Diagnosis and management of acquired aplastic anemia in childhood. Guidelines from the Marrow Failure Study Group of the Pediatric Haemato-Oncology Italian Association (AIEOP)

Barone, Angelica; Lucarelli, Annunziata; Onofrillo, Daniela; Verzegnassi, Federico; Bonanomi, Sonia; Cesaro, Simone; Fioredda, Francesca; Iori, Anna Paola; Ladogana, Saverio; Locasciulli, Anna; Longoni, Daniela; Lanciotti, Marina; Macaluso, Alessandra; Mandaglio, Rosalba; Marra, N; Martire, Baldo; Maruzzi, Matteo; Menna, Giuseppe; Notarangelo, Lucia Dora; Palazzi, Giovanni; Pillon, Marta; Ramenghi, Ugo; Russo, Giovanna; Svahn, Johanna; Timeus, Fabio; Tucci, Fábio C.; Cugno, Chiara; Zecca, Marco; Farruggia, Piero; Dufour, Carlo; Saracco, Paola

doi:10.1016/j.bcmd.2015.03.007

Cited by 64 publications

(47 citation statements)

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“…IBMF syndromes, if suspected, must be excluded and diagnosed by an appropriate molecular analysis. 26 Comprehensive targeted genetic screening has identified germline mutations of known IBMF syndromes in 5.1% of AA patients, some of whom did not have physical anomalies or a family history associated with the diseases. 27 Cytogenetic abnormalities in AA are absent or transient.…”

Section: Diagnosismentioning

confidence: 99%

The histopathology of bone marrow failure in children

Iwafuchi¹

2018

JCEH

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Bone marrow failure (BMF) is a rare but life-threatening disorder that usually manifests as (pan)cytopenia. BMF can be caused by a variety of diseases, but inherited BMF (IBMF) syndromes are a clinically important cause, especially in children. IBMF syndromes are a heterogeneous group of genetic disorders characterized by BMF, physical abnormalities, and predisposition to malignancy. An accurate diagnosis is critical, as disease-specific management, surveillance, and genetic counselling are required for each patient. The major differential diagnoses of IBMF syndromes are acquired aplastic anemia (AA) and refractory cytopenia of childhood (RCC). These diseases have overlapping features, such as BM hypocellularity and/or dysplastic changes, which make the differential diagnosis challenging. RCC has been defined as a histomorphologically distinct entity. Therefore, understanding the BM histopathology of these diseases is essential for the differential diagnosis. However, the BM histopathological features have not been characterized in detail, as descriptions of BM histopathology are very limited due to the rarity of the diseases. This review provides a detailed description of the BM histopathology in cases of RCC, AA, and the four most common IBMF syndromes: Fanconi anemia (FA), dysketatosis congenita (DC), Diamond-Blackfan anemia (DBA), and Shwachman-Diamond syndrome (SDS). An overview, including the clinical features and diagnosis, is also provided.

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Section: Diagnosismentioning

confidence: 99%

The histopathology of bone marrow failure in children

Iwafuchi¹

2018

JCEH

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“…Iron chelation should be started when transfusion load is higher than 200 ml/kg or liver iron is >7 mg/g dry weight. If liver iron content is not assessable, ferritin values >1000 μg/l can still be used as marker of iron overload (Marsh et al , ; Barone et al , ).…”

Section: Non‐sct Treatment Optionsmentioning

confidence: 99%

How I manage patients with Fanconi anaemia

Dufour

2017

Br J Haematol

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Fanconi Anaemia is a rare, genetic heterogeneous multisystem disease that is the most common congenital syndrome of marrow failure. Twenty genes have been reported to cause the disease. Remarkable progress has been made over the last 20 years in the understanding of the genetic and pathophysiological mechanisms. Unfortunately, these advances have not been completely paralleled by advances in medical treatment, where the most important component remains stem cell transplantation. This therapy, although contributing to long-term negative effects, such as increased occurrence of late malignancies, is the only current option capable of prolonging the survival of patients. In spite of relevant recent progress in matched unrelated donor transplants, the largest studies with longer follow-up still show a superiority of matched sibling donor transplants with a success rate, in selected cohorts, of over 90%. This article reviews different aspects of the disease, including genetics, diagnosis and treatment options, with special focus on stem cell transplantation, comprehensive post-diagnosis management, decision-making processes and long-term follow-up.

