No chromosomal imbalances in seborrheic keratoses detectable by comparative genomic hybridization.
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Chromosomes, Human↗
Biomedical subjects
Bastian Gunawan
Publications and source records attributed to Bastian Gunawan.
Non-gluten sensitivity-related small bowel villous flattening with increased intraepithelial lymphocytes: not all that flattens is celiac sprue.
Seven patients (mean age, 37.6 years; 5 women) had several weeks of gluten sensitivity (GS)-like symptoms; 2 had flu-like symptom prodromes. The 7 cases had morphologically similar biopsy specimens; all tissue fragments had uniform injury--increased lymphoplasmacytic lamina propria inflammation, moderate to complete villous flattening, numerous crypt mitoses, and markedly increased villous intraepithelial lymphocytes (IELs). All patients were diagnosed with GS and prescribed a gluten-free diet; all returned 9 to 38 weeks later questioning their diagnosis because symptoms had resolved substantially or completely. Clinical improvement was unrelated to gluten abstinence or ingestion. Repeated endoscopy and colonoscopy performed 4.1 to 16 months later showed normal mucosa in all 7 patients. Diseases other than GS can cause marked villous flattening and increased villous IELs in adults. The cause of small bowel mucosal injury is unknown. A similar non-GS-associated clinicopathologic complex, assumed to be due to a protracted viral enteritis or slow regression of a virus-induced immune reaction, occurs in children. The temporal aspects of symptom improvement and mucosal restitution in these 7 patients are similar to "acute self-limited colitis." An overly exuberant immune response to an infectious agent is possible.
Adult↗
Cytogenetic and morphologic typing of 58 papillary renal cell carcinomas: evidence for a cytogenetic evolution of type 2 from type 1 tumors.
We evaluated clinical characteristics, patient outcome (mean follow-up, 47 months), and cytogenetic abnormalities in the largest as yet reported cytogenetic series of 47 primary and 11 secondary papillary renal cell carcinomas for differences between the recently proposed type 1 and type 2 subtypes. Secondary tumors were more often of type 2 morphology (P = 0.02), whereas primary type 2 tumors were associated with higher clinical stage (P = 0.001) and worse patient outcome (P = 0.02). Although both subtypes had at least one of the primary chromosomal gains at 17q, 7, and 16q, type 2 tumors had moderately lower frequencies of primary gains at 17p (61 versus 94%; P = 0.007) and 17q (72 versus 97%; P = 0.02). On the other hand, type 2 tumors overall had more chromosomal alterations than type 1 tumors (P = 0.01), particularly gains of 1q (28 versus 3%; P = 0.02) and losses of 8p (33 versus 0%; P = 0.001), 11 (28 versus 3%; P = 0.02), and 18 (44 versus 9%; P = 0.01). Hierarchical clustering suggested cytogenetic patterns common but not restricted to type 2 morphology, one characterized by multiple additional gains, and another predominantly showing additional losses. These findings provide genetic evidence that type 1 and type 2 tumors arise from common cytogenetic pathways and that type 2 tumors evolve from type 1 tumors. Independently of type, losses of 9p were statistically correlated with advanced disease (P = 0.0008) and may serve as a potential adverse prognostic marker in papillary renal cell carcinomas.
Adult↗
Cytogenetic characterization of three malignant peripheral nerve sheath tumors.
Malignant peripheral nerve sheath tumors (MPNST) are soft tissue sarcomas occurring frequently in patients with neurofibromatosis 1. We present three fully karyotyped cases of MPNST revealing aberrant near-triploid karyotypes. In all three cases we found deletions of chromosome arms or chromosomes 1p, 10q, 9, and 15, as well as gain of chromosome 7 in two NF1-associated cases and gain of chromosome 8 in an NF1-associated and a sporadic case. The chromosomal region of the NF1 gene was cytogenetically unchanged in all cases, whereas two MPNST cases showed losses of the region 22q harboring the locus of the NF2 gene.
Adult↗
Recurrence and rapid metastasis formation of a granular cell tumor of the vulva.
Histologically confirmed local recurrence of the rare entity of a granular cell tumor of the vulva was diagnosed in a 55-year-old patient with no signs of distant metastasis. Intraoperatively (local excision of mons pubis and inguinal lymphnodes), widespread regional metastasis with retroperitoneal lymphnode metastases were found. Postoperative restaging detected pulmonary, hepatic and skeletal metastases and the patient died of her disseminated disease within 4 months. Early diagnosis of the malignant phenotype of granular cell tumor using expression of S-100-protein, MIB-1, vimentin and p53 is suggested. Once a malignant granular cell tumor is diagnosed histologically, thorough staging procedure should be performed to exclude disseminated disease. If this is the case, radical surgery should be tried due to the lack of efficiency of radiotherapy and of systemic treatments.
