Central diabetes insipidus (CDI) is a clinical syndrome that result from a failure of the neurohypophyseal axis to produce or release a sufficient quantity of arginine vasopressin (AVP) to permit normal function of the urinary concentrating mechanism. Polyuria and polydipsia are the symptoms associated with CDI. The most common cause of CDI is idiopathic variety and head trauma, neurohypophyseal surgery, primary or metastatic brain tumors acount for most of the remaining cases. CDI in Langerhans cell histiocytosis (LCH) is thought to be to infiltration of the hypothalamus-neurohypophyseal system. We report a patient with CDI and LCH underwent water depriviation test, MR imaging of the pituitary-hypothalamic region, and VATS associated open lung biopsy.
Arginine Vasopressin ; Axis, Cervical Vertebra ; Biopsy ; Brain Neoplasms ; Craniocerebral Trauma ; Diabetes Insipidus* ; Diabetes Insipidus, Neurogenic ; Histiocytosis* ; Histiocytosis, Langerhans-Cell ; Humans ; Lung ; Magnetic Resonance Imaging ; Polydipsia ; Polyuria ; Thoracic Surgery, Video-Assisted

Transformation and progression of breast cancer are thought to be caused by an accumulation of complex genetic alterations, but little is known about specific changes. In this study, the author has undertaken a genome-wide screening to detect genetic changes in 20 cases of breast cancer among Koreans, including 16 infiltrating ductal carcinomas, 2 medullary carcinomas, 1 invasive lobular carcinoma, and 1 borderline phyllodes tumor. Comparative genomic hybridization (CGH) was used to screen for DNA sequence gains and losses across all human chromosomes. Simultaneous immunohistochemical staining for c-erbB-2 (Her-2/neu), c-myc, cyclin D1, and p53 protein was done to make comparisons with nuclear grade and that with CGH results. Biotin-labeled tumor DNA and digoxigenin-labeled normal DNA were hybridized to normal metaphase cells. The fluorescence signals were captured by fluorescence microscope after detection by avidin-FITC and anti-digoxigenin rhodamine. Then, the ratio of fluorescence was calculated by an image analyzer. The immunohistochemical staining was done in paraffin-embedded tissue with an LSAB kit and avidin-biotin complex (ABC) method. The CGH results showed gains on chromosomes 8q (40%), 1q (30%), 17q (15%), 20q (15%), 18q (15%), 5p (15%), and 13q (15%). Deletions were on chromosomes 17p (45%) and 22q (20%). High-level amplifications (green/red ratio >1.5) were noted on chromosomes 1p31, 1q, 3q25-qter, 5p, 7q31-qter, 8q, 9p22-qter, 10p, 11p, 11q22-qter, 12p, 12q24, 14q21-qter, 15q23-qter, 17q, 18p, 18q12-qter, 20p, and 20q. By comparison with infiltrating ductal carcinoma, the two medullary carcinomas showed high-level amplification on chromosomes 1p31, 1q, 8q, 10p, 11p and 12p. c-erbB-2, c-myc, cyclin D1, and p53 protein expression was immunohistochemically detected in 9 of 20 (45%), 8 of 20 (40%), 10 of 20 (50%), and 13 of 20 (65%), respectively. The results indicate that the amplification on chromosome 8q, 1q and the deletions on chromosomes 17p and 22q are the most frequent genetic alterations in breast cancers among Koreans. The results reveal a different pattern of genetic alteration from previous studies. The CGH results were not correlated with the immunohistochemical profiles. The amplification pattern of medullary carcinomas was quite different from the pattern of infiltrating ductal carcinomas. The CGH was thought to be very useful in the screening of genetic alterations of solid tumors.
Base Sequence ; Breast Neoplasms ; Breast* ; Carcinoma, Ductal ; Carcinoma, Lobular ; Carcinoma, Medullary ; Chromosomes, Human ; Comparative Genomic Hybridization* ; Cyclin D1 ; DNA ; Fluorescence ; Humans ; Mass Screening ; Metaphase ; Phyllodes Tumor ; Rhodamines

BACKGROUND: Mantle cell lymphoma/leukemia (MCL) is a distinctive disease entity that has been characterized by specific histopathologic, immunologic, and cytogenetic features. The characteristic cytogenetic abnormality of MCL is t(11;14)(q13;q32), that results in cyclin D1 overexpression. We have experienced 12 MCL cases with bone marrow involvement that were lacking evidence of t(11;14). We tried to review the cases. METHODS: We reviewed the bone marrow findings, immunophenotypic, cytogenetic studies including fluorescent in situ hybridization (FISH) analysis using IGH/CCND1 probes and medical records of 12 patients that were diagnosed with MCL based on immunophenotypic results during the period 1997 to 2001. RESULTS: The patients had a median age of 63 (50-70) years with male-to-female ratio of 3:1. All patients showed hepatosplenomegaly with varying degrees of peripheral blood involvement (2-93%), and lymphocytosis was found in 7 cases. Other presenting features were palpable lymph nodes (83%) and B symptoms (25%). The malignant cells were quite heterogenous in morphology from centrocytic to blastic variants. Most cases showed typical immunophenotypes-expression of CD19, bright CD20, FMC7, CD5 and bright-light chains with negative CD23. Immunohistochemical staining with cyclin D1 on marrow biopsies showed mostly negative results. Among the eleven cases in which cytogenetic studies were possible, four cases showed complex karyotypes, and three that involved 14q32. Strikingly, no one showed t(11;14) in G-banding analysis and only 2 cases showed IGH/CCND1 rearrangement by FISH. CONCLUSTIONS: Most MCL cases with typical immunophenotypic findings did not show evidence of specific cytogenetic features. Although further workups for molecular pathogenesis and clinical follow-up of the above cases need to be done, we suggest a new disease entity, t(11;14)-negative MCL.
Biopsy ; Bone Marrow* ; Chromosome Aberrations ; Cyclin D1 ; Cytogenetics ; Follow-Up Studies ; Humans ; In Situ Hybridization, Fluorescence ; Karyotype ; Lymph Nodes ; Lymphocytosis ; Lymphoma, Mantle-Cell ; Medical Records