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“…Etiyolojide viral enfeksiyonlar, ilaçlar ve kimyasal maddeye maruz kalma sorumlu tutulsa da sonuç olarak bilinmeyen bir antijenik uyarana bağlı sitotoksik T hücre klonlarının aktivasyonu ve TNF-alfa, interferon-gama gibi sitokinlerin salınımı Kİ'de hasara neden olur (1). Batı ülkelerinde AA'nın yıllık insidansının yaklaşık milyonda 2 olduğu bildirilmiştir.…”

Section: Introductionunclassified

Allogeneic Stem Cell Transplantation in Children with Acquired Aplastic Anemia

Işık

2017

Turkish J Pediatr Dis

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Amaç: Pediatrik ağır edinsel aplastik anemide eğer hastanın HLA-özdeş bir aile içi donörü varsa hematopoetik kök hücre nakli ilk basamak tedavi olarak önerilmektedir. Çalışmada edinsel aplastik anemi tanısı ile izlenen hastalarımızın allojenik kök hücre nakli sonuçlarını değerlendirmeyi amaçladık. Gereç ve Yöntemler:Nisan 2010-Temmuz 2017 tarihleri arasında merkezimizde allojenik hematopoetik kök hücre nakli ile tedavi edilen 10 pediatrik edinsel aplastik anemi hastasının verileri hasta dosyalarından ve bilgisayar kayıtlarından geriye dönük olarak değerlendirildi.Bulgular: Ağır ve çok ağır edinsel aplastik anemi tanılı 10 hastaya toplam 12 allojenik hematopoetik kök hücre nakli yapıldı. Nakil sırasında ortalama yaş 10.9±3.76 (min=4.6-max=16.1) yıl ve hastaların %80'i kızdı. Ortalama tanı-nakil arası süre 10.1±7.65 (min=3-max=31) aydı ve vericilerin hepsi kardeşdi. İnfüze edilen ortalama çekirdekli hücre sayısı 4.69±2.17x108 (min=1.13x108-max=8.43x108) ve CD34+hücre sayısı 3.25±1.39x106 (min=1.65x106-max=6.55x106)'di. Ortalama nötrofil engrafman zamanı 16.2±0.8 (min=15-max=17) gün ve trombosit engrafman zamanı 26±6.5 (min=16-max= 37) gündü. Hiçbir hastada akut greft versus host hastalığı gözlenmedi, sadece bir hastada sınırlı kronik akciğer greft versus host hastalığı oluştu. Bir hastada primer greft yetmezliği, bir diğerinde ise sekonder greft yetmezliği gelişti. Takip süresince, yaklaşık 78 ay hiçbir hastada miyelodisplastik sendrom (MDS), lösemi, paroksismal nokturnal hemoglobinüri (PNH) ve sekonder malignite gelişmedi. Bir hasta henüz engrafman olmadan nakil sonrası +16. günde intrakranial kanama nedeni ile kaybedildi. Hayatta kalan hastaların %66.7'sinde kimerizm karmaydı (mix) ve tüm hastalar halen tam hematolojik remisyon olarak takip edilmektedir.Sonuç: Yaklaşık 7 yıllık takip süresinde hastalarımızda %90 genel sağkalım elde ettik. Literatürde bildirilen çalışmalarda immünosupresif tedavi sonrası görülen yüksek relaps ve klonal hematopoez oranları dikkate alındığında özellikle HLA tam uyumlu aile içi vericisi varsa allojenik hematopoetik kök hücre naklinin çocuklarda aplastik anemi tedavisinde birinci basamak tedavi olarak kullanılabileceğini düşündük.

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Diagnosis and management of acquired aplastic anemia in childhood. Guidelines from the Marrow Failure Study Group of the Pediatric Haemato-Oncology Italian Association (AIEOP)

Cited by 64 publications

References 50 publications

The histopathology of bone marrow failure in children

The histopathology of bone marrow failure in children

How I manage patients with Fanconi anaemia

Allogeneic Stem Cell Transplantation in Children with Acquired Aplastic Anemia

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