Loss of 17p is a major consequence of whole-arm chromosome translocations in hematologic malignancies

Adeyinka, Adewale; Wei, Sainan; Sanchez, Jessica

doi:10.1016/j.cancergencyto.2006.10.013

Cited by 31 publications

(33 citation statements)

References 11 publications

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“…Various types of whole-arm translocation have been reported to be recurrent anomalies. Of these, der(5;17)(p10;q10) is reported to be a recurrent but rare chromosomal aberration that is associated with hematological malignancies [2,3,4,5,6,7,8,9,10,11,12,13]. We identified 3 patients with myeloid malignancies that harbored the der(5;17)(p10;q10) translocation.…”

Section: Introductionmentioning

confidence: 89%

“…Among them, der(1;7)(q10;p10) is representative, and its clinicopathological features have been analyzed in detail [10]. Furthermore, about 10 whole-arm translocations have been reported to occur as sole aberrations in hematological malignancies [9]. However, in other cases, whole-arm translocations have been detected as part of complex karyotypes.…”

Section: Discussionmentioning

confidence: 99%

“…Among such cases, the loss of 17p is reported to be the most common form of short-arm loss and often occurs as part of complex karyotypes that are suggestive of disease progression [9]. To the best of our knowledge, only about 20 cases of hematological malignancies involving the der(5;17)(p10;q10) whole-arm translocation, which results in the loss of 5q and 17p, together with complex chromosomal abnormalities have been reported in the literature [2,3,4,5,6,7,8,9,10,11,12,13]. As for the role of whole-arm translocations in leukemogenesis, it has been suggested that the genomic imbalances caused by unbalanced whole-arm translocations are likely to have functional consequences.…”

Section: Discussionmentioning

confidence: 99%

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der(5;17)(p10;q10) Is a Recurrent But Rare Whole-Arm Translocation in Patients with Hematological Neoplasms: A Report of Three Cases

Manabe¹,

Okita²,

Tarakuwa³

et al. 2014

Acta Haematol

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We report the cases of 3 patients with hematological malignancies and complex karyotypes involving der(5;17)(p10;q10), which results in the loss of 5q and 17p. Although deletions of 5q and 17p are recurrent abnormalities in hematological disease, only about 20 cases harboring der(5;17)(p10;q10) have been reported. We address the tumorigenesis and morphological characteristics of hematological malignancies involving der(5;17)(p10;q10), along with a review of the literature.

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Section: Introductionmentioning

confidence: 89%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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der(5;17)(p10;q10) Is a Recurrent But Rare Whole-Arm Translocation in Patients with Hematological Neoplasms: A Report of Three Cases

Manabe¹,

Okita²,

Tarakuwa³

et al. 2014

Acta Haematol

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“…By acquisition of a normal chromosome 1 but not a chromosome 18, the der(1; 18) consistently resulted in trisomy 1q and monosomy 18p. Trisomy 1q is the most common chromosome gain by whole-arm translocations, as observed in +1,der(1; 7)(q10;p10), and may contribute to myeloid leukemogenesis by a gene dosage effect such as MLLT11 at 1q21 and ABL2 at 1q25 [Wan et al, 2001;Adeyinka et al, 2007]. Monosomy 18p seems to be a relatively rare event, and it may induce clonal proliferation through loss of tumor suppressor genes at 18p.…”

Section: Discussionmentioning

confidence: 99%

Mixed Phenotype Acute Leukemia with t(12;17)(p13;q21)/<b><i>TAF15-ZNF384</i></b> and Other Chromosome Abnormalities