Primary lymphoma of the urinary bladder is a rare non-epithelial bladder tumor accounting for less than 1% of all bladder tumors. Approximately 17 cases of MALT lymphomas of bladder have been reported in the literature. Most reported MALT lymphomas of bladder have a female sexual preponderance with a mean age of 58 years with common presenting symptoms of hematuria, dysuria and urinary frequency. The reported prognosis of MALT lymphoma of the urinary bladder is excellent. We report a case of MALT lymphoma of urinary bladder in a 57-year-old woman patient who presented with a two-year history of persistent dysuria and urinary frequency. An intravenous pyelogram and cystoscopy revealed a 1 cm focal elevated lesion at the base of urinary bladder. The tissue obtained by transurethral resection (TUR) showed plasma cell infiltration consistent with low grade marginal zone B cell lymphoma. The immunohistochemical studies showed an immunoglobulin restriction to lambda light chain while the nested polymerase chain reaction analysis of the tissue showed a monoclonal Ig heavy-chain gene rearrangement. The clinical staging protocol revealed that the tumor was primarily arising from the urinary bladder with no evidence of other site involvements. The patient received radiation therapy of 3060 cGy in 17 fractions.
Cystoscopy ; Dysuria ; Female ; Gene Rearrangement ; Hematuria ; Humans ; Immunoglobulins ; Lymphoma ; Lymphoma, B-Cell, Marginal Zone* ; Middle Aged ; Plasma Cells ; Polymerase Chain Reaction ; Prognosis ; Urinary Bladder Neoplasms ; Urinary Bladder*

BACKGROUND: Mucosa-associated lymphoid tissue(MALT) lymphoma has an indolent natural course. However, extra-gastric MALT lymphoma has been reported to have more frequent relapses and shorter time to progress than gastric MALT lymphoma. We performed this study to analyze clinical features of extra-gastric MALT lymphoma. METHODS: We retrospectively reviewed the medical records of the patients who were diagnosed as extra-gastric MALT lymphoma at the Samsung Medical Center from March 1995 to January 1999. The survival was analyzed by Kaplan-Meier method. RESULTS: During the study period, extra-gastric MALT lymphoma was diagnosed in 50 patients. The median age was 51(28-87)yaers. The male to female ratio was 22:28. Commonly involved sites were conjunctiva (25/50, 50%), lung (6/50, 12%) and intestine(6/50, 12%). Histopathologically, low to high grade ratio of extra-gastric MALT lymphoma was 47:3. Among 41 patients who were staged, 32 patients(78%) had stage I or II and 9 patients(22%)had stage IV. B symptoms were seen in only 3 patients. Bone marrow involvement was observed in 4 patients. The duration of median follow up was 22 months. The 1-year and 2-year survival rates were 95.1% and 91.4% retrospectively. CONCLUSION: Majoity of our cases with extra-gastric MALT lymphoma had low grade, early stage, good treatement reponse and good prognosis.
Bone Marrow ; Conjunctiva ; Female ; Follow-Up Studies ; Humans ; Lung ; Lymphoma ; Lymphoma, B-Cell, Marginal Zone* ; Male ; Medical Records ; Prognosis ; Recurrence ; Retrospective Studies ; Survival Rate

BACKGROUND: Mucosa-associated lymphoid tissue (MALT) lymphoma of the stomach has recently been defined as a distinct clinicopathologic entity, often associated with Helicobacter pylori (H. pylori) infection. Characteristics and treatment outcomes of 57 patients with gastric MALT lymphoma were analyzed. METHODS: Retrospective analysis of 57 cases of gastric MALT lymphoma who underwent treatment with various modalities at Samsung Medical Center from Mar. 1995 to Jul. 2000 was performed. RESULTS: The median age of the patients was 47 years (ranged from 22 to 75 years) and the ratio of males to females was 1.1:1. The presenting symptoms were abdominal pain, indigestion and GI bleeding. By Modified Ann Arbor system, stage IE accounted for 70.2%, stage II1E 14.0%, stage II2E 14.0%, and stage IV 1.8%, respectively. H. pylori had been evaluated histologically in 49 cases of which 81.6% was positive. Low grade histology accounted for 71.9% and high grade histology 28.1%. Treatment modalities included H. pylori eradication, surgery, chemotherapy, radiotherapy and their combination therapy. In one case, the patient was observed without treatment. Complete remission rate was 98.2%. H. pylori eradication alone resulted in lymphoma regression successfully in 20 out of 23 patients. With median follow-up of 33 months (3-61 months), median survival was not reached. Overall 3 year survival rate was 94.7%. CONCLUSION: Regardless of treatment modality, high survival rate (3 year survival rate 94.7%) was obtained. H. pylori eradication was feasible and safe in the cases of low grade, stage I, and H. pylori-positive lymphoma, and allowed stomach preservation. Longer follow-up evaluation is required to determine the long-term efficacy and side effects of H. pylori eradication.
Abdominal Pain ; Drug Therapy ; Dyspepsia ; Female ; Follow-Up Studies ; Helicobacter pylori ; Hemorrhage ; Humans ; Lymphoid Tissue ; Lymphoma ; Lymphoma, B-Cell, Marginal Zone* ; Male ; Radiotherapy ; Retrospective Studies ; Stomach ; Survival Rate