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Results: 8

1.

Myeloid Neoplasm

A clonal (malignant) proliferation of myeloid cells originating from a primitive stem cell. [from NCI]

MedGen UID:
445430
Concept ID:
C2939461
Neoplastic Process
2.

Hematopoietic Cell Transplant Relapse

Recurrence of malignancy following hematopoietic cell transplantation, based on one or more of the following parameters: marrow morphology, flow cytometry, cytogenetic studies, including fluorescence in situ hybridization, electrophoresis, immunofixation assays, and polymerase chain reaction-based assays for disease markers, or imaging results. [from NCI]

MedGen UID:
769729
Concept ID:
C3641089
Finding
3.

Mouse Myelodysplastic Syndrome

MedGen UID:
285621
Concept ID:
C1521837
Neoplastic Process
4.

Childhood Acute Monoblastic and Monocytic Leukemia

An acute monoblastic and monocytic leukemia occurring in children. [from NCI]

MedGen UID:
272456
Concept ID:
C1332941
Neoplastic Process
5.

Childhood Liver and Intrahepatic Bile Duct Neoplasm

A benign or malignant neoplasm of the liver parenchyma and intrahepatic bile ducts that occurs during childhood. [from NCI]

MedGen UID:
234130
Concept ID:
C1332971
Neoplastic Process
6.

Childhood Hematopoietic Neoplasm

MedGen UID:
234129
Concept ID:
C1332970
Neoplastic Process
7.

Childhood Acute Monoblastic Leukemia

An acute monoblastic leukemia occurring in children. [from NCI]

MedGen UID:
124640
Concept ID:
C0279645
Neoplastic Process
8.

Juvenile myelomonocytic leukemia

Juvenile myelomonocytic leukemia is an aggressive pediatric myelodysplastic syndrome (MDS)/myeloproliferative disorder (MPD) characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny (Loh et al., 2009). JMML constitutes approximately 30% of childhood cases of myelodysplastic syndrome and 2% of leukemia (Hasle et al., 1999). Although JMML is a progressive and often rapidly fatal disease without hematopoietic stem cell transplantation (HSCT), some patients have been shown to have a prolonged and stable clinical course without HSCT (Niemeyer et al., 1997). Chronic myelomonocytic leukemia (CMML) is a similar disorder with later onset. Both JMML and CMML have a high frequency of mutations affecting the RAS signaling pathway and show hypersensitivity to stimulation with GM-CSF, which causes STAT5 (601511) hyperphosphorylation (Loh et al., 2009). Genetic Heterogeneity of Juvenile Myelomonocytic Leukemia In up to 60% of cases of JMML, the RAS/MAPK pathway is deregulated due to somatic mutations in the PTPN11, KRAS, and NRAS genes. Additionally, both germline and somatic mutations in the CBL gene have been found in patients with JMML, indicating a frequency of 10 to 15% of JMML patients overall (Loh et al., 2009). Somatic disruptions of the GRAF gene (ARHGAP26; 605370) have also been found in patients with JMML. About 10 to 15% of JMML cases arise in children with neurofibromatosis type I (NF1; 162200) due to germline mutations in the NF1 gene (613113). In addition, patients with Noonan syndrome (NS1, 163950; NS3, 609942) or Noonan syndrome-like disorder (NSLL; 613563) due to germline mutations in the PTPN11, KRAS2, and CBL genes, respectively, also have an increased risk of developing JMML. Genetic Heterogeneity of Chronic Myelomonocytic Leukemia Somatic mutations in the CBL, ASXL1 (612990), TET2 (612839), and SF3B1 (605590) genes have been found in patients with CMML. [from OMIM]

MedGen UID:
138109
Concept ID:
C0349639
Neoplastic Process

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