Cases reported "Neoplasms, Second Primary"

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11/19. microsatellite instability in a pleomorphic rhabdomyosarcoma in a patient with hereditary non-polyposis colorectal cancer.

    AIMS: To describe the rare occurrence of a pleomorphic sarcoma with microsatellite instability in a patient with hereditary non-polyposis colorectal cancer (HNPCC). methods AND RESULTS: A soft tissue tumour was removed from the upper leg of a patient who had previously been shown to harbour a germ-line MSH-2 mutation. The tumour was analysed with immunohistochemistry and molecular methods. The morphology and immunohistochemical findings were in keeping with a pleomorphic rhabdomyosarcoma. microsatellite instability was documented in the tumour with molecular methods and in addition loss of MSH-2 expression in the tumour cells was confirmed by immunohistochemistry. CONCLUSIONS: Although sarcomas do not form part of the HNPCC diagnostic criteria, they may occur in this mismatch repair syndrome and, moreover, may well be caused by the underlying genetic defect.
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ranking = 1
keywords = microsatellite instability, microsatellite, instability
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12/19. Molecular genetic analysis excludes implantation metastasis of basal cell carcinomas.

    Basal cell carcinoma (BCC) of the skin is the most common tumor in the white population. A 66-year-old man developed 2 BCCs at the left parietal region of the head and at the helix of the left ear. The 2 lesions matched exactly when pressing the ear against the head, suggesting an implantation metastasis mechanism. Molecular genetic techniques were used to confirm or exclude such a mechanism in this rare clinical constellation. Tumor tissues were precisely microdissected for dna isolation. exons 5-9 of the p53 tumor suppressor gene were directly sequenced. In addition, loss of heterozygosity analysis of chromosome 9q was performed using 5 polymorphic microsatellite markers. The BCC of the ear revealed a p53 mutation at codon 273, whereas the other one lacked this mutation. In addition, the smaller BCC of the ear showed loss of heterozygosity at 9q33.3, in contrast with the larger BCC. Interestingly, histologically normal skin of the ear distant from the small BCC had the same deletion, indicating a field defect of this skin patch at 9q33.3. Molecular genetic analysis clearly demonstrated different genetic alterations of the two BCCs and therefore most likely excludes a mechanism of implantation metastasis.
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ranking = 0.095369666563426
keywords = microsatellite
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13/19. Nephroblastoma arising in a germ cell tumor of testicular origin.

    We report a nephroblastoma arising in a germ cell tumor of testicular origin occurring in a 22-year-old man. orchiectomy demonstrated a malignant mixed germ cell tumor composed of mature and immature teratoma with nephroblastoma and rhabdomyosarcoma. Following chemotherapy, the patient developed supraclavicular and retroperitoneal lymphadenopathy. Excision demonstrated metastatic teratoma at both sites. No recurrence was noted with 21 months of additional follow-up. Using tissue microdissection and loss of heterozygosity analysis, we investigated the clonality of the mature teratoma, immature teratoma, nephroblastoma, and rhabdomyosarcoma components of the primary tumor and of the metastatic mature teratoma at the two separate distant sites. Nine microsatellite polymorphic makers were used to examine the pattern of allelic loss in both primary and metastatic tumors. loss of heterozygosity was found in 4 dna loci, and the same pattern of allelic loss was demonstrated at all 4 loci in all of the different components of the primary tumor and the metastatic mature teratomas, supporting the germ cell tumor origin of the nephroblastoma component. loss of heterozygosity on chromosome 17p13 (TP53) was detected in metastatic mature teratoma, but not in the primary tumor. loss of heterozygosity was observed at 11p13, the locus of WT1 inactivation in patients genetically predisposed to nephroblastoma, and this loss may be an important genetic mechanism in nephroblastomatous differentiation of germ cell tumors. These data support a common clonal origin for nephroblastoma and the other germ cell tumor components.
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ranking = 0.095369666563426
keywords = microsatellite
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14/19. Molecular analysis of paired tumours: time to start treating the field.

    Molecular analysis of paired tumours highlights the limitations of the current clinical criteria for identifying second primary tumours. At present the finding of identical novel microsatellite alleles in paired lesions provides a "gold standard" marker for establishing clonal origin. However, these aberrations occur at low frequency and other methods for determining clonality have been proposed. In the present study we have applied 3 molecular tests to establish whether it is possible to combine the results obtained with the different approaches to provide information about the likely origin of a second tumour when novel alleles are not found. Our findings provide substantive molecular evidence that a proportion of second tumours are recurrences of an index lesion and suggest that the finding of concordant allelic imbalance at two or more loci at two different chromosome arms together with concordant p53 mutations might provide a useful surrogate. We briefly review other published reports and emphasis the need to plan treatment to eliminate precursor lesions in the field rather than focusing on the visible primary lesion and the 1-2 cm of surrounding mucosa traditionally considered to be "at risk".
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ranking = 0.095369666563426
keywords = microsatellite
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15/19. U-2940, a human B-cell line derived from a diffuse large cell lymphoma sequential to Hodgkin lymphoma.

