Limits...
Mastocytosis among elderly patients

View Article: PubMed Central - PubMed

ABSTRACT

Mastocytosis is a heterogeneous group of diseases with a young median age at diagnosis. Usually indolent and self-limited in childhood, the disease can exhibit aggressive progression in mid-adulthood. Our objectives were to describe the characteristics of the disease when diagnosed among elderly patients, for which rare data are available.

The French Reference Center conducted a retrospective multicenter study on 53 patients with mastocytosis >69 years of age, to describe their clinical, biological, and genetic features.

The median age of our cohort of patients was 75 years. Mastocytosis variants included were cutaneous (n = 1), indolent systemic (n = 5), aggressive systemic (n = 11), associated with a hematological non-mast cell disease (n = 34), and mast cell leukemia (n = 2). Clinical manifestations were predominantly mast cell activation symptoms (75.5%), poor performance status (50.9%), hepatosplenomegaly (50.9%), skin involvement (49.1%), osteoporosis (47.2%), and portal hypertension and ascites (26.4%). The main biological features were anemia (79.2%), thrombocytopenia (50.9%), leucopenia (20.8%), and liver enzyme abnormalities (32.1%). Of the 40 patients tested, 34 (85%), 2 (5%), and 4 (10%) exhibited the KIT D816V mutant, other KIT mutations and the wild-type form of the KIT gene, respectively. Additional sequencing detected significant genetic defects in 17 of 26 (65.3%) of the patients with associated hematological non-mast cell disease, including TET2, SRSF2, IDH2, and ASLX1 mutations. Death occurred in 19 (35.8%) patients, within a median delay of 9 months, despite the different treatment options available.

Mastocytosis among elderly patients has a challenging early detection, rare skin involvement, and/or limited skin disease; it is heterogeneous and has often an aggressive presentation with nonfortuitous associated myeloid lineage malignant clones, and thus a poor overall prognosis.

No MeSH data available.


Related in: MedlinePlus

WHO classification of the cohort of 53 elderly mastocytosis patients.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
getmorefigures.php?uid=PMC4998476&req=5

Figure 1: WHO classification of the cohort of 53 elderly mastocytosis patients.

Mentions: Among the 53 elderly patients, the variants of mastocytosis were indolent SM (ISM, n = 5; 9.4%), aggressive SM (ASM, n = 11; 20.8%), ASM with associated hematologic non-MC lineage disease (ASM-AHNMD, n = 34; 64.2%), cutaneous mastocytosis (CM, n = 1; 1.9%), and mast cell leukemia (MCL, n = 2; 3.8%) (Fig. 1). The main clinical and biological features of the elderly patients are depicted in Table 1. The clinical presentation was very heterogeneous. A total of 50.9% (n = 27) of the patients displayed poor performance status, 75.5% (n = 40) presented with mast cell activation symptoms (flush n = 17, pruritus n = 19, diarrhea n = 12, abdominal pain n = 14); 24.5% (n = 13) had lymphadenopathy, 50.9% (n = 27) had hepatosplenomegaly, including 4 patients with only hepatomegaly and 6 patients with only splenomegaly. Ascites or other signs of portal hypertension-related disturbances were observed in 26.4% of patients (n = 14). Skin involvement was observed among 49% (n = 26) patients, mostly urticaria pigmentosa (UP) (n = 24) or less frequently telangiectasia macularis eruptiva persistans (TMEP) (n = 2). Forty-seven percent (n = 25) of patients displayed osteoporosis, including 12 of 25 (48%) patients with fractures (mostly at vertebral sites). Few patients (11.3%) displayed B findings as defined by the WHO classification, whereas C findings were documented in almost all patients (88.7%). Two patients affected by chronic eosinophilia (>1.7 × 109/L) exhibited specific patterns of cardiac and pulmonary involvement, respectively. Considering the clinical history and the onset of characteristic signs displayed by patients, the median time to diagnosis was estimated at 9 months, with extremes ranging from 3 to 12 months from the beginning of systemic signs, because some patients displayed cutaneous lesions for many years that were not linked to mastocytosis.


