Document Detail


Familial chronic myeloproliferative disorders: clinical phenotype and evidence of disease anticipation.
MedLine Citation:
PMID:  17998545     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
PURPOSE: Chronic myeloproliferative disorders (CMDs) have sporadic occurrence. However, familial clustering is reported. The purpose of this study was to assess the prevalence and the clinical phenotype of familial CMDs, and to study the anticipation of disease onset in successive generations.
PATIENTS AND METHODS: Among 458 patients with apparently sporadic CMDs, an interview-based investigation of family history was performed to identify familial cases. The clinical phenotype of familial CMDs was compared with that of sporadic CMDs. Anticipation was studied evaluating age at diagnosis and telomere length in successive generations.
RESULTS: Among 458 patients with apparently sporadic CMDs, the prevalence of familial cases was 7.6% (35 pedigrees; 75 patients). Kolmogorov-Smirnov and two-tailed Fisher's exact tests did not demonstrate significant differences in clinical presentation between patients with familial and sporadic CMDs. Within 544 person-years of follow-up, patients with familial CMDs developed similar complications and disease evolutions as those with sporadic CMDs. The comparison of second-generation and first-generation patients showed a significantly younger age at diagnosis (Wilcoxon matched-pair test, P = .001) and a significantly higher age-dependent hazard of CMD onset (Nelson-Aalen method, P < .001) in patients of the second generation. A significant shortening of telomere length was highlighted in offspring compared with parent (P = .043).
CONCLUSION: This study indicates that a thorough investigation of family history should be part of the initial work-up of patients with CMDs. Patients with familial CMDs show the same clinical features and suffer the same complications as patients with sporadic disease. Age distribution between parent and offspring and telomere length shortening provide evidence of disease anticipation.
Authors:
Elisa Rumi; Francesco Passamonti; Matteo G Della Porta; Chiara Elena; Luca Arcaini; Laura Vanelli; Cecilia Del Curto; Daniela Pietra; Emanuela Boveri; Cristiana Pascutto; Mario Cazzola; Mario Lazzarino
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2007-11-12
Journal Detail:
Title:  Journal of clinical oncology : official journal of the American Society of Clinical Oncology     Volume:  25     ISSN:  1527-7755     ISO Abbreviation:  J. Clin. Oncol.     Publication Date:  2007 Dec 
Date Detail:
Created Date:  2007-12-10     Completed Date:  2007-12-19     Revised Date:  2012-06-05    
Medline Journal Info:
Nlm Unique ID:  8309333     Medline TA:  J Clin Oncol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  5630-5     Citation Subset:  IM    
Affiliation:
Department of Hematology, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo Viale Golgi 49, 27100 Pavia, Italy. elisarumi@hotmail.com
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MeSH Terms
Descriptor/Qualifier:
Anticipation, Genetic
Chronic Disease
Female
Follow-Up Studies
Humans
Janus Kinase 2 / genetics
Male
Mutation
Myeloproliferative Disorders / diagnosis*,  genetics*,  mortality
Pedigree
Phenotype
Survival Rate
Chemical
Reg. No./Substance:
EC 2.7.10.1/Janus Kinase 2; EC 2.7.10.2/JAK2 protein, human

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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