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Gudrun Göhring,
Kyra Michalova,
H Berna Beverloo,
David Betts,
Jochen Harbott,
Oskar A Haas,
Gitte Kerndrup, Laura Sainati,
Eva Bergstraesser,
Henrik Hasle, [......],
Monika Trebo,
Marry M van den Heuvel-Eibrink,
Marco Zecca,
Elisabeth R van Wering,
Alexandra Fischer,
Peter Noellke,
Brigitte Strahm,
Franco Locatelli,
Charlotte M Niemeyer,
Brigitte Schlegelberger
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Pediatric Blood & Cancer 08/2012; 59(7):1334-5. · 1.89 Impact Factor
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ABSTRACT: OBJECTIVES:: Pain is the most common reason for admission to the Emergency Department (ED) in patients with sickle cell disease (SCD). It can be associated with severe complications and impairs quality of life. Pain management in the ED should be well-defined and aggressive. The objective of this study was to evaluate pain management in the pediatric ED of a country recently facing SCD and to identify priority areas of intervention. METHODS:: The charts of SCD children who had accessed the ED from January 2003 to December 2010 were retrospectively reviewed. Pain management was compared before and after 2008. During 2008, educational events on SCD-pain management involved the ED personnel. RESULTS:: Twenty-three/28 patients (82%) accessed the ED for/with pain, of a total of 96/185 accesses for/with pain. Mean age was 5.9 years (range, 8 mo to 17.9 y). Fifty-four percent of the episodes resulted in hospital admissions, with a mean length of stay of 6.2 days. Pain was scored in 30% of the episodes; analgesics were administered in 50%. After the educational interventions, high score at triage was assigned more frequently (72% vs. 40%), waiting time for analgesics administration reduced (64 vs. 87 min), and use of Visual Analogue Scale increased (50% vs. 8%). DISCUSSION:: Pain represents the main reason for admission to the ED in children with SCD even in countries recently facing SCD. Educational interventions obtained significant but still limited improvement in pain management. The diffusion of national guidelines with defined pain evaluation and treatment protocols represents a priority to further ameliorate care of SCD children.
The Clinical journal of pain 06/2012; · 3.01 Impact Factor
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ABSTRACT: Comprehensive care and advances in clinical investigations have reduced morbidity and mortality in sickle cell disease (SCD), but only a minority of children with SCD has access to comprehensive care. In Europe the majority of patients with SCD are immigrants who present barriers in accessing the health system; therefore, new evidence-based models of comprehensive care are needed to ensure that all SCD patients receive high-quality care, overcoming patient- and health system-related barriers. We wanted to verify if addressing the specific needs of immigrant patients contributes to improving adherence.
Linguistic, cultural, social issues were considered in organizing comprehensive care in 2006. Hospital's records were used to determine access from 2006 to 2010 and to compare adherence before and after 2006.
Ninety-four patients with SCD were enrolled in comprehensive care; 94% were first generation immigrants (81% African). Age at diagnosis was higher for children born abroad vs. children born in Italy (66.08 vs 25.36 months, P < 0.005). Since 2006, children were seen at least once a year, with 100% adherence to follow-up appointments. Coverage increased from 26% to 97% for flu vaccination, from 80% to 92% for pneumococcus immunization, from 27% to 100% for Transcranial Doppler (TCD) screening (P < 0.001). Emergency Department access/patient/year and inpatient admissions/patient/year decreased from 2.3 to 0.98 and from 0.30 to 0.25, respectively (P < 0.001).
Comprehensive care can be delivered to vulnerable groups obtaining high adherence if linguistic, cultural, social issues are addressed. This model may merit assessment in other communities where immigrants represent the majority of patients. Pediatr Blood Cancer 2012; 59: 1275-1279. © 2012 Wiley Periodicals, Inc.
Pediatric Blood & Cancer 02/2012; 59(7):1275-9. · 1.89 Impact Factor
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ABSTRACT: The quality of life of children with cancer can be affected by the experience of cancer-related pain, treatment-related pain, procedural pain, generalized pain, and long-term chronic pain, and the consequences may be permanent. Treatment-related pain and procedural pain are often reportedly the most painful experiences relating to their illness. Procedural pain treatment is therefore now considered essential. This multicenter survey investigated how procedural pain is managed at Italian Pediatric Hematology-Oncology Centers.
