69-year-old patient with anemia and massive splenomegaly
- 2024, Volume 43 - Number 1
- Published: June 28, 2024
69-year-old patient with anemia and massive splenomegaly
Cristina Marrero-Cepeda 1, Rosario M.ª Morales 1, Nicolás Valerdiz 2, Eusebio Martín 1, M.ª Teresa Vargas 1, Margarita Jiménez 1, Teresa Caballero-Velázquez 3, Marta Reinoso 1, M.ª Isabel Montero 1, Estrella Carrillo 1, Elena Soria-Saldise 3, José A. Pérez 1, Concepción Prats-Martín 3
1 Unidad de Gestión Clínica de Hematología y Hemoterapia, Hospital Universitario Virgen del Rocío, Sevilla, España; 2 Anatomía Patológica. Hospital Universitario Virgen del Rocío, Sevilla, España; 3 Unidad de Gestión Clínica (UGC) de Hematología y Hemoterapia, Hospital Universitario Virgen del Rocío, Sevilla, España
Cristina Marrero-Cepeda, Rosario M.ª Morales, Nicolás Valerdiz, Eusebio Martín, M.ª Teresa Vargas, Margarita Jiménez, Teresa Caballero-Velázquez, Marta Reinoso, M.ª Isabel Montero, Estrella Carrillo, Elena Soria-Saldise, José A. Pérez, Concepción Prats-Martín
La información completa de afiliaciones y autor de correspondencia está disponible en la versión original en PDF.
*Correspondence: Concepción Prats-Martín, Email not available
Summary
69-year-old patient with anemia and massive splenomegaly diagnosed with primary myelofibrosis (PMF) 13 years earlier. He presented a calreticulin (CALR) mutation and had started treatment with ruxolitinib due to disease progression. Three years after starting treatment, following a prior phase of leukocytosis with basophilia, the patient progressed to acute leukemia with acquisition of a BCR::ABL1 rearrangement, maintaining the CALR mutation. Additionally, the patient acquired a t(12;18) (q21;q21). Overall survival from diagnosis of PMF was 17 years. The acquisition of a BCR::ABL1 rearrangement in CALR-mutated PMF is very rare and has uncertain clinical significance. The initial presentation of the BCR::ABL acquisition as a blast crisis is exceptional. In PMF, the appearance of progressive leukocytosis with basophilia has been associated with progression to acute leukemia and should suggest a possible acquisition of a BCR::ABL1 rearrangement. In this patient, the transformation to a blast crisis could be associated with the presence of a t(12;18) in addition to the t(9;22).
Keywords: Primary myelofibrosis. BCR::ABL1. CALR. Chronic myeloid leukemia. Blast crisis.
