Atypical chronic myeloid leukemia (aCML) and chronic neutrophilic leukemia (CNL) are rare hematologic neoplasms characterized by leukocytosis and a hypercellular bone marrow. Although recurrent mutations in the colony-stimulating factor 3 receptor (CSF3R) are frequently observed in patients with (CNL), the mutational landscape in (aCML) is less well-defined. In this report, we describe an 81-year-old male who was diagnosed with aCML. He presented with leukocytosis and anemia but no significant clinical symptoms. Standard laboratory studies revealed the absence of the Philadelphia chromosome. Massively parallel sequencing demonstrated no mutations in CSF3R, but the presence of a heterozygous NRAS-G12D variant (47% allele frequency). The patient was started on treatment with trametinib, an MEK1/2 inhibitor with Food and Drug Administration approval for malignant melanoma. Therapy with trametinib resulted in exceptional improvements in his blood counts and continued disease control with 14 months of follow-up. This case highlights the need for clinical trials evaluating the safety and efficacy of MEK1/2 as a therapeutic target for the treatment of patients with NRAS-mutated aCML/CNL.
The paranasal sinus and major salivary glands are rare primary sites for SCCs. Long-term survival with local therapy in patients with local disease can occur, but in patients with metastatic disease survival mirrors metastatic pulmonary SCC.
Simultaneous elevated levels of ectopic arginine vasopressin (AVP) and ectopic adrenocorticotropin (ACTH) were found in a patient with small cell carcinoma (SCC). The finding of one of these paraendocrine syndromes at the time of diagnosis is common; however, the simultaneous presence of both syndromes has been reported in the literature only on four occasions in the past 25 years. This is the only report in which elevated plasma levels of both hormones are documented in a patient who simultaneously fulfills the criteria for the syndrome associated with each ectopically produced peptide. In the English‐language literature, this is the first case that demonstrates by immunohistochemical staining the presence of both of these hormones in the patient's neoplasm. In addition to the use of radiographs, the presence of paraendocrine disorders can provide a method of monitoring the patient's response to therapy. The levels of ACTH and AVP were assayed during this patient's course and correlated with disease refractory to therapy, resulting in poor survival.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.