1/22. Unique cytological features and chromosome aberrations in chondroid lipoma: a case report based on fine-needle aspiration cytology, histopathology, electron microscopy, chromosome banding, and molecular cytogenetics.Chondroid lipoma is a rare, benign tumor that may mimic soft-tissue sarcoma clinically. Its histopathologic features may resemble hibernoma, myxoid liposarcoma, myxoid chondrosarcoma, and other lipomatous or chondroid neoplasms. In this study, a chondroid lipoma was analyzed by fine-needle aspiration cytology, histopathology, electron microscopy, chromosome banding, and metaphase fluorescence in situ hybridization. The results demonstrate that chondroid lipoma exhibits a characteristic pattern by fine-needle aspiration cytology, including a mixture of benign adipose tissue with lipoblastlike cells, and chondroblastlike cells with a fibrochondroid matrix. Cytogenetically, a three-way rearrangement between chromosomes 1, 2, and 5 was found, together with an 11;16 translocation with a breakpoint in 11q13, approximately 1 Mb proximal to the MEN1 region shown to be rearranged frequently in hibernoma. The presence of a karyotype of low complexity, but without any of the genetic aberrations characteristic for other types of soft-tissue tumors, indicate that chondroid lipoma develops along a unique pathogenetic pathway.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
2/22. Angiomyxolipoma shares cytogenetic changes with lipoma, spindle cell/pleomorphic lipoma and myxoma.Angiomyxolipoma is a rare variant of lipoma, two cases of which have recently been described. We report on the hitherto unreported clonal chromosomal changes of a third case of angiomyxolipoma. The karyotype showed a 46,XX,t(7;13)(p15;q14),t(8;12)(q13;p13)[17]/46,XX[3]. The involvement of 13q14, 12p13, and 8q13 supports a relationship with other types of benign lipomatous and myxoid tumors.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
3/22. Evidence by spectral karyotyping that 8q11.2 is nonrandomly involved in lipoblastoma.We report two cases of lipoblastoma with chromosome 8-related aberrations, ie, a 92,XXYY,t(7;8Xp22;q11.2)x2 [8]/46,XY[16] in Case 1 and a 46,XY,-8,-13,add(16) (q22), mar, r [cp13]/46,XY[7] in Case 2. Using spectral karyotyping and fluorescence in situ hybridization techniques, the karyotype of Case 2 was redesignated as 46,XY, r(8), del(13)(q12), der(16)ins(16;8)(q22; q24q11.2)[cp13]/46,XY[7]. This report delineates a new chromosome rearrangement, ie, der(16)ins(16;8)(q22; q24q11.2) in lipoblastoma, and also confirms the t(7; 8)(p22;q11.2), reported only once previously, as a recurrent translocation involved in such a tumor. These findings provide valuable information for clinical molecular cytogenetic diagnosis of lipoblastoma. Furthermore, this report highlights the value of cytogenetic and molecular cytogenetic analysis in differential diagnosis of childhood adipose tissue tumors and adds to the number of lipoblastomas reported with chromosomal abnormalities at 8q11.2.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
4/22. Case of lipoblastoma with two derivative chromosomes 8 containing homogeneously staining-like regions and a review of the literature: lipoblastoma and chromosome 8.We report a case of a lipoblastoma in a 10-month-old girl in which the cytogenetic aberration showed a homogeneously staining-like region (hsr) within two derivative chromosomes 8. There was a loss of one normal copy of chromosome 8 and gain of two identical derivative chromosomes 8 with the karyotype designation 47,XX,psu idic(8)(pter-->q12 approximately 13::hsr::q12 approximately 13-->pter), psu idic (8)(pter-->q12 approximately 13::hsr::q12 approximately 13-->pter). This is the first report of a chromosomal aberration of this type seen in lipoblastoma.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
5/22. Pai syndrome: an adult patient with bifid nose and frontal hairline marker.Objective: A 17-year-old previously unreported patient with Pai syndrome is described. The boy had median cleft of upper lip, a polypoid skin mass over the columella, a minimal cleft of the upper central incisors, frontal alopecia of the anterior hairline, and bifid nose. magnetic resonance imaging showed pericallosal lipoma. No mental retardation was present, and a chromosomal study showed normal male 46, XY karyotype.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
6/22. cytogenetic analysis of renal angiomyolipoma.Chromosome analysis of a benign, unilateral, renal angiomyolipoma revealed the karyotype 44,XX,-8, -12, -14, -21, der (8q14q), der(12)(12pter 12q14-15::12q24 12q14-15:: 21q21 21qter). This indicates that structural changes of 12q13-15, which are so frequently observed in the common malignant and benign lipogenic tumors, may also occur in the rarer variants of these neoplasms.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
