Clinical Oncology Letters
Clinical Oncology Letters
Relato de Caso

Metachronous tumors in a patient with Fanconi’s anemia: case report

Tumores metacrônicos em paciente portadora de Anemia de Fanconi: relato de caso

Luis Eduardo Silva Móz, Daniele Tramontina, Mariana Cartaxo Alves, Natália Helena Valleta, Renan Sordi, Renata Tortato Meneguetti, Cláudia Vaz de Melo Sette, Daniel de Iracema Gomes Cubero, Auro del Giglio

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We present the case of a patient who entered early menopause at age 29 and was diagnosed with two primary tumors, bladder cancer at age 30 and esophageal cancer at 36. She has family history of cancer, since her brother had esophageal cancer at age 29. Given her clinical status, we hypothesized Fanconi anemia, which was diagnosed by the diepoxybutane (DEB) test. The literature contains few case reports on the association between Fanconi anemia and esophageal cancer, and only one regarding its association with bladder cancer.


Fanconi anemia, esophageal cancer, bladder cancer, case report.


Apresentamos um caso de uma paciente que teve menopausa precoce aos 29 anos e foi diagnosticada com dois tumores primários, sendo câncer de bexiga aos 30 anos e câncer de esôfago aos 36 anos. Ela também possui antecedente familiar oncológico, pois o seu irmão teve câncer de esôfago aos 29 anos. Frente ao quadro clínico, aventada a hipótese de Anemia de Fanconi, confirmada pelo DEB teste. Há poucos casos relatados na literatura de associação entre Anemia de Fanconi com câncer de esôfago, sendo encontrado apenas um relato da associação com câncer de bexiga.


Anemia de Fanconi, câncer de esôfago, câncer de bexiga, relato de caso


1. Sachiyo O, Masahiro T, Tsutomu T, et al. A case of superficial esophageal cancer in a Fanconi Anemia patient that was treated successfully by endoscopic submucosal resection. Intern Med. 2019;58(4):1434.18.

2. Petryk A, Shankar RK, Giri N, et al. Endocrine disorders in Fanconi Anemia: recommendations for screening and treatment. J Clin Endocrinol Metab. 2015;100(3):803-11. PMid:25575015.

3. Offit K, Levran O, Mullaney B, et al. Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia. J Natl Cancer Inst. 2003;95(20):1548-51. PMid:14559878.

4. Rosenberg PS, Greene MH, Alter BP. Cancer incidence in persons with Fanconi anemia. Blood. 2003;101(3):822-6. PMid:12393424.

5. Auerbach AD. Fanconi anemia and its diagnosis. Mutat Res. 2009;668(1-2):4-10. PMid:19622403.

6. Auerbach AD. Diagnosis of Fanconi Anemia by Diepoxybutane analysis. Curr Protoc Hum Genet. 2015;85:1-17. PMid:25827349.

7. Hosoya Y, Lefor A, Hirashima Y, et al. Successful treatment of esophageal squamous cell carcinoma in a patient with Fanconi anemia. Jpn J Clin Oncol. 2010;40(8):805-10. PMid:20410055.

8. Kutler DI, Singh B, Satagopan J, et al. A 20-year perspective on the International Fanconi Anemia Registry (IFAR). Blood. 2003;101(4):1249-56. PMid:12393516.

9. Rosenberg PS, Alter BP, Ebell W. Cancer risks in Fanconi anemia: findings from the German Fanconi Anemia Registry. Haematologica. 2008;93(4):511-7. PMid:18322251.

10. Shimamura A, Alter BP. Pathophysiology and management of inherited bone morrow failure syndromes. Blood Rev. 2010;24(3):101-22. PMid:20417588.

11. Itskoviz D, Tamary H, Krasnov T, et al. Endoscopic findings and esophageal cancer incidence among Fanconi Anemia patients participating in an endoscopic surveillance program. Dig Liver Dis. 2019;51(2):242-6. PMid:30249500.

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