Monosomy 7/del (7q) in inherited bone marrow failure syndromes: A systematic review

Pezeshki, Alex; Podder, Shreya; Kamel, Ralph; Corey, Seth J.

doi:10.1002/pbc.26714

Cited by 20 publications

(19 citation statements)

References 24 publications

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“…It is known that at least 30% of cases of pediatric MDS arise from inherited bone marrow failure syndromes, many of which are associated with enhanced toxicity of standard chemotherapies 6‐8 . HSCT is commonly used as a definitive therapy to prevent transformation to AML, which is associated with a dismal prognosis 9,10 . Patients with a higher blast percentage at diagnosis may require some form of bridging therapy prior to HSCT, although receipt of intensive chemotherapy pre‐HSCT was not associated with decreased relapse risk post‐HSCT in one study 9 .…”

Section: Introductionmentioning

confidence: 95%

Single‐center pediatric experience with venetoclax and azacitidine as treatment for myelodysplastic syndrome and acute myeloid leukemia

Winters

Maloney

Treece

et al. 2020

Pediatric Blood & Cancer

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Background The BCL‐2 inhibitor venetoclax (ven) has revolutionized the treatment of acute myeloid leukemia (AML) in elderly adults, leading to its recent FDA approval for this population in combination regimens. Although extensive data exist for adult myeloid malignancies, there are limited preclinical data on the efficacy and/or dosing of venetoclax for pediatric myelodysplastic syndrome (MDS) or AML and thus little information to guide use of this regimen in pediatric patients. Our objective was to describe our single‐center experience with venetoclax in combination with the hypomethylating agent 5‐azacitidine (aza) in pediatric patients with MDS or AML. Procedure We conducted a retrospective chart review of patients treated at Children's Hospital Colorado prior to March 2020 with at least one cycle of ven/aza. Patients were included if between the ages of 1 and 25 years with a diagnosis of high‐grade MDS or AML. AML patients had relapsed or primary refractory disease or were deemed poor candidates for standard chemotherapy. Results Eight patients received ven/aza, two for high‐grade MDS and six for AML. Ven/aza was well tolerated by all patients. The most common adverse events seen with this regimen were gastrointestinal and hematologic. Morphologic responses were seen in six patients including both patients with MDS. All four AML responders became minimal residual disease negative. Three responders have thus far proceeded to allogeneic hematopoietic stem cell transplant following ven/aza. Conclusions Our clinical experience suggests that ven/aza is a safe and promising regimen that should be further explored with late‐phase clinical trials.

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Section: Introductionmentioning

confidence: 95%

Single‐center pediatric experience with venetoclax and azacitidine as treatment for myelodysplastic syndrome and acute myeloid leukemia

Winters

Maloney

Treece

et al. 2020

Pediatric Blood & Cancer

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“…Tespit ettiğimiz -7, +8, -20 bulguları, literatürde AA hastalarında görülen kromozom düzensizlikleri olarak bildirilmiştir. [11][12][13][14] Özellikle monozomi 7 ve trizomi 8'in en sık gözlenen kromozom sayı düzensizlikleri olduğu çeşitli çalışma grupları tarafından bildirilmiştir. 14,15 dir.…”

Section: Discussionunclassified

“…[11][12][13][14] Özellikle monozomi 7 ve trizomi 8'in en sık gözlenen kromozom sayı düzensizlikleri olduğu çeşitli çalışma grupları tarafından bildirilmiştir. 14,15 dir. 20,21 Değişik çalışma grupları AA ve Fanconi anemisi hastalarında 20q delesyonu ya da kromozom 20'nin karıştığı yeniden düzenlenmeler bildirmiştir.…”

Section: Discussionunclassified

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Cytogenetic Aberrations in Patients with Aplastic Anemia

