RESUMEN
We report the case of a woman in her 50s who underwent, 5 years prior, a total gastrectomy after neoadjuvant chemotherapy for diffuse-type gastric cancer diagnosed during a workup for isolated gastric primary light chain (AL) amyloidosis. At the time of diagnosis, immunoglobulins light chain measurements and bone marrow biopsy were performed to rule out multiple myeloma and came back normal. Three years later, the patient developed systemic amyloidosis involving the heart and the lungs, after which she developed multiple myeloma. Isolated amyloid deposits in the stomach are a rare finding. While AL amyloidosis is frequently found in concomitance with multiple myeloma, late progression of primary AL amyloidosis to systemic amyloidosis and multiple myeloma is uncommon.
Asunto(s)
Amiloidosis , Amiloidosis de Cadenas Ligeras de las Inmunoglobulinas , Linitis Plástica , Mieloma Múltiple , Neoplasias Gástricas , Femenino , Humanos , Mieloma Múltiple/complicaciones , Mieloma Múltiple/diagnóstico , Mieloma Múltiple/tratamiento farmacológico , Amiloidosis de Cadenas Ligeras de las Inmunoglobulinas/complicaciones , Amiloidosis de Cadenas Ligeras de las Inmunoglobulinas/diagnóstico , Linitis Plástica/complicaciones , Linitis Plástica/diagnóstico , Amiloidosis/complicaciones , Amiloidosis/diagnóstico , Amiloidosis/patología , Neoplasias Gástricas/complicaciones , Neoplasias Gástricas/diagnósticoRESUMEN
Bladder cancer (BC) is the most common cancer involving the urinary system and the ninth most common cancer worldwide. Tobacco smoking is the most important environmental risk factor of BC. Several single nucleotide polymorphisms have been validated by genome-wide association studies as genetic risk factors for BC. However, the identification of DNA mismatch-repair genes, including MSH2 in Lynch syndrome and MUTYH in MUTYH-associated polyposis, raises the possibility of monogenic hereditary forms of BC. Moreover, other genetic mutations may play a key role in familial and hereditary transmissions of BC. Therefore, the aim of this review is to focus on the major hereditary syndromes involved in the development of BC and to report BC genetic susceptibilities established with genome-wide significance level.