Myelodysplasia and Mast Cell Leukemia with t(9;22).

INTRODUCTION: Mast cell leukemia (MCL) is a rare variant of systemic mastocytosis. Most cases of mast cell leukemia do not have cytogenics performed. Furthermore, there is no consistent chromosomal abnormality identified in MCL. This is the first reported case of MCL with a (9;22) translocation. CASE REPORT: An 80-year-old female presented with pancytopenia and was diagnosed with MDS. Over time, she required hospitalizations for platelet transfusions with increased frequency. She developed fatigue and weakness along with gastrointestinal symptoms. On exam, she had diffuse abdominal tenderness and a maculopapular rash. Her lab results revealed a new basophilia. A bone marrow biopsy showed 100% cellularity with many aggregates of mast cells. Chromosomal analysis showed t(9;22) with confirmed BCR/ABL1 fusion by fluorescence in situ hybridization (FISH). DISCUSSION: MCL has a poor prognosis due to the aggressive nature of the disease and ineffective therapies. Translocation (9;22) is known to be associated with MDS transformations to acute leukemia; however, this translocation has never been reported in MCL. Further research on the relationship between t(9;22) and MCL could lead to development of improved therapeutic options.

Current approaches and challenges in early detection of breast cancer recurrence.

Early detection of breast cancer recurrence is a key element of follow-up care and surveillance after completion of primary treatment. The goal is to improve survival by detecting and treating recurrent disease while potentially still curable assuming a more effective salvage surgery and treatment. In this review, we present the current guidelines for early detection of recurrent breast cancer in the adjuvant setting. Emphasis is placed on the multidisciplinary approach from surgery, medical oncology, and radiology with a discussion of the challenges faced within each setting.

Future directions for the early detection of recurrent breast cancer.

The main goal of follow-up care after breast cancer treatment is the early detection of disease recurrence. In this review, we emphasize the multidisciplinary approach to this continuity of care from surgery, medical oncology, and radiology. Challenges within each setting are briefly addressed as a means of discussion for the future directions of an effective and efficient surveillance plan of post-treatment breast cancer care.

Future directions for monitoring treatment responses in breast cancer.

In the prior review, we outlined the current standard of care for monitoring treatment responses in breast cancer and discussed the many challenges associated with these strategies. We described the challenges faced in common clinical settings such as the adjuvant setting, neoadjuvant setting, and the metastatic setting. In this review, we will expand upon future directions meant to overcome several of these current challenges. We will also explore several new and promising methods under investigation to enhance how we monitor treatment responses in breast cancer. Furthermore, we will highlight several new technologies and techniques for monitoring breast cancer treatment in the adjuvant, neoadjuvant and metastatic setting.

Current approaches and challenges in monitoring treatment responses in breast cancer.

Monitoring response to treatment is a key element in the management of breast cancer that involves several different viewpoints from surgery, radiology, and medical oncology. In the adjuvant setting, appropriate surgical and pathological evaluation guides adjuvant treatment and follow up care focuses on detecting recurrent disease with the intention of improving long term survival. In the neoadjuvant setting, assessing response to chemotherapy prior to surgery to include evaluation for pathologic response can provide prognostic information to help guide follow up care. In the metastatic setting, for those undergoing treatment, it is crucial to determine responders versus non-responders in order to help guide treatment decisions. In this review, we present the current guidelines for monitoring treatment response in the adjuvant, neoadjuvant, and metastatic setting. In addition, we also discuss challenges that are faced in each setting.

Spontaneous pneumothorax in a teenager with prior congenital pulmonary airway malformation.

Congenital pulmonary airway malformation (CPAM), previously referred to as congenital cystic adenomatoid malformation (CCAM), is a developmental malformation of the lower respiratory tract and the most commonly reported congenital lung lesion. Affected patients typically present with respiratory distress in the neonatal period from expanding cysts and resulting compression of surrounding lung parenchyma. However, some patients also remain asymptomatic until later in life. In this report, we present a case of CPAM requiring emergent left lower lobectomy at the first day of life that remained asymptomatic until the patient developed a spontaneous pneumothorax 18 years later. Our patient's presentation with an isolated spontaneous pneumothorax at age 18 does not appear to have been previously reported. In addition, there are several aspects of this case that represent atypical features of CPAM. After an extensive literature search, few reports exist describing any long-term complications of CPAM following neonatal lobectomy. Chest imaging in our patient demonstrated residual left basilar bullae and there was a moderate fixed obstructive/restrictive defect on pulmonary function testing. His risk for recurrent pneumothorax or infectious complications is unknown based on minimal published information on long-term outcomes or complications in patients with resected CPAM lesions. We conclude that follow up of all CPAM patients should include an evaluation for evidence of residual lung disease both with spirometric testing and chest imaging. Furthermore, concern for infectious complications or symptomatic obstructive lung disease should likewise be considered.