From April to October 2010, questionnaires were collected from the directors and/or referent of the Italian Centers of Pediatric Hematology-Oncology about the management of lumbar punctures, bone marrow aspirates, and biopsies.
We received responses from 67% of the centers (which performed a total of 13,271 procedures per year). Fifty percent of the procedures were performed in the operating room. The sedation-analgesia was provided "almost always" for 84% of procedures. Non-pharmacological treatments were used in 55% of the centers. The specialist who practiced analgesia was the anesthetist in 83.3% of the cases.
A nationwide multicentre survey has been conducted for the first time to verify the management of procedural pain in Pediatric Hematology-Oncology patients. The results indicate that many aspects in the management of procedural pain appear consistent with the international guidelines. Some problems still remain, including the inability to ensure adequate sedation-analgesia in all the patients--often due to the lack of adequate staff, the frequent use of the operating room, and an underdeveloped use of non-pharmacological therapies.
Supportive Care in Cancer 12/2011; 20(10):2407-14. · 2.09 Impact Factor
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ABSTRACT: Procedural pain is an important aspect of care in pediatrics, and particularly in pediatric oncology where children often consider this to be the most painful experience during their illness. Best recommended practice to control procedural pain includes both sedative-analgesic administration and non-pharmacological treatments, practiced in an adequate and pleasant setting by skilled staff. A nationwide survey has been conducted among the Italian Centers of Pediatric Hematology-Oncology to register operators' awareness on procedural pain, state of the art procedural pain management, operators' opinions about pain control in their center, and possible barriers impeding sedation-analgesia administration. Based on indications in the literature, we discuss the results of the survey to highlight critical issues and suggest future directions for improvement. Future objectives will be to overcome differences depending on size, improve operators' beliefs about the complexity of pain experience, and promote a global approach to procedural pain.
Pediatric reports 09/2011; 3(4):e34.
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ABSTRACT: Elevated Tricuspid Regurgitant Velocity (TRV) has been related to higher mortality in adults and to hemolysis, lower oxygen saturation during 6-minute walk test and acute chest syndrome (ACS) in children with sickle cell disease (SCD). Hydroxyurea (HU) has reduced TRV value in children and adults. We describe a three year old HbSS child with recurrent ACS, hypoperfusion of the left lung, mild hemolysis and persistent TRV elevation. TRV did not normalize after HU, despite improvement in clinical conditions and in baseline laboratory parameters related to hemolysis and blood viscosity, but normalized after bone marrow transplantation (BMT). Our experience suggests that in young patients, TRV reduction can be a positive concomitant effect of BMT.
Hematology reports. 08/2011; 3(2):e12.
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ABSTRACT: Beliefs of caregivers about patient's pain have been shown to influence assessment and treatment of children's pain, now considered an essential part of cancer treatment. Painful procedures in hematology-oncology are frequently referred by children as the most painful experiences during illness. Aim of this study was to evaluate professionals' beliefs about painfulness of invasive procedures repeatedly performed in Pediatric Hemato-Oncology Units.
Physicians, nurses, psychologists and directors working in Hemato-Oncology Units of the Italian Association of Pediatric Hematology-Oncology (AIEOP) were involved in a wide-nation survey. The survey was based on an anonymous questionnaire investigating beliefs of operators about painfulness of invasive procedures (lumbar puncture, bone marrow aspirate and bone marrow biopsy) and level of pain management.
Twenty-four directors, 120 physicians, 248 nurses and 22 psychologists responded to the questionnaire. The score assigned to the procedural pain on a 0-10 scale was higher than 5 in 77% of the operators for lumbar puncture, 97.5% for bone marrow aspiration, and 99.5% for bone marrow biopsy. The scores assigned by nurses differed statistically from those of the physicians and directors for the pain caused by lumbar puncture and bone marrow aspiration. Measures adopted for procedural pain control were generally considered good.
Invasive diagnostic-therapeutic procedures performed in Italian Pediatric Hemato-Oncology Units are considered painful by all the caregivers involved. Pain management is generally considered good. Aprioristically opinions about pain depend on invasiveness of the procedure and on the professional role.
Italian Journal of Pediatrics 06/2011; 37(1):27.
