[Characterization of patients with Philadelphia negative myeloproliferative neoplasms and concomitant monoclonal gammopathies: Just coincidence?] / Caracterización de pacientes con Neoplasias mieloproliferativas Philadelphia negativas y Gammapatias monoclonales concomitantes ¿Sólo coincidencia?

Philadelphia negative myeloproliferative neoplasms [MPN Ph (-)] and monoclonal gammopathies (MG) stem from different hematopoietic progenitor lines. The association between both has a frequency between 3 to 14%, and it has been associated with a higher risk of thrombosis. This study aimed to describe the clinical characteristics of patients with both entities at our center. METHODS: Retrospective observational study of case series. The MPN Ph (-) database of our center between 2015 and 2020 was consulted. The clinical records were reviewed, obtaining demographic, clinical, and management determinants. Descriptive statistical analysis was performed. RESULTS: Among 144 patients, 6 patients diagnosed with MG and MPN were found, all of them female. The median age was 71 years at diagnosis of MPN Ph (-) and 70 years at diagnosis of MG. Two were diagnosed concomitantly with both pathologies, in 2 the MG preceded the MPN, and in 2 the MPN was previously diagnosed. No patient has progressed to acute leukemia or myelofibrosis. Regarding the treatments received, all received Hydroxicarbamide, some with aspirin and one with anticoagulation. Of the MGs, one patient with solitary bone plasmacytoma progressed to multiple myeloma, requiring treatment after 2 years. Two had a thrombotic event, both arterials. CONCLUSION: The observed MG frequency of 4% was similar to what was expected for the age of the patients. Although it is noteworthy that 2 had thrombotic events, further studies are needed to evaluate this association.

Carney complex review: Genetic features. / Revisión del complejo de Carney: Aspectos genéticos.

Carney complex is a multiple neoplasia syndrome having endocrine and non-endocrine manifestations. Diagnostic criteria include myxoma, lentigines, and primary pigmented nodular adrenocortical disease, amongst other signs/symptoms. In most cases it is an autosomal dominant disease, and diagnosis therefore requires study and follow-up of the family members. Inactivating mutations of the PRKAR1A gene were identified as the main cause of the disease, although since 2015 other disease-related genes, including PRKACA and PRKACB activating mutations, have also been related with Carney complex. This review will address the genetic aspects related to Carney complex.