T-cell acute lymphoblastic leukemia in association with Börjeson-Forssman-Lehmann syndrome due to a mutation in PHF6
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T-cell acute lymphoblastic leukemia in association with Börjeson-Forssman-Lehmann syndrome due to a mutation in PHF6. / Chao, Mwe Mwe; Todd, Matthew A.; Kontny, Udo; Neas, Katherine; Sullivan, Michael J.; Hunter, Alasdair G.; Picketts, David J.; Kratz, Christian P.
In: Pediatric Blood and Cancer, Vol. 55, No. 4, 10.2010, p. 722-724.Research output: Contribution to journal › Journal article › Research › peer-review
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TY - JOUR
T1 - T-cell acute lymphoblastic leukemia in association with Börjeson-Forssman-Lehmann syndrome due to a mutation in PHF6
AU - Chao, Mwe Mwe
AU - Todd, Matthew A.
AU - Kontny, Udo
AU - Neas, Katherine
AU - Sullivan, Michael J.
AU - Hunter, Alasdair G.
AU - Picketts, David J.
AU - Kratz, Christian P.
PY - 2010/10
Y1 - 2010/10
N2 - Börjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked mental retardation syndrome that is caused by germline mutations in PHF6. We describe a 9-year-old male with BFLS, who developed T-cell acute lymphoblastic leukemia (T-ALL). The PHF6 gene is located on the X chromosome and encodes a protein with two PHD-type zinc finger domains and four nuclear localization sequences. Previously, overexpression of Phf6 was observed in murine T-cell lymphomas. Our observation indicates that BFLS may represent a cancer predisposition syndrome and that mutations of PHF6 contribute to T-ALL. Pediatr Blood Cancer.
AB - Börjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked mental retardation syndrome that is caused by germline mutations in PHF6. We describe a 9-year-old male with BFLS, who developed T-cell acute lymphoblastic leukemia (T-ALL). The PHF6 gene is located on the X chromosome and encodes a protein with two PHD-type zinc finger domains and four nuclear localization sequences. Previously, overexpression of Phf6 was observed in murine T-cell lymphomas. Our observation indicates that BFLS may represent a cancer predisposition syndrome and that mutations of PHF6 contribute to T-ALL. Pediatr Blood Cancer.
KW - Börjeson-Forssman-Lehmann syndrome
KW - PHF6
KW - T-cell ALL/lymphoma
UR - http://www.scopus.com/inward/record.url?scp=77957078794&partnerID=8YFLogxK
U2 - 10.1002/pbc.22574
DO - 10.1002/pbc.22574
M3 - Journal article
C2 - 20806366
AN - SCOPUS:77957078794
VL - 55
SP - 722
EP - 724
JO - Medical and Pediatric Oncology. Supplement
JF - Medical and Pediatric Oncology. Supplement
SN - 0740-8226
IS - 4
ER -
ID: 319873959