Bone marrow failure syndromes:
Gespeichert in:
| Format: | Buch |
|---|---|
| Sprache: | English |
| Veröffentlicht: |
Philadelphia, PA
Saunders
2009
|
| Schriftenreihe: | Hematology, oncology clinics of North America
23,2 |
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis |
| Beschreibung: | XIV S., S. 159 - 382 Ill., graph. Darst. |
| ISBN: | 9781437704877 1437704875 |
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Datensatz im Suchindex
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| adam_text | Titel: Bone marrow failure syndromes
Autor: Bagby, Grover C.
Jahr: 2009
Bone Marrow Failure Syndromes
Contents
Preface xiii
Grover C. Bagby and Gabrielle Meyers
Global Marrow Failure
Dbgnosis and Treatment of Acquired Aplastic Anemia 159
Andrea Bacigalupo and Jakob Passweg
Acquired severe aplastic anemia can be treated successfully with either
immunosuppressive therapy or bone marrow transplantation. Although
immunosuppressive therapy can be readily administered to all patients,
it is not a curative approach and is associated with a higher risk of clonal
evolution than is transplantation, which yields rapid and long-lasting he-
matologic remission. This article reviews the key diagnostic and prognos¬
tic factors that influence the choice of therapy in patients with acquired
aplastic anemia.
Acquired Aplastic Anemia in Childhood 171
Eva C. Guinan
In comparison to past decades, children who have acquired aplastic ane¬
mia (AA) enjoy excellent overall survival that reflects improvements in sup¬
portive care, more accurate exclusion of children who have alternate
diagnoses, and advances in transplantation and immunosuppressive ther¬
apy (1ST). Matched sibling-donor hematopoietic stem cell transplants
(HSCT) routinely provide long-term survival in the range of 90%, and
75% of patients respond to 1ST. In this latter group, the barriers to overall
and complication-free survival include recurrence of AA, clonal evolution
with transformation to myelodysplasia/acute myelogenous leukemia, and
therapy-related toxicities. Improvements in predicting responses to 1ST,
in alternative-donor HSCT, and in rationalizing therapy by understanding
the pathophysiology in individual patients are likely to improve short-
and long-term outcomes for these children.
Fanconi Anemia 193
Allison M. Green and Gary M. Kupfer
Fanconi anemia (FA) is an autosomal and X-linked recessive disorder char¬
acterized by bone marrow failure, acute myelogenous leukemia, solid
tumors, and developmental abnormalities. Recent years have seen a dra¬
matic improvement in FA patient treatment, resulting in a greater survival
of children into adulthood. These improvements have been made despite
the fact that a definitive cellular function for the proteins in the FA pathway
has yet to be elucidated. Delineating the cellular functions of the FA path¬
way could help further improve the treatment options for FA patients and
further reduce the probability of succumbing to the disease. This article
Contents
reviews the current clinical aspects of FA including presentation, diagno¬
sis, and treatment followed by a review of the molecular aspects of FA
as they are currently understood.
Dyskeratosis Congenita 215
Sharon A. Savage and Blanche P. Alter
Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome
characterized clinically by the triad of abnormal nails, reticular skin pigmen¬
tation, and oral leukoplakia, and is associated with high risk of developing
aplastic anemia, myelodysplastic syndrome, leukemia, and solid tumors.
Patients have very short germline telomeres, and approximately half have
mutations in one of six genes encoding proteins that maintain telomere
function. Accurate diagnosis of DC is critical to ensure proper clinical man¬
agement, because patients who have DC and bone marrow failure do not
respond to immunosuppressive therapy and may have increased morbidity
and mortality associated with hematopoietic stem cell transplantation.
Shwachman-Diamond Syndrome: A Review of the Clinical Presentation,
Molecular Pathogenesis, Diagnosis, and Treatment 233
Lauri Burroughs, Ann Woolfrey, and Akiko Shimamura
Shwachman-Diamond syndrome is a rare autosomal-recessive, multisys¬
tem disease characterized by exocrine pancreatic insufficiency, impaired
hematopoiesis, and leukemia predisposition. Other clinical features in¬
clude skeletal, immunologic, hepatic, and cardiac disorders. This article
focuses on the clinical presentation, diagnostic work-up, clinical manage¬
ment, and treatment of patients with Shwachman-Diamond syndrome.
Lineage Restricted Marrow Failure
Diagnosis and Management of Acquired Pure Red Cell Aplasia 249
Kenichi Sawada, Makoto Hirokawa, and Naohito Fujishima
Pure red cell aplasia is a syndrome characterized by a severe normocytic
anemia, reticulocytopenia, and absence of erythroblasts from an other¬
wise normal bone marrow. Although the causes and natural course of
this syndrome are variable and although the anemia in some patients
can be managed by treatment of an underlying inflammatory or neoplastic
disease, the pathogenesis of a large number of cases is autoimmune, in¬
cluding those associated with thymoma, and are best managed with im¬
munosuppressive therapy.
