Systemic Mastocytosis in a Child With t(8;21) Acute Myeloid Leukemia

Mahadeo, Kris Michael; Wolgast, Lucia R.; McMahon, Christine M.; Cole, Peter D.

doi:10.1002/pbc.23026

Cited by 20 publications

(7 citation statements)

References 10 publications

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“…Although there are some cases reports of SMAHNMD in children, 76–79 , this variant is more often seen in adults. ASM and MCL are rare variants with less favorable outcomes.…”

Section: Treatmentmentioning

confidence: 95%

Mastocytosis

Carter

Metcalfe

Komarow

2014

Immunology and Allergy Clinics of North America

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Article Synopsis Mastocytosis is a disorder of abnormal mast cell proliferation with clinical features that include flushing, pruritus, abdominal pain, diarrhea, hypotension, syncope and musculoskeletal pain. These features are the result of mast cell mediator release and infiltration into target organs. Patients of all ages may be affected, although in children manifestations primarily involve the skin. Most patients with systemic disease have a somatically acquired activating mutation in the KIT oncogene. This article encapsulates the etiology and pathogenesis of mastocytosis with an overview of the clinical features and the approach to diagnosis, evaluation and therapy in adults and pediatric patients.

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“…Although there are some cases reports of SMAHNMD in children, 76–79 , this variant is more often seen in adults. ASM and MCL are rare variants with less favorable outcomes.…”

Section: Treatmentmentioning

confidence: 95%

Mastocytosis

Carter

Metcalfe

Komarow

2014

Immunology and Allergy Clinics of North America

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“…One pediatric patient with cutaneous mastocytosis at five years of age is reported to have evolved to mast cell leukemia at 23 years of age . There are reports of coincident acute myeloid leukemia in pediatric patients with SM but no prior reports of HLH as a complication of the disease …”

Section: Discussionmentioning

confidence: 99%

“…8 There are reports of coincident acute myeloid leukemia in pediatric patients with SM but no prior reports of HLH as a complication of the disease. 9,10 The etiology of SM remained elusive until Nagata et al showed mutations in the c-KIT gene, a proto-oncogene that encodes a receptor for the stem cell factor. 11,12 Their cohort of four patients with mastocytosis and myelodysplasia had a somatic mutation leading to an aspartic acid-to-valine substitution (Asp816Val) and activation of the tyrosine kinase.…”

Section: Discussionmentioning

confidence: 99%

Hemophagocytic lymphohistiocytosis in systemic mastocytosis treated with allogeneic bone marrow transplant: A case report

Srinivasan

Ilonze

Travis

et al. 2019

Pediatric Blood & Cancer

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Systemic mastocytosis is a rare entity in pediatrics, usually associated with mutations in the c‐KIT gene. We describe a Caucasian female who presented with severe systemic mastocytosis with food allergies requiring prolonged total parenteral nutrition. Her course was further complicated by the onset of hemophagocytic lymphohistiocytosis, which responded poorly to conventional chemotherapy. She underwent an allogeneic hematopoietic stem cell transplant that resulted in resolution of all symptoms related to systemic mastocytosis and hemophagocytic lymphohistiocytosis. She is now disease‐free and without any complications two years after the transplant.

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“…A recent study in patients >15 years of age reported myeloproliferative disorders in the patient population of mainly adults with systemic mastocytosis (Cohen et al, 2014). There are, however, paediatric case reports of myeloproliferative diseases associated with systemic mastocytosis (n = 7) (Dror et al, 2000;Lee et al, 2007;Kanegane et al, 2009;Intzes et al, 2011;Mahadeo et al, 2011;Gadage et al, 2012), and one child with an apparent transition from cutaneous to systemic disease (Chantorn & Shwayder, 2012).…”

Section: Discussionmentioning

confidence: 99%

Abnormal bone marrow histopathology in paediatric mastocytosis

et al. 2014

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Summary The diagnostic criteria for paediatric mastocytosis are largely based on adult studies and bone marrow findings are not well described in children. We evaluated use of the World Health Organization (WHO) criteria for the diagnosis of systemic disease in paediatric mastocytosis. In addition, we identified unique clinico‐histopathological features within the biopsies. One hundred and thirteen children with paediatric mastocytosis were evaluated at the National Institutes of Health between 1986 and 2013. Complete bone marrow evaluations were performed in 50 cases. Seven children had repeat procedures. Bone marrows were analysed by histopathology, flow cytometry and for KIT D816V. Bone marrow biopsies displayed mild atypical haematopoietic maturation, increased haematogones and hypocellularity in a sub‐set of patients with urticaria pigmentosa, diffuse cutaneous mastocytosis and indolent systemic mastocytosis. Hypocellularity was most pronounced in those with urticaria pigmentosa. Haematogones were highest, on average, in patients with diffuse cutaneous mastocytosis or mastocytomas. There was no evidence of peripheral blood cytopenias, myelodysplastic syndrome, myeloproliferative neoplasm or leukaemia within this cohort. The WHO criteria are applicable for the diagnosis of systemic mastocytosis in paediatrics. Although unsuspected bone marrow findings typically seen in myeloproliferative disorders are frequent in paediatric mastocytosis, patients within this study remained clinically stable without progression to a more aggressive variant.

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Systemic Mastocytosis in a Child With t(8;21) Acute Myeloid Leukemia

Cited by 20 publications

References 10 publications

Mastocytosis

Mastocytosis

Hemophagocytic lymphohistiocytosis in systemic mastocytosis treated with allogeneic bone marrow transplant: A case report

Abnormal bone marrow histopathology in paediatric mastocytosis

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