Cases reported "Mediastinal Neoplasms"

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1/14. Aggressive natural killer cell lymphoma presenting as an anterior mediastinal mass in a patient with acquired immunodeficiency syndrome.

    We report a case of aggressive natural killer cell lymphoma presenting as an anterior mediastinal mass in an African-American man with acquired immunodeficiency syndrome. Histologically, the anterior mediastinal mass showed a diffuse dense infiltrate of atypical intermediate-sized and large lymphoid cells, as well as scattered immunoblasts with angiocentric and angiodestructive growth and extensive zonal necrosis. Similar lymphoid infiltrates were present in the patient's lungs, spleen, and bone marrow, accompanied by extensive lymphophagocytosis. Electron microscopic and cytologic examinations showed the presence of dense cytoplasmic granules. immunophenotyping by flow cytometry and by immunohistochemistry yielded surface markers consistent with a natural killer cell lymphoma. The Epstein-Barr virus genome and monoclonality were detected by in situ hybridization and Southern blot analysis. polymerase chain reaction confirmed the presence of type A Epstein-Barr virus. T-cell receptor gene rearrangement could not be identified by Southern blot analysis or polymerase chain reaction. To the best of our knowledge, this is the first reported case of designated natural killer cell lymphoma from the mediastinum, as well as the first reported case of natural killer cell lymphoma in a patient with acquired immunodeficiency syndrome. This tumor disseminated early and pursued a highly aggressive course. Epstein-Barr virus may play a role in the pathogenesis of this disease.
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2/14. Blastic natural killer cell lymphoma arising from the mediastinum with terminal deoxynucleotidyl transferase expression.

    Blastic natural killer (NK) cell lymphoma/leukemia is a relatively rare NK cell malignancy. We report the second case of blastic NK cell lymphoma arising from the mediastinum with an aggressive clinical course. The patient was a 63-year-old Japanese man with an anterior mediastinum tumor. The biopsy specimen showed diffuse proliferation of tumor cells with frequent mitotic figures and apoptotic bodies. Both angiocentric features and small foci of coagulative necrosis were found in this section. The tumor cells had medium to large nuclei with a fine chromatin pattern, inconspicuous nucleoli and scanty cytoplasm. The nuclear contour was oval to moderately irregular, showing slight pleomorphism as compared with typical lymphoblastic lymphoma. The tumor cells were positive for CD2, CD56 and terminal deoxynucleotidyl transferase, but negative for other T-cell antigens, B-cell antigens and myeloid markers. in situ hybridization for Epstein-Barr virus encoded small ribonucleic acid 1 was negative.
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3/14. TIA-1 cytotoxic large T-cell lymphoma of the mediastinum: case report.

    A 52-year-old previously healthy Caucasian woman presented with superior vena cava syndrome, secondary to compression of a bulky anterior mediastinal mass involving the right lung. Fine-needle aspiration biopsy of the mediastinum yielded large epithelioid cells intermingled with small mature lymphocytes. The epithelioid cells are LCA positive, expressing cytoplasmic CD3 diffusely and TIA-1 focally, but negative for EMA, CD4, CD8, CD15, CD20, CD30, and CD56. The TIA-1 cytoplasmic granules correlated to the azurophilic granules in Diff-Quik-stained cells, pink granules in Ultrafast Papanicolaou-stained cells, and dense core granules in electron microscopy. in situ hybridization for Epstein-Barr viral rna was negative. The background small lymphocytes were composed of a majority of CD4 t-lymphocytes and minority of CD8 t-lymphocytes. The patient responded well to six cycles of CHOP chemotherapy, followed by radiation with a total dose of 4140 cGy delivered to the mediastinum in 23 fractions. On the chest X-ray taken 6 mo later, there was minimal apical fibrosis with no evidence of an acute intrathoracic pathology. To the best of our knowledge, this case may be the first report of cytotoxic large T-cell lymphoma of the mediastinum.
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4/14. T-cell blast crisis of chronic myelogenous leukemia manifesting as a large mediastinal tumor.

    We report an unusual case of T-cell blast crisis of chronic myelogenous leukemia (CML) with a clinical presentation more typical of de novo T-cell lymphoblastic lymphoma. The patient was a 32-year-old man who presented with acute superior vena cava syndrome 19 months after an initial diagnosis of CML and 5 months after allogeneic bone marrow transplantation. The tumor was composed of primitive lymphoid cells expressing CD2, CD3, CD4, CD5, CD7, CD8, and CD10. Although the clinical features were more typical of acute lymphoblastic leukemia/lymphoma, fluorescence in situ hybridization analysis showed the bcr-abl fusion gene within blastic tumor cells. This finding confirmed that the mass represented a blastic transformation of CML. We use the unusual features of the current case and the previous reports to suggest that the development of T-cell blast crisis of CML is dependent on the presence of both marrow and extramedullary disease and a mechanism to evade apoptosis.
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5/14. Inflammatory myofibroblastic tumor of the posterior mediastinum: an older adult case with anaplastic lymphoma kinase abnormalities determined using immunohistochemistry and fluorescence in situ hybridization.

    Inflammatory myofibroblastic tumor (IMT) is a rare neoplasm that usually occurs in children and young adults. Anaplastic lymphoma kinase (ALK) abnormalities in IMT, determined using immunohistochemistry and/or molecular genetic studies, including fluorescence in situ hybridization (FISH), have almost been limited to children and young adults. In elderly cases of IMT, these ALK abnormalities are very rare. We report on a case of IMT arising in the posterior mediastinum of a 59-year-old Japanese man that showed ALK abnormalities determined using immunohistochemistry and FISH, suggesting the neoplastic nature of a subset of IMTs in older patients similar to those in younger ones and the presence of an additional mechanism(s) that allows them to start to grow late.
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6/14. A 62-year-old man with chronic pyothorax.