Kuru¹,

Çırakoğlu²,

Yılmaz³

et al. 2019

Turkiye Klinikleri J Med Sci

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Aplastik Anemi Hastalarında Gözlenen Sitogenetik Düzensizlikler Ö ÖZ ZE ET T A Am ma aç ç: : Aplastik anemi (AA), retikülün artışı ve patolojik bir infiltrasyonun eşlik etmediği hiposelüler kemik iliği ve çevresel kanda pansitopeni ile karakterize hematolojik bir hastalıktır. Hastalık kalıtsal ya da edinsel olarak ortaya çıkar. Edinsel AA hastalarının %15'inde immün baskılayıcı tedaviyle hematolojik remisyon elde edildikten yıllar sonra miyelodisplastik sendrom, akut miyeloid lösemi (AML) gibi maliniteler görülmektedir. AA hastalarında yapılan konvansiyonel sitogenetik çalışmalarında, hastaların yaklaşık %12'sinde çeşitli kromozomları ilgilendiren sayısal ve yapısal anomaliler bildirilmiştir. En sık gözlenen sitogenetik bozukluklar; 7. kromozomda delesyon/monozomi ve +8'dir. Nadir de olsa 5. kromozomun uzun kolunda delesyon, +6, t(8;21), 13. kromozomda delesyon/monozomi ve Y kromozomunun kaybı gözlenmiştir.-7, tipik olarak dirençli sitopeni veya AML ile ilişkili bir kötü prognoz belirtecidir. +8 tespit edilen AA hastalarında ise immün baskılayıcı tedaviye iyi yanıt alındığı bildirilmektedir. G Ge er re eç ç v ve e Y Yö ön nt te em ml le er r: : AA tanılı 37 hastanın kemik iliği materyallerinde konvansiyonel sitogenetik yöntemiyle saptanan sitogenetik anomaliler sunulmaktadır. Çalışmada 24 ve 48 saatlik kültür yöntemleri uygulanmış ve GTL bant yöntemi ile incelenen kromozomlar "International System for Human Cytogenomic Nomenclature 2016" kurallarına göre değerlendirilmiştir. B Bu ul lg gu ul la ar r: : Hastalarımızın %32'sinde anormal karyotip saptanmıştır. Hastalarımızda gözlenen kromozom anomalilerinden-17 2 hastada,-7,+8,-9, +10,-10, +11,-14,-16, del (17) (q11q21),-19,-20,-21, del(22) (q13), inv(X)(p11p23), X ve Y kromozomunun kaybı 1'er hastada saptanmıştır. Beş hastada ise tetraploid seviyesinde (92±) metafazlar tespit edilmiştir. S So on nu uç ç: : Birer hastamızda gözlediğimiz-7 ve +8 bulguları AA'da sık görüldüğü bilinen anomalilerdendir. Çalışmamızda saptadığımız diğer anomalilerden-16, 17. kromozom anomalileri,-20 ve X ve Y anöploidileri de literatürde daha önce bildirilmiştir.

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“…Monosomy 7 or del(7q) occurred in ~17%, with a frequency comparable between types of IBMFS. 89 Because of the haploinsufficiency, it has been hypothesized that the loss of a tumor suppressor gene contributes to MDS/AML. Several genes have been proposed, including CUX1 , EZH2 , and MLL3 .…”

Section: Monogenic Disorders and Syndromesmentioning

confidence: 99%

New monogenic disorders identify more pathways to neutropenia: from the clinic to next-generation sequencing

Corey

Oyarbide

2017

Hematology

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Neutrophils are the most common type of leukocyte in human circulating blood and constitute one of the chief mediators for innate immunity. Defined as a reduction from a normal distribution of values, neutropenia results from a number of congenital and acquired conditions. Neutropenia may be insignificant, temporary, or associated with a chronic condition with or without a vulnerability to life-threatening infections. As an inherited bone marrow failure syndrome, neutropenia may be associated with transformation to myeloid malignancy. Recognition of an inherited bone marrow failure syndrome may be delayed into adulthood. The list of monogenic neutropenia disorders is growing, heterogeneous, and bewildering. Furthermore, greater knowledge of immune-mediated and drug-related causes makes the diagnosis and management of neutropenia challenging. Recognition of syndromic presentations and especially the introduction of next-generation sequencing are improving the accuracy and expediency of diagnosis as well as their clinical management. Furthermore, identification of monogenic neutropenia disorders is shedding light on the molecular mechanisms of granulopoiesis and myeloid malignancies.

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Monosomy 7/del (7q) in inherited bone marrow failure syndromes: A systematic review

Cited by 20 publications

References 24 publications

Single‐center pediatric experience with venetoclax and azacitidine as treatment for myelodysplastic syndrome and acute myeloid leukemia

Single‐center pediatric experience with venetoclax and azacitidine as treatment for myelodysplastic syndrome and acute myeloid leukemia

Cytogenetic Aberrations in Patients with Aplastic Anemia

New monogenic disorders identify more pathways to neutropenia: from the clinic to next-generation sequencing

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