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Raffaella Colombatti,
Silverio Perrotta,
Nicoletta Masera,
Giovanni Palazzi,
Lucia Dora Notarangelo,
Anna Pusiol,
Elisa Bonetto,
Lucia De Zen,
Agostino Nocerino,
Piera Samperi,
Giovanna Russo-Mancuso, Laura Sainati
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ABSTRACT: During the recent H1N1 pandemic, children with Sickle Cell Disease (SCD) experienced more hospitalizations and more complications than the general pediatric population. We performed a retrospective multicenter survey at 9 Pediatric Haematology-Oncology Units across Italy. H1N1 admission rate was 5.2%, with all admissions occurring before vaccine availability. Length Of Stay (LOS) was 6.06 days (7.85 for Acute Chest Syndrome), longer than in other countries. Vaccination coverage was not homogeneous, ranging from 0 to 99%; several family-related and health-system related barriers in accessing vaccinations were identified that should be ameliorated to improve coverage in this high risk group of children.
Vaccine 02/2011; 29(6):1126-8. · 3.77 Impact Factor
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Gudrun Göhring,
Kyra Michalova,
H Berna Beverloo,
David Betts,
Jochen Harbott,
Oskar A Haas,
Gitte Kerndrup, Laura Sainati,
Eva Bergstraesser,
Henrik Hasle, [......],
Monika Trebo,
Marry M van den Heuvel-Eibrink,
Marco Zecca,
Elisabeth R van Wering,
Alexandra Fischer,
Peter Noellke,
Brigitte Strahm,
Franco Locatelli,
Charlotte M Niemeyer,
Brigitte Schlegelberger
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ABSTRACT: To identify cytogenetic risk factors predicting outcome in children with advanced myelodysplastic syndrome, overall survival of 192 children prospectively enrolled in European Working Group of Myelodysplastic Syndrome in Childhood studies was evaluated with regard to karyotypic complexity. Structurally complex constitutes a new definition of complex karyotype characterized by more than or equal to 3 chromosomal aberrations, including at least one structural aberration. Five-year overall survival in patients with more than or equal to 3 clonal aberrations, which were not structurally complex, did not differ from that observed in patients with normal karyotype. Cox regression analysis revealed the presence of a monosomal and structurally complex karyotype to be strongly associated with poor prognosis (hazard ratio = 4.6, P < .01). Notably, a structurally complex karyotype without a monosomy was associated with a very short 2-year overall survival probability of only 14% (hazard ratio = 14.5; P < .01). The presence of a structurally complex karyotype was the strongest independent prognostic marker predicting poor outcome in children with advanced myelodysplastic syndrome.
Blood 11/2010; 116(19):3766-9. · 9.90 Impact Factor
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ABSTRACT: Despite the finding of elevated Tricuspid Regurgitant Velocity (TRV) in children below 5 years of age, the prevalence and evolution of Pulmonary Hypertension (PH) in young children with sickle cell disease (SCD) are unclear. In order to identify predictive factors of precocious PH development, SCD children > or =3 years old, at steady state, underwent annual echocardiography and Tissue Doppler Imaging (TDI). Patients receiving chronic transfusion were excluded. Thirty-seven of seventy-five patients were > or =3 years, with measurable TRV. In our young population (mean age 6.2 years) of mainly African, HbS/HbS patients, 8/37 (21.6%) had TRV > or =2.5 m/s, 8% being only 3 years old. Significant correlation was found between precocious TRV elevation and high platelet and reticulocyte counts and frequent acute chest syndromes (ACS). In multivariate analysis, ACS was the only variable predicting TRV > or =2.5 m/s. TDI of the 37 patients showed signs of diastolic dysfunction of the left ventricle. At follow-up all eight patients with high TRV displayed further increase and seven more developed TRV > or =2.5 m/s. PH seems to begin in children earlier than expected. Factors involved in its early onset might be different from the ones causing its development in older children or adults. African children might benefit from early screening and re-assessment once a year.
British Journal of Haematology 09/2010; 150(5):601-9. · 4.94 Impact Factor
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ABSTRACT: Anaplastic large cell lymphoma (ALCL) constitutes approximately 15% of pediatric and 3% of adult non-Hodgkin lymphomas. Most pediatric cases harbor the reciprocal translocation t(2;5)(p23;q35), involving the alk gene. Cytogenetic studies of ALCL have mostly been published as case-reports. The aim of this study was to determine the cytogenetic profiles of a series of pediatric ALCL and to compare them with pediatric and adult ALCL from the literature.
