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21 Association between myelodysplastic syndromes and inflammatory bowel diseases: report of 4 new cases and review of previously reported cases
S6
Epidemiology
and Classification
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21
INCIDENCE OF CANCER AND BODY IRON STORES IN SIDEROBLASTC ANEMIA. M.SiSkov&.L.Valterovb,V.Vozobulov&,J.Voglov&,I.Hochov&,R.Neuwirtov8.university Hospitals, Prague,Plzefi.Hradec KrBlovt, Czech Republic.
Association behveen my&dysplastic syndmmes and inflammatory bowel diseases: report of 4 new cases and review of previously reported cases E Watt&S i%iiii&gy
Mastnnl-Prevost, M Dwart, M Hebbar, JF Colombel, P Fenaux and Gastrcenterology deparhnenk, CHU, L~lle, France
Acquired sideroblastic anemia (RARS) differs from other subtypes of myelodysplastic syndrome (MDS): presence of ring sideroblasts.low incidence of chromosomal abnormalities,low percentage of transformation into acute leukemia.Considering that the sideroblastic anemia uses to be paraneoplastic manifestation, we investigated the incidence of cancer in RARS patients (pts) and compared it with pts with refractory anemia (RA).The patient s history was positive in 11 of 59 RARS pts (19%) in contrast to 9% from 55 RA pts. There was no significant difference in the incidence of malignancy preceeding diagnosis of MDS in both groups.But the differenck was observed in pts,where the diagnosis of malignity was stated after some months or years of MDS diagnosis (6 pts in RARS group and only 1 in RA group).Because of evidence that increased body iron stores are associated with increased risk of cancer,we examined some parameters of iron metabolism (Fe,ferritin,transferrin,transferrin receptor). In comparison with RA pts,values of ferritin and transferrin receptor were higher in pts with RARS in time of diagnosis.
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FAMILIAL MYELODYSPLASTIC SYNDROMES: A KEY TO UNDERSTANDING LEUKAEMOGENESIS? A&&!,$$, P.AntunovicZ,A.Pa81iuca’,GJMutii’ , ‘King’s College Hospital,London,UK;*Institute for Hematology,Belgrade,Yugoslavia.
HETEROGENEITY OF ACQUIRED IDIOPATHIC SlDEROBLASTIC ANEMIA @ISA): RESULTS OF A PROSPECTIVE FOLLOW-UP STUDY IN 189 PATIENTS C. Aul, U. Germ& G. Kobbe, A. Giagounidis, N. Gattermann, A. Heyll, Diisseldorf, Germany On cytomorphological grounds AISA can be divided into pure (dyserythropoietic) sideroblastic anemia (PSA) and a true myelodysplastic form (RARS) which is characterized by additional dysplastic features of non-erythroid cell lineages. Based on a retrospective analysis, we found that both types of sideroblastic anemia differed considerably in terms of survival and risk of AML transformation. To confirm these findings we performed a prospective study on 189 patients with newly diagnosed AISA seen in our clinic between June 1988 and October 1996. Distinction between PSA and RARS was carried out on initial bone marrow smears, and the patients were followed-up for disease progression until 31 December 1996. There were 69 patients with PSA and 120 patients with RARS. Median age at diagnosis was not different in both groups (71 vs 73 yrs). Concerning peripheral blood findings, patients with PSA presented with significantly higher neuaophil and platelet counts than patients with RARS (p
MDS occuring in close relatives are relatively uncommon; we report 5 kindreds in whom at least two membersof one generation acquired MDS; Out of 18 siblings from 5 kindreds, 11 had MDS (7 female and 4 male). In 2 kindreds, both parents of probands were affected: 1 with MDS, 2 with carcinoma of the lung and 1 with carcinoma of the uterus. MDS was diagnosedat the median age of 33 years (range 10-43 years).No constitutional abnormality was found in 4 kindreds, but in one 3 sisters had gonadal dysgenesis, and two of them also had MDS. One proband had exposure to chemicals; otherwise,occupational histories were unremarkable. Karyotype was normal in all affected membersof 3 kindreds; in two families, abnormal karyotype was detected in all patients: monosomy 7 in one family, and deletion 5 (q13:q33) in the other. Although reported kindreds are small,in 3 families the pattern of occurrence of MDS suggestsa single gene defect with recessive mode of inheritance,probably requiring a “second hit”,eg.del(Sq),in keeping with Knudson hypothesis. In 2 families a dominant pattern is apparent, the younger generation being affected at an earlier age; this may suggest compound genetic alterations, or coming into play of additional, possibly exogenous factors.Understanding the basis of familial MDS may lead to crucial advances in the study of carcinogenesis. We propose that an international registry for familial MDS be established,including DNA storage for molecular analysis.
