{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,11]],"date-time":"2026-07-11T16:20:33Z","timestamp":1783786833301,"version":"3.55.0"},"reference-count":28,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,1,11]],"date-time":"2005-01-11T00:00:00Z","timestamp":1105401600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Chromosomes &amp;amp; Cancer"],"published-print":{"date-parts":[[2005,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Fanconi anemia (FA) is a rare autosomal recessive disorder characterized by congenital and developmental abnormalities, hypersensitivity to DNA cross\u2010linking agents such as mitomycin C (MMC), and strong predisposition to acute myeloid leukemia (AML). In this article, we describe clinical and molecular findings in a boy with a severe FA phenotype who developed AML by the age of 2. Although he lacked a strong family history of cancer, he was subsequently shown to carry biallelic mutations in the <jats:italic>FANCD1\/BRCA2<\/jats:italic> gene. These included an IVS7 splice\u2010site mutation, which is strongly associated with early AML in homozygous or compound heterozygous carrier status in FA\u2010D1 patients. Myeloid leukemia cells from this patient have been maintained in culture for more than 1 year and have been designated as the SB1690CB cell line. Growth of SB1690CB is dependent on granulocyte macrophage colony stimulating factor or interleukin\u20103. This cell line has retained its MMC sensitivity and has undergone further spontaneous changes in the spectrum of cytogenetic aberrations compared with the primary leukemia. This is the second AML cell line derived from an FA\u2010D1 patient and the first proof that malignant clones arising in FA patients can retain inherited MMC sensitivity. As FA\u2010derived malignancies are normally not very responsive to treatment, this implies there are important mechanisms of acquiring correction of the cellular FA phenotype that would explain the poor chemoresponsiveness observed in FA\u2010associated malignancies and might also play a role in the initiation and progression of cancer in the general population. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/gcc.20153","type":"journal-article","created":{"date-parts":[[2005,1,11]],"date-time":"2005-01-11T17:17:32Z","timestamp":1105463852000},"page":"404-415","source":"Crossref","is-referenced-by-count":25,"title":["A cross\u2010linker\u2010sensitive myeloid leukemia cell line from a 2\u2010year\u2010old boy with severe Fanconi anemia and biallelic <i>FANCD1<\/i>\/<i>BRCA2<\/i> mutations"],"prefix":"10.1002","volume":"42","author":[{"given":"Stefan","family":"Meyer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William D.","family":"Fergusson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anneke B.","family":"Oostra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annette L.","family":"Medhurst","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Quinten","family":"Waisfisz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johan P.","family":"de Winter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fei","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Trevor F.","family":"Carr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill","family":"Clayton\u2010Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tara","family":"Clancy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mike","family":"Green","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Barber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Osborn B.","family":"Eden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew M.","family":"Will","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans","family":"Joenje","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G. Malcolm","family":"Taylor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,1,11]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8652(199610)53:2<99::AID-AJH7>3.0.CO;2-Z"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrc970"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1080\/07853890310012094"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.21.2591"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(01)00173-3"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2003-06-1970"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/path.1450"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1073834"},{"key":"e_1_2_6_10_1","first-page":"2688","article-title":"Genetic reversion in an acute myelogenous leukemia cell line from a Fanconi anemia patient with biallelic mutations in BRCA2","volume":"63","author":"Ikeda H","year":"2003","journal-title":"Cancer Res"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V86.6.2156.bloodjournal8662156"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/35076590"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1088759"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2003-02-0567"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2003-08-2915"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.23.10.3417-3426.2003"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1241"},{"key":"e_1_2_6_18_1","volume-title":"An international system for human cytogenetic nomenclature","author":"ISCN","year":"1995"},{"key":"e_1_2_6_19_1","series-title":"Methods in enzymology","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1016\/0076-6879(87)55033-9","author":"Myers RM","year":"1987"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncb879"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/djg072"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1159\/000076289"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0145-2126(96)00132-4"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2002-01-0278"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(02)00747-X"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.1.1"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2003-09-3138"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.3.413"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2000.02450.x"}],"container-title":["Genes, Chromosomes and Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fgcc.20153","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/gcc.20153","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T23:39:11Z","timestamp":1700177951000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/gcc.20153"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,1,11]]},"references-count":28,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2005,4]]}},"alternative-id":["10.1002\/gcc.20153"],"URL":"https:\/\/doi.org\/10.1002\/gcc.20153","archive":["Portico"],"relation":{},"ISSN":["1045-2257","1098-2264"],"issn-type":[{"value":"1045-2257","type":"print"},{"value":"1098-2264","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,1,11]]}}}