INT214886

Context Info Confidence 0.08 First Reported 2007 Last Reported 2007 Negated 0 Speculated 0 Reported most in Body Documents 1 Total Number 2 Disease Relevance 4.06 Pain Relevance 0

transport (Atcay) mRNA processing (FIP1L1) nucleolus (FIP1L1) RNA binding (FIP1L1) nucleus (FIP1L1)

Anatomy Link Frequency stem cell 2 Atcay (Mus musculus) FIP1L1 (Homo sapiens)

Pain Link Frequency Relevance Heat corticosteroid 52 5.00 cytokine 28 5.00 cva 8 5.00 fibrosis 8 5.00 chemokine 8 5.00 tolerance 6 5.00 Inflammation 4 5.00 vincristine 4 5.00 imagery 4 5.00 Central nervous system 2 5.00

Disease Link Frequency Relevance Heat Hypereosinophilic Syndrome 252 100.00 Disease 142 93.72 Hypersensitivity 12 83.92 Myeloproliferative Disorder 16 65.48 Splenomegaly 12 58.56 Anaemia 10 58.00 Thrombocytopenia 10 57.44 Hyperplasia 2 54.00 Myelofibrosis 2 52.08 Rhinitis 40 5.00

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Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

The following terms are currently used in medical literature to qualify different patient subsets among those fulfilling the diagnostic criteria of HES: • FIP1L1-PDGFRA(F/P)-associated HES, or F/P+ HES, for patients with clonal hypereosinophilia due to a sporadic hematopoiëtic stem cell chromosomal rearrangement resulting in fusion of two genes (FIP1L1 and PDGFRA) on 4q12; these patients are more appropriately classified as F/P+ chronic eosinophilic leukemia. • Chronic eosinophilic leukemia (CEL), for patients in whom clonality of eosinophils has been demonstrated (including those with the FIP1L1-PDGFRA fusion), or who present increased blasts; occasional reports indicate that some patients with CEL progress towards acute myeloid or eosinophilic leukemia. • Lymphocytic-HES (L-HES), for patients with chronic reactive (polyclonal) hypereosinophilia secondary to IL-5 over-production by T cells. • Myeloproliferative-HES (M-HES) may be used for patients with an array of clinical and biological features suggesting the possible existence of an underlying myeloproliferative disorder associated with hypereosinophilia, although underlying molecular defects are not detected (including increased serum vitamin B12, hepato- and/or splenomegaly, anemia and/or thrombocytopenia, circulating myeloid precursors, dysplastic eosinophils, bone marrow hypercellularity with left shift in maturation, myelofibrosis, increased serum tryptase, and response to imatinib); this term is occasionally extended more largely to include patients with known molecular defects (e.g.

HES Binding (associated) of FIP1L1 in stem cell associated with myeloproliferative disorder, anaemia, splenomegaly, hypereosinophilic syndrome, thrombocytopenia, myelofibrosis and hyperplasia

1) Confidence 0.08 Published 2007 Journal Orphanet J Rare Dis Section Body Doc Link PMC2045078 Disease Relevance 2.03 Pain Relevance 0

The following terms are currently used in medical literature to qualify different patient subsets among those fulfilling the diagnostic criteria of HES: • FIP1L1-PDGFRA(F/P)-associated HES, or F/P+ HES, for patients with clonal hypereosinophilia due to a sporadic hematopoiëtic stem cell chromosomal rearrangement resulting in fusion of two genes (FIP1L1 and PDGFRA) on 4q12; these patients are more appropriately classified as F/P+ chronic eosinophilic leukemia. • Chronic eosinophilic leukemia (CEL), for patients in whom clonality of eosinophils has been demonstrated (including those with the FIP1L1-PDGFRA fusion), or who present increased blasts; occasional reports indicate that some patients with CEL progress towards acute myeloid or eosinophilic leukemia. • Lymphocytic-HES (L-HES), for patients with chronic reactive (polyclonal) hypereosinophilia secondary to IL-5 over-production by T cells. • Myeloproliferative-HES (M-HES) may be used for patients with an array of clinical and biological features suggesting the possible existence of an underlying myeloproliferative disorder associated with hypereosinophilia, although underlying molecular defects are not detected (including increased serum vitamin B12, hepato- and/or splenomegaly, anemia and/or thrombocytopenia, circulating myeloid precursors, dysplastic eosinophils, bone marrow hypercellularity with left shift in maturation, myelofibrosis, increased serum tryptase, and response to imatinib); this term is occasionally extended more largely to include patients with known molecular defects (e.g.

HES Binding (associated) of FIP1L1 in stem cell associated with myeloproliferative disorder, anaemia, splenomegaly, hypereosinophilic syndrome, thrombocytopenia, myelofibrosis and hyperplasia

2) Confidence 0.08 Published 2007 Journal Orphanet J Rare Dis Section Body Doc Link PMC2045078 Disease Relevance 2.02 Pain Relevance 0

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