Recurrent t(16;17)(q22;p13) in aneurysmal bone cysts.

Aneurysmal bone cyst (ABC) is a benign bone lesion for which no previous cytogenetic data exist. We describe the finding of clonal chromosome aberrations in three tumors; two had a t(16;17)(q22;p13) as the sole anomaly, and the third had a del(16)(q22) as the only change. These findings show that somatic mutations contribute to the development of ABC and furthermore indicate that bands 16q22 and 17p13 may harbor genes of importance in this process.     

Novel clonal der(8)t(8;14)(p11;q11),del(9)(q13q22) and t(14;22) (q13;q13) in a patient with fulminant adult T-cell leukemia/lymphoma

We describe a 70-year-old man with fulminant adult T-cell leukemia/lymphoma. He died of progressive disease 1 week after the onset of symptoms. The integrated viral DNA of human T-lymphotropic virus type I was detected in the bone marrow aspirate by polymerase chain reaction. Cytogenetic analysis of bone marrow cells showed novel clonal aberrations consisting of 46,XY,der(8)t(8;14)(p11;q11),del(9) (q13q22),t(14;22)(q13;q13).     

Trisomy 18q: 46, XX,13q+,t(13;18)(q32;q11) in a newborn associated with multiple congenital anomalies due to paternal reciprocal translocation, 46, XY,-13,+der(13)/t(13;18)(q32;q11)

A 20-day-old female neonate presented with multiple congenital anomalies, convulsions and failure to thrive. Karyotype analysis of the proposita revealed an unbalanced translocation, 46, XX,13q+,t(13;18)(q32;qll)pat resulting in partial trisomy 18q. Her father and a 5-year-old sister were phenotypically normal, balanced translocation carriers, 46, XY, -13, + der(13),t(13;18)(q32;qll) and 46, XX,-13,+der(13),t(13;18)(q32;qll), respectively. The case presented here is the second liveborn reported with trisomy 18q and is of interest from the point of view of the structural chromosomal aberration resulting in the manifestations of most features of trisomy 18 and some of 13q monosomy. The infant died due to convulsions at the age of 2 months.     

Familial t(11;13)(q21;q14) and the duplication 11q, 13q phenotype

Cases of duplication of distal 11q or proximal 13q have been reported independently. A specific translocation resulting in duplication of distal 11q, [der(22)t(11;22)(q23;q11)], has been documented in over 40 cases. We report on a male fetus with chromosomal excess of both distal 11q and proximal 13q resulting from a familial translocation. This case supports the causal association of duplication 11q with neural tube defects. © 1993 Wiley-Liss, Inc.     

Trisomy 13 due to rea(13q;13q) is caused by i(13) and not rob(13;13)(q10;q10) in the majority of cases

We have used 20 PCR-based DNA polymorphisms to determine whether trisomy 13 due to de novo rea(13q;13q) in six cases is caused by translocation (13q;13q) or isochromosome (13q;13q); to determine the parental origin of the rearrangements and the mechanisms of formation. The six probands were three liveborn children with clinical features characteristic of Patau's syndrome and three fetuses diagnosed prenatally by amniocentesis or CVS. Five cases were isochromosomes with two identical q arms, one of maternal and four of paternal origin. Only one case was a Robertsonian translocation of maternal origin.     

INTERPHASE FLUORESCENCE IN SITU HYBRIDIZATION DETECTION OF t(2;13)(q35;q14) IN ALVEOLAR RHABDOMYOSARCOMA—A DIAGNOSTIC TOOL IN MINIMALLY INVASIVE BIOPSIES

The identification of t(2;13)(q35;q14) is a useful aid in the accurate diagnosis of rhabdomyosarcoma, distinguishing it from other small round cell tumours and supporting the distinction between alveolar and embryonal forms. Cytogenetic analysis is difficult and with the increased use of minimally invasive biopsy methods and primary chemotherapy, adequate tumour material is not always available. To overcome these difficulties, two-colour interphase fluorescence in situ hybridization (FISH) to detect t(2;13)(q35;q14) was developed and its utility in assessing minimally invasive biopsies was investigated. Two cosmid clones which mapped proximal or distal to the breakpoint region 13q14 and one yeast artificial chromosome clone that mapped distal to the 2q35 breakpoint were identified. In interphase cells containing t(2;13)(q35;q14), the configuration of cosmid and yeast artificial chromosome signals demonstrated the presence of the translocation. Five cases of rhabdomyosarcoma were analysed by interphase FISH. The t(2;13)(q35;q14) was detected in all four alveolar tumours and was confirmed by cytogenetics in two cases, but was absent in one embryonal tumour. This sensitive detection method is applicable to minimal amounts of fresh or frozen tumour.     

Translocation (12;17)(q13;q23) in de novo acute myeloid leukemia with trilineage myelodysplasia.

