T-cell prolymphocytic leukemia with der(11)t(1;11)(q21;q23) and ATM deficiency

Yamaguchi, Mitsuko; Yamamoto, Koh; Miki, Tohru; Mizutani, Shuki; Miura, Osamu

doi:10.1016/s0165-4608(03)00104-3

Cited by 22 publications

(12 citation statements)

References 19 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Complex karyotypes with structural abnormalities [1-8,10-13] including 14q11.2 rearrangements as seen in our cases is observed in 80% of T-PLL cases. These abnormalities include inv(14)(q11.2q32) or the t(14;14)(q11;q32) [3].…”

Section: Discussionsupporting

confidence: 67%

See 1 more Smart Citation

“T-cell prolymphocytic leukemia (T-PLL), a heterogeneous disease exemplified by two cases and the important role of cytogenetics: a multidisciplinary approach”

Tirado

Starshak

Delgado³

et al. 2012

Exp Hematol Oncol

View full text Add to dashboard Cite

T-cell prolymphocytic leukemia (T-PLL) is a rare form of leukemia composed of mature T-cells that usually presents in older people with a median age of 65. Most cases of T-PLL will harbor chromosomal abnormalities involving 14q11.2 (TCR alpha/delta), 14q32 (TCL1) or Xq28 (MTCP-1), abnormalities of chromosome 8, 12p and deletions of the long arm of chromosomes 5, 6, 11 and 13. Cytogenetics, FISH, comparative genomic hybridization (CGH) , SNP arrays with high resolution analysis have provided more precisely frequent submicroscopic gene and genomic lesions as well as breakpoints involved in the pathogenesis of this disease. One of the cornerstones to diagnose T-PLL are cytogenetic analysis. Here we summarize the current cytogenetic findings and we also describe two distinct cases of T-PLL where cytogenetics, FISH , morphologic analysis and flow cytometry helped to diagnose them accurately.

show abstract

Section: Discussionsupporting

confidence: 67%

“…Other findings in T-PLL that may be overlooked by conventional cytogenetics are anomalies of 11q [13] like in case 1 and abnormalities of chromosome 22 like in case 2. Both abnormalities were also confirmed by CGH [10] and SNP-array studies [3].…”

Section: Discussionmentioning

confidence: 99%

“T-cell prolymphocytic leukemia (T-PLL), a heterogeneous disease exemplified by two cases and the important role of cytogenetics: a multidisciplinary approach”

Tirado

Starshak

Delgado³

et al. 2012

Exp Hematol Oncol

View full text Add to dashboard Cite

show abstract

“…The frequency of 14q32 abnormalities on conventional cytogenetic analysis ranged from 25 to 76.6% in cases with T-PLL [1][2][3]. A total of 30 T-PLL cases, including 11 in the present study, have been reported in Japan [21,[26][27][28][29][30][31][32][33][34]; however, the frequency of typical chromosomal abnormalities involving 14q32 and Xq28 is low (3.3%) according to conventional methods. These data confirm a previous report [21].…”

Section: Discussionmentioning

confidence: 82%

TCL1A gene involvement in T-cell prolymphocytic leukemia in Japanese patients

et al. 2011

View full text Add to dashboard Cite

T-cell prolymphocytic leukemia (T-PLL) is a rare type of peripheral T-cell leukemia. In this study, we examined the clinical and biological characteristics of 11 Japanese patients with T-PLL. Median age was 74 years, with male predominance. Median lymphocyte frequency was 85.3% in blood. Physical characteristics were splenomegaly (36.4%), tiny lymph adenopathy (63.6%), skin lesion (9.1%) and pleural effusion (27.3%). Median survival was 30.1 months, despite treatment with various chemotherapeutic modalities. Although complex chromosomal abnormalities were observed in 5 of 11 cases (45.5%), typical 14q32 and Xq28 abnormalities were not detected. TCL1A mRNA expression was observed in 6 of 11 cases (54.5%) on real-time quantitative PCR. In 5 of these 6 cases, flow cytometric analysis and/or immunohistochemistry confirmed the expression of TCLA1 protein. Split signals for the TCL1 region on fluorescence in situ hybridization confirmed rearrangement in 3 out of 7 cases evaluated. These cases corresponded to cases that were positive for TCL1A expression, suggesting that rearrangement of the TCL1 region induced high expression of TCL1A gene. In summary, a substantial number of T-PLL cases in Japan had abnormal expression of TCL1A, probably due to rearrangement of TCL1 region. Expression and/or rearrangement of TCL1A may, therefore, be a useful marker for diagnosing T-PLL, regardless of chromosomal abnormalities.

show abstract

“…The ATM protein is composed of 3056 amino acids encoded by a 9168-bp open reading frame [6].The ATM gene mutation is not limited to A-T patients, and the ATM gene is mutated secondarily in various hematological malignancies, which lead to the speculation that ATM plays a role as a tumor suppressor gene [12]. The ATM protein encodes phosphoinositide 3-kinase-related kinase.…”

Section: Atm Protein and Its Functionmentioning

confidence: 99%

XCIND as a genetic disease of X-irradiation hypersensitivity and cancer susceptibility

Mizutani

Takagi

2012

Int J Hematol

View full text Add to dashboard Cite

The XCIND syndrome is named after distinct hypersensitivity to ionizing (X-ray) irradiation, cancer susceptibility, immunodeficiency, neurological abnormality, and double-strand DNA breakage. The disorders comprising XCIND syndrome are usually inherited in an autosomal recessive manner. Ataxia telangiectasia (A-T) is one such disease, and is caused by biallelic germline mutation of the Ataxia telangiectasia mutated (ATM) gene. Heterozygous carriers of the ATM mutation, who do not show A-T-like clinical symptoms, are estimated to comprise 1 % of the population. Thus, understanding the biological basis of XCIND, including A-T, should help shed light on the pathogenesis of genetic diseases with cancer susceptibility.

show abstract

T-cell prolymphocytic leukemia with der(11)t(1;11)(q21;q23) and ATM deficiency

Cited by 22 publications

References 19 publications

“T-cell prolymphocytic leukemia (T-PLL), a heterogeneous disease exemplified by two cases and the important role of cytogenetics: a multidisciplinary approach”

“T-cell prolymphocytic leukemia (T-PLL), a heterogeneous disease exemplified by two cases and the important role of cytogenetics: a multidisciplinary approach”

TCL1A gene involvement in T-cell prolymphocytic leukemia in Japanese patients

XCIND as a genetic disease of X-irradiation hypersensitivity and cancer susceptibility

Contact Info

Product

Resources

About