DNA, Neoplasm↗
Identification of a BAC clone overlapping the t(6p12.3) breakpoint in the cell line ESS-1 derived from an endometrial stromal sarcoma.
A major subgroup of endometrial stromal sarcomas (ESS) is characterized by translocations involving chromosome 6 with consistent breakpoints at 6p11 approximately p21. As part of an ongoing positional cloning effort to identify the genes affected by these translocations, this article reports on the delineation of the 6p breakpoint in the cell line ESS-1 derived from an ESS. The G- and 4',6-diamidino-2-phenylindole-banded karyotypes showed an unbalanced translocation described originally as der(3)t(3;6) (q29;p21.1). Fluorescence in situ hybridization using probes derived from contigous yeast artificial chromosome, bacterial artificial chromosome (BAC), and P1-derived artificial chromosome clones specific to 6p12.3 approximately p21.1 located the breakpoint at 6p to the BAC clone RP11-337K13 mapping to 6p12.3. The DNA sequence of the breakpoint region contained in RP11-337K13 will serve as a candidate locus for further molecular genetic analyses to isolate the gene(s) altered in ESS with 6p rearrangement.
Chromosome Mapping↗
Simultaneous sertoli cell tumor and adenocarcinoma of the tunica vaginalis testis in a patient with testicular feminization.
BACKGROUND: The association of testicular feminization with late diagnosis in a patient with a large Sertoli cell tumor and a metastasizing adenocarcinoma of the tunica vaginalis testis is unusual. CASE: Testicular feminization was diagnosed in a 72-year-old patient, who was admitted with a large lower abdominal mass. Histologically, we found a well-differentiated Sertoli cell tumor and an adenocarcinoma of the tunica vaginalis testis with metastases in the sigmoid colon, rectum, and omentum. Explorative laparotomy revealed a large pelvic tumor mass and extensive peritoneal carcinosis. After debulking surgery to optimal residual disease and four courses of chemotherapy (cisplatin and etoposide), there was no evidence of disease (clinically) for 24 months before an intraabdominal and inguinal relapse occurred. Due to the unwillingness of the patient to receive salvage chemotherapy or palliative abdominal surgery, the disease progressed rapidly and she died 27 months after the initial operation. CONCLUSION: This is the first reported case of an advanced carcinoma of the tunica vaginalis testis occurring simultaneously with a large Sertoli cell tumor in a patient with testicular feminization. Surgical debulking and platinum-based chemotherapy rendered the patient clinically free of disease for 2 years.
Adenocarcinoma↗
Cytogenetic characterization of complex karyotypes in seven established melanoma cell lines by multiplex fluorescence in situ hybridization and DAPI banding.
We report the use of multiplex fluorescence in situ hybridization (M-FISH) to resolve chromosomal aberrations in seven established melanoma cell lines with hypotriploid to hypertetraploid complex karyotypes. By simultaneous identification of all human chromosomes in single FISH experiments using a set of 52 directly labeled, whole chromosome painting probes, cryptic chromosomal translocations and the origin of unclear chromosomal material in structural rearranged and marker chromosomes could be identified, refining the tumor karyotypes in all seven cell lines. The number of structural aberrations in each cell line assigned with combined M-FISH and DAPI banding analysis ranged from 15 to 45. Altogether, 275 breakpoints could be assigned to defined chromosomal regions or bands. The chromosome arms 1p, 6q, 7p, 9p, and 11q which are known to be nonrandomly associated with melanoma tumorigenesis, were frequently involved in chromosomal breaks and/or copy number changes. This study also demonstrated the practical usefulness of combining M-FISH with conventional cytogenetic banding techniques for the characterization of complex tumor karyotypes with massive genomic alterations.
Adult↗
Biological and clinical significance of cytogenetic abnormalities in low-risk and high-risk gastrointestinal stromal tumors.
