{"id":1659,"date":"2026-01-24T08:35:20","date_gmt":"2026-01-24T08:35:20","guid":{"rendered":"https:\/\/peaceful-mccarthy.213-158-90-25.plesk.page\/index.php\/2026\/01\/24\/alp-and-p27kip1-gene-variants-are-not-associated-with-pituitary-adenoma-phenotypes-in-a-large-men1-f\/"},"modified":"2026-01-24T08:35:20","modified_gmt":"2026-01-24T08:35:20","slug":"alp-and-p27kip1-gene-variants-are-not-associated-with-pituitary-adenoma-phenotypes-in-a-large-men1-f","status":"publish","type":"post","link":"https:\/\/peaceful-mccarthy.213-158-90-25.plesk.page\/index.php\/2026\/01\/24\/alp-and-p27kip1-gene-variants-are-not-associated-with-pituitary-adenoma-phenotypes-in-a-large-men1-f\/","title":{"rendered":"AlP AND P27\/KIP1 GENE VARIANTS ARE NOT ASSOCIATED WITH PITUITARY ADENOMA PHENOTYPES IN A LARGE MEN1 FAMILY"},"content":{"rendered":"
Viviane C Longuini*, Rodrigo A. Toledo*, Delmar M. Lourenc;o-Jr*, Flavia Coutinho, Elisangela Quedas, Juliana Arantes, Michelle Buscarilli, Nicole Mambelli, Marcel C Camargo, Maria C Fragoso, Patricia L. Dahia, Sergio P. A. Toledo <\/div>\n
Unidade de Endocrinologia Genetica, LlM-25, Endocrinologia, Hospital das Clinicas do Faculdade de Medicina do Universidade de Sao Paulo, Brazil, *equally contributed <\/div>\n
Background: <\/strong>Two large MEN1 families with a very high prevalence of pituitary tumors were identified: the MEN1Burin from Canada, with 32% of cases having prolactinomas (1) and a seven-generation family from Brazil that we recently described (2). The high prevalence (52%) of pituitary adenomas (PIT) in this Brazilian family suggested the presence of a pituitary variant of MEN1. Whether gene variants are responsible for this phenotype is currently unknown. <\/p>\n

Aims: <\/strong>We aimed to investigate whether two genes recently reported to cause predisposition to familial pituitary adenomas, AlP and P27\/Kip1, playa role in the pituitary phenotype of the MEN1 Brazilian family. <\/p>\n

Methods: <\/strong>Twenty-eight MEN1 patients were fully examined and separated into three groups according to their pituitary phenotype: cases that developed PIT at early ages (group A), cases with invasive PIT (group B), and cases without PIT (group C). The entire coding region and intron\/exon frontiers of the AlP and P27\/Kip1 genes were directly sequenced. <\/p>\n

Results: <\/strong>No mutation was found in either AlP or P27\/ Kip1 genes. One single nucleotide change C> T (rs641 081, Q228K) was found in the AlP gene. Two nucleotide changes, a C> T change in the 5'UTR promoter region (rs59917413) and a G> T change (rs2066827, V1 09L) in exon 1 of the P27\/ Kip1 gene, were identified. The rs641 081 and rs59917413 variants were found in all three groups. The rs2066827 variant segregated with both groups A and C, whereas it was not present in group B. <\/p>\n

Conclusions: <\/strong>We concluded that high frequency, aggressiveness, and time-onset of pituitary disease in this large MEN1 family with a possible pituitary variant could not be attributed to sequence variants of the recently identified pituitary genes AlP and P27\/Kip1.

References: <\/strong><\/p>\n

1. Olufemi SE,etal. Common ancestral mutation in the MEN1 gene is likely responsible for the prolactinoma variant of MEN 1 (MEN1 Burin) in four kindreds from Newfoundland. Human Mutation 1998 11 264-269.
2. Louren~o-Jr O.M. et al. Multiple endocrine neoplasia type 1 in Brazil: MEN 1 founding mutation, clinical features and bone minerai density profile. submitted, 2008. <\/p>\n

Support:<\/strong> RAT. is recipient of Coordenac;ao de Aperfeic;oamento de Pessoal de Nfvel Superior (CAPES) PhD fellowship. D.M.L is recipient of Fundac;ao Faculdade de Medicina (FFM) pos-doctoral fellowship. <\/div>\n","protected":false},"excerpt":{"rendered":"

Viviane C Longuini*, Rodrigo A. Toledo*, Delmar M. Lourenc;o-Jr*, Flavia Coutinho, Elisangela Quedas, Juliana Arantes, Michelle Buscarilli, Nicole Mambelli, Marcel C Camargo, Maria C Fragoso, Patricia L. Dahia, Sergio P. A. Toledo Unidade de Endocrinologia Genetica, LlM-25, Endocrinologia, Hospital das Clinicas do Faculdade de Medicina do Universidade de Sao Paulo, Brazil, *equally contributed Background: Two Read More<\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[52,2,11],"tags":[],"class_list":["post-1659","post","type-post","status-publish","format-standard","hentry","category-volume-9-issue-2","category-journal-articles","category-volume-9"],"_links":{"self":[{"href":"https:\/\/peaceful-mccarthy.213-158-90-25.plesk.page\/index.php\/wp-json\/wp\/v2\/posts\/1659","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/peaceful-mccarthy.213-158-90-25.plesk.page\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/peaceful-mccarthy.213-158-90-25.plesk.page\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/peaceful-mccarthy.213-158-90-25.plesk.page\/index.php\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/peaceful-mccarthy.213-158-90-25.plesk.page\/index.php\/wp-json\/wp\/v2\/comments?post=1659"}],"version-history":[{"count":0,"href":"https:\/\/peaceful-mccarthy.213-158-90-25.plesk.page\/index.php\/wp-json\/wp\/v2\/posts\/1659\/revisions"}],"wp:attachment":[{"href":"https:\/\/peaceful-mccarthy.213-158-90-25.plesk.page\/index.php\/wp-json\/wp\/v2\/media?parent=1659"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/peaceful-mccarthy.213-158-90-25.plesk.page\/index.php\/wp-json\/wp\/v2\/categories?post=1659"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/peaceful-mccarthy.213-158-90-25.plesk.page\/index.php\/wp-json\/wp\/v2\/tags?post=1659"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}