RESUMO
BACKGROUND: Invasive lobular breast cancer (ILC) and lobular carcinoma in situ (LCIS) are characterised by loss of E-cadherin expression. However germline CDH1 mutations are rare in cases of ILC with no family history of hereditary diffuse gastric cancer (HDGC) and have not been described in women with LCIS. METHODS: We screened the CDH1 gene in 50 cases of bilateral LCIS/ILC using Sanger sequencing and MLPA. RESULTS: Sanger sequencing revealed four pathogenic germline mutations, including a novel splicing mutation (c.48+1G>A). The remaining three (c.1465insC, c.1942G>T, c.2398delC) have been previously described. All four cases had bilateral LCIS +/- ILC and no family history of gastric cancer. CONCLUSION: CDH1 germline mutations have not been previously described in women with LCIS. We have shown that germline CDH1 mutations are associated with early onset of bilateral LCIS with or without ILC in women without a family history of gastric cancer. CDH1 mutation screening should be considered in women with early onset of bilateral LCIS/ILC with no family history of HDGC.
Assuntos
Neoplasias da Mama/genética , Caderinas/genética , Carcinoma in Situ/genética , Carcinoma Lobular/genética , Antígenos CD , Sequência de Bases , Neoplasias da Mama/patologia , Carcinoma Lobular/patologia , Feminino , Mutação em Linhagem Germinativa/genética , Humanos , Pessoa de Meia-Idade , Análise de Sequência de DNAAssuntos
Proteína BRCA1/genética , Proteína BRCA2/genética , Genes BRCA1 , Genes BRCA2 , Neoplasias/epidemiologia , Feminino , Humanos , Masculino , Mutação , Neoplasias/genéticaRESUMO
A perilymphatic fistula of a labyrinthine window may initially present with various cochlear or vestibular symptoms. Vestibular perilymph leaks can occur spontaneously with or without hearing loss and are most readily diagnosed by a positive Hennebert's sign. Surgical correction is indicated and should initially consist of grafting of the perilymph leak. A significant incidence of recurrence warrants further investigation of grafting materials and techniques.
Assuntos
Fístula/diagnóstico , Doenças do Labirinto/diagnóstico , Adolescente , Adulto , Idoso , Eletronistagmografia , Feminino , Fístula/etiologia , Fístula/cirurgia , Perda Auditiva/etiologia , Humanos , Doenças do Labirinto/etiologia , Doenças do Labirinto/cirurgia , Masculino , Pessoa de Meia-Idade , Vertigem/etiologiaRESUMO
PROBLEM: In investigating possible immunologic causes of miscarriage, we hypothesized a more frequent maternal immune response in placental tissue in women miscarrying their first pregnancy, compared to woman miscarrying following at least one full-term delivery. METHOD OF STUDY: We reviewed the medical charts of 273 consecutive women who had treatment for miscarriage. After application of the exclusion criteria, 32 patients were selected who had a full-term pregnancy outcome following the index miscarriage. The patients were divided into two groups based on the pregnancy order of the index miscarriage. Group 1 (n = 16) included women who lost their first pregnancy. Group 2 (n = 16) included women who miscarried a pregnancy after at least one full-term delivery. Miscarriage tissue was evaluated for placental and decidual histologic features of uteroplacental vasculopathy and chronic inflammation. RESULTS: Lesions of chronic inflammatory and uteroplacental vasculopathy were generally more common in Group 1 as compared to Group 2, and the presence of more than one of the histopathologic lesions was significantly more frequent in Group 1 (37.5%, 6/16) than in Group 2 (0/16, P = .02, Fisher's Exact). CONCLUSIONS: This study demonstrates more frequent lesions of chronic inflammation and uteroplacental vasculopathy in miscarriage patients with a first pregnancy loss, compared to those patients who have had a pregnancy loss following at least one full-term delivery.