Mastocytosis among elderly patients
WHO classification of the cohort of 53 elderly mastocytosis patients.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4998476&req=5

Figure 1: WHO classification of the cohort of 53 elderly mastocytosis patients.
Mentions: Among the 53 elderly patients, the variants of mastocytosis were indolent SM (ISM, n = 5; 9.4%), aggressive SM (ASM, n = 11; 20.8%), ASM with associated hematologic non-MC lineage disease (ASM-AHNMD, n = 34; 64.2%), cutaneous mastocytosis (CM, n = 1; 1.9%), and mast cell leukemia (MCL, n = 2; 3.8%) (Fig. 1). The main clinical and biological features of the elderly patients are depicted in Table 1. The clinical presentation was very heterogeneous. A total of 50.9% (n = 27) of the patients displayed poor performance status, 75.5% (n = 40) presented with mast cell activation symptoms (flush n = 17, pruritus n = 19, diarrhea n = 12, abdominal pain n = 14); 24.5% (n = 13) had lymphadenopathy, 50.9% (n = 27) had hepatosplenomegaly, including 4 patients with only hepatomegaly and 6 patients with only splenomegaly. Ascites or other signs of portal hypertension-related disturbances were observed in 26.4% of patients (n = 14). Skin involvement was observed among 49% (n = 26) patients, mostly urticaria pigmentosa (UP) (n = 24) or less frequently telangiectasia macularis eruptiva persistans (TMEP) (n = 2). Forty-seven percent (n = 25) of patients displayed osteoporosis, including 12 of 25 (48%) patients with fractures (mostly at vertebral sites). Few patients (11.3%) displayed B findings as defined by the WHO classification, whereas C findings were documented in almost all patients (88.7%). Two patients affected by chronic eosinophilia (>1.7 × 109/L) exhibited specific patterns of cardiac and pulmonary involvement, respectively. Considering the clinical history and the onset of characteristic signs displayed by patients, the median time to diagnosis was estimated at 9 months, with extremes ranging from 3 to 12 months from the beginning of systemic signs, because some patients displayed cutaneous lesions for many years that were not linked to mastocytosis.

View Article: PubMed Central - PubMed

ABSTRACT

Mastocytosis is a heterogeneous group of diseases with a young median age at diagnosis. Usually indolent and self-limited in childhood, the disease can exhibit aggressive progression in mid-adulthood. Our objectives were to describe the characteristics of the disease when diagnosed among elderly patients, for which rare data are available.

The French Reference Center conducted a retrospective multicenter study on 53 patients with mastocytosis >69 years of age, to describe their clinical, biological, and genetic features.

The median age of our cohort of patients was 75 years. Mastocytosis variants included were cutaneous (n = 1), indolent systemic (n = 5), aggressive systemic (n = 11), associated with a hematological non-mast cell disease (n = 34), and mast cell leukemia (n = 2). Clinical manifestations were predominantly mast cell activation symptoms (75.5%), poor performance status (50.9%), hepatosplenomegaly (50.9%), skin involvement (49.1%), osteoporosis (47.2%), and portal hypertension and ascites (26.4%). The main biological features were anemia (79.2%), thrombocytopenia (50.9%), leucopenia (20.8%), and liver enzyme abnormalities (32.1%). Of the 40 patients tested, 34 (85%), 2 (5%), and 4 (10%) exhibited the KIT D816V mutant, other KIT mutations and the wild-type form of the KIT gene, respectively. Additional sequencing detected significant genetic defects in 17 of 26 (65.3%) of the patients with associated hematological non-mast cell disease, including TET2, SRSF2, IDH2, and ASLX1 mutations. Death occurred in 19 (35.8%) patients, within a median delay of 9 months, despite the different treatment options available.

Mastocytosis among elderly patients has a challenging early detection, rare skin involvement, and/or limited skin disease; it is heterogeneous and has often an aggressive presentation with nonfortuitous associated myeloid lineage malignant clones, and thus a poor overall prognosis.

No MeSH data available.


Related in: MedlinePlus