vertebral/diagnóstico , Biopsia con Aguja Fina , Biopsia con Aguja Gruesa , Neoplasias de la Mama/complicaciones , Femenino , Humanos , Imagen por Resonancia Magnética , Persona de Mediana Edad , Mielolipoma/complicaciones , Mielolipoma/diagnóstico por imagen , Mielolipoma/patología , Radiografía , Sacro/diagnóstico por imagen , Neoplasias de la Columna Vertebral/complicaciones , Neoplasias de la Columna Vertebral/diagnóstico por imagen , Neoplasias de la Columna Vertebral/patologíaRESUMEN
Osteoclast-like giant cells (OGCs) may occur in several types of breast carcinomas (BS). Neuroendocrine differentiation may be present in BS but, associated with OGCs, neuroendocrine differentiation has been rarely reported. A case of invasive ductal carcinoma with OGCs and neuroendocrine differentiation diagnosed by fine needle cytology (FNC) is described. A 72-year-old woman with a nodular lesion of the right breast underwent to fine-needle cytology (FNC) The smears showed a dissociated cell population of monomorphous, mononucleated atypical cells with interspersed multinucleated giant cells osteoclast-like. The mononuclear cell component showed plasmacytoid features and frequent vacuoles of secretion. Immunostaining (IHC) performed on cell block sections showed oestrogen receptor positivity in the mononucleated cells and OGCs positivity for LCA and CD68. Histologically the tumour showed cell nests or cords separated by thin fibrovascular septa. The neoplastic cells were monomorphic, with round-oval nuclei, granular chromatin and evident nucleoli. The cytoplasm was indistinct and eosinophilic, finely granular, often containing eosinophilic globules that were positive at the PAS and mucicarmine stainings. Numerous non-neoplastic OGCs were also detected in the interstitial septa. The ICH showed positivity of the tumoral cells for E-Cadherin, oestrogen and progesterone receptors and c-ErbB2 negativity. Mitotic index was inconspicuous with a low Ki67 positivity rate (<10%). OCGs were CD68 and LCA positive. IHC also showed strong positivity for the chromogranin and synaptophysin. A diagnosis of invasive ductal BC with OGCs and neuroendocrine differentiation was performed. The expression of chromogranin and synaptophysin was then retrospectively assessed on CB sections too. The identification of OGCs component on breast FNA samples is not difficult, depending on a good sampling only. On contrary, the neuroendocrine differentiation still represents still a challenge in breast FNC.
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Neoplasias de la Mama/patología , Carcinoma Ductal de Mama/patología , Carcinoma Neuroendocrino/patología , Células Gigantes/patología , Osteoclastos/patología , Anciano , Antígenos CD/metabolismo , Antígenos de Diferenciación Mielomonocítica/metabolismo , Biopsia con Aguja Fina , Neoplasias de la Mama/metabolismo , Carcinoma Ductal de Mama/metabolismo , Carcinoma Neuroendocrino/metabolismo , Diferenciación Celular , Femenino , Células Gigantes/metabolismo , Humanos , Osteoclastos/metabolismo , Estudios RetrospectivosRESUMEN
Diabetic mastopathy represents an uncommon tumor-like proliferation of fibrous tissue of the breast that usually occurs in patients who suffered from type 1 diabetes mellitus for a long time. We report an uncommon case of diabetic mastopathy presenting in a type 2 non-insulin dependent diabetes mellitus 61-year-old postmenopausal woman. Physical examination revealed a hard, low movable mass in the upper outer quadrant of the right breast. Mammography and ultrasonography showed typical features of breast cancer. Ultrasound-guided fine-needle aspiration cytology (US-FNAC) was performed showing inflammatory infiltrate, suggesting excisional biopsy. Histological findings demonstrated typical diabetic mastopathy with fibrosis, histiocytic and limphocytic infiltration without evidence of malignancy.
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Enfermedades de la Mama/diagnóstico , Neoplasias de la Mama/diagnóstico , Diabetes Mellitus Tipo 2/complicaciones , Diagnóstico Diferencial , Femenino , Humanos , Persona de Mediana EdadRESUMEN
Thymomas are tumors with an indolent behavior and long clinical course, usually confined to the anterior mediastinum. Local recurrence is frequent while distant metastases are extremely rare. We report an unusual case of a B2 thymoma with a single renal metastasis The challenge in this case was the frozen section intraoperative diagnosis because of the clinical suspicion of malignant lymphoma. This report also highlights the role of surgical removal of solitary metastases.
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Neoplasias Renales/secundario , Timoma/secundario , Neoplasias del Timo/patología , Adulto , Humanos , MasculinoRESUMEN
Beckwith-Wiedemann syndrome (BWS) is an overgrowth disorder with increased risk of embryonal tumors, such as Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma. We report on a patient with BWS that developed a giant fibroadenoma of the breast that was surgically removed. The tumor relapsed 8 months after the surgery and the patient underwent partial mastectomy. Although the patient presented several clinical features of BWS, a molecular diagnosis was not achieved despite extensive molecular investigations on both blood and tumor tissue. A SNP array revealed a de novo 7p22.1 loss in both blood and breast tumor involving the mismatch repair gene PMS2 gene that may be potentially associated with the breast tumor. In conclusion, it remains unclear whether BWS patients have an increased risk of breast lesions or a yet unknown molecular defect is responsible for the rare occurrence of this tumor in BWS.
