Chronic lymphocytic leukaemia at a county hospital in southern Sweden

Hjalmar, Viktoria; Carlsson, Magnus; Kimby, Eva

doi:10.1007/bf02993859

“…The average age at onset in all 27 of the families that we studied is 54.9 years for probands only and 59.6 years for all affecteds. The average age at onset of CLL has been reported to be ∼70 in some population-based samples (Travis et al 1992;Hjalmar et al 1996) but ∼62-65 in other studies (Radovanic et al 1994;Rozman et al 1997). Thus, probands from the multiplex families that we studied have a somewhat decreased age at onset, compared with that in cases from the population.…”

Section: Figurementioning

confidence: 53%

No Evidence of Linkage for Chromosome 1q42.2-43 in Prostate Cancer

Whittemore

¹

,

Lin

²

,

Oakley-Girvan

³

et al. 1999

The American Journal of Human Genetics

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Mutations of UFD1L Are Not Responsible for the Majority of Cases of DiGeorge Syndrome/ Velocardiofacial Syndrome without Deletions within Chromosome 22q11 To the Editor: Deletions of chromosome 22q11 are associated with a wide spectrum of congenital malformation, encompassed by the acronym "CATCH22" (cardiac defects, abnormal facies, thymic hypoplasia, cleft palate, and hypocalcemia on chromosome 22), including velocardiofacial syndrome (VCFS; MIM 192430), DiGeorge syndrome (DGS; MIM 188400), and conotruncal-anomaly face (Emanuel et al. 1998). The major anomalies include outflow-tract congenital heart defects, hypoplasia of the parathyroids and thymus, craniofacial dysmorphism, and learning/behavioral problems (Ryan et al. 1997). Many of these are thought to be due to a defective neural-crest contribution during development. The DiGeorge chromosomal region (DGCR) is entirely cloned (Carlson et al. 1997) and sequenced, and several genes have been reported mapping to the region. Mutation screens of genes mapping to the proximal end of this region, termed the "minimal DiGeorge chromosomal region" (MDGCR; Gong et al. 1996), have been negative (Wadey et al. 1995; Gong et al. 1997; Gottlieb et al. 1997; Lindsay et al. 1998). Attention therefore has turned to the regions adjacent and distal to the MDGCR. Recently, the gene UFD1L was proposed as the major gene haploinsufficient in this group of syndromes (Yamagishi et al. 1999). UFD1L is downstream of dHAND, a gene known to be involved in control of the development of structures affected in DGS, and Ufd1l is expressed in the branchial arches, frontonasal mass, and outflow tract. In addition, a single patient has been reported with a de novo deletion affecting UFD1L and the neighboring gene, CDC45L2 (Yamagishi et al. 1999). CDC45 is required for initiation of DNA replication in yeast, and CDC45 mutants are nonviable. However, CDC45L2 expression is not altered in d-HAND Ϫ/Ϫ embryos. On the basis of these findings, Yamagishi and colleagues concluded that UFD1L hap-conditions can be obtained at the e-mail addresses that follow:

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“…4 The median age at diagnosis is approximately 70 years, and nearly 75% of patients are age !60 years. 5 Current trends suggest that the number of older adults with these malignancies will increase as the population ages 6 and as diagnostic tests are used more widely. 7 In recent years, the development of chemotherapy regimens incorporating the purine analogue fludarabine has altered significantly the therapeutic options available to these patients.…”

mentioning

confidence: 99%

The influence of increasing age on the deliverability and toxicity of fludarabine‐based combination chemotherapy regimens in patients with indolent lymphoproliferative disorders

