RESUMO
Patients with rare, undiagnosed, or genetic disease (RUGD) often undergo years of serial testing, commonly referred to as the "diagnostic odyssey". Patients in resource-limited areas face even greater challenges-a definitive diagnosis may never be reached due to difficulties in gaining access to clinicians, appropriate specialists, and diagnostic testing. Here, we report on a collaboration of the Illumina iHope Program with the Foundation for the Children of the Californias and Hospital Infantil de Las Californias, to enable deployment of clinical whole genome sequencing (cWGS) as first-tier test in a resource-limited dysmorphology clinic in northern Mexico. A total of 60 probands who were followed for a suspected genetic diagnosis and clinically unresolved after expert examination were tested with cWGS, and the ordering clinicians completed a semi-structured survey to investigate change in clinical management resulting from cWGS findings. Clinically significant genomic findings were identified in 68.3% (n = 41) of probands. No recurrent molecular diagnoses were observed. Copy number variants or gross chromosomal abnormalities accounted for 48.8% (n = 20) of the diagnosed cases, including a mosaic trisomy and suspected derivative chromosomes. A qualitative assessment of clinical management revealed 48.8% (n = 20) of those diagnosed had a change in clinical course based on their cWGS results, despite resource limitations. These data suggest that a cWGS first-tier testing approach can benefit patients with suspected genetic disorders.
RESUMO
Primary cardiac osteosarcoma is a rare and aggressive neoplasm that can be difficult to diagnose. We report a case of a previously healthy 49-year-old woman who presented with dyspnea, atrial flutter, and heart failure. A mass was visualized in her left atrium by echocardiography and cardiac computed tomography, and the diagnosis of cardiac myxoma was raised. The patient subsequently underwent surgical resection of the mass and atrial reconstruction. Surprisingly, histological and immunohistological analyses revealed the mass to be an osteosarcoma. The patient received chemotherapy and radiotherapy. Eight months later, she has shown evidence of local recurrence. We briefly discuss primary osteosarcomas in the cardiac cavity and their management.
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El Linfoma Primario de Páncreas es una enfermedad rara, representando el 1 % de todos los linfomas de presentación extranodal y el 0,5% de todas las masas pancreáticas. Menos de 150 casos han sido reportados en la literatura en ingles, los cuales son generalmente linfomas de células tipo B. Los linfomas de celulas T, representan aproximadamente el 4% de los linfomas primarios de pancreas y la supervivencia a los 5 años es del 0%. Reportamos el caso de una mujer de 28 años de edad que se presento a la emergencia con una colangitis aguda severa y una historia insidiosa de baja de peso e icteria obstructiva. La tomografía revelo una lesión tumoral heterogénea, difusa en cabeza de páncreas asi como dilatación leve del conducto pancreático, dilatación de vía biliar intra y extra-hepatica, no adenopatías retroperitoneales y sin infiltración hepática ni esplénica. Se realizo una autopsia dirigida y los estudios histopatologicos confirmaron un linfoma no Hodgkin de células T, CD3 + CD20-.
Primary pancreatic lymphomas (PPL) are rare tumors, comprising 1% of extra-nodal lymphomas and 0.5% of all pancreatic masses. Fewer than 150 cases have been reported worldwide, which most commonly are large B cell lymphomas. T cell lymphomas comprise 4% of all PPL and present a 5-year survival rate of 0%. We report the case of a 28 year-old peruvian woman who presented with a fatal acute cholangitis and a history of insidious weight loss and obstructive jaundice. The CT scan revaled a diffuse heterogeneus mass in the head of the pancreas along with a mildly dilated pancreatic duct and dilated intra and extra-hepatic bile ducts, no liver, splenic involvement, or retroperitoneal adenopathies were evident. An autopsy was performed and the histopathologic investigation confirmed a T cell non-Hodgkin lymphoma, CD3+ CD20-.
Assuntos
Adulto , Feminino , Humanos , Linfoma de Células T/diagnóstico , Neoplasias Pancreáticas/diagnóstico , Evolução FatalRESUMO
Primary pancreatic lymphomas (PPL) are rare tumors, comprising 1% of extra-nodal lymphomas and 0.5% of all pancreatic masses. Fewer than 150 cases have been reported worldwide, which most commonly are large B cell lymphomas. T cell lymphomas comprise 4% of all PPL and present a 5-year survival rate of 0%. We report the case of a 28 year-old Peruvian woman who presented with a fatal acute cholangitis and a history of insidious weight loss and obstructive jaundice. The CT scan revaled a diffuse heterogeneus mass in the head of the pancreas along with a mildly dilated pancreatic duct and dilated intra and extra-hepatic bile ducts, no liver, splenic involvement, or retroperitoneal adenopathies were evident. An autopsy was performed and the histopathologic investigation confirmed a T cell non-Hodgkin lymphoma, CD3+ CD20-.