Cases reported "Neoplasms, Second Primary"

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1/276. Untreated chronic lymphocytic leukemia concurrent with or followed by acute myelogenous leukemia or myelodysplastic syndrome. A report of five cases and review of the literature.

    Although it has been known that patients with chronic lymphocytic leukemia (CLL) have a higher frequency of second malignant neoplasms, the development of acute myelogenous leukemia (AML) or myelodysplastic syndrome (MDS) in these patients is extremely rare. Most reported cases have been therapy-related. In this article, we report the clinical and immunophenotypic features of 5 cases of untreated CLL concurrent with or followed by the development of AML or MDS. All 5 patients were men, with ages ranging from 57 to 87 years (mean, 73.8 years). Four patients had AML and 1 patient had refractory anemia with ringed sideroblasts. In the 4 cases of AML and CLL, 2 distinct cell populations (i.e., myeloblasts and lymphocytes) were identified morphologically and/or immunophenotypically. Our findings support that this rare concurrence of AML or MDS and untreated CLL may represent 2 separate disease processes.
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2/276. Molecular assessment of clonality leads to the identification of a new germ line TP53 mutation associated with malignant cystosarcoma phyllodes and soft tissue sarcoma.

    Cystosarcoma phyllodes (CSP) is a rare breast neoplasm composed of stromal and epithelial elements. It usually runs a benign course but it may metastasize. In a 31-year-old patient with recurring CSP, a mesenchymal tumor in the leg developed. The question arose whether the latter tumor could be a metastasis from the CSP, which would have major treatment consequences. The problem was addressed using molecular methods, i.e., comparison of the pattern of polymorphic repeat markers on chromosome 17p as well as single strand conformation polymorphism analysis and sequencing of exons 5 to 8 of the TP53 gene in both tumor and normal tissue. An identical pattern of loss of heterozygosity in both breast tumors was demonstrated, but a different pattern was shown in the tumor in the leg. This led to the conclusion that the latter tumor had to be a new primary tumor. A mutation in codon 162 of the TP53 gene was found in the tumor tissue as well as in the normal tissue of this patient. This germ line mutation leads to the replacement of isoleucine by asparagine and most likely has functional consequences. In all four examined tumors of this patient, the normal TP53 allele was lost. This is strong evidence that this germ line TP53 mutation causes the genesis of these two rare primary mesenchymal tumors in this young patient. The current study exemplifies the power of molecular diagnostic methods in investigating the specific clinical problem of clonal relation between two separate tumors. The germ line mutation found in codon 162 of the TP53 gene and the association with cystosarcoma phyllodes have not been described previously.
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keywords = neoplasm
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3/276. Giant fibrovascular polyp of the esophagus.

    Giant fibrovascular polyps (FVP) are the most common intraluminal tumors of the esophagus. The case of a second, nonrecurrent FVP is presented. A thorough review of the literature was conducted to provide an informative discussion on this benign but potentially life-threatening neoplasm.
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4/276. The inv(11)(p15q22) chromosome translocation of therapy-related myelodysplasia with NUP98-DDX10 and DDX10-NUP98 fusion transcripts.

    Chromosomal abnormalities involving the 11p15 or 11q22-23 bands have been reported in several types of human neoplasms including hematopoietic malignancies. The abnormalities are observed in therapy-related malignancies and less frequently in de novo myeloid malignancies. Abnormality of the MLL gene located on chromosome 11q23 has been well known in therapy-related myeloid malignancies, but it has been reported only recently that the inv(11)(p15q22) in de novo or therapy-related myeloid malignancies results in the fusion of NUP98 on chromosome 11p15 and DDX10 on chromosome 11q22. NUP98 is a nucleoporin that composes the nuclear pore complex and is the target gene in leukemia with the t(7;11)(p15;p15). The DDX10 gene encodes a putative adenosine triphosphate-dependent DEAD box rna helicase. Here we present another patient with acute myelocytic leukemia (M4) transformed from chronic myelomonocytic leukemia with the inv(11) chromosome who had been treated with etoposide for a germ cell tumor. By reverse transcription polymerase chain reaction (RT-PCR) of the rna from the leukemic cells of the patient, DDX10-NUP98 and NUP98-DDX10 fusion transcripts were detected. Our case confirms that the inv(11) is a rare chromosomal translocation that is associated with therapy-related or de novo myeloid malignancy and involves NUP98 and DDX10 but not MLL. RT-PCR of the fusion transcripts might be applied to the detection of a small number of leukemic cells in the bone marrow or blood of patients in remission or in the cells harvested for autologous transplantation.
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5/276. Sternothoracotomy for combined coronary artery bypass grafting and left upper lobectomy in a patient with low-lying tracheostoma.

    A 64-year-old man had a low-lying tracheostoma and presented with unstable angina and a mass in the pulmonary left upper lobe. Simultaneous coronary revascularization and resection of the lung neoplasm were completed through a sternothoracotomy (clam-shell) incision. The advantages of this approach include excellent exposure to the mediastinum and the lung fields, and the option of using both internal thoracic arteries for bypass grafting.
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keywords = neoplasm
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6/276. Second lung adenocarcinoma after combination chemotherapy in two patients with primary non-Hodgkin's lymphoma.