Polizzotto

¹

,

Tam

²

,

Milner

³

et al. 2006

Cancer

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BACKGROUND.Fludarabine‐based combination chemotherapy regimens are highly effective in the treatment of patients with indolent lymphoproliferative disorders. Despite the prevalence of such disorders in older patients, the effect of increasing age on the deliverability of these regimes has not been assessed.METHODS.The authors analyzed the effect of increasing age on the deliverability and toxicity of 3 fludarabine‐based regimens, all using fludarabine 25 mg/m2 per day for 3 days intravenously every 28 days, in 180 patients who were stratified into 2 age groups (age <60 years and age ≥60 years), with multivariate analysis to control for other differences between groups. The authors also explored the impact of age ≥70 years within the older cohort.RESULTS.Older patients were more likely to experience an episode of nonsevere hematologic or infectious toxicity, but there was no difference in the rate of severe toxicity. Toxicity rates per cycle did not differ between age groups. The rates of neutropenia (absolute neutrophil count [ANC], <1.0 × 109/L) and severe neutropenia (ANC, 0.5 × 109/L) were 22% and 13%, respectively, in older patients versus 20% and 11%, respectively, in younger patients (P>.1 for both). The rates of thrombocytopenia (platelet count, <100 × 109/L) and severe thrombocytopenia (platelet count, <50 × 109/L) were 21% and 5%, respectively, in older patients and 16% and 5%, respectively, in younger patients (each P value >.1). The rate of infection was 18% per cycle in older patients and 15% per cycle in younger patients (P = .2), with no difference noted in severity. Other organ toxicities were uncommon and showed no difference between age groups. The treatment‐related mortality rate was <1% in both cohorts (P>.5). In multivariate analysis, increasing age and performance status influenced the incidence of hematologic toxicity, whereas only performance status influenced the rate of infection and severe infection.CONCLUSIONS.Fludarabine‐based combination chemotherapy regimens were well tolerated and can be delivered safely to older patients who have a good performance status with modestly increased myelosuppression but no increase in severe infectious complications or treatment‐related mortality. Cancer 2006. © 2006 American Cancer Society.

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Highly Skewed X-Chromosome Inactivation Is Associated with Idiopathic Recurrent Spontaneous Abortion

Lanasa

¹

,

Hogge

²

,

Kubik

³

et al. 1999

The American Journal of Human Genetics

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Mutations of UFD1L Are Not Responsible for the Majority of Cases of DiGeorge Syndrome/ Velocardiofacial Syndrome without Deletions within Chromosome 22q11 To the Editor: Deletions of chromosome 22q11 are associated with a wide spectrum of congenital malformation, encompassed by the acronym "CATCH22" (cardiac defects, abnormal facies, thymic hypoplasia, cleft palate, and hypocalcemia on chromosome 22), including velocardiofacial syndrome (VCFS; MIM 192430), DiGeorge syndrome (DGS; MIM 188400), and conotruncal-anomaly face (Emanuel et al. 1998). The major anomalies include outflow-tract congenital heart defects, hypoplasia of the parathyroids and thymus, craniofacial dysmorphism, and learning/behavioral problems (Ryan et al. 1997). Many of these are thought to be due to a defective neural-crest contribution during development. The DiGeorge chromosomal region (DGCR) is entirely cloned (Carlson et al. 1997) and sequenced, and several genes have been reported mapping to the region. Mutation screens of genes mapping to the proximal end of this region, termed the "minimal DiGeorge chromosomal region" (MDGCR; Gong et al. 1996), have been negative (Wadey et al. 1995; Gong et al. 1997; Gottlieb et al. 1997; Lindsay et al. 1998). Attention therefore has turned to the regions adjacent and distal to the MDGCR. Recently, the gene UFD1L was proposed as the major gene haploinsufficient in this group of syndromes (Yamagishi et al. 1999). UFD1L is downstream of dHAND, a gene known to be involved in control of the development of structures affected in DGS, and Ufd1l is expressed in the branchial arches, frontonasal mass, and outflow tract. In addition, a single patient has been reported with a de novo deletion affecting UFD1L and the neighboring gene, CDC45L2 (Yamagishi et al. 1999). CDC45 is required for initiation of DNA replication in yeast, and CDC45 mutants are nonviable. However, CDC45L2 expression is not altered in d-HAND Ϫ/Ϫ embryos. On the basis of these findings, Yamagishi and colleagues concluded that UFD1L hap-conditions can be obtained at the e-mail addresses that follow:

show abstract

Chronic lymphocytic leukaemia at a county hospital in southern Sweden

Cited by 4 publications

References 15 publications

No Evidence of Linkage for Chromosome 1q42.2-43 in Prostate Cancer

No Evidence of Linkage for Chromosome 1q42.2-43 in Prostate Cancer

The influence of increasing age on the deliverability and toxicity of fludarabine‐based combination chemotherapy regimens in patients with indolent lymphoproliferative disorders

Highly Skewed X-Chromosome Inactivation Is Associated with Idiopathic Recurrent Spontaneous Abortion

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