1/19. neuroblastoma in two siblings supports the role of 1p36 deletion in tumor development.Familial neuroblastoma occurs rarely. We studied a family with three children; one of them has a disseminated (stage 4) and another has a localized (stage 2) neuroblastoma. We observed subtelomeric locus D1Z2 (1p36) deletion in both tumors by using double-color fluorescence in situ hybridization. The MYNC gene was found in single copy in both tumors. loss of heterozygosity (LOH) and restriction fragment length polymorphism analyses were performed by using dna from frozen tumor cells and from microdissected tumor areas excised from paraffin-embedded sections. We detected somatic LOH at locus D1S468 (1p36) in a tumor-cell population with a trisomy 1 of the stage-2 patient. neuroblastoma cells of the stage-4 patient were diploid and showed allelic loss at the following loci: D1S172, D1S80, D1S94, D1S243, D1S468, D1S214, D1S241, and D1S164. Haplotype study showed that the siblings inherited the same paternal 1p36-->pter chromosome region by homologous recombination and that, in the two tumors, arm 1p of different chromosomes of maternal origin was damaged. Our results suggest that the siblings inherited the predisposition to neuroblastoma associated with paternal 1p36 region and that tumors developed as a consequence of somatic loss of the maternal 1p36 allele.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
2/19. A case of Down's syndrome associated with progressive extradural neuroblastoma.We describe a case of Down's syndrome associated with progressive extradural neuroblastoma. Postmortem aspiration of the bone marrow revealed diffuse infiltration by tumor cells, in which trisomy 21 was found by fluorescence in hybridization in situ.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
3/19. Coexistence of several unbalanced translocations in a case of neuroblastoma: the contribution of multicolor spectral karyotyping.spectral karyotyping (SKY) is based on the simultaneous hybridization of a set of 24 chromosome-specific dna painting probes, each labeled with a different fluor combination. Automatic classification, based on the measurement of the spectrum for each chromosome, was applied to metaphases obtained from the affected bone marrow of a neuroblastoma case. spectral karyotyping allowed the identification of chromosomal aberrations that could not be identified by the use of the G-banding technique, and revealed a number of gains and unbalanced translocations.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
4/19. Involvement of chromosomes 1 and 17 in a case of neuroblastoma.We report here the cytogenetic analysis of a neuroblastoma from a 6-month-old male. Both conventional GTG banded analysis and fluorescence in situ hybridization were performed. The tumour was found to have a der(17)t(1;17)(p34;q21).- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
5/19. Primary neuroblastoma of the maxillary sinus.Although neuroblastoma is the most common of extracranial solid tumors of childhood and infancy, we report the first case of an isolated neuroblastoma of a paranasal sinus. A 15-year-old girl with a right maxillary sinus mass was asymptomatic except for persistent epiphora. Computed tomography and magnetic resonance imaging scans showed that the mass extended into the nasal cavity, encroached on the lamina papyracea, and obstructed the nasofrontal duct. An extensive workup revealed no evidence of systemic disease. The patient underwent right craniofacial resection. immunohistochemistry and electronmicroscopic findings were consistent with conventional neuroblastoma. fluorescence in situ hybridization analysis was performed with probes selected to demonstrate genetic alterations associated with neuroblastoma. Studies revealed deletion of chromosome arm 1p, gain of chromosome 17, and normal N-myc gene copy number. In summary, the tumor exhibited morphologic features and genetic alterations more consistent with those of neuroblastoma than with those of esthesioneuroblastoma.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
6/19. Evolution of unbalanced gain of distal chromosome 2p in neuroblastoma.neuroblastoma, one of the most common tumors of childhood, presents at diagnosis with a vast number of recurrent chromosomal imbalances that include hyperdiploidy for whole chromosomes, partial loss of 1p, 3p, 4p, 11q, 14q, partial gain of 1q, 7q, 17q and amplification of MYCN. These abnormalities are nonrandomly distributed in neuroblastoma as loss of 3p and 11q rarely occur in MYCN amplified neuroblastomas. Here, we report on a patient who had a non-MYCN amplified 3p-/11q- neuroblastoma at diagnosis who subsequently developed a high level of MYCN amplification in bone marrow metastases 41 months after induction of complete remission. The tumor at diagnosis had low level unbalanced gain of distal 2p. In order to assess the frequency of low level gain of distal 2p in neuroblastoma, we examined the comparative genomic hybridization results from 60 neuroblastomas. Among non-MYCN amplified neuroblastomas, 8/45 (18%) had low level gain of distal 2p. Low level gain for a segment of 2p (i.e. a region larger than the 2p23-->p24 undergoing amplification) was also detected in five of the 15 tumors that had high level MYCN amplification. The possibility that low level gain of distal 2p is a risk factor for high level MYCN amplification is discussed.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
