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Myelodysplasia in autosomal dominant and sporadic monocytopenia immunodeficiency syndrome: diagnostic features and clinical implications

CALVO, Katherine R ; VINH, Donald C ; MYUNG, Kyungjae ; HSU, Amy P ; HICKSTEIN, Dennis D ; PITTALUGA, Stefania ; HOLLAND, Steven M ; MARIC, Irina ; WEIXIN WANG ; NOEL, Pierre ; STETLER-STEVENSON, Maryalice ; ARTHUR, Diane C ; RAFFELD, Mark ; DUTRA, Amalia ; PAK, Evgenia

Haematologica (Roma), 2011-08, Vol.96 (8), p.1221-1225 [Periódico revisado por pares]

Pavia: Ferrata Storti Foundation

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Título:
Myelodysplasia in autosomal dominant and sporadic monocytopenia immunodeficiency syndrome: diagnostic features and clinical implications
Autor: CALVO, Katherine R ; VINH, Donald C ; MYUNG, Kyungjae ; HSU, Amy P ; HICKSTEIN, Dennis D ; PITTALUGA, Stefania ; HOLLAND, Steven M ; MARIC, Irina ; WEIXIN WANG ; NOEL, Pierre ; STETLER-STEVENSON, Maryalice ; ARTHUR, Diane C ; RAFFELD, Mark ; DUTRA, Amalia ; PAK, Evgenia
Assuntos: Adolescent ; Adult ; Aged ; Aged, 80 and over ; Biological and medical sciences ; Brief Reports ; Child ; Cytogenetic Analysis ; Disease Progression ; Female ; Genomic Instability - genetics ; Hematologic and hematopoietic diseases ; Humans ; Immunodeficiencies ; Immunodeficiencies. Immunoglobulinopathies ; Immunologic Deficiency Syndromes - complications ; Immunologic Deficiency Syndromes - diagnosis ; Immunopathology ; Immunophenotyping ; Leukemia, Myeloid, Acute - pathology ; Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis ; Leukopenia - pathology ; Lymphocytes - pathology ; Male ; Medical sciences ; Middle Aged ; Monocytes - pathology ; Mutation - genetics ; Myelodysplastic Syndromes - complications ; Myelodysplastic Syndromes - diagnosis ; Myelodysplastic Syndromes - genetics ; Primary Myelofibrosis - pathology ; Risk ; Young Adult
É parte de: Haematologica (Roma), 2011-08, Vol.96 (8), p.1221-1225
Notas: ObjectType-Article-2
SourceType-Scholarly Journals-1
ObjectType-Feature-1
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Descrição: A novel, genetic immunodeficiency syndrome has been recently described, herein termed "MonoMAC". It is characterized by severe circulating monocytopenia, NK- and B-lymphocytopenia, severe infections with M. avium complex (MAC), and risk of progression to myelodysplasia/acute myelogenous leukemia. Detailed bone marrow analyses performed on 18 patients further define this disorder. The majority of patients had hypocellular marrows with reticulin fibrosis and multilineage dysplasia affecting the myeloid (72%), erythroid (83%) and megakaryocytic (100%) lineages. Cytogenetic abnormalities were present in 10 of 17 (59%). Despite B-lymphocytopenia, plasma cells were present but were abnormal (e.g. CD56(+)) in nearly half of cases. Increased T-cell large granular lymphocyte populations were present in 28% of patients. Chromosomal breakage studies, cell cycle checkpoint functions, and sequencing of TERT and K-RAS genes revealed no abnormalities. MonoMAC appears to be a unique, inherited syndrome of bone marrow failure. We describe distinctive bone marrow features to help in its recognition and diagnosis. (Clinicaltrials.gov identifiers: NCT00018044, NCT00923364, NCT01212055).
Editor: Pavia: Ferrata Storti Foundation
Idioma: Inglês

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Myelodysplasia in autosomal dominant and sporadic monocytopenia immunodeficiency syndrome: diagnostic features and clinical implications

CALVO, Katherine R ; VINH, Donald C ; MYUNG, Kyungjae ; HSU, Amy P ; HICKSTEIN, Dennis D ; PITTALUGA, Stefania ; HOLLAND, Steven M ; MARIC, Irina ; WEIXIN WANG ; NOEL, Pierre ; STETLER-STEVENSON, Maryalice ; ARTHUR, Diane C ; RAFFELD, Mark ; DUTRA, Amalia ; PAK, Evgenia

Pavia: Ferrata Storti Foundation

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