Eighteen children treated at our Institution were studied by standard cytogenetic analysis and RT-PCR for the specific t(2;5) translocation product. Comparative analysis was performed on our findings and on the karyotypes of 48 pediatric and 39 adult ALCL reported in the literature.
Karyotype was obtained in 16/18 ALCL: 9 showed translocation t(2;5) and 1 an alk variant form. Structural and numeric chromosomal abnormalities were identified in both pediatric and adult series. Trisomies were found preferentially in pediatric patients (P = 0.013) and monosomies in adults (P = 0.038). Trisomy 7 was found in 22% (13/59) of pediatric cases with abnormal karyotype and only in 5% (2/38) of adults; monosomy of chromosome 13 in 13% (5/38) of adults and only in 2% (1/59) of pediatric patients and monosomy of chromosome 15 in 16% (6/38) of adults and in none of the pediatric ALCL.
Our data suggest that pediatric and adult ALCL are characterized by different numerical chromosomal abnormalities. Larger prospective studies may elucidate their potential prognostic impact.
Pediatric Blood & Cancer 09/2010; 55(3):446-51. · 1.89 Impact Factor
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Silvia Bresolin,
Marco Zecca,
Christian Flotho,
Luca Trentin,
Andrea Zangrando, Laura Sainati,
Jan Stary,
Barbara de Moerloose,
Henrik Hasle,
Charlotte M Niemeyer,
Geertruy Te Kronnie,
Franco Locatelli,
Giuseppe Basso
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ABSTRACT: PURPOSE Juvenile myelomonocytic leukemia (JMML) is a rare early childhood myelodysplastic/myeloproliferative disorder characterized by an aggressive clinical course. Age and hemoglobin F percentage at diagnosis have been reported to predict both survival and outcome after hematopoietic stem cell transplantation (HSCT). However, no genetic markers with prognostic relevance have been identified so far. We applied gene expression-based classification to JMML samples in order to identify prognostic categories related to clinical outcome. PATIENTS AND METHODS Samples of 44 patients with JMML were available for microarray gene expression analysis. A diagnostic classification (DC) model developed for leukemia and myelodysplastic syndrome classification was used to classify the specimens and identify prognostically relevant categories. Statistical analysis was performed to determine the prognostic value of the classification and the genes identifying prognostic categories were further analyzed through R software. RESULTS The samples could be divided into two major groups: 20 specimens were classified as acute myeloid leukemia (AML) -like and 20 samples as nonAML-like. Four patients could not be assigned to a unique class. The 10-year probability of survival after diagnosis of AML-like and nonAML-like patients was significantly different (7% v 74%; P = .0005). Similarly, the 10-year event-free survival after HSCT was 6% for AML-like and 63% for nonAML-like patients (P = .0010). CONCLUSION Gene expression-based classification identifies two groups of patients with JMML with distinct prognosis outperforming all known clinical parameters in terms of prognostic relevance. Gene expression-based classification could thus be prospectively used to guide clinical/therapeutic decisions.
Journal of Clinical Oncology 03/2010; 28(11):1919-27. · 18.37 Impact Factor
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ABSTRACT: Stroke is a serious complication of sickle cell disease (SCD) in children. Transcranic Doppler (TCD) is a well-established predictor of future cerebrovascular symptoms: a blood flow velocity >200 cm/sec in the Middle Cerebral Artery (MCA) correlates with a high risk of stroke in cohorts of African-american HbS/HbS patients. In North-East Italy the recent increase in SCD patients is mainly due to immigration from Africa. A comprehensive care program for children with SCD was established in our Center since 2004, but a wide and routine screening for Primary stroke prevention needs to be developed.
In order to verify the feasibility of TCD and Transcranial color coded Sonography (TCCS) screening in our setting and the applicability of international reference values of blood velocities to our population of African immigrants with HbS/HbS SCD, we performed TCD and TCCD in 12 HbS/HbS African children and two groups of age-matched controls of Caucasian and African origin respectively. TCD and TCCS were performed on the same day of the scheduled routine hematologic visit after parental education.