7/19. Balanced t(11;15)(q23;q15) in a TP53 / breast cancer patient from a Li-Fraumeni syndrome family.li-fraumeni syndrome (LFS) is characterized by early-onset carcinogenesis involving multiple tumor types and shows autosomal dominant inheritance. Approximately 70% of LFS cases are due to germline mutations in the TP53 gene on chromosome 17p13.1. Mutations have also been found in the CHEK2 gene on chromosome 22q11, and others have been mapped to chromosome 11q23. While characterizing an LFS family with a documented defect in TP53, we found one family member who developed bilateral breast cancer at age 37 yet was homozygous for wild-type TP53. Her mother also developed early-onset primary bilateral breast cancer, and a sister had unilateral breast cancer and a soft tissue sarcoma. cytogenetic analysis using fluorescence in situ hybridization of a primary skin fibroblast cell line revealed that the patient had a novel balanced reciprocal translocation between the long arms of chromosomes 11 and 15: t(11;15)(q23;q15). This translocation was not present in a primary skin fibroblast cell line from a brother with neuroblastoma, who was heterozygous for the TP53 mutation. There was no evidence of acute lymphoblastic leukemia in either the patient or her mother, although a nephew did develop leukemia and died in childhood. These data may implicate the region at breakpoint 11q23 and/or 15q15 as playing a significant role in predisposition to breast cancer development.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
8/19. Congenital neuroblastoma in a patient with partial trisomy of 2p.We report the fourth example of a patient with germline partial trisomy of 2p21-pter and congenital neuroblastoma. The male infant had a dysmorphic facial expression and presented with congenital heart disease, supernumerary nipples, hypospadias, shawl scrotum, hemilateral persistent hyperplastic primary vitreous, and neuroblastoma. His germline karyotype of 46,XY,der(8)t(2;8)(p21;p23.2) was inherited from a maternal-balanced translocation, which indicates that the proto-oncogene MYCN region of 2p24.3 is tripicated in germline cells. A cytogenetic study of the biopsied tumor cells did not show MYCN amplification, but the dna index was 2.4 and histologic fluorescent in situ hybridization analysis indicated somatic mutation with near-pentaploidy of the tumor cells. This could be an alternative mechanism of MYCN activation in the process of the tumorigenesis of neuroblastoma.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
9/19. Peripheral primitive neuroectodermal tumor with postchemotherapy neuroblastoma-like differentiation.We report the case of an 11-year-old girl with a retroperitoneal tumor in the left upper quadrant. The girl was admitted to hospital with weight loss and a painless abdominal mass that on biopsy was diagnosed as a peripheral primitive neuroectodermal tumor/Ewing sarcoma (pPNET/EWS) of the soft tissue. The patient underwent chemotherapy followed by surgical resection of the tumor 5 months after diagnosis. The posttreatment residual viable tumor showed a morphologic appearance resembling a neuroblastoma. interphase and metaphase fluorescent in situ hybridization (FISH) studies performed on the pretreatment and posttreatment samples showed the presence of a t(11;22) rearrangement resulting in EWSR1/FLI1 gene fusion consistent with pPNET/EWS in both specimens. This case is unusual in the sense of showing the typical gene fusion for pPNET/EWS both in the pretherapy sample with the typical morphological appearance of this tumor and in the posttherapy specimen showing neural differentiation suggestive of a neuroblastoma.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
10/19. Chromosomal localization of amplified N-myc in neuroblastoma cells using a biotinylated probe.G-banded chromosome analysis of neuroblastoma cells from two children revealed homogeneously staining regions (hsr) in one patient and double minutes (dmin) in the other. Subsequently, both abnormalities were confirmed as areas of N-myc amplification using chromosomal in situ hybridization with a biotinylated N-myc probe. In addition, the first patient's karyotype contained a possible derivative chromosome 17, which was also demonstrated to contain amplified N-myc, indicating the presence of an hsr unidentified by G-banding. Intercellular heterogeneity in the degree of amplification was also identified in the nuclei of interphase cells. This technique provides a quick method for detecting gene amplification, the identification of which may have useful clinical implications.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
| | Next -> |