    We report a rare complication of a secondary malignant solid tumor in two patients with non-Hodgkin's malignant lymphoma who developed lung adenocarcinoma after treatments with combination chemotherapies. The first was a case of primary malignant lymphoma of the cervical spinal cord which had been previously treated with radiation to the spinal lesion and combination chemotherapies and entered complete remission. The patient was further treated for relapse with autologous bone marrow transplantation preconditioned with high-dose chemotherapy. lung adenocarcinoma developed 5.5 years after the initial diagnosis. The second case of malignant lymphoma of lymph nodes did not respond to conventional combination chemotherapies and did not enter remission. lung adenocarcinoma developed 1 year after the initial diagnosis. The two patients died of lung carcinoma. The clinical profiles of these cases are presented and the causal relationship of primary malignant neoplasms to the second malignant neoplasms is discussed.
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keywords = neoplasm
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7/276. A rare chimeric TLS/FUS-CHOP transcript in a patient with multiple liposarcomas: a case report.

    Myxoid liposarcomas harbor a unique and specific t(12;16)(q13,p11) chromosomal translocation. The breakpoint has recently been identified, and involvement of the TLS/FUS gene on chromosome 16 and the CHOP gene on chromosome 12 was demonstrated. We report a case of a 45-year-old woman who developed multiple malignant lipomatous tumors of unknown origin and myxoid/round cell histology at different locations. To examine the diagnostic potential of this translocation and to develop a hypothesis on the origin of the tumors, we used cytogenetic and molecular cytogenetic methods (reverse transcription polymerase chain reaction, RT-PCR). We identified a chimeric rna transcript in the second recurrence in the thigh/groin, as well as in another tumor in the mediastinum, which has an additional sequence of 33 bp, known as fusion transcript type III. cytogenetic analysis of another tumor in retroperitoneal space revealed a rare type of unbalanced translocation der(16)t(12;16). We hypothesize that these tumors are metastases rather than multicentric tumors. The detection of the chimeric message in the present case is not only useful for differential diagnosis, but also for analyzing the origin of multiple neoplasms.
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keywords = neoplasm
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8/276. Cytological and immunocytochemical evaluation of thyroid and breast masses in patients with a previous neoplasm: case reports.

    The diagnosis of secondary tumours represents one of the most important fields in the application of fine needle aspiration cytology (FNAC). We studied two patients, one with a history of breast cancer and one with a previous tumour of the thyroid, who showed a second mass, in the thyroid and in the breast, respectively, during follow up. The aim of our study was to evaluate if cytology, performed on FNAC smears, may distinguish a metastatic lesion from a second primary tumour, or if further immunocytochemistry should be performed. Our data demonstrate that, while cytology may be indicative of a second primary tumour, the histotype should be confirmed by immunocytochemical staining.
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ranking = 4
keywords = neoplasm
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9/276. Oncocytoid renal cell carcinoma after neuroblastoma: a report of four cases of a distinct clinicopathologic entity.

    Four children who developed oncocytoid renal cell carcinoma (RCC) after neuroblastoma are reported. One patient had multiple, bilateral RCCs. The mean age at time of diagnosis of RCC was 8.8 years (range, 5-13 years). The mean interval between neuroblastoma and RCC was 7.15 years (range, 3.1-11.5 years). The histologic findings of these RCCs did not fit within the spectrum of known renal epithelial neoplasms. Most of the neoplastic cells in all cases had eosinophilic, oncocytoid cytoplasm and were arranged in solid and papillary growth patterns. A subset of cells with reticular cytoplasm was also present. Immunohistochemical studies demonstrated keratins 8 and 18 in all neoplasms and keratin 20 in two cases. dna ploidy analysis revealed that two of three neoplasms assessed were aneuploid. Cytogenetic studies revealed 45, XX, add or dup (7)(q32q36) in one neoplasm, and 83-89, XXXX, -1 ,-3, del (3)(q11.1q2?1), der(4)t(4;?22) (q32;q11.2), -14, -22 in a second tumor. Microsatellite polymerase chain reaction analysis detected no abnormalities in one neoplasm and allelic imbalance of chromosomes 2p31-32.2, 8p22, 9p22-24, 13q22, 20q13, and 22q11 in a second tumor. In case 4, two different RCCs excised 6 months apart were analyzed. The initial neoplasm showed allelic imbalance of chromosomes 2q31-32.2, 5q22, 5q31, 10p13-14, 13q22, 14q31, and 20q13. The subsequent neoplasm showed allelic imbalance of chromosomes 3p21.3, 14q31, and 20q13. The common presence of 14q31 and 20q13 abnormalities suggests that these two neoplasms were genetically related. In aggregate, these findings are distinctive, are not found in known types of RCC, and support the morphologic impression that oncocytoid RCC after neuroblastoma is a distinct clinicopathologic entity.
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ranking = 8
keywords = neoplasm
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10/276. Multifocal osteosarcoma following retinoblastoma.

    Three survivors of retinoblastoma, one with hereditary bilateral and two with nonhereditary (spontaneous) unilateral disease, developed multifocal osteosarcoma. For one patient, unilateral retinoblastoma was followed by primitive neuroepithelioma at age 13 years. Multifocal chondroblastic osteosarcoma represented the patient's third malignant neoplasm. The course of multifocal osteosarcoma in these three patients compares to that of multifocal osteosarcoma which presents de novo in other patients without prior retinoblastoma.
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ranking = 1
keywords = neoplasm
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