RESUMO
Myelodysplastic syndrome (MDS) is characterized by failure to initiate hematopoiesis or impaired maturation of cells, often presenting with pancytopenias with or without associated fatigue, infections, or inappropriate bleeding and bruising. Karyotype analyses of MDS patients commonly show deletion of the q arm of chromosome 7, suggesting loss of this region is likely implicated in the insufficient hematopoiesis seen in MDS. The predisposition to deletion of 7q is commonly inherited, with clinical presentation in early childhood associated with pancytopenia or hematological malignancy. In this case, we present a 66-year-old female who was incidentally found to be pancytopenic in the emergency department while being evaluated for dyspnea, with a bone marrow biopsy later confirming a diagnosis of MDS with monosomy 7. Sporadic loss of 7q can occur at any stage in life without any family history of hematological disease. Our patient has no known personal or family history of MDS, with normal blood counts during hospitalization three years prior, suggesting de novo loss of 7q occurring at greater than 60 years of age.
RESUMO
Lung cancer is the leading cause of cancer deaths in the United States. Efforts to decrease the number of deaths over the last decade have included the publication of guidelines by the United States Preventive Services Task Force (USPSTF) recommending annual low-dose computed tomography (LDCT) scanning in patients meeting specific criteria in order to facilitate the detection and classification of potential cancers, allowing for earlier and possibly curative intervention. Unfortunately, not every patient who meets these criteria will receive LDCT surveillance due to low socioeconomic status, geographic barriers, and limited access to healthcare related to the growing shortage of primary care physicians. We describe a case in which a patient located in a rural southeastern region of the United States presented to the emergency room with a one-week history of fevers, cough, and shortness of breath. Chest imaging revealed findings consistent with community-acquired pneumonia (CAP). He had over a 30-pack-year history of smoking cigarettes and fit the additional criteria within the USPSTF recommendations for annual LDCT scans for lung cancer screening though no screening records were found. While being treated for CAP as an inpatient, the decision was made to perform additional imaging of the patient's left hip, as he had been having increasing pain during the hospital stay. A mass lesion was seen on computed tomography (CT) scan in the posterior acetabular roof, prompting additional imaging and biopsy, which led to findings consistent with stage IV metastatic pulmonary adenocarcinoma. While improvements in both imaging and classification of potentially malignant pulmonary nodules and masses have been observed since the USPSTF recommendations were first released in 2013 and with the 2021 update, rural populations with high-risk patients who fit the criteria for LDCT scanning remain vulnerable to non-screening. This patient may have benefitted from annual LDCT screening for lung cancer. Encouraging primary care physicians to not only screen for current tobacco use but also to have necessary resources on hand in clinics to arrange for timely and appropriate screening appointments and follow-up visits is integral to improving the detection and early management of lung cancer. System-wide implementation of actions that may be carried out on multiple levels of care might provide both practitioners and patients with additional tools needed in a rural setting to decrease the number of lung cancer deaths.