;PMID: 9797083 ;source_file_1392.mrg ;Release 0.9 of PennBioIE ;Funded by NSF ITR EIA-0205448 ;0)section:[e:0..33] = [t:0..33] ;1)sentence:[e:38..133] = [t:38..133] ;2)section:[e:137..220] = [t:137..220] ;3)section:[e:224..343] = [t:224..343] ;4)sentence:[e:347..513] = [t:347..513] ;5)sentence:[e:514..709] = [t:514..709] ;6)sentence:[e:710..989] = [t:710..989] ;7)sentence:[e:990..1072] = [t:990..1072] ;8)sentence:[e:1073..1177] = [t:1073..1177] ;9)section:[e:1181..1225] = [t:1181..1225] ;section 0 Span:0..33 ;Ann Hematol 1998 Sep;77(3):131-4 (SEC (FRAG (DT:[0..3] Ann) (NNP:[4..11] Hematol) (CD:[13..17] 1998) (CD:[18..25] Sep;77-LRB-) (CD:[25..26] 3) (-RRB-:[26..27] -RRB-) (CD:[27..31] :131) (HYPH:[31..32] -) (CD:[32..33] 4))) ;sentence 1 Span:38..133 ;c-kit mutation and osteopetrosis-like osteopathy in a patient with systemic ;mast cell disease. ;[38..43]:gene-rna:"c-kit" ;[105..132]:malignancy:"systemic mast cell disease" (SENT (NP-HLN (NP (NP (NN:[38..43] c-kit) (NN:[44..52] mutation)) (CC:[53..56] and) (NP (ADJP (NN:[57..70] osteopetrosis) (HYPH:[70..71] -) (JJ:[71..75] like)) (NN:[76..86] osteopathy))) (PP-LOC (IN:[87..89] in) (NP (NP (DT:[90..91] a) (NN:[92..99] patient)) (PP (IN:[100..104] with) (NP (JJ:[105..113] systemic) (NML (NN:[114..118] mast) (NN:[120..124] cell)) (NN:[125..132] disease))))) (.:[132..133] .))) ;section 2 Span:137..220 ;Reinacher-Schick A, Petrasch S, Longley BJ, Teschendorf C, Graeven U, ;Schmiegel W. (SEC (FRAG (NNP:[137..146] Reinacher) (HYPH:[146..147] -) (NNP:[147..153] Schick) (NNP:[154..155] A) (,:[155..156] ,) (NNP:[157..165] Petrasch) (NNP:[166..168] S,) (NNP:[169..176] Longley) (NNP:[177..179] BJ) (,:[179..180] ,) (NNP:[181..192] Teschendorf) (NNP:[193..194] C) (,:[194..195] ,) (NNP:[196..203] Graeven) (NNP:[204..205] U) (,:[205..206] ,) (NNP:[207..216] Schmiegel) (NNP:[218..220] W.))) ;section 3 Span:224..343 ;Department of Medicine, Knappschaftskrankenhaus, Ruhr University, Bochum, ;Germany. Anke.C.Reinacher@ruhr-uni-bochum.de (SEC (FRAG (NNP:[224..234] Department) (IN:[235..237] of) (NNP:[238..246] Medicine) (,:[246..247] ,) (NNP:[248..271] Knappschaftskrankenhaus) (,:[271..272] ,) (NNP:[273..277] Ruhr) (NNP:[278..288] University) (,:[288..289] ,) (NNP:[290..296] Bochum) (,:[296..297] ,) (NNP:[299..306] Germany) (.:[306..307] .) (NNP:[308..312] Anke) (NNP:[312..315] .C.) (NNP:[315..329] Reinacher@ruhr) (HYPH:[329..330] -) (JJ:[330..333] uni) (HYPH:[333..334] -) (JJ:[334..340] bochum) (NN:[340..343] .de))) ;sentence 4 Span:347..513 ;We describe the case of a 69-year-old man with systemic mastocytosis and ;severe osteopetrosis who carries a somatic activating mutation in the c-kit ;proto-oncogene. ;[394..415]:malignancy:"systemic