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
  • [31] Prophylactic Laparoscopic Total Gastrectomy with Jejunal Pouch Reconstruction in Patients Carrying a CDH1 Germline Mutation
    Haverkamp, L.
    van der Sluis, P. C.
    Ausems, M. G. E. M.
    van der Horst, S.
    Siersema, P. D.
    Ruurda, J. P.
    Offerhaus, G. J. A.
    van Hillegersberg, R.
    JOURNAL OF GASTROINTESTINAL SURGERY, 2015, 19 (12) : 2120 - 2125
  • [32] Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers
    van der Post, Rachel S.
    Vogelaar, Ingrid P.
    Carneiro, Fatima
    Guilford, Parry
    Huntsman, David
    Hoogerbrugge, Nicoline
    Caldas, Carlos
    Schreiber, Karen E. Chelcun
    Hardwick, Richard H.
    Ausems, Margreet G. E. M.
    Bardram, Linda
    Benusiglio, Patrick R.
    Bisseling, Tanya M.
    Blair, Vanessa
    Bleiker, Eveline
    Boussioutas, Alex
    Cats, Annemieke
    Coit, Daniel
    DeGregorio, Lynn
    Figueiredo, Joana
    Ford, James M.
    Heijkoop, Esther
    Hermens, Rosella
    Humar, Bostjan
    Kaurah, Pardeep
    Keller, Gisella
    Lai, Jennifer
    Ligtenberg, Marjolijn J. L.
    O'Donovan, Maria
    Oliveira, Carla
    Pinheiro, Hugo
    Ragunath, Krish
    Rasenberg, Esther
    Richardson, Susan
    Roviello, Franco
    Schackert, Hans
    Seruca, Raquel
    Taylor, Amy
    ter Huurne, Anouk
    Tischkowitz, Marc
    Joe, Sheena Tjon A.
    van Dijck, Benjamin
    van Grieken, Nicole C. T.
    van Hillegersberg, Richard
    van Sandick, Johanna W.
    Vehof, Rianne
    van Krieken, J. Han
    Fitzgerald, Rebecca C.
    JOURNAL OF MEDICAL GENETICS, 2015, 52 (06) : 361 - 374
  • [33] E-Cadherin (CDH1 Gene) Germline Mutations in Gastric Cancer: Evolutions and Innovations
    Corso, Giovanni
    Bonanni, Bernardo
    CANCERS, 2020, 12 (10)
  • [34] Identification of Seven Novel Germline Mutations in the Human E-Cadherin (CDH1) Gene
    More, H.
    Humar, B.
    Weber, W.
    Ward, R.
    Christian, A.
    Lintott, C.
    Graziano, F.
    Ruzzo, A-M.
    Acosta, E.
    Boman, B.
    Harlan, M.
    Ferreira, P.
    Seruca, R.
    Suriano, G.
    Guilford, P.
    HUMAN MUTATION, 2007, 28 (02) : 203
  • [35] A novel mutation in the CDH1 gene in a Spanish family with hereditary diffuse gastric cancer
    Lopez, Maria
    Cervera-Acedo, Cristina
    Santibanez, Paula
    Salazar, Raquel
    Sola, Jesus-Javier
    Dominguez-Garrido, Elena
    SPRINGERPLUS, 2016, 5
  • [36] CDH1 gene mutation, a challenging surgical topic: Case report and literature review
    Maalouf, Hani
    Saber, Toufic
    Ghattas, Souad
    Meguerian-Bedoyan, Zarouhie
    El Rassi, Ziad
    INTERNATIONAL JOURNAL OF SURGERY CASE REPORTS, 2024, 116
  • [37] Robotic Vagus-Sparing Total Gastrectomy for CDH1 Gene Mutation Treatment
    Chan, Daniel L.
    Talbot, Michael L.
    JOVE-JOURNAL OF VISUALIZED EXPERIMENTS, 2023, (202):
  • [38] CDH1 methylation analysis in invasive lobular breast carcinomas with and without gene mutation
    Gonzalez-Martinez, Silvia
    Kajabova, Viera Horvathova
    Perez-Mies, Belen
    Carretero-Barrio, Irene
    Caniego-Casas, Tamara
    Sarrio, David
    Moreno-Bueno, Gema
    Gion, Maria
    Perez-Garcia, Jose
    Cortes, Javier
    Smolkova, Bozena
    Palacios, Jose
    VIRCHOWS ARCHIV, 2024, 485 (02) : 291 - 297
  • [39] In vitro functional assessment of CDH1 germline missense mutations and implications for clinical management of asymptomatic mutation carriers
    Soriano, Gianpaolo
    Carneiro, Fatima
    Oliveira, Carla
    Regateiro, Fernando
    Huntsman, David G.
    Castedo, Sergio
    Machado, Jose Carlos
    Seruca, Raquel
    GASTROENTEROLOGY, 2006, 130 (04) : A417 - A417
  • [40] Complete Histopathologic Examination of Prophylactic Gastrectomy Specimens for CDH1 Germline Mutation: Is It Warranted in Routine Clinical Practice?
    Karamchandani, Dipti M.
    Yang, Zhaohai
    MODERN PATHOLOGY, 2017, 30 : 179A - 179A