All parents accepted to perform the sonography to their children. TCD and TCCD were performed in all patients and an adequate temporal window could be obtained in all of them. Pulsatility index and depth values in both the MCA and the Basilar Artery (BA) were similar at TCD and TCCS evaluation in the three groups while time-average maximum velocities (TAMM), peak systolic velocity and diastolic velocity in the MCA and BA were higher in the patients' group on both TCD and TCCS evaluation. African and Caucasian healthy controls had similar lower values.
Our preliminary data set the base to further evaluate the implementation of a primary stroke prevention program in our setting of HbS/HbS African immigrants and HbS/beta thalassemia Italians. Parental education-preferably in the native language- on stroke risk and prevention in SCD increases compliance and should be a necessary part of the program. Ethnic background does not seem to influence TCD velocity and internationally accepted reference values already validated in African-American SCD pediatric patients can be used, but long prospective trials are needed to verify their efficacy in defining stroke risk in our setting.
Italian Journal of Pediatrics 06/2009; 35:15.
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Emanuela Maserati,
Barbara Pressato,
Roberto Valli,
Antonella Minelli, Laura Sainati,
Francesco Patitucci,
Cristina Marletta,
Angela Mastronuzzi,
Furio Poli,
Francesco Lo Curto,
Franco Locatelli,
Cesare Danesino,
Francesco Pasquali
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ABSTRACT: An investigation of 22 new patients with Shwachman-Diamond syndrome (SDS) and the follow-up of 14 previously reported cases showed that (i) clonal chromosome changes of chromosomes 7 and 20 were present in the bone marrow (BM) of 16 out of 36 cases, but if non-clonal changes were taken into account, the frequency of anomalies affecting these chromosomes was 20/36: a specific SDS karyotype instability was thus confirmed; (ii) the recurrent isochromosome i(7)(q10) did not include short arm material, whereas it retained two arrays of D7Z1 alphoid sequences; (iii) the deletion del(20)(q11) involved the minimal region of deletion typical of myelodysplastic syndromes (MDS) and acute myeloid leukaemia (AML); (iv) only one patient developed MDS, during the rapid expansion of a BM clone with a chromosome 7 carrying additional material on the short arms; (v) the acquisition of BM clonal chromosome anomalies was age-related. We conclude that karyotype instability is part of the natural history of SDS through a specific mutator effect, linked to lacking SBDS protein, with consequent clonal anomalies of chromosomes 7 and 20 in BM, which may eventually promote MDS/AML with the patients' ageing.
British Journal of Haematology 03/2009; 145(2):190-7. · 4.94 Impact Factor
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Marinella Veltroni, Laura Sainati,
Marco Zecca,
Susanna Fenu,
Gloria Tridello,
Anna Maria Testi,
Alessandra Di Cesare Merlone,
Barbara Buldini,
Anna Leszl,
Luca Lo Nigro,
Daniela Longoni,
Gabriella Bernini,
Giuseppe Basso
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ABSTRACT: The diagnosis of myelodysplastic syndromes (MDS) is mainly based on morphology and cytogenetic analysis. Several efforts to analyze MDS by flow cytometry have been reported in adults. These studies have focused on the identification of abnormalities in the maturation pathway of antigen expression of myelo-monocytic cells, and characterization of blast populations. Therefore, phenotype has been proposed as a diagnostic and prognostic criterion tool for adult MDS. The current article provides data concerning the blast phenotype in pediatric MDS.
We evaluated by multiparameter flow cytometry 26 MDS pediatric patients with more than 2% of blast cells at bone marrow morphological examination (17 de novo MDS and 9 secondary MDS) and 145 pediatric de novo acute myeloid leukemia (AML) cases (M3 excluded). As control group, 12 healthy age-matched donors for allogenic bone marrow transplantation (BMD) and 6 regenerating bone marrow samples, collected from children with acute lymphoblastic leukemia (ALL) in remission after induction chemotherapy, were studied.
We identified a blast immunophenotype typically expressed in most MDS cases and a strong correlation between CD7 expression and poor outcome. CD34+ compartment in MDS bone marrow was also analyzed: a significant decrease of B-cell precursors was detected in MDS patients independent of age.
Our data suggest that the blasts phenotypic features can constitute a diagnostic and prognostic tool also for pediatric MDS.