Yamamoto¹,

Kawamoto²,

Mizutani³

et al. 2016

Cytogenet Genome Res

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The t(12;17)(p13;q11∼21) translocation is a very rare but recurrent cytogenetic aberration observed predominantly in early pre-B acute lymphoblastic leukemia (ALL) with CD19+CD10-CD33+ phenotype. This translocation was shown to form a fusion gene between TAF15 at 17q12 and ZNF384 at 12p13. On the other hand, der(1;18)(q10;q10) has been detected as a rare unbalanced whole-arm translocation leading to trisomy 1q in myeloid malignancies. We describe here the first case of mixed phenotype acute leukemia (MPAL) with a t(12;17)(p13;q21)/TAF15-ZNF384, which also had der(1;18)(q10;q10) as an additional abnormality. A 74-year-old woman was diagnosed with MPAL, B/myeloid, because bone marrow blasts were positive for myeloperoxidase, CD19, and CD22. Chromosome analysis showed 46,XX, +1,der(1;18)(q10;q10),t(2;16)(q13;q13),t(12;17)(p13;q21). Expression of the TAF15-ZNF384 fusion transcript was confirmed: TAF15 exon 6 was fused in-frame to ZNF384 exon 3. This type of fusion gene has been reported in 1 acute myeloid leukemia case and 3 ALL cases. Thus, at present, it is difficult to find a specific association between the structure of the TAF15-ZNF384 fusion gene and the leukemia phenotype. The TAF15-ZNF384 fusion may occur in early common progenitor cells that could differentiate into both the myeloid and lymphoid lineages. Furthermore, der(1;18)(q10;q10) might play some role in the appearance of an additional myeloid phenotype.

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“…A variety of chromosomal alterations can lead to loss of TP53, including deletions of the short arm of chromosome 17, del(17p), deletion of one entire chromosome 17, or balanced translocations involving the short arm of chromosome 17. In various lymphoid malignancies, del (17p) has been associated with disease progression and poor prognoses [4,5].…”

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confidence: 99%

Chromosome 17p deletion in a case of T‐cell acute lymphoblastic lymphoma

et al. 2014

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A 25-year-old, previously healthy female presented with pleuritic chest pain, dyspnea, and dry cough. Auscultation of the lungs demonstrated an absence of breath sounds on the left. Imaging with computed tomography (CT) and positron emission tomography (PET) modalities confirmed a large pleural effusion, but also revealed an anterior PET-avid mediastinal mass, measuring 11.2 cm by 6.0 cm, with a small pericardial effusion. There was also near-complete opacification of the left lung and a rightward mediastinal shift with displacement of adjacent structures.She was hospitalized and underwent placement of a left pleural chest tube. The pleural fluid was exudative and cellular, consisting of 12% atypical lymphoid cells expressing cytoplasmic CD3, CD7, CD34, but not surface CD3 or TdT. She then underwent a biopsy of a left internal mammary node, with pathological evaluation confirming a diagnosis of T-cell acute lymphoblastic lymphoma (Image 1A). Cytogenetic analysis revealed multiple abnormalities including a chromosome 17p deletion (Image 1B), which was confirmed by interphase fluorescence in situ hybridization (FISH) demonstrating p53 deletion in 88% of nuclei (Image 1C). An immunostain for p53 showed positive staining in approximately 2% of tumor Image 1. Pathologic and cytogenetic findings of mediastinal mass biopsy. The specimen is composed of a diffuse infiltrate of medium-sized atypical lymphoid cells with oval nuclei, dispersed chromatin, occasional small nucleoli, and scant cytoplasm (A, H&E, 31000). Frequent mitotic figures are seen (arrows). Cytogenetic abnormalities revealed multiple abnormalities with the dominant clone showing the following abnormal karyotype, including a deletion involving the short arm of chromosome 17 (B, arrow): 47,XX,14,114,del(17)(p1?3),220[cp7]. A separate related minor clone was also present: 89 91<4n>,idem,2X,2X,der(15)t(7;15)(q11.2;p11.2)32, 221 [cp3]. FISH analysis using a probe specific for the region containing TP53 on chromosome 17p confirmed TP53 loss in 44 of 50 interphase nuclei (C). An immunohistochemical stain for p53 revealed strong positive staining in approximately 2% of tumor cell nuclei (D, 3400).

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Loss of 17p is a major consequence of whole-arm chromosome translocations in hematologic malignancies

Cited by 31 publications

References 11 publications

der(5;17)(p10;q10) Is a Recurrent But Rare Whole-Arm Translocation in Patients with Hematological Neoplasms: A Report of Three Cases

der(5;17)(p10;q10) Is a Recurrent But Rare Whole-Arm Translocation in Patients with Hematological Neoplasms: A Report of Three Cases

Mixed Phenotype Acute Leukemia with t(12;17)(p13;q21)/<b><i>TAF15-ZNF384</i></b> and Other Chromosome Abnormalities

Chromosome 17p deletion in a case of T‐cell acute lymphoblastic lymphoma

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