    June 2005. Pyothorax-associated lymphoma (PAL) is a rare B-cell non-Hodgkin lymphoma (B-NHL) which develops in the pleural cavity after a 20- to 64-year history of chronic pyothorax. We present here the case of a 62-year-old man who suffered from chronic pyothorax after pneumectomy 44 years ago, and complained of progressive ataxia. A MRI of the head revealed a solitary lesion in the vermis cerebelli, and a biopsy showed a lymphoma displaying immunoblastic features. immunohistochemistry revealed an aberrant dual B/T phenotype and an Epstein-Barr virus (EBV) type III LMP-1 /EBNA-2 latency profile. In-situ hybridization disclosed EBV-encoded RNAs in the tumor cells. PCR for the detection of rearranged immunoglobulin heavy chain (IgH) genes followed by GeneScan analysis demonstrated a clonal B-cell population with dna amplificates of identical size in the brain manifestation, and a large mediastinal tumor analyzed post mortem. Among the largest series of 106 PALs collected through a nationwide survey in japan, central nervous system (CNS) involvement was detected in 5 (14%) of 36 patients where an autopsy had been performed. To best of our knowledge, this is the first case of a pyothorax-associated lymphoma initially diagnosed on brain biopsy.
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7/14. Extragonadal germ cell tumors are often associated with klinefelter syndrome.

    klinefelter syndrome is a well documented abnormality of sex differentiation, with an incidence of 1 in 600 newborn males. It is characterized by a 47,XXY or a mosaic karyotype and clinical findings of hypergonadotrophic hypogonadism, small testes, infertility, reduced body hair, gynecomastia, and tall stature. Other conditions like venous disease, autoimmune disorders, mild neurobehavioral deficit, diabetes mellitus, sexual precocity, and osteoporosis may also affect these patients. Different malignancies such as breast cancer, testicular tumors, leukemia, and lymphomas occur in 1%-2% of the cases. klinefelter syndrome has been associated with other malignancies such as extragonadal germ cell tumors; however, some authors consider this association an unusual finding. We report the molecular cytogenetic studies performed in 4 young males with mediastinal germ cell tumors. In 2 cases, a 47,XXY karyotype was recognized in different tissues by fluorescent in situ hybridization, whereas the other 2 had a normal XY karyotype. We propose that in young patients with mediastinal teratoma, a cytogenetic analysis must always be performed.
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8/14. Primary mediastinal (thymic) large B-cell lymphoma with a der(14)t(8;14)(q24;q32) and a translocation of MYC to the derivative chromosome 14 with a deleted IgH locus.

    We report a case of primary mediastinal (thymic) large B-cell lymphoma (PMBL) with an initial karyotype containing numerical chromosomal aberrations: X, 9, 12, 21, and a novel translocation t(2;11)(q?31; q23 approximately 24) with a duplication of the derivative chromosome 11. Subsequent multicolor fluorescence in situ hybridization (M-FISH) analysis revealed a der(14)t(8;14)(q24;q32). Further analysis using fluorescence in situ hybridization (FISH) with locus-specific probes revealed loss of the entire IgH locus from the der(14)t(8;14) and relocation of MYC to this derivative chromosome 14. Our data show definitively the existence of the t(8;14) in PMBL, previously only suspected. This finding supplies additional evidence that a translocation-mediated MYC activation may be an important event in the pathogenesis of this unique lymphoma.
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9/14. Thymic carcinoma. Report of five cases and review of the literature.

    Among 54 mediastinal tumours we examined in the past 20 years, there were 5 cases of primary thymic carcinomas, each with widespread metastases. Histological features in three cases were consistent with lymphoepithelioma-like carcinoma. One case showed an epidermoid pattern with keratotic pearls resembling Hassall bodies. One undifferentiated carcinoma developed from a cortical thymoma. Epstein-Barr virus could not be detected in tumour tissue with in situ hybridization. A review of the literature revealed only 94 well-documented cases of thymic carcinoma. Both thymic carcinomas and thymomas are neoplasms of the thymic epithelial cells, but thymic carcinomas are obviously histologically malignant and usually not associated with any parathymic syndromes. Epidermoid and lymphoepithelioma-like carcinomas are described along with special forms, such as small- and clear-cell carcinomas, basaloid, sarcomatoid, mucoepidermoid, and adenocystic carcinoma. Compared to the other forms, lymphoepithelioma-like carcinoma has a poor prognosis in regard to metastases and rate of survival. Some thymic carcinomas may develop from pre-existing thymomas.
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10/14. Acute myeloid leukaemia with i(12p) shortly after treatment of mediastinal germ cell tumour.

    We report a patient who developed acute myeloid leukaemia (M2) shortly after successful treatment of a mediastinal germ cell tumour. The leukaemia was preceded by a documented myelodysplastic phase. Complex cytogenetic abnormalities were found in bone marrow and peripheral blood cells including i(12p), typical of germ cell malignancy. fluorescence in situ hybridization revealed the presence of i(12p) in myeloblasts, erythroblasts and neutrophils but not in lymphocytes. This case provides further evidence for a common clonal origin of haematological malignancies and mediastinal germ cell tumours.
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