12q13 abnormalities have been reported to be associated with a variety of benign and malignant solid tumors. Recently, they have been shown to be a nonrandom karyotypic change in acute myeloid leukemia. We report a case of de novo acute myeloid leukemia with trilineage myelodysplasia showing t(12;17)(q13;q23) as the sole chromosomal abnormality. A review of the literature indicates that 12q13 translocation in acute myeloid leukemia is often associated with concomitant dysmyelopoietic changes. There is also evidence to suggest that 12q13 translocation occurs more frequently in acute myeloid leukemia with a prior history of mutagenic exposure or karyotypic indicators of secondary leukemia.     

Reciprocal translocation t(3;12)(q27;q13) in lipoma

A reciprocal translocation, t(3;12)(q27;q13), was found as the sole karyotypic abnormality in an intramuscular lipoma. The morphology of the derivative 3q+ was strongly reminiscent of the large ring marker we have previously described in three other lipomas, indicating a pathway through which the rings may have arisen. These data, combined with the previous preliminary report by Turc-Carel et al. of a similar t(3;12) in another lipoma strongly suggest that this rearrangement may be a characteristic cytogenetic marker in benign lipogenic tumors.     

A five-way complex translocation in a patient with chronic myelocytic leukemia: t(4;18;13;9;22)(q12;q11.2;q14;q34;q11.2)

A 10-year-old boy with chronic myelocytic leukemia was found to have a new complex Philadelphia translocation. All of the bone marrow cells and the peripheral blood cells had a rearrangement of a five-way translocation. t(4;18;13;9;22)(q12;q11.2;q14;q34;q11.2). The patient eventually died in blast crisis 6 years, 9 months later.     

Translocation t(3;12)(q28;q14) in parosteal lipoma

Parosteal lipoma is a rare primary benign bone tumor demonstrating histopathologic features similar to those seen in the commonly occurring lipoma of soft tissue. Cytogenetic studies of soft tissue lipoma have demonstrated frequent abnormalities of 12q13–15. To the best of our knowledge the cytogenetic findings in parosteal lipoma have not yet been described. Cytogenetic analysis of a parosteal lipoma of the femur of a 51-year-old female revealed a t(3;12)(q28;q14), indicating that bone and soft tissue lipomas are cytogenetically similar and likely share a common histopathogenesis.     

Band 11 q 13 is nonrandomly rearranged in hibernomas

Cytogenetic study of a short-term culture from a hibernoma, a very rare benign proliferation of the brown fat, demonstrated a four-break translocation t(5;7;11;17)(p14;q11.23;q13.1-13.3;p11.2) as the sole abnormality in all analyzed cells. Complex translocations involving band 11 q 13 have also been detected in the two other published cases of hibernoma. The consistent finding of 11 q 13 rearrangements appears to distinguish hibernoma from other benign adipose tissue tumors cytogenetically and suggests that 11 q 13 changes may play an important role in hibernoma pathogenesis. Genes Chrom Cancer 9:145-147 (1994). Inc.© 1994 Wiley-Liss, Inc.     

The (11;14)(q13;q32) translocation in multiple myeloma. A morphologic and immunohistochemical study

We identified 24 cases of multiple myeloma with the t(11;14)(q13;q32). In 22 cases, the t(11;14)(q13;q32) was part of a complex karyotype, and in 2 cases it was an isolated abnormality. All patients had clinical and laboratory features consistent with multiple myeloma. The median degree of plasma cell involvement in the bone marrow was 60%, and in 10 cases, the plasma cells had a lymphoplasmacytoid appearance. Of the 24 cases, 21 had intermediate or high proliferative rates based on labeling index studies. Immunohistochemical studies performed on all bone marrow biopsy specimens showed strong cyclin D1 nuclear positivity in 19 cases. There also was strong cyclin D1 nuclear positivity found in 6 of 30 additional cases without the t(11;14)(q13;q32) demonstrated by routine cytogenetics. The t(11;14)(q13;q32) in multiple myeloma results in overexpression of the cyclin D1 protein, which can be demonstrated by immunohistochemical stain. The cyclin D1 stain results in the additional cases of multiple myeloma suggest that the t(11;14)(q13;q32) may be more common than previously thought and may be missed by routine cytogenetics, particularly if the proliferative rate is low.     

Derivative (14)t(11;14)(q13;q32)t(11;14)(p11.2;p11.2): a novel unbalanced variant of the t(11;14)(q13;q32) translocation in mantle cell lymphoma

We report the case of a 62-year-old man who presented with splenomegaly, leukocytosis, anemia, and thrombocytopenia. Examination of the peripheral blood, bone marrow, and spleen revealed involvement by mantle cell lymphoma, with some blastoid features and an atypical phenotype. Spleen and bone marrow classical chromosome analysis followed by fluorescence in situ hybridization revealed a novel and unusual unbalanced variant of the t(11;14)(q13;q32) translocation, resulting in a complex derivative chromosome harboring the IGH/CCND1 fusion gene. This chromosome was designated as der(14)t(11;14)(q13;q32)t(11;14)(p11.1;p11.2).     

t(5;12)(q13;p13) in acute myeloid leukemia with preceding granulocytic sarcoma

A 56-year-old woman was brought to the emergency room with gum swelling and pain. Biopsy of the gingiva revealed sheet-like proliferation of myeloperoxidase and CD45-positive large cells, and she was diagnosed with granulocytic sarcoma. Two years later, bone marrow involvement of granulocytic sarcoma was suspected. Her chromosome study repeatedly revealed a 46,XX,t(5;12)(q13;p13) karyotype. Case reports of t(5;12)(q13;p13) are extremely rare in the literature. To our knowledge, this is the first report of t(5;12)(q13;p13) in a patient with acute myelogenous leukemia with preceding granulocytic sarcoma.     