Diamond-Blackfan Anemia: Diagnosis,Treatment, and Molecular Pathogenesis 261
Jeffrey M. Upton and Steven R. Ellis
Diamond-Blackfan anemia (DBA) is a genetically and clinically heteroge¬
neous disorder characterized by erythroid failure, congenital anomalies,
and a predisposition to cancer. Faulty ribosome biogenesis, resulting in
proapoptotic erythropoiesis leading to erythroid failure, is hypothesized to
Contents
be the underlying defect. The genes identified to date that are mutated in
DBA all encode ribosomal proteins associated with either the small or large
subunit and in these cases haploinsufficiency gives rise to the disease. Ex¬
traordinarily robust laboratory and clinical investigations have recently led
to demonstrable improvements in clinical care for patients with DBA.
The Congenital Dyserythropoietic Anemias 283
Raffaele Renella and William G. Wood
The congenital dyserythropoietic anemias (CDAs) are a heterogeneous
group of hereditary disorders that seem to be restricted to the erythroid lin¬
eage. They are characterized by morphologic abnormalities of erythroid
precursors in the bone marrow, resulting in ineffective erythropoiesis
and a suboptimal reticulocyte response. As with many rare disorders,
cases of CDA are often misdiagnosed, which may lead to inappropriate
management. In this review, the authors highlight the relevant clinical
data together with recent molecular advances that should aid decision
making in diagnosis and patient management.
Severe Congenital Neutropenia 307
Karl Welte and Cornelia Zeidler
Congenital neutropenia (CN) is a genetically heterogeneous bone marrow
failure syndrome characterized by a maturation arrest of myelopoiesis at
the level of the promyelocyte/myelocyte stage with peripheral blood abso¬
lute neutrophil counts below 0.5 x 109/L From early infancy patients
who have CN suffer from bacterial infections. Leukemias occur in both the
autosomal dominant and recessive subtypes of CN. The individual risk for
each genetic subtype needs to be evaluated further, because the number
of patients tested for the underlying genetic defect is still limited. Acquired
G-CSFR (CSF3R) mutations are detected in approximately 80% of pa¬
tients who had CN and who developed acute myeloid leukemia, suggest¬
ing that these mutations are involved in leukemogenesis.
Congenital Amegakeryocytic Thrombocytopenia and Thrombocytopenia
with Absent Radii 321
Amy E. Geddis
Thrombocytopenia in the neonate usually is acquired but in rare cases may
be caused by a congenital disorder. This article summarizes the diagnosis,
pathophysiology, and management of two congenital inherited platelet
disorders that present in the newborn period: congenital amegakaryocytic
thrombocytopenia and thrombocytopenia with absent radii.
Marrow Failure and Evolution of Neoplastic Clones
Bone Marrow Failure Syndromes: Paroxysmal Nocturnal Hemoglobinuria 333
Charles J. Parker
This article discusses the etiology of paroxysmal nocturnal hemoglobinuria
(PNH) and its relationship to marrow hyperplasia. The author posits that
Contents
the defining clinical pathology of PNH (ie, complementmediated intra-
vascular hemolysis) is an epiphenomenon that is a consequence of an
orchestrated response (ie, natural selection of PIGA-mulant stem cells)
to a specific type of bone marrow injury (ie, immune mediated). Manage¬
ment of PNH is discussed also.
Hypocellular Myelodysplasia 347
Elaine M. Sloand
Myelodysplasia must be considered in the differential diagnosis of patients
who have bone marrow failure, but bone marrow cellularity per se may not
substantially affect either response to therapy or prognosis. It is unclear
whether the primary pathophysiologic defect differs between hyper- and
hypoplastic patients who have myelodysplasia. Cellularity does not
seem to affect response to immunosuppressive therapy significantly and
does not seem to be the major factor affecting improvements in response
to lenalidomide, stem cell transplantation, or hematopoietic growth
factors.
Melodysplasia and Acute Leukemia as Late Complications of Marrow Failure:
Future Prospects for Leukemia Prevention 361
Grover C. Bagby and Gabrielle Meyers
Patients who have acquired and inherited bone marrow failure syndromes
are at risk for the development of clonal neoplasms including acute
myeloid leukemia, myelodysplastic syndrome, and paroxysmal nocturnal
hemoglobinuria. This article reviews the evidence supporting a model of
clonal selection, a paradigm that provides a reasonable expectation that
these often fatal complications might be prevented in the future.
Index 377
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| title | Bone marrow failure syndromes |
| title_auth | Bone marrow failure syndromes |
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