2003 Fiscal Year Annual Research Report

SKY法による骨髄異形成症候群に特異的な染色体転座の同定と新しい病型分類の確立

Research Project

Project/Area Number	14570991
Research Institution	KYOTO PREFECTURAL UNIVERSITY OF MEDICINE
Principal Investigator	谷脇雅史京都府立医科大学, 医学研究科, 教授 (80163640)
Co-Investigator(Kenkyū-buntansha)	奥田司京都府立医科大学, 医学研究科, 講師 (30291587)
Keywords	SKY法 / 蛍光in situ分子雑種法 / 骨髄異形成症候群 / 急性骨髄性白血病 / 染色体転座 / 染色体欠失 / 遺伝子診断
Research Abstract	Multicolor spectral karyotyping (SKY)法を用いて骨髄異形成症候群(MDS)あるいは急性骨髄性白血病58例の染色体異常を解析した.第5染色体の長腕と第20染色体長腕の欠失(5q-と20q-)を,各々17例(25%)と6例に検出した.17p11-q11.2を切断点とし17pの欠失をともなう不均衡転座を9例に認めた.転座相手は,5q11.2が2例,2q33,3q21,11p11,11q13,14q11.2,21q22,22q11を各1例に認めた.5q-の17例中11例は5qの欠失をともなう不均衡転座であり,このうち,5q11.2を切断点とする症例は7例(41%)であり,5q13-14が3例(18%),5q31が1例(6%)であった.5q11.2転座の相手染色体は,15q11.2が2例,17p11が2例,no.9,no.12,no.13が各1例であった.5q13-14の相手染色体はno.4が2例,no.12が1例である.5q31の相手染色体はno.13である.5q-の残りの6例は,腕内欠失であり,del(5)(q11.2q13.1),del(5)(q11.2q33),del(5)(q11.2q15),del(5)(q13q33),del(5)(q13q31),del(5)(q22q35)であった.20q-の6例中2例は相互転座であり,t(17;20)(p11;q11)とt(20;22)(q11;q11)であった.SKY解析によって,der(5)t(5;15)(q11.2;q11.2)とder(5)t(5;17)(q11.2;p11)を,NDSに特異的な染色体転座として同定した.

Research Products
(23 results)

All Other

All Publications (23 results)

[Publications] Miura K: "Frequent occurrence of CCND1 deregulation in patients with early stages of plasma cell dyscrasia"Cancer Sci. 94・4. 350-354 (2003)
[Publications] Horiike S: "Configuration of the TP53 gene as an independent prognostic parameter of myelodysplastic syndrome"Leukemia Lymphoma. 44・6. 915-922 (2003)
[Publications] Sakabe H: "MALT lymphoma at the base of the tongue developing without any background of immunodeficiency or autoimmune disease"Leukemia Lymphoma. 44・5. 875-878 (2003)
[Publications] Nomura K: "Detection of t(11;18)(q21;q21) in marginal zone lymphoma of mucosa-associated lymphocytic tissue type on paraffin-embedded tissue sections by using fluorescence in situ hybridization"Cancer Genet Cytogenet. 140・1. 49-54 (2003)
[Publications] Tomitsuka E: "Direct evidence for expression of type II flavoprotein subunit in human complex II (succinate-ubiquinone reductase)"Biophys Res Commun. 311・3. 774-779 (2003)
[Publications] Nomura K: "Successful treatment with rifampin for fulminant antibiotics-associated colitis in a patient with non-Hodgkin's lymphoma"World J Gastroenterol. 10・5. 765-766 (2003)
[Publications] Imai H: "Intravascular large B-cell lymphoma presenting with mass lesions in the central nervous system : A report of five cases"Pathol Int. 54・4. 231-236 (2003)
[Publications] Matsumoto Y: "Detection of t(14;18) in follicular lymphoma by dual-color fluorescence in situ hybridization on paraffin-embedded tissue sections"Cancer Genet Cytogenet. 150・1. 22-26 (2003)
[Publications] Nishimura M: "VWRPY motif-dependent and -independent roles of AML1/Runx1 transcription factor in murine hematopoietic development"Blood. 103・2. 562-570 (2004)
[Publications] Akano Y: "Molecular cytogenetic characterization of non-Hodgkin's lymphoma with double and cryptic translocations of the immunoglobulin heavy chain gene"Leukemia Lymphoma. (in press).
[Publications] Nakao M: "Novel loss-of-function mutations of the haematopoiesis-related transcription factor, AML1/RUNX1,detected in acute myeloblastic leukaemia and myelodysplastic syndrome"Br J Haematol. (in press).
[Publications] 谷脇雅史: "MGUSの分子病態と予後因子"血液・腫瘍科. 46・2. 155-160 (2003)
[Publications] 谷脇雅史: "造血器腫瘍のFISH解析"ゲノム医学. 3・2. 155-160 (2003)
[Publications] 谷脇雅史: "白血病の分子発症機序(染色体と癌遺伝子"日内会誌. 92・6. 942-949 (2003)
[Publications] 谷脇雅史: "悪性リンパ腫の診断の実際-必要な検査とその読み方-"Medical Practice. 20・7. 1165-1169 (2003)
[Publications] 谷脇雅史: "原発性マクログロブリン血症:治療法の進歩"血液・腫瘍科. 47・1. 105-110 (2003)
[Publications] 谷脇雅史: "白血病のFISH解析"内科. 92・3. 450-453 (2003)
[Publications] 谷脇雅史: "染色体異常と遺伝子再構成"臨床医. 29・9. 1648-1652 (2003)
[Publications] 野村憲一: "びまん性大細胞型B細胞リンパ腫の診断における組織FISHの意義"血液・腫瘍科. 47・4. 314-319 (2003)
[Publications] 谷脇雅史: "遺伝子医学の入門書(有井滋樹, 武田俊一, 平井久丸, 三木哲郎編)"メディカルドゥ. 309 (2003)
[Publications] 谷脇雅史: "B細胞非ホジキンリンパ腫治療のストラテジー(堀田知光編)"先端医学社. 254 (2003)
[Publications] 谷脇雅史: "染色体異常とがん(有吉寛, 上田龍三, 西條長宏, 峠哲哉, 福岡正博編)"癌と化学治療社. 1245 (2003)
[Publications] 谷脇雅史: "新しい診断と治療のABC 19・血液2骨髄異形成症候群(吉田弥太郎編)"最新医学社. 265 (2004)