mastocytosis" ;[491..496]:gene-rna:"c-kit" (SENT (S (NP-SBJ (PRP:[347..349] We)) (VP (VBP:[350..358] describe) (NP (NP (DT:[359..362] the) (NN:[363..367] case)) (PP (IN:[368..370] of) (NP (NP (NP (DT:[371..372] a) (ADJP (NML (CD:[373..375] 69) (HYPH:[375..376] -) (NN:[376..380] year)) (HYPH:[380..381] -) (JJ:[381..384] old)) (NN:[385..388] man)) (PP (IN:[389..393] with) (NP (NP (JJ:[394..402] systemic) (NN:[403..415] mastocytosis)) (CC:[416..419] and) (NP (JJ:[420..426] severe) (NN:[428..441] osteopetrosis))))) (SBAR (WHNP-1 (WP:[442..445] who)) (S (NP-SBJ-1 (-NONE-:[445..445] *T*)) (VP (VBZ:[446..453] carries) (NP (DT:[454..455] a) (JJ:[456..463] somatic) (VBG:[464..474] activating) (NN:[475..483] mutation)) (PP-LOC (IN:[484..486] in) (NP (DT:[487..490] the) (NN:[491..496] c-kit) (AFX:[498..503] proto) (HYPH:[503..504] -) (NN:[504..512] oncogene)))))))))) (.:[512..513] .))) ;sentence 5 Span:514..709 ;The patient initially presented with urticaria pigmentosa, progressing to ;systemic mast cell disease with severe anemia due to bone marrow ;involvement, chronic diarrhea, and hepatosplenomegaly. ;[551..571]:malignancy:"urticaria pigmentosa" ;[589..615]:malignancy:"systemic mast cell disease" (SENT (S (NP-SBJ (DT:[514..517] The) (NN:[518..525] patient)) (ADVP-TMP (RB:[526..535] initially)) (VP (VBD:[536..545] presented) (PP (IN:[546..550] with) (NP (NN:[551..560] urticaria) (NN:[561..571] pigmentosa))) (,:[571..572] ,) (S-ADV (NP-SBJ (-NONE-:[572..572] *)) (VP (VBG:[574..585] progressing) (PP (TO:[586..588] to) (NP (NP (JJ:[589..597] systemic) (NML (NN:[598..602] mast) (NN:[603..607] cell)) (NN:[608..615] disease)) (PP (IN:[616..620] with) (NP (JJ:[621..627] severe) (NN:[628..634] anemia))))) (PP (JJ:[635..638] due) (PP (TO:[639..641] to) (NP (NP (NML (NN:[642..646] bone) (NN:[647..653] marrow)) (NN:[655..666] involvement)) (,:[666..667] ,) (NP (JJ:[668..675] chronic) (NN:[676..684] diarrhea)) (,:[684..685] ,) (CC:[686..689] and) (NP (NN:[690..708] hepatosplenomegaly)))))))) (.:[708..709] .))) ;sentence 6 Span:710..989 ;Direct sequencing using amplimers from reverse transcriptase-polymerase ;chain reactions (RT-PCR) from skin mast cell-derived RNA revealed a point ;mutation in the c-kit proto-oncogene at position 2468, introducing a new ;recognition site for the restriction endonuclease HinfI. ;[750..771]:gene-protein:"reverse transcriptase" ;[772..782]:gene-protein:"polymerase" ;[852..866]:variation-type:"point mutation" ;[874..879]:gene-rna:"c-kit" ;[899..912]:variation-location:"position 2468" ;[983..988]:gene-protein:"HinfI" (SENT (S (NP-SBJ (NP (JJ:[710..716] Direct) (NN:[717..727] sequencing)) (VP (VBG:[728..733] using) (NP (NP (NNS:[735..744] amplimers)) (PP (IN:[745..749] from) (NP (NP (NML (JJ:[750..757] reverse) (NN:[758..771] transcriptase)) (HYPH:[771..772] -) (NML (NN:[772..782] polymerase) (NN:[783..788] chain) (NNS:[789..798] reactions))) (NP (-LRB-:[799..800] -LRB-) (NML (NN:[800..802] RT)) (HYPH:[802..803] -) (NML (NN:[803..806] PCR)) (-RRB-:[806..807] -RRB-)))) (PP (IN:[808..812] from) (NP (NN:[814..818] skin) (ADJP (NML (NN:[819..823] mast) (NN:[824..828] cell)) (HYPH:[828..829] -) (VBN:[829..836] derived)) (NN:[837..840] RNA)))))) (VP (VBD:[841..849] revealed) (NP (NP (NP (DT:[850..851] a) (NN:[852..857] point) (NN:[858..866] mutation)) (PP-LOC (IN:[867..869] in) (NP (DT:[870..873] the) (NN:[874..879] c-kit) (AFX:[880..885] proto) (HYPH:[885..886] -) (NN:[886..894] oncogene))) (PP-LOC (IN:[896..898] at) (NP (NN:[899..907] position) (CD:[908..912] 2468)))) (,:[912..913] ,) (VP (VBG:[914..925] introducing) (NP (DT:[926..927] a) (JJ:[928..931] new) (NN:[932..943] recognition) (NN:[944..948] site)) (PP (IN:[949..952] for) (NP (NP (DT:[953..956] the) (NN:[957..968] restriction) (NN:[970..982] endonuclease)) (NP (NN:[983..988] HinfI))))))) (.:[988..989] .))) ;sentence 7 Span:990..1072 ;Treatment with interferon-alpha 2a, prednisone, and erythropoietin was ;initiated. ;[1005..1024]:gene-protein:"interferon-alpha 2a" ;[1043..1057]:gene-protein:"erythropoietin" (SENT (S (NP-SBJ-1 (NP (NN:[990..999] Treatment)) (PP (IN:[1000..1004] with) (NP (NP (NN:[1005..1021] interferon-alpha) (NN:[1022..1024] 2a)) (,:[1024..1025] ,) (NP (NN:[1026..1036] prednisone)) (,:[1036..1037] ,) (CC:[1038..1041] and) (NP (NN:[1043..1057] erythropoietin))))) (VP (VBD:[1058..1061] was) (VP (VBN:[1062..1071] initiated) (NP-1 (-NONE-:[1071..1071] *)))) (.:[1071..1072] .))) ;sentence 8 Span:1073..1177 ;Subsequently, clinical symptoms improved significantly and hemoglobin levels ;are now stable at 13 g/dl. ;[1133..1143]:gene-protein:"hemoglobin" (SENT (S (S (ADVP-TMP (RB:[1073..1085] Subsequently)) (,:[1085..1086] ,) (NP-SBJ (JJ:[1087..1095] clinical) (NNS:[1096..1104] symptoms)) (VP (VBD:[1105..1113] improved) (ADVP (RB:[1115..1128] significantly)))) (CC:[1129..1132] and) (S (NP-SBJ (NN:[1133..1143] hemoglobin) (NNS:[1144..1150] levels)) (VP (VBP:[1151..1154] are) (ADVP-TMP (RB:[1155..1158] now)) (ADJP-PRD (JJ:[1159..1165] stable)) (PP (IN:[1166..1168] at) (NP (NP (CD:[1169..1171] 13) (NN:[1172..1173] g)) (PP (SYM:[1173..1174] /) (NP (NN:[1174..1176] dl))))))) (.:[1176..1177] .))) ;section 9 Span:1181..1225 ;PMID: 9797083 [PubMed - indexed for MEDLINE] (SEC (FRAG (NNP:[1181..1185] PMID) (::[1185..1186] :) (CD:[1187..1194] 9797083) (IN:[1195..1196] -LSB-) (NNP:[1196..1202] PubMed) (HYPH:[1203..1204] -) (JJ:[1205..1212] indexed) (IN:[1213..1216] for) (NNP:[1217..1225] MEDLINE-RSB-)))