Cytogenetic studies in Fanconi's anemia. Description of a case with bone marrow clonal evolution

Abstract Two sisters in whom a diagnosis of Fanconi's anemia was made at ages 12 and 18 subsequently developed acute nonlymphocytic leukemia (ANLL). A third sibling had previously died at age 11 of apparent sepsis. Both sisters had cytogenetic studies that showed increased chromosomal breakage and a 46,XX karyotype, but subsequently developed ANLL after, or coincident with, the emergence of monosomy 7. These observations suggest that, in addition to myelodysplastic syndromes and defective neutrophil chemotaxis, monosomy 7 may be associated with the emergence of leukemia in this disorder.

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Inherited Bone Marrow Failure Syndromes in Children: 32 Years Experience in a Single Institution.

Blood ◽

10.1182/blood.v106.11.3751.3751 ◽

2005 ◽

Vol 106 (11) ◽

pp. 3751-3751

Author(s):

Guillermo I. Drelichman ◽

Nora F. Basack ◽

Alejandra Maro ◽

Graciela Schwalb ◽

Daniel H. Freigeiro ◽

...

Keyword(s):

Bone Marrow ◽

Bone Marrow Failure ◽

Dyskeratosis Congenita ◽

Single Institution ◽

Bone Marrow Aplasia ◽

Fanconi's Anemia ◽

Bone Marrow Failure Syndromes ◽

Fanconi’S Anemia ◽

Risk Of Malignancy

Abstract Inherited bone marrow failure syndromes (IBMFS) present chronic bone marrow failures, a familial incidence and high risk of malignancy. Objective: we describe our experience with patients with IBMFS. Since 02/73 to 02/05, 60 patients (pts) with IBMSF were diagnosed. Fanconi’s Anemia Blackfand-Diamond TAR-Shwachman-Diamond-Dyskeratosis Congenita Amegakaryocytic Thrombocytopenia.- Kostmann’s S. Familial AA-Pearson’s S N Pts 26 17 6 – 2 – 2 2 – 2 2 – 1 Median age at diagnosis 7.1 y 3 m 3m – 4 m – 6.4 y 2 m – 1.8 m 4 y – 3 y First hematologic sign Pancytopenia Anemia Thrombocytop. – Neutrop. – Pancytop. Thrombocytop. – Neutrop. Pancytop. – Anemia Bone Marrow Aplastic Erythroid Aplasia Megakar. Aplasia – Myeloid arrest– Aplastic Megakar. Aplasia– Myeloid arrest Aplastic – Vacuolated myeloid Physical Abnorm.(%) 88 47 100 – 50– 100 50 – 0 0 – 0 Aplastic Anemia (%) 100 0 0 – 0 – 100 50 – 0 100 – 100 Leukemia / MDS (%) 11.5 0 0 – 0 – 0 0 – 0 0 – 0 Mortality(%) 62 0 17 – 50 – 0 50 – 50 50 – 0 Conclusion: 68 % pts. presented with associated physical abnormalities, 53 % began the symptoms with bone marrow aplasia. With a median follow up: 16. 3 years (r: 1y – 32 y), 39 (65%) pts are alive (9 pts. post bone marrow transplantation) and 3 pts with Fanconi’s Anemia developed refractory Acute Myeloblastic Leukemia.

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Congenital Amegakaryocytic Thrombocytopenia with Congenital Deformities and a Leukemoid Blood Picture in the Newborn

Blood ◽

10.1182/blood.v12.6.567.567 ◽

1957 ◽

Vol 12 (6) ◽

pp. 567-576 ◽

Cited By ~ 33

Author(s):

JOHN L. EMERY ◽

R. R. GORDON ◽

JOHN RENDLE-SHORT ◽

S. VARADI ◽

A. J. N. WARRACK

Keyword(s):

Bone Marrow ◽

The Other ◽

Blood Picture ◽

Congenital Deformities ◽

Congenital Leukemia ◽

Fanconi's Anemia ◽

Fanconi’S Anemia ◽

The One

Abstract Two infants with absent radii are described. Both had hemorrhagic manifestations which occurred within 24 hours of birth, and from which they eventually died. The most important hematologic feature was absence of megakaryocytes in the bone marrow. Five cases showing a similar picture have been recorded, four as amegakaryocytic thrombocytopenia, and one as congenital leukemia. It is suggested that these cases are related on the one hand to Fanconi’s anemia, and on the other to congenital leukemia.

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