Pediatric Blood & Cancer 01/2009; 52(3):357-63. · 1.89 Impact Factor
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ABSTRACT: We report four cases of leukemia (three chronic myeloid and one T-cell acute lymphoblastic) presenting with priapism in children 9- to 13-year old. All of them presented with hyperleukocytosis, and three had anemia plus thrombocytosis. All patients underwent chemotherapy and two had leukopheresis. In all cases, priapism was managed conservatively. Erection required up to 13 days to start improving but none of the patients developed clinical evidence of long-term erectile dysfunction. Based on these cases, conservative management of priapism in children with leukemia might be adequate and not lead to long-term erectile dysfunction.
Pediatric Blood & Cancer 10/2008; 51(3):420-3. · 1.89 Impact Factor
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ABSTRACT: Sickle cell disease (SCD) has become a paradigm of immigration hematology in Europe. Accurate up-to date information is needed to determine SCD prevalence, define real burden of disease and develop appropriate clinical networks of care, especially in regions lacking screening programs. We used two independent sources of data (Regional Register of Rare Disorders and Regional Register of Hospital Discharge Records) to determine extent of SCD and pattern of hospitalization of pediatric patients in the Veneto Region of NorthEast Italy. A steady increase of case notifications and hospitalizations has been observed in the past five years. Ninety-five percent of patients are immigrants with HbS/HbS SCD. Specialized regional registers can be used to define disease extent and guide targeted interventions in regions still lacking comprehensive care screening programs.
Haematologica 04/2008; 93(3):463-4. · 6.42 Impact Factor
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ABSTRACT: Recent reports have suggested that Helicobacter pylori infection may be a causative agent of adult chronic idiopathic thrombocytopenic purpura (cITP) and antimicrobial treatment may increase platelet counts. As there is limited experience in pediatric age, we investigated the prevalence of H. pylori infection and the effects of H. pylori eradication therapy in a series of children with cITP. Twenty-four children with cITP were investigated for H. pylori infection using the C-urea breath test or H. pylori fecal antigen. In cases of H. pylori infection, antimicrobial treatment was given with amoxicillin, clarithromycin, and proton pump inhibitors. Response was assessed at 6 months and defined as complete (platelet count >150x10/L) or partial (platelet count between 50 and 150x10/L). H. pylori infection was found in 8 patients (33%) and 3 of them showed a response after eradication therapy, but 2 of them relapsed later on. Two patients had a spontaneous increase in platelet count in the group of H. pylori-negative patients. Given that spontaneous improvements in platelet count can occur in children with cITP, we were unable to demonstrate that H. pylori plays a major role in cITP occurring in pediatric age.
Journal of Pediatric Hematology/Oncology 01/2008; 30(1):53-7. · 1.16 Impact Factor
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Emanuela Maserati,
Antonella Minelli,
Barbara Pressato,
Roberto Valli,
Barbara Crescenzi,
Maurizio Stefanelli,
Giuseppe Menna, Laura Sainati,
Furio Poli,
Claudio Panarello,
Marco Zecca,
Francesco Lo Curto,
Cristina Mecucci,
Cesare Danesino,
Francesco Pasquali
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ABSTRACT: An investigation of 14 patients with Shwachman syndrome (SS), using standard and molecular cytogenetic methods and molecular genetic techniques, showed that (1) the i(7)(q10) is not, or not always, an isochromosome but may arise from a more complex mechanism, retaining part of the short arm; (2) the i(7)(q10) has no preferential parental origin; (3) clonal chromosome changes, such as chromosome 7 anomalies and del(20)(q11), may be present in the bone marrow (BM) for a long time without progressing to myelodysplastic syndrome (MDS)/acute myeloid leukemia (AML); (4) the del(20)(q11) involves the minimal region of deletion typical of MDS/AML; (5) the rate of chromosome breaks is not significantly higher than in controls, from which it is concluded that SS should not be considered a breakage syndrome; (6) a specific kind of karyotype instability is present in SS, with chromosome changes possibly found in single cells or small clones, often affecting chromosomes 7 and 20, in the BM. Hence, we have confirmed our previous hypothesis that the SS mutation itself implies a mutator effect that is responsible for MDS/AML through these specific chromosome anomalies. This conclusion supports the practice of including cytogenetic monitoring in the follow-up of SS patients.
Genes Chromosomes and Cancer 05/2006; 45(4):375-82. · 3.31 Impact Factor
