Pediatric myelofibrosis: WHO 2024 update on myeloproliferative neoplasms calling?

Mishra, Pravas; Halder, Rohan; Aggarwal, Mukul; Seth, Tulika; Mahapatra, Manoranjan; Pati, Hara Prasad; Saxena, Renu; Tyagi, Seema

doi:10.1002/pbc.28232

Cited by 10 publications

(10 citation statements)

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“…7 DeLario et al demonstrated that five of 19 patients in their cohort achieved spontaneous resolution, but they suggested early institution of curative therapy, that is, hematopoietic stem cell transplant to reduce infection-related mortality, which accounted for 20% of their study. 8 Similarly, Mishra et al 3 reported benign course without any malignant transformation in their cohort, with more than 90% patients achieving transfusion independence with steroids, danazol, and/or hydroxyurea therapy. The role of JAK inhibitors is well established in adult myelofibrosis, but there are no data on pediatric patients.…”

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confidence: 85%

“…In addition, in around 25% patients, it is associated with spontaneous resolution without increased risk of leukemic transformation. 3 The occurrence of driver mutations (JAK2V617F, MPLW515K/L) in pediatric myelofibrosis are also rare as compared to adults where somatic mutations of JAK2V617F and MPLW515K/L in the bone marrow are found in approximately 50% and 5%-10% of patients, respectively. [3][4][5] However, contrary to these reports, our case had constitutional symptoms at presentation with moderate splenomegaly and a novel type 1 mutation in CALR gene mimicking features of adult PMF.…”

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confidence: 99%

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Primary pediatric myelofibrosis with a novel calreticulin gene mutation

Chauhan

Gupta

et al. 2022

Pediatric Blood & Cancer

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Primary myelofibrosis (PMF) is a rare but serious clonal hematopoietic disorder in adults characterized by cytopenia, leukoerythroblastic picture, hepatosplenomegaly, and bone marrow fibrosis, with a reported incidence of 0.2-1.5 cases per 100,000 individuals. 1,2 We report a case of 12-year-old female diagnosed as PMF with a novel mutation in calreticulin (CALR) gene, which has not been reported previously in pediatric myelofibrosis.A 12-year-old female consulted our outpatient department with 3-year history of gradually progressive abdominal distension with 2month history of pain and dragging sensation in the left hypochondrium, generalized weakness, loss of appetite, and weight loss more than 10% of bodyweight within 1 month. Patient had no history of fever, rashes, joint pain or swelling, bruising, or bleeding from any site. There was no history of any blood transfusions or history of

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confidence: 85%

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confidence: 99%

Primary pediatric myelofibrosis with a novel calreticulin gene mutation

Chauhan

Gupta

et al. 2022

Pediatric Blood & Cancer

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“…By contrast, IMF in the pediatric setting is pathogenetically heterogeneous (2). In comparison to adult PMF, in the three largest studies of pediatric IMF, JAK2 V617F, CALR , or MPL W515L mutations were detected in 17% of patients, most of which were CALR mutations detected in a single study (2)(3)(4)(5).…”

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confidence: 99%

Non-consanguineous pediatric myelofibrosis due to MPIG6B mutations in a patient of European ancestry

Yenwongfai

Arora

Smith

et al. 2022

Preprint

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Myelofibrosis (MF) in the pediatric setting is uncommon and appears to be pathogenically heterogeneous. MF due to intrinsic bone marrow abnormality (IMF) is distinct from adult-type Primary myelofibrosis (PMF) as they can lack the common genetic markers of clonality. To date, all but two reported patients with pediatric MF and mutated MPIG6B have been Arabic, and all reported cases have had a family history of consanguinity. Here we report the first North American patient of European ancestry with pediatric MF in whom novel compound heterozygous mutations of MPIG6B were identified.

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“…1,2 Primary MF has been reported in a limited number of children. [3][4][5] Germline mutations in genes such as MPL, VPS45, and RBSN are associated with primary MF. 6-8 A recent report described an Arab family with MF associated with a homozygous mutation in MPIG6B (also known as G6B or C6orf25).…”

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confidence: 99%

Detrimental variants in MPIG6B in two children with myelofibrosis: Does immune dysregulation contribute to myelofibrosis?

Batis

Almugairi

Almugren

et al. 2021

Pediatric Blood & Cancer

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is a rare disorder in children. It mostly occurs secondary to disorders such as malignancy, vitamin D deficiency, autoimmunity, and infections. 1,2 Primary MF has been reported in a limited number of children. [3][4][5] Germline mutations in genes such as MPL, VPS45, and RBSN are associated with primary MF. 6-8 A recent report described an Arab family with MF associated with a homozygous mutation in MPIG6B (also known as G6B or C6orf25). 9Another report described four unrelated Arab families with homozygous loss-of-function variants in MPIG6B associated with childhood MF. 10 MPIG6B is located in the class III region of the major histocompatibility complex and encodes G6B protein that interacts with protein tyrosine phosphatases Shp1 and Shp2. 11,12 G6B is primarily expressed in platelets. [13][14][15] G6B knockout mice had low platelet count, increased platelet volume, and platelet dysfunction. 10,16 We report two unrelated patients who presented during infancy with anemia, thrombocytopenia, and focal MF and had homozygous mutations in MPIG6B. The first case is a 10-year-old female who presented at 7 months of age with epistaxis and had thrombocytopenia and anemia. Her parents are first cousins. Physical examination was unremarkable. Blood smear showed some giant platelets and anisopoikilocytosis with teardrop cells, schistocytes, elliptocytes, and spherocytes. Bone marrow (BM) at age 1 year was hypercellular with megakaryocyte clusters, as shown in Figure S1. BM was infiltrated with large cells with vesicular nuclei and prominent nucleoli and was surrounded by a mixture of small lymphocytes and eosinophils.The large cells were positive for CD10, CD20, CD45, and CD79a and negative for CD3, CD7, CD15, CD30, CD34, CD56, CD57, pan CK, desmin, and synaptophysin. The background cells were positive for CD15, CD45, MPO and negative for other markers. There was a mild increase in reticulin fibers. Follow-up BM studies showed subsequent fading of lymphocytic infiltration, dysplastic megakaryocytes, a slight reduction in erythropoiesis, and a marked increase in MF with no myelodysplasia (Figure S1). Cytogenetic analysis was normal.Chromosomal fragility test, vitamin D, vitamin B12, and folate levels were normal. The patient required intermittent platelet transfusion.There was no major bleeding. The spleen progressively increased in size with an increase in platelet transfusion requirements. Splenectomy led to transient improvement in platelet counts. Whole exome sequencing (WES) revealed a homozygous loss-of-function mutation in MPIG6B: c.523C>T (p.Arg175Ter). Recently, the patient started to

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Pediatric myelofibrosis: WHO 2024 update on myeloproliferative neoplasms calling?

Cited by 10 publications

References 10 publications

Primary pediatric myelofibrosis with a novel calreticulin gene mutation

Primary pediatric myelofibrosis with a novel calreticulin gene mutation

Non-consanguineous pediatric myelofibrosis due to MPIG6B mutations in a patient of European ancestry

Detrimental variants in MPIG6B in two children with myelofibrosis: Does immune dysregulation contribute to myelofibrosis?

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