    Several patterns of association between Hodgkin and non-Hodgkin lymphomas are recognized, some of which support a common cellular origin or shared transformation events for both malignancies. We describe the U-2940 cell line derived from a diffuse large B-cell lymphoma with some features consistent with mediastinal large B-cell lymphoma, clinically apparent 1 month after the initial course of chemotherapy for Hodgkin's disease, fulfilling the criteria for composite malignancies. U-2940 cells display a mature B phenotype with hypermutated IgH rearrangement typical of germinal/postgerminal center origin. The cell line is negative for Epstein-Barr virus and no evidence of t(14;18) was found. U-2940 cells display multiple chromosomal rearrangements similar to recurrent aberrations described in both Hodgkin and non-Hodgkin lymphomas, also partially shared by U-2932 derived from a B-cell lymphoma sequential to Hodgkin's disease. The original large B-cell lymphoma and the U-2940 cell line bear microsatellite instability, an abnormality associated with particular subtypes of non-Hodgkin lymphomas and found in tissues involved by Hodgkin lymphoma. Therefore, U-2940 cells bear several features known to occur in Hodgkin and in non-Hodgkin lymphomas, leading to the assumption that this cell line may constitute a useful tool to address elective pathways of lymphomagenesis and eventually the Hodgkin and non-Hodgkin lymphoma association.
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ranking = 0.99105754447408
keywords = microsatellite instability, microsatellite, instability
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16/19. Spectrum of molecular alterations in colorectal, upper urinary tract, endocervical, and renal carcinomas arising in a patient with hereditary non-polyposis colorectal cancer.

    Hereditary nonpolyposis colon cancer (HNPCC) syndrome is the most frequent hereditary cancer syndrome predisposing to cancers of various locations, especially colon, endometrium, stomach, and upper urinary tract. Carcinomas of the kidney parenchyma are not considered as an HNPCC-related tumor. HNPCC tumors are characterized by microsatellite instability (MSI) due to a defect in mismatch repair (MMR) and carry somatic frameshift mutations in mononucleotide repeats within the coding regions of key genes. We report the first case of a papillary carcinoma of the kidney in an HNPCC patient who developed carcinomas of the upper urinary tract, endocervix, and colon. Whereas the HNPCC-related tumors demonstrated MSI phenotype, loss of MSH2 protein expression, and frameshift mutations in several of the 13 target genes analyzed, the kidney cancer displayed MSS phenotype, normal MMR protein expression, and no frameshift mutation in target genes. Our observations do not support the possibility that papillary carcinomas are part of HNPCC syndrome.
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ranking = 0.99105754447408
keywords = microsatellite instability, microsatellite, instability
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17/19. Localized, late-onset, high-grade lymphoma following bone marrow transplantation: response to combination chemotherapy.

    Non-Hodgkin's lymphoma is the commonest secondary cancer following bone marrow transplantation (BMT). We report the case of a 42-year-old man who developed a laryngeal high-grade B-cell lymphoma 5 years following a matched T depleted BMT for CML. polymerase chain reaction (PCR) analysis using the microsatellite marker Cyp 19 demonstrated the donor origin of involved tissue. Epstein-Barr virus (EBV) genomic sequences were identified by PCR. Although EBV related B-cell lymphoproliferative disorders (BLPD) post BMT are difficult to treat, there was a complete remission in this patient following three courses of chemotherapy (CHOP) administered with G-CSF. This case of late-onset BLPD appears clinically distinct from the well-defined, aggressive, early post-transplant BLPD.
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ranking = 0.095369666563426
keywords = microsatellite
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18/19. Upper limb reflex sympathetic dystrophy associated with occult malignancy.

    reflex sympathetic dystrophy, characterized by pain, swelling, vasomotor instability, and trophic changes in an extremity, has been infrequently described in patients with occult malignancy. Two cases of reflex sympathetic dystrophy associated with local tumor involvement are reported. Both patients had a history of cancer in clinical remission. Despite aggressive physical therapy measures, the patients' symptoms persisted. Workup of the first patient found an apical paravertebral mass in the lung; biopsy revealed recurrent breast carcinoma. In the second case, workup found an axillary mass contiguous with the lower brachial plexus. biopsy revealed lymphoma, a second primary malignancy. In both cases, medical treatment of the tumor was instituted, with consequent improvement of hand and shoulder function. Both patients required prolonged hospitalization and multiple procedures that might have been avoided if malignancy had been suspected. Spontaneous development of reflex sympathetic dystrophy in patients with a history of cancer should alert the physician to the possibility of occult malignancy.
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ranking = 0.0017884911051847
keywords = instability
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19/19. Unrelated mismatched cord blood transplantation in an adult with secondary AML.

    umbilical cord blood (CB) has been widely used for related and unrelated transplants in pediatric patients. We present the case of an adult with secondary AML who received an unrelated, one-antigen mismatched CB transplant due to the lack of a matched donor. The patient was a 26-year-old female (35 kg/bw) who had received an autologous bone marrow transplant for Hodgkin's disease in April 1994 and, 6 months later, developed secondary MDS (RAEB, 46, XX, -7, mar), which slowly evolved into acute myelogenous leukemia. In May 1995, she was transplanted with a 165 ml CB unit containing a total of 1.6 x 10(9) nucleated cells, 11 x 10(6) CD34 cells and 7.2 x 10(5) CFU-GM. GVHD prophylaxis consisted of standard CsA and methotrexate. Myeloid engraftment occurred on day 28 (PMN > 500) and full donor chimerism was confirmed twice (on days 33 and 56) by means of cytogenetics and dna microsatellite analysis. Erythroid and megakaryocytic engraftment was documented by immunohistochemical analysis of a bone marrow biopsy on day 40, showing the presence of erythroblastic islands and isolated CD61 immature cells. The patient did not develop GVHD but died on day 56 from idiopathic interstitial pneumonia and multiorgan failure. To our knowledge, this is one of the first case reports of unrelated mismatched CB transplantation in an adult.
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ranking = 0.095369666563426
keywords = microsatellite
(Clic here for more details about this article)
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