Cases reported "Neoplasms, Second Primary"

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1/850. trisomy 9 in a patient with secondary acute myelogenous leukemia detected by fluorescent in situ hybridization.

    Fluorescent in situ hybridization (FISH) is a molecular cytogenetic technique that is playing an increasingly important role for augmenting the findings of conventional cytogenetics. Here we present the case history of a patient with the clinical diagnosis of secondary acute myelogenous leukemia whose bone marrow cells were found to be hyperdiploid with an extra C group chromosome in a less than optimal preparation. By using FISH the extra chromosome was unequivocally determined to be a chromosome 9. The detection of trisomy 9 in this patient underscores the utility of FISH as an adjunct to GTG banding in the routine diagnosis and management of leukemic patients.
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2/850. Ki-1 large-cell anaplastic lymphoma after Ewing sarcoma.

    PURPOSE: A large cell anaplastic lymphoma that developed after treatment of a Ewing sarcoma (ES) is described. PATIENT: An 11-year-old girl with a pelvic ES developed a large cell, Ki-1 , anaplastic lymphoma in the same anatomic location 10 months after multimodal therapy. RESULTS: ES recurred in the primary site 16 months after allogeneic marrow transplantation and 3.5 years after initial diagnosis, but the patient remains in remission from her lymphoma. CONCLUSION: The occurrence of lymphoma and ES in a short time interval in the same patient is very unusual. Whether etiologic factors other than chemoradiotherapy, including genetic disposition, play a role remains to be elucidated.
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3/850. The effectiveness of chemotherapy with cisplatin and 5-fluorouracil for recurrent small cell neuroendocrine carcinoma of the rectum: report of a case.

    We report herein the case of a 46-year-old-man with small cell neuroendocrine carcinoma (NEC) concomitant with large villous adenoma of the rectum, who underwent abdominoperineal resection with regional lymphnode dissection. The resected specimen was histologically found to contain a small lesion of NEC confined to the submucosa in the large adenoma. A computed tomography scan done 4 months postoperatively revealed recurrences in the liver, lymph nodes, and bone. Therefore, two cycles of sequential intravenous combined chemotherapy with standard doses of cisplatin and 5-fluorouracil (5-FU) were administered, after which the size of each tumor decreased remarkably. Nevertheless, the patient died 8 months after the operation. As there was a fair response of this tumor to the combined chemotherapy of cisplatin and 5-FU, this regimen against NEC of the colon and rectum should be given consideration.
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4/850. Hodgkin's disease following extranodal marginal zone B-cell lymphoma in remission.

    A patient who developed Hodgkin's disease after an 11-year remission of marginal zone B-cell (MZB) lymphoma (low grade B-cell lymphoma of mucosa-associated lymphoid tissue type) is presented. Except for L26/CD20 expression by reed-sternberg cells, morphologic, immunophenotypic, and genotypic findings were compatible with the diagnosis of Hodgkin's disease. The relationship between Hodgkin's disease and the preceding MZB lymphoma in this patient is discussed.
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5/850. Multiple cutaneous granular cell tumors of the scrotum.

    A 55-year-old black man with two firm intradermal nodules of the scrotum is presented. On histopathologic examination, the nodules were determined to be cutaneous granular cell tumors. This was confirmed by strong immunohistochemical reactivity to S-100 protein. There are no previous reports of multiple granular cell tumors of the male genitalia. Only one report of a solitary granular cell tumor of the scrotum appears in the literature.
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6/850. 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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7/850. CD5 positive breast carcinoma in a patient with untreated chronic lymphocytic leukaemia: molecular studies of chromosome 13q.

    A 67 year old woman presented with a right breast lump which proved to be a grade 2 invasive ductal carcinoma with axillary lymph node metastasis. She had a five year history of CD5 positive chronic lymphocytic leukaemia, which never required treatment. Immunoperoxidase stains for CD5, using the monoclonal antibody NCL-CD-54C7, showed that there was extensive infiltration of axillary lymph nodes with CD5 positive B lymphocytes. Strong staining for CD5 was also seen in the carcinoma cells within the breast and lymph node metastases. It has recently been suggested that there is a tumour suppresser locus in chronic lymphocytic leukaemia at 13q12.3 near or at the BRCA2 locus. Deletion of regions on chromosome 13q containing the BRCA2 and RB1 genes has also been reported in sporadic breast cancers. These observations suggest that there may be a link between these two diseases acting through chromosome 13, but amplification of several microsatellite repeat markers failed to show any loss of heterozygosity or repeat instability at either these or several other loci on chromosome 13. Examination of additional such cases is needed to perform a more comprehensive study of the significance of positive CD5 staining of breast carcinoma.
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8/850. Histochemical investigation into the molecular mechanisms of malignant transformation in a benign glomus tumour.

    A glomangiosarcoma arose in a benign glomus tumour. The histological and immunohistochemical characteristics of the tumour were investigated. Apoptotic cells were identified by terminal deoxynucleotidyl transferase (TdT) mediated dUTP-biotin nick end labelling (TUNEL). The proportion of apoptotic cells was found to be low and TUNEL positive nuclei were present in the benign part of the tumour. Bcl-2 protein, an inhibitor of apoptosis, was strongly expressed in the glomangiosarcoma with only weak staining in the benign area. The proliferation index of the glomangiosarcoma was almost 10-fold higher than that of the benign glomus tumour. Numerous nuclei in the glomangiosarcoma were intensely stained for the tumour suppressor protein p53. The results of the this study may contribute to an understanding of the molecular basis of malignant transformation in benign glomus tumours.
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9/850. Intra-abdominal angiosarcomatosis after radiotherapy.

    BACKGROUND: We report a case of a 61-year-old Japanese woman who developed intra-abdominal angiosarcomatosis 20 years after receiving radiotherapy for squamous cell carcinoma of the cervix. methods AND RESULTS: The surgically resected portion of the ileum showed diffuse proliferating angiosarcoma, with irregular channels lined by atypical vascular endothelial cells. Immunohistochemical studies showed that the tumour cells were positive for factor viii-related antigen and ulex europaeus agglutinin 1. At autopsy, the tumour had disseminated to the peritoneum and invaded into the right thoracic cavity. CONCLUSIONS: These findings were compatible with radiation-induced angiosarcomatosis.
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10/850. 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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