Familial bone marrow monosomy 7. Evidence that the predisposing locus is not on the long arm of chromosome 7.

Shannon, Kevin; Turhan, Ali G.; Chang, Sharon S. Y.; Bowcock, Anne M.; Rogers, Paul C.; Carroll, William L.; Cowan, Morton J.; Glader, Bertil; Eaves, Connie J.; Eaves, Allen C.

doi:10.1172/jci114262

Cited by 101 publications

(35 citation statements)

References 36 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Some data indicate that the inherited predisposing locus in familial MDS or AML with −7/7q− is not located on chromosome 7. 56 This is in accordance with the absence of leukemia cases in a cohort study of 183 persons with constitutional aberrations of chromosome 7. 60 Spontaneous regression of −7 has occasionally been reported in the literature.…”

Section: Discussionsupporting

confidence: 86%

“…The development of AML with 7q− in a child with Silver-Russel syndrome is interesting in light of recent data showing uniparental disomy for the entire chromosome 7 in some of these patients. 54 Familial occurrence of MDS with −7/7q− has been reported in a number of cases 10,24,[55][56][57] and has been claimed to account for as many as one-third of the children with −7. 55 We found MDS or AML in relatives of 10 patients.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Myelodysplastic syndrome, juvenile myelomonocytic leukemia, and acute myeloid leukemia associated with complete or partial monosomy 7

et al. 1999

View full text Add to dashboard Cite

We reviewed the clinical features, treatment, and outcome of 100 children with myelodysplastic syndrome (MDS), juvenile myelomonocytic leukemia (JMML), and acute myeloid leukemia (AML) associated with complete monosomy 7 (−7) or deletion of the long arm of chromosome 7 (7q−). Patients with therapyinduced disease were excluded. The morphologic diagnoses according to modified FAB criteria were: MDS in 72 (refractory anemia (RA) in 11, RA with excess of blasts (RAEB) in eight, RAEB in transformation (RAEB-T) in 10, JMML in 43), and AML in 28. The median age at presentation was 2.8 years (range 2 months to 15 years), being lowest in JMML (1.1 year). Loss of chromosome 7 as the sole cytogenetic abnormality was observed in 75% of those with MDS compared with 32% of those with AML. Predisposing conditions (including familial MDS/AML) were found in 20%. Three-year survival was 82% in RA, 63% in RAEB, 45% in JMML, 34% in AML, and 8% in RAEB-T. Children with −7 alone had a superior survival than those with other cytogenetic abnormalities: this was solely due to a better survival in MDS (3-year survival 56 vs 24%). The reverse was found in AML (3-year survival 13% in −7 alone vs 44% in other cytogenetic groups). Stable disease for several years was documented in more than half the patients with RA or RAEB. Patients with RA, RAEB or JMML treated with bone marrow transplantation (BMT) without prior chemotherapy had a 3-year survival of 73%. The morphologic diagnosis was the strongest prognostic factor. Only patients with a diagnosis of JMML fitted what has previously been referred to as the monosomy 7 syndrome. Our data give no support to the concept of monosomy 7 as a distinct syndrome.

show abstract

Section: Discussionsupporting

confidence: 86%

Section: Discussionmentioning

confidence: 99%

Myelodysplastic syndrome, juvenile myelomonocytic leukemia, and acute myeloid leukemia associated with complete or partial monosomy 7

et al. 1999

View full text Add to dashboard Cite

show abstract

“…After osmotic lysis to remove contaminating red blood cells, DNA was extracted from leukocyte pellets by standard methodology as previously described (19,20). DNA samples prepared according to this protocol are from a mixed population of peripheral blood leukocytes (PBLs) that includes lymphocytes, monocytes, neutrophils, and eosinophils.…”

Section: Methodsmentioning

confidence: 99%

The rate of telomere sequence loss in human leukocytes varies with age

Frenck

Blackburn

Shannon

1998

Proc. Natl. Acad. Sci. U.S.A.

591

419

View full text Add to dashboard Cite

A gradual loss of telomeric repeat sequences with aging previously has been noted in normal adult tissues, and this process has been implicated in cell senescence. No data exist that address the rate of telomere shortening in normal human cells within families or early in life. To address these questions, we measured telomere lengths in peripheral blood leukocytes (PBLs) from 75 members of 12 families and in a group of unrelated healthy children who were 5-48 months old. Here we report the surprising observation that rates of telomere attrition vary markedly at different ages. Telomeric repeats are lost rapidly (at a rate of >1 kilobase per year) from the PBLs of young children, followed by an apparent plateau between age 4 and young adulthood, and by gradual attrition later in life. These data suggest that the loss of telomeric repeats in hematopoietic cells is a dynamic process that is differentially regulated in young children and adults. Our results have implications for current models of how telomeric sequences are lost in normal somatic cells and suggest that PBLs are an excellent tissue to investigate how this process is controlled.

show abstract

“…This was disproved when studies showed different parental origin of the retained chromosome in several sibling pairs with familial monosomy 7. [52][53][54] Although the causative gene has not yet been identified, the pattern of inheritance appears to be autosomal dominant with variable penetrance. Monosomy 7 is not present in the germline in these individuals but instead presents as an acquired abnormality recurring within the family, with the lesion developing at any time in the course of the individual's hematologic disease.…”

Section: Familial Monosomymentioning

confidence: 99%