Diagnosis of MALT Lymphoma from Surveillance Endoscopy of a Patient with a CDH1 Gene Germline Mutation

被引:1
|
作者
Pinto, Claudia [1 ]
Cunha, Ana Luisa [2 ]
Rodrigues, Angelo [2 ]
Dias, Renata [2 ]
Brandao, Catarina [1 ]
Dinis-Ribeiro, Mario [1 ,3 ]
机构
[1] Portuguese Oncol Inst Porto, Gastroenterol Dept, Rua Dr Antonio Bernardino Almeida 865, P-4200072 Porto, Portugal
[2] Portuguese Oncol Inst Porto, Pathol Dept, Porto, Portugal
[3] Ctr Res Hlth Technol & Informat Syst CINTESIS, Fac Med, Porto, Portugal
关键词
CDH1; protein; Stomach neoplasms; Helicobacter pylori; Marginal zone B-cell lymphoma; DIFFUSE GASTRIC-CANCER; MANAGEMENT; TISSUE;
D O I
10.1159/000514652
中图分类号
R57 [消化系及腹部疾病];
学科分类号
摘要
Carriers of the mutated CDH1 gene have an increased risk of developing early-onset signet-ring cell (diffuse) gastric cancer. We present a case of a young patient with a confirmed mutation of the CDH1 gene, who was diagnosed with a gastric marginal zone B-cell lymphoma (MZL) of mucosa-associated lymphoid tissue (MALT lymphoma) from surveillance endoscopy. He underwent Helicobacter pylori eradication treatment and was subsequently submitted to a total prophylactic gastrectomy. The surgical specimen only revealed foci of signet-ring cell carcinoma (SRCC) in situ without lymphoma signs. We highlight here the occurrence of other pathology in high-risk patients as well as its possible influence on the decision to perform gastrectomy.
引用
收藏
页码:51 / 55
页数:5
相关论文
共 50 条
  • [41] Identification of c.1531C>T Pathogenic Variant in the CDH1 Gene as a Novel Germline Mutation of Hereditary Diffuse Gastric Cancer
    Norero, Enrique
    Alarcon, M. Alejandra
    Hakkaart, Christopher
    de Mayo, Tomas
    Mellado, Cecilia
    Garrido, Marcelo
    Aguayo, Gloria
    Lagos, Marcela
    Torres, Javiera
    Calvo, Alfonso
    Guilford, Parry
    Corvalan, Alejandro H.
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2019, 20 (20)
  • [42] Comparative study of endoscopic surveillance in hereditary diffuse gastric cancer according to CDH1 mutation status
    Mi, Emma Z.
    Mi, Ella Z.
    di Pietro, Massimiliano
    O'Donovan, Maria
    Hardwick, Richard H.
    Richardson, Susan
    Ziauddeen, Hisham
    Fletcher, Paul C.
    Caldas, Carlos
    Tischkowitz, Marc
    Ragunath, Krish
    Fitzgerald, Rebecca C.
    GASTROINTESTINAL ENDOSCOPY, 2018, 87 (02) : 408 - 418
  • [43] Complete Histopathologic Examination of Prophylactic Gastrectomy Specimens for CDH1 Germline Mutation: Is It Warranted in Routine Clinical Practice?
    Karamthandani, Dipti M.
    Yang, Zhaohai
    LABORATORY INVESTIGATION, 2017, 97 : 179A - 179A
  • [44] Absence of germline mono-allelic promoter hypermethylation of the CDH1 gene in gastric cancer patients
    Hidetaka Yamada
    Kazuya Shinmura
    Masanori Goto
    Moriya Iwaizumi
    Hiroyuki Konno
    Hideki Kataoka
    Masami Yamada
    Takachika Ozawa
    Toshihiro Tsuneyoshi
    Fumihiko Tanioka
    Haruhiko Sugimura
    Molecular Cancer, 8
  • [45] Breast Cancer Events Associated with Germline Mutations of the CDH1 Gene (Hereditary Diffuse Gastric Cancer)
    Hebbart, P. C.
    MacMillan, A.
    McCarthy, J.
    Laing, K.
    Wadden, N.
    Green, J.
    Fernandez, B.
    Kwan, A.
    Wirtzfeld, D. A.
    CANCER RESEARCH, 2009, 69 (24) : 532S - 532S
  • [46] Absence of germline mono-allelic promoter hypermethylation of the CDH1 gene in gastric cancer patients
    Yamada, Hidetaka
    Shinmura, Kazuya
    Goto, Masanori
    Iwaizumi, Moriya
    Konno, Hiroyuki
    Kataoka, Hideki
    Yamada, Masami
    Ozawa, Takachika
    Tsuneyoshi, Toshihiro
    Tanioka, Fumihiko
    Sugimura, Haruhiko
    MOLECULAR CANCER, 2009, 8
  • [47] Novel mechanism of a CDH1 splicing mutation in a Korean patient with signet ring cell carcinoma
    Kim, Sollip
    Ki, Chang Seok
    Kim, Kyoung-Mee
    Lee, Myoung-Gun
    Kim, Sehwa
    Bae, Jae-Moon
    Kim, Jong-Won
    BMB REPORTS, 2011, 44 (11) : 725 - 729
  • [48] A Case of Familial Diff use Gastric Cancer as a Result of a Novel CDH1 Gene Mutation
    Rawl, Rebecca
    Brooks, Heather
    Scobey, Martin
    Aravapalli, Amit
    AMERICAN JOURNAL OF GASTROENTEROLOGY, 2012, 107 : S296 - S296
  • [49] Complete histopathologic examination of risk reduction gastrectomy specimens for CDH1 germline mutation: Is it warranted in routine clinical practice?
    Zhang, Qingzhao
    Yang, Zhaohai
    Karamchandani, Dipti M.
    ANNALS OF DIAGNOSTIC PATHOLOGY, 2020, 45
  • [50] Germline likely pathogenic variants in ataxia-telangiectasia-mutated gene in an Iranian family with hereditary diffuse gastric cancer without CDH1 mutation
    Kheirollahi, Majid
    Saneipour, Maryam
    Moridnia, Abbas
    JOURNAL OF CANCER RESEARCH AND THERAPEUTICS, 2021, 17 (06) : 1434 - 1437