Primitive small round cell tumour of the adrenal gland presenting with fever of unknown origin and t(12;22)(q13;q12) cytogenetic finding

This report describes a left adrenal tumour in a 16 year old Chinese girl who presented with fever of unknown origin. The histological and ultrastructural features of the adrenal tumour were those of a primitive small round cell tumour with neuroendocrine differentiation. Cytogenetic analysis of cultured tumour cells showed a reciprocal translocation t(12;22)(q13;q12). This is the first example of such a tumour being reported in the adrenal gland. The adrenal tumour was also the cause of the fever, which subsided after the removal of the tumour.     

Comparative genomic hybridization reveals frequent chromosome 13q and 4q losses in renal carcinomas with sarcomatoid transformation

Renal cell carcinomas (RCCs) with sarcomatoid transformation show the most malignant behaviour of all renal carcinoma types. In this study, comparative genomic hybridization was used to screen for losses and gains of DNA sequences along all chromosome arms in 12 sarcomatoid (S) RCCs. On average, there were 8·6 aberrations per tumour. DNA sequence losses (5·2±4·4) were slightly more frequent than gains (3·4±2·6). DNA gains most often involved chromosomes 17 (33 per cent), 7, and 8q (25 per cent each). High-level co-amplification involving 11q22–23 and 7p21–22 in one SRCC was not present in adjacent non-sarcomatous tumour areas, raising the possibility of oncogene involvement at these loci for sarcomatoid transformation. DNA losses were most prevalent at 13q (75 per cent) and 4q (50 per cent), suggesting that inactivation of tumour suppressor genes at chromosomes 13q and 4q may be linked to sarcomatoid growth of RCC. It is concluded that SRCCs are genetically highly complex. Chromosomes 13q, 4q, 7p21–22, and 11q22–23 may carry genes with relevance for sarcomatoid growth in RCC. © 1998 John Wiley & Sons, Ltd.     

A novel t(6;13)(q15;q34) translocation in a giant cell reparative granuloma (solid aneurysmal bone cyst)

Aneurysmal bone cyst is a rapidly growing and locally aggressive lesion that commonly affects children and young adults. Initially regarded as a reactive process, primary aneurysmal bone cyst is now widely accepted as a neoplasm owing to recent findings of recurrent clonal chromosomal alterations, mostly t(16;17)(q22;p13). However, other infrequent chromosomal rearrangements have also been reported. Giant cell reparative granuloma, previously regarded as a nonneoplastic process and histologically indistinguishable from the solid variant of aneurysmal bone cyst, is frequently seen in the gnathic bones and the short tubular bones of the hands and feet. Here we present such a case of giant cell reparative granuloma (solid aneurysmal bone cyst) in the finger of a 63-year-old white man. Cytogenetic analysis revealed a novel alteration involving a reciprocal translocation between 6q and 13q, with a karyotype of 46,XY,t(6;13)(q15;q34),del(20)(q13.1).     

A der(13)t(7;13)(p13;q14) with monoallelic loss of RB1 and D13S319 in myelodysplastic syndrome

Deletions or translocations of chromosome band 13q14, the locus of the retinoblastoma gene (RB1), have been observed in a variety of hematological malignancies including myelodysplastic syndrome (MDS). We describe here a novel unbalanced translocation der(13)t(7;13)(p13;q14) involving 13q14 in a patient with MDS. A 66-year-old woman was diagnosed as having MDS, refractory anemia with excess of blasts (RAEB-1) because of 7.4% blasts and trilineage dysplasia in the bone marrow cells. G-banding and spectral karyotyping analyses showed complex karyotypes as follows: 46,XX,der(6)t(6;7)(q11;?),der(7)del(7)(?p13)t(6;7)(q?;q11)t(6;13)(q?;q?),der(13)t(7;13)(p13;q14). Fluorescence in situ hybridization (FISH) analyses demonstrated that one allele of the RB1 gene and the microsatellite locus D13S319, located at 13q14 and telomeric to the RB1 gene, was deleted. Considering other reported cases, our results indicate that submicroscopic deletions accompanying 13q14 translocations are recurrent cytogenetic aberrations in MDS. The RB1 gene or another tumor suppressor gene in the vicinity of D13S319, or both, may be involved in the pathogenesis of MDS with 13q14 translocations by monoallelic deletion.