2003 Fiscal Year Annual Research Report

SKY法による骨髄異形成症候群に特異的な染色体転座の同定と新しい病型分類の確立

Principal Investigator

谷脇 雅史 京都府立医科大学, 医学研究科, 教授 (80163640)

Research Products

[Publications] Miura K: "Frequent occurrence of CCND1 deregulation in patients with early stages of plasma cell dyscrasia"Cancer Sci. 94・4. 350-354 (2003)

[Publications] Horiike S: "Configuration of the TP53 gene as an independent prognostic parameter of myelodysplastic syndrome"Leukemia Lymphoma. 44・6. 915-922 (2003)

[Publications] Sakabe H: "MALT lymphoma at the base of the tongue developing without any background of immunodeficiency or autoimmune disease"Leukemia Lymphoma. 44・5. 875-878 (2003)

[Publications] Nomura K: "Detection of t(11;18)(q21;q21) in marginal zone lymphoma of mucosa-associated lymphocytic tissue type on paraffin-embedded tissue sections by using fluorescence in situ hybridization"Cancer Genet Cytogenet. 140・1. 49-54 (2003)

[Publications] Tomitsuka E: "Direct evidence for expression of type II flavoprotein subunit in human complex II (succinate-ubiquinone reductase)"Biophys Res Commun. 311・3. 774-779 (2003)

[Publications] Nomura K: "Successful treatment with rifampin for fulminant antibiotics-associated colitis in a patient with non-Hodgkin's lymphoma"World J Gastroenterol. 10・5. 765-766 (2003)

[Publications] Imai H: "Intravascular large B-cell lymphoma presenting with mass lesions in the central nervous system : A report of five cases"Pathol Int. 54・4. 231-236 (2003)

[Publications] Matsumoto Y: "Detection of t(14;18) in follicular lymphoma by dual-color fluorescence in situ hybridization on paraffin-embedded tissue sections"Cancer Genet Cytogenet. 150・1. 22-26 (2003)

[Publications] Nishimura M: "VWRPY motif-dependent and -independent roles of AML1/Runx1 transcription factor in murine hematopoietic development"Blood. 103・2. 562-570 (2004)

[Publications] Akano Y: "Molecular cytogenetic characterization of non-Hodgkin's lymphoma with double and cryptic translocations of the immunoglobulin heavy chain gene"Leukemia Lymphoma. (in press).

[Publications] Nakao M: "Novel loss-of-function mutations of the haematopoiesis-related transcription factor, AML1/RUNX1,detected in acute myeloblastic leukaemia and myelodysplastic syndrome"Br J Haematol. (in press).

[Publications] 谷脇雅史: "MGUSの分子病態と予後因子"血液・腫瘍科. 46・2. 155-160 (2003)

[Publications] 谷脇雅史: "造血器腫瘍のFISH解析"ゲノム医学. 3・2. 155-160 (2003)

[Publications] 谷脇雅史: "白血病の分子発症機序(染色体と癌遺伝子"日内会誌. 92・6. 942-949 (2003)

[Publications] 谷脇雅史: "悪性リンパ腫の診断の実際-必要な検査とその読み方-"Medical Practice. 20・7. 1165-1169 (2003)

[Publications] 谷脇雅史: "原発性マクログロブリン血症:治療法の進歩"血液・腫瘍科. 47・1. 105-110 (2003)

[Publications] 谷脇雅史: "白血病のFISH解析"内科. 92・3. 450-453 (2003)

[Publications] 谷脇雅史: "染色体異常と遺伝子再構成"臨床医. 29・9. 1648-1652 (2003)

[Publications] 野村憲一: "びまん性大細胞型B細胞リンパ腫の診断における組織FISHの意義"血液・腫瘍科. 47・4. 314-319 (2003)

[Publications] 谷脇雅史: "遺伝子医学の入門書(有井滋樹, 武田俊一, 平井久丸, 三木哲郎編)"メディカルドゥ. 309 (2003)

[Publications] 谷脇雅史: "B細胞非ホジキンリンパ腫治療のストラテジー(堀田知光編)"先端医学社. 254 (2003)

[Publications] 谷脇雅史: "染色体異常とがん(有吉寛, 上田龍三, 西條長宏, 峠哲哉, 福岡正博編)"癌と化学治療社. 1245 (2003)

[Publications] 谷脇雅史: "新しい診断と治療のABC 19・血液2骨髄異形成症候群(吉田弥太郎編)"最新医学社. 265 (2004)

谷脇雅史京都府立医科大学, 医学研究科, 教授 (80163640)