7/22. Supernumerary ring marker chromosome as a secondary rearrangement in a parapharyngeal lipoma with t(10;12)(q25;q15) as the primary karyotypic abnormality.cytogenetic analysis of a large parapharyngeal lipoma, a rare tumor at this site, showed the karyotype 46,XY,t(10;12)(q25;q15)/47,XY,t(10;12)(q25;q15), r. The primary abnormality must have been t(10;12), whereas the r developed secondarily as an additional aberration. Although a similar translocation between chromosomes 10 and 12 has not been described previously, that the tumor had a rearrangement of the 12q13-15 region, the most frequently involved genomic region in lipogenic tumors, indicates that the tumorigenetic mechanisms are identical in parapharyngeal lipomas and lipomas of other locations. Supernumerary ring markers are not usually detected in lipomas with 12q rearrangements but are common in atypical lipomas and well-differentiated liposarcomas. The parapharyngeal lipoma we describe recurred after initial resection, and we hypothesize that the more aggressive tumor phenotype thus demonstrated may be causally related to the clonal evolution it had undergone.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
8/22. Intrascrotal lipoblastoma with a complex karyotype: a case report and review of the literature.lipoblastoma is a tumor of adipose tissue that usually occurs in young children. Most lipoblastomas occur on the extremities, trunk, and head and neck, and most have rearrangements of the 8q region. We describe a lipoblastoma in a 12-month-old boy who presented with a rapidly enlarging scrotal mass. Electron microscopy revealed features consistent with immature adipocytes, and cytogenetic analysis revealed the following karyotype: 57,XY, 4, 6, 7,der(8)t(8;12) (q22;q13), der(8)t(8;12) (q22;q13), 9, 10, 12,-16, 17, der(18)t(8;18)(q22;q23), 19, 20. Interestingly, the breakpoint on chromosome 12 (q13) is the same as that seen in lipoblastomas. To our knowledge, this is the first reported case of such a complex karyotype in lipoblastoma and adds to the expanding list of karyotypic abnormalities seen in such tumors.- - - - - - - - - - ranking = 6keywords = karyotype (Clic here for more details about this article) |
9/22. Atypical lipomatous tumor with rare structural rearrangements involving chromosomes 8 and 12.Atypical lipomatous tumor (ALT), an intermediate malignant neoplasm of soft tissues, is characterized by the presence of supernumerary ring and giant marker chromosomes. These supernumerary chromosomes consistently contain amplified 12q-material in association with amplified segments from a variety of other chromosomes. However, a few cases of ALT with other types of chromosomal rearrangements have been reported earlier. We report on new types of structural aberrations in a case of ALT. In a pseudodiploid karyotype, there were two aberrant chromosomes, both consisting of alternating chromosome 8 and 12 sequences as shown by multicolor fluorescence in situ hybridization (FISH). The complex rearrangement was not only the result of multiple breaks and reunions of these chromosomes, but was also associated with a gain of chromosome 12 sequences. FISH analyses revealed that the number of MDM2 signals was slightly elevated (median, 5). There were three intact copies of HMGA2 and one additional copy of the 5' part of the gene. These findings are consistent with previous reports that the ALT phenotype may be associated with a low or moderate level of gene amplification, whereas truncation of HMGA2 has been observed in both ALTs and benign lipomas. The aberrations in the present case were stable, although rare cells with higher MDM2 copy numbers were detected. Whether ALTs with these types of aberrations have a lower risk of tumor progression than ALTs with the notoriously mitotically unstable ring and giant marker chromosomes remains to be investigated.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
10/22. Pai syndrome (median cleft palate, cutaneous nasal polyp, and midline lipoma of the corpus callosum): a case report and literature review.In this article, we describe a patient with Pai syndrome. This infant was born with an unusual median cleft of the upper lip, a pedunculated cutaneous mass that protruded from the right nostril, double frenulum of the upper lip, and median alveolar cleft. MRI showed a midline corpus callosal lipoma. Mental development was normal and chromosomal analysis revealed a normal male 46, XY karyotype.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
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