We report cytogenetic findings in 19 c-Kit-positive gastrointestinal stromal tumors (GISTs) that represent a heterogenous group of mesenchymal neoplasms with respect to site, histology, and biologic behavior. All of the GISTs (5 low-risk, 11 high-risk, 3 recurrences) displayed clonal chromosomal aberrations; 15 were hypo- to near-diploid, and 4 were near-triploid and hypotetraploid. The most common abnormalities were loss of chromosomes 14 and/or 22, demonstrated in 14 GISTs irrespective of site or predominant phenotype. Ten cases (2 low-risk, 5 high-risk, 3 recurrences) were characterized by loss of both chromosomes 14 and 22, 2 cases (1 low-risk, 1 high- risk), by loss of chromosome 14; and 2 high-risk cases, by loss of chromosome 22. Additional chromosomal aberrations occurred preferentially in high-risk and recurrent GISTs, including loss of 9p and 1p in 8 cases each, loss of 15 in 6 cases, loss of 3p in 5 cases, loss of 13q and 10q in 4 cases each, loss of 19 in 3 cases, and complete or partial gains of chromosomes 5 and 4 in 2 cases each. More significantly, 5 of 6 patients with clinically aggressive GISTs, including 2 recurrences and 3 metastasing GISTs, were additionally characterized by loss of 9p; four of these had additional loss of chromosomes 1p and 15. The presented results herein indicate that loss of chromosome 14 and/or 22 is an early change in GIST tumorigenesis irrespective of site or differentiation, whereas malignant transformation and progression of GISTs appear to be associated with an increasing incidence of additional secondary aberrations.
Adult↗
The potential value of comparative genomic hybridization analysis in effusion-and fine needle aspiration cytology.
Comparative genomic hybridization (CGH) is a molecular cytogenetic technique that provides an overview on chromosomal imbalances within the whole tumor cell genome. This method has yet not been applied in effusion cytology. We performed CGH analysis in malignant effusions, fine needle aspirates, and imprint smears from eight ovarian adenocarcinomas, three breast carcinomas, one colon adenocarcinoma, and three malignant mesotheliomas. In part, CGH analysis from fresh frozen tissue and classic karyotyping served as controls. In this series, 14/15 cytologic specimens were suitable for extraction of high molecular weight DNA sufficient for reliable CGH analysis. CGH profiles from cytologic material were equal or even more significant in comparison with corresponding fresh frozen tumor samples. We conclude that CGH analysis from cytologic specimens may support the primary cytologic diagnosis of malignancy, especially in the differential diagnosis of benign proliferating mesothelium, malignant mesothelioma, and metastatic adenocarcinoma. CGH analysis of metastatic lesions may provide information on the site of the primary tumors and detects cytogenetic imbalances affecting oncogenes and tumor suppressor genes involved in tumor progression and metastatic spread.
Aged↗
Orthotopic SCID mouse model with two newly established human lung squamous carcinoma cell lines.
The objective of this study was to present an orthotopic SCID mouse model using two newly established human cell lines derived from squamous cell carcinomas of the lung. GO-LCC1 cells (1 x 10(6)) and GO-LCC2 cells (3 x 10(6)) were implanted orthotopically into the right lungs of 10 C.B. 17 scid/scid mice. In both groups, aggressive tumor growth with partial infiltration of the thoracic wall, heart and diaphragm was observed. In only one case distant metastases in the contralateral lung were detected, while all animals developed tumors at the site of inoculation. Xenografted GO-LCC1 cells showed enhanced tumor propagation compared to GO-LCC2 cells. Our data underscore the usefulness of the SCID mouse model to study the biological behaviour of cultuved human tumor cells and furthemore demonstrate the clinical applicability of xenograft techniques using human tumor cell lines derived from pneumonectomy specimens of squamous lung carcinomas.
Animals↗
Polysomy 8 in three cases of homologous malignant mixed Müllerian tumors of the uterus.
Unique genetical gain of 8q and/or polysomy 8 identified after short-term culture are presented in three cases of malignant mixed Müllerian tumors (MMMT) of the uterus. All tumors revealed abnormal karyotypes and modal chromosome numbers in the hyperdiploid range. Two out of three cases exclusively demonstrated numerical aberrations, most prominently polysomy 8. One tumor revealed tetrasomy 8 as the sole aberration. The third tumor showed a more complex karyotype, including two unbalanced translocations, leading to partial gain of 8q. These cytogenetic findings, together with 14 previously reported cases of MMMT and 5 cell lines, suggest a distinct subgroup of endometrial MMMT characterized by gain of chromosome 8 or 8q.
Aged↗