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Systemic mastocytosis with chronic myelomonocytic leukemia followed by transformation into acute myeloid leukemia
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Abstract
Introduction
Systemic mastocytosis (SM) with an associated hematological neoplasm (SM-AHN) constitutes about 40% of all patients with SM. AHN commonly includes myeloid neoplasms and chronic myelomonocytic leukemia (CMML) is seen in about 30% of these patients.
Case report
A 67-year-old male presented to hematologist with fatigue and significant weight loss. Abdominal ultrasound and computed tomography (CT) detected hepatosplenomegaly, abdominal lymphadenopathy, and ascites. He was anemic with leukocytosis and eosinophilia. Trephine biopsy showed > 30% of spindle-shaped mast cells. The mutation was present. Serum tryptase level was elevated to 62 ng/mL. The patient was diagnosed with aggressive SM and received six cycles of cladribine with partial response. Three years later, he developed severe anemia. Eosinophilia and monocytosis (5.6 × 10/L) were demonstrated in blood film. Hepatosplenomegaly and abdominal lymphadenopathy were also present. Trephine biopsy did not demonstrate the presence of spindle-shaped mast cells, but dysplasia in erythroid and myeloid lineages was evident. The histological result of lymph node biopsy as well as blood and bone marrow findings were in line with CMML. He received hydroxyurea, but he transformed soon into fatal acute monocytic leukemia.
Conclusions
The prognosis of SM-AHN depends on AHN component. Leukemic transformation of AHN component may occur in a proportion of patients.
Abstract
Introduction
Systemic mastocytosis (SM) with an associated hematological neoplasm (SM-AHN) constitutes about 40% of all patients with SM. AHN commonly includes myeloid neoplasms and chronic myelomonocytic leukemia (CMML) is seen in about 30% of these patients.
Case report
A 67-year-old male presented to hematologist with fatigue and significant weight loss. Abdominal ultrasound and computed tomography (CT) detected hepatosplenomegaly, abdominal lymphadenopathy, and ascites. He was anemic with leukocytosis and eosinophilia. Trephine biopsy showed > 30% of spindle-shaped mast cells. The mutation was present. Serum tryptase level was elevated to 62 ng/mL. The patient was diagnosed with aggressive SM and received six cycles of cladribine with partial response. Three years later, he developed severe anemia. Eosinophilia and monocytosis (5.6 × 10/L) were demonstrated in blood film. Hepatosplenomegaly and abdominal lymphadenopathy were also present. Trephine biopsy did not demonstrate the presence of spindle-shaped mast cells, but dysplasia in erythroid and myeloid lineages was evident. The histological result of lymph node biopsy as well as blood and bone marrow findings were in line with CMML. He received hydroxyurea, but he transformed soon into fatal acute monocytic leukemia.
Conclusions
The prognosis of SM-AHN depends on AHN component. Leukemic transformation of AHN component may occur in a proportion of patients.
Keywords
advanced systemic mastocytosis; systemic mastocytosis with an associated hematological neoplasm; chronic myelomonocytic leukemia; cladribine; Array
About this articleTitle
Systemic mastocytosis with chronic myelomonocytic leukemia followed by transformation into acute myeloid leukemia
Journal
Issue
Pages
51-55
Published online
2020-03-01
DOI
10.2478/ahp-2020-0011
Bibliographic record
Acta Haematol Pol 2020;51(1):51-55.
Keywords
advanced systemic mastocytosis
systemic mastocytosis with an associated hematological neoplasm
chronic myelomonocytic leukemia
cladribine
Array
Authors
Marta Panz-Klapuch
Krzysztof Woźniczka
Anna Koclęga
Anna Kopińska
Kinga Boral
Iwona Grygoruk-Wiśniowska
Grzegorz Helbig