Epidemiology
and Classification
20
21
INCIDENCE OF CANCER AND BODY IRON STORES IN SIDEROBLASTC ANEMIA. M.SiSkov&.L.Valterovb,V.Vozobulov&,J.Voglov&,I.Hochov&,R.Neuwirtov8.university Hospitals, Prague,Plzefi.Hradec KrBlovt, Czech Republic.
Association behveen my&dysplastic syndmmes and inflammatory bowel diseases: report of 4 new cases and review of previously reported cases E Watt&S i%iiii&gy
Mastnnl-Prevost, M Dwart, M Hebbar, JF Colombel, P Fenaux and Gastrcenterology deparhnenk, CHU, L~lle, France
Acquired sideroblastic anemia (RARS) differs from other subtypes of myelodysplastic syndrome (MDS): presence of ring sideroblasts.low incidence of chromosomal abnormalities,low percentage of transformation into acute leukemia.Considering that the sideroblastic anemia uses to be paraneoplastic manifestation, we investigated the incidence of cancer in RARS patients (pts) and compared it with pts with refractory anemia (RA).The patient s history was positive in 11 of 59 RARS pts (19%) in contrast to 9% from 55 RA pts. There was no significant difference in the incidence of malignancy preceeding diagnosis of MDS in both groups.But the differenck was observed in pts,where the diagnosis of malignity was stated after some months or years of MDS diagnosis (6 pts in RARS group and only 1 in RA group).Because of evidence that increased body iron stores are associated with increased risk of cancer,we examined some parameters of iron metabolism (Fe,ferritin,transferrin,transferrin receptor). In comparison with RA pts,values of ferritin and transferrin receptor were higher in pts with RARS in time of diagnosis.
22
23
FAMILIAL MYELODYSPLASTIC SYNDROMES: A KEY TO UNDERSTANDING LEUKAEMOGENESIS? A&&!,$$, P.AntunovicZ,A.Pa81iuca’,GJMutii’ , ‘King’s College Hospital,London,UK;*Institute for Hematology,Belgrade,Yugoslavia.
HETEROGENEITY OF ACQUIRED IDIOPATHIC SlDEROBLASTIC ANEMIA @ISA): RESULTS OF A PROSPECTIVE FOLLOW-UP STUDY IN 189 PATIENTS C. Aul, U. Germ& G. Kobbe, A. Giagounidis, N. Gattermann, A. Heyll, Diisseldorf, Germany On cytomorphological grounds AISA can be divided into pure (dyserythropoietic) sideroblastic anemia (PSA) and a true myelodysplastic form (RARS) which is characterized by additional dysplastic features of non-erythroid cell lineages. Based on a retrospective analysis, we found that both types of sideroblastic anemia differed considerably in terms of survival and risk of AML transformation. To confirm these findings we performed a prospective study on 189 patients with newly diagnosed AISA seen in our clinic between June 1988 and October 1996. Distinction between PSA and RARS was carried out on initial bone marrow smears, and the patients were followed-up for disease progression until 31 December 1996. There were 69 patients with PSA and 120 patients with RARS. Median age at diagnosis was not different in both groups (71 vs 73 yrs). Concerning peripheral blood findings, patients with PSA presented with significantly higher neuaophil and platelet counts than patients with RARS (p
MDS occuring in close relatives are relatively uncommon; we report 5 kindreds in whom at least two membersof one generation acquired MDS; Out of 18 siblings from 5 kindreds, 11 had MDS (7 female and 4 male). In 2 kindreds, both parents of probands were affected: 1 with MDS, 2 with carcinoma of the lung and 1 with carcinoma of the uterus. MDS was diagnosedat the median age of 33 years (range 10-43 years).No constitutional abnormality was found in 4 kindreds, but in one 3 sisters had gonadal dysgenesis, and two of them also had MDS. One proband had exposure to chemicals; otherwise,occupational histories were unremarkable. Karyotype was normal in all affected membersof 3 kindreds; in two families, abnormal karyotype was detected in all patients: monosomy 7 in one family, and deletion 5 (q13:q33) in the other. Although reported kindreds are small,in 3 families the pattern of occurrence of MDS suggestsa single gene defect with recessive mode of inheritance,probably requiring a “second hit”,eg.del(Sq),in keeping with Knudson hypothesis. In 2 families a dominant pattern is apparent, the younger generation being affected at an earlier age; this may suggest compound genetic alterations, or coming into play of additional, possibly exogenous factors.Understanding the basis of familial MDS may lead to crucial advances in the study of carcinogenesis. We propose that an international registry for familial MDS be established,including DNA storage for molecular analysis.