Deletion of chromosome 20 in bone marrow of patients with <scp>S</scp>hwachman‐<scp>D</scp>iamond syndrome, loss of the <scp><i>EIF6</i></scp> gene and benign prognosis

Pressato, Barbara; Valli, Roberto; Marletta, Cristina; Mare, Lydia; Montalbano, Giuseppe; Curto, Francesco Lo; Pasquali, Francesco; Maserati, Emanuela

doi:10.1111/j.1365-2141.2012.09033.x

Cited by 55 publications

(40 citation statements)

References 8 publications

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“…31,34,35 Isochromosome 7q and del(20q) can be seen for many years in the bone marrow from patients with stable SDS and can even become periodically undetectable. 1,[36][37][38] Surprisingly, in the present study, three out of four patients with i(7q) and SDS had significant complications at presentation or at last follow-up. In addition, one of the two patients with del(20q) developed RCEB and AML 11 years after the first appearance of this CMCA.…”

Section: Discussioncontrasting

confidence: 68%

The impact of category, cytopathology and cytogenetics on development and progression of clonal and malignant myeloid transformation in inherited bone marrow failure syndromes

et al. 2015

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Apart from challenges in defining IBMFS-associated CMMT, the classification and grading of this disorder presents another challenge, because some of the clinical and biological features that are used to characterize de novo CMMT (e.g. prominent dysplasia and increased marrow cellularity) are less common in IBMFS-associated CMMT. In 2002 we developed the "Category Cytology Cytogenetics" (CCC) classification for pediatric MDS, which aimed to address aspects not only of de novo MDS, but also of therapy-related and IBMFS-associated MDS.11

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Section: Discussioncontrasting

confidence: 68%

The impact of category, cytopathology and cytogenetics on development and progression of clonal and malignant myeloid transformation in inherited bone marrow failure syndromes

et al. 2015

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“…leukemia, in comparison with other patients [50,71]. Taken together, these observations imply a role for eIF6 in the pathogenesis of SDS syndrome.…”

Section: Shwachman-bodian-diamond (Sds) Syndromementioning

confidence: 50%

eIF6 anti-association activity is required for ribosome biogenesis, translational control and tumor progression

Brina

Miluzio

Ricciardi

et al. 2015

Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanism

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“…Such changes include the well-described somatic reversion seen in hematopoietic stem cells in FA patients [113], as well as isochromosome 7q or CN-LOH of chromosome arm 7q, resulting in enhanced SBDS protein expression in patients with Shwachman-Diamond Syndrome (SDS)[114,115]. The development of other clonal abnormalities, such as interstitial deletions involving chromosome arm 20q in patients with SDS, while not corrective of the underlying genetic defect, appear to be benign and can remain stable for years, can disappear spontaneously, and do not appear to increase the risk of developing MDS[116]. Common patterns of clonal evolution in acquired aplastic anemia similarly do not seem to increase the risk for MDS, and include somatic PIGA mutations, deletion of chromosome arm 13q, and 6p CN-LOH[101,117].…”

Section: Interpretation Of Cytogenetic Changes: All Clones Are Not Crmentioning

confidence: 99%

Genetic predisposition to myelodysplastic syndrome and acute myeloid leukemia in children and young adults

Babushok

Bessler

Olson

2015

Leukemia & Lymphoma

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Myelodysplastic syndrome (MDS) is a clonal blood disorder characterized by ineffective hematopoiesis, cytopenias, dysplasia and an increased risk of acute myeloid leukemia (AML). With the growing availability of clinical genetic testing, there is an increasing appreciation that a number of genetic predisposition syndromes may underlie apparent de novo presentations of MDS/AML, particularly in children and young adults. Recent findings of clonal hematopoiesis in acquired aplastic anemia add another facet to our understanding of the mechanisms of MDS/AML predisposition. As more predisposition syndromes are recognized, it is becoming increasingly important for hematologists and oncologists to have familiarity with the common as well as emerging syndromes, and to have a systematic approach to diagnosis and screening of at risk patient populations. Here, we provide a practical algorithm for approaching a patient with a suspected MDS/AML predisposition, and provide an in-depth review of the established and emerging familial MDS/AML syndromes caused by mutations in the ANKRD26, CEBPA, DDX41, ETV6, GATA2, RUNX1, SRP72 genes. Finally, we discuss recent data on the role of somatic mutations in malignant transformation in acquired aplastic anemia, and review the practical aspects of MDS/AML management in patients and families with predisposition syndromes.

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Deletion of chromosome 20 in bone marrow of patients with Shwachman‐Diamond syndrome, loss of the EIF6 gene and benign prognosis

Cited by 55 publications

References 8 publications

The impact of category, cytopathology and cytogenetics on development and progression of clonal and malignant myeloid transformation in inherited bone marrow failure syndromes

The impact of category, cytopathology and cytogenetics on development and progression of clonal and malignant myeloid transformation in inherited bone marrow failure syndromes

eIF6 anti-association activity is required for ribosome biogenesis, translational control and tumor progression

Genetic predisposition to myelodysplastic syndrome and acute myeloid leukemia in children and young adults

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