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Síndrome de Beckwith-Wiedemann/complicaciones , Neoplasias de la Mama/complicaciones , Adolescente , Síndrome de Beckwith-Wiedemann/diagnóstico , Neoplasias de la Mama/diagnóstico , Neoplasias de la Mama/cirugía , Aberraciones Cromosómicas , Hibridación Genómica Comparativa , Metilación de ADN , Femenino , Fibrosis , Humanos , HiperplasiaRESUMEN
Epstein-Barr virus (EBV) is a double-stranded DNA virus of the herpes family; it is one of the most common human viruses and it is associated with a wide spectrum of benign and malignant conditions. EBV is related to the development of several neoplasms, globally 1% of tumours, including lymphoproliferative, epithelial and mesenchymal neoplasm. Lymphoproliferative disorders include Hodgkin lymphoma (HL) and B and T cell non-Hodgkin lymphomas. HL is one of the most common lymphoma in the developed world, affecting both young people and adults. HL pathogenesis is complex and includes various and partially unknown mechanisms. EBV has been detected in some HL neoplastic cells and expresses genes with a potential oncogenic function, therefore many studies suggest that viral infections have a causative role in neoplastic transformation. Fine Needle Cytology (FNC) is extensively used in the first diagnosis of any lymph-nodal enlargement, including reactive lymphadenopathies and lymphoproliferative processes; therefore cytopathologists are likely to encounter EBV-associated malignancies in cytology samples, mainly HL, which is one of the most common lymphoma. This study focuses on the cytological features and ancillary studies required to diagnose EBV-related HL.
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Enfermedad de Hodgkin , Agujas , ADN Viral , Infecciones por Virus de Epstein-Barr , Herpesvirus Humano 4 , Humanos , Ganglios LinfáticosRESUMEN
BACKGROUND: A case of ectopic cervical thymoma (ECT) in which fine needle cytology (FNC) and flow cytometry (FC) have orientated the cytologic diagnosis, is described. CASE: A 57-year-old woman underwent FNC of a right latero-cervical nodule. The smear showed a dispersed lymphoid-cell population; therefore, a second FNC was used for FC and to prepare a cell block. Smears were highly cellular. Cells were medium or large sized, with scanty cytoplasm and nuclei with dispersed chromatin; large cells showed evident nucleoli. Immunohistochemistry on additional smears were positive for CD45RO and Ki67 in most of the cells, and negative for CK pan, CD20, thyreoglobulin and calcitonin. FC showed the following phenotype: CD2/CD3/CD7 = 67%, CD10 = 61%, CD4/CD8 = 62%. CD19 and light chains were not expressed. A diagnosis of T-cell lymphoid proliferation was made and ECT was suggested; histological diagnosis was cervical ectopic benign type B1 thymoma. CONCLUSION: FC may support the FNC diagnosis of ECT because of the specific phenotype of lymphoid cells showing the profile of "polyclonal" (CD2/CD3/CD7+) and thymic T-cells (CD10+, CD4/CD6+). FNC and FC may suggest the diagnosis of ECT even in the absence of detectable epithelial cells.
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Vértebras Cervicales/patología , Coristoma/patología , Citometría de Flujo/métodos , Timoma/patología , Neoplasias del Timo/patología , Biopsia con Aguja Fina , Células Epiteliales/patología , Femenino , Humanos , Inmunohistoquímica , Queratina-19/metabolismo , Persona de Mediana Edad , Timoma/cirugía , Timo/patología , Neoplasias del Timo/cirugíaRESUMEN
BACKGROUND: Renal ischaemia-reperfusion injury (IRI) acutely decreases glomerular filtration rate (GFR) and impairs kidney function in the long term. Pre-treatment with chaetomellic acid (KM), an inhibitor of membrane-bound Ha-Ras, has demonstrated beneficial effects on acute renal ischaemia. METHODS: We tested whether mycophenolate mofetil (MMF, 20 mg/day for 4 days before IRI), an immunosuppressor with anti-inflammatory properties, improved renal outcome in uninephrectomized rats after IRI (45 min of renal ischaemia), alone or in combination with KM. RESULTS: One day after ischaemia, GFR was markedly depressed in untreated rats (-75% vs. normal rats, P < 0.001), and pre-treatment with MMF did not modify this fall (-75%, P < 0.001 vs. normal). KM (0.23 microg/kg before IRI) greatly prevented GFR loss (-39% vs. normal, P < 0.05), but its action was not further improved by the combined administration with MMF (GFR, -45% vs. normal, P < 0.05). MMF significantly reduced ICAM-1 expression and monocyte recruitment (P < 0.05 vs. untreated rats); nevertheless, renal histology of MMF rats was similar to that of untreated rats. Additional rats were examined 6 months after IRI: untreated rats with IRI showed reduced renal function (-42% vs. normal, P < 0.01) and proteinuria (P < 0.001 vs. normal); rats pre-treated with MMF showed a similar pattern, whereas rats treated with KM before IRI presented a better GFR (-20% vs. normal, not significant) and near-normal values of proteinuria. The combination of KM + MMF gained the same results. CONCLUSIONS: Pre-treatment with MMF before IRI does not confer functional or morphological protection to the kidney, despite the reduced expression of some inflammatory markers. The combination of MMF + KM does not offer additional advantages to solitary KM treatment.