Table 2. Clinical and laboratory details... | American Society of Hematology

Table 2.

Clinical and laboratory details of the 10 SMCD-eos patients and 1 UMPD with the CHIC2 deletion

Patient no.	Age, y	Clinical features	Initial clinical diagnosis*	Pathologic diagnosis	Serum tryptase, ng/mL†	Marrow histology	Mast cell phenotype‡
1	46§	Urticaria pigmentosa, pruritus, diarrhea, weight loss, splenomegaly	SMCD	SMCD	144	Paratrabecular/perivascular and loose interstitial aggregates of dysplastic mast cells; reticulin fibrosis	CD117⁺/CD25
2	30§	Bone pain, headache, leukocytosis, cytopenia, splenomegaly	UMPD	SMCD	ND	Paratrabecular/perivascular and loose interstitial aggregates of dysplastic mast cells; reticulin fibrosis	CD117⁺/CD25
3	26§	Endocardial fibrosis, ventricular thrombosis, valvular heart disease, congestive hear failure	SMCD	SMCD	ND	Perivascular and loose interstitial aggregates of dysplastic mast cells, reticulin fibrosis	ND
4	45§	Bone pain, weight loss, constitutional symptoms, massive splenomegaly, severe cytopenia	HES	UMPD	ND	No increase in mast cells, reticulin fibrosis, panhyperplasia	ND
5	72	Diarrhea, pruritus, severe weight loss, fat malabsorption	SMCD	SMCD	56	Interstitial and focal loose aggregates of dysplastic mast cells	CD117⁺/CD25
6	49	Recurrent syncope, constitutional symptoms, hepatosplenomegaly	HES	SMCD	31	Interstitial loose aggregates of dysplastic mast cells	CD117⁺/CD25
7	51	Congestive heart failure, splenomegaly	HES	SMCD	32.1	Interstitial loose aggregates of dysplastic mast cells	CD117⁺/CD25
8	50	Severe headaches, peripheral neuropathy, stroke	HES	SMCD	ND	Interstitial loose aggregates of dysplastic mast cells	ND
9	40	Cardiomyopathy, pericardial effusion, multiple cerebral infarcts	CEL	SMCD	ND	Interstitial loose aggregates of dysplastic mast cells	ND
10	40	Cardiomyopathy	HES	SMCD	ND	Interstitial loose aggregates of dysplastic mast cells	ND
11	26	Pruritus, splenomegaly	HES	SMCD	51	Interstitial loose aggregates of dysplastic mast cells	ND

Patient no.	Age, y	Clinical features	Initial clinical diagnosis*	Pathologic diagnosis	Serum tryptase, ng/mL†	Marrow histology	Mast cell phenotype‡
1	46§	Urticaria pigmentosa, pruritus, diarrhea, weight loss, splenomegaly	SMCD	SMCD	144	Paratrabecular/perivascular and loose interstitial aggregates of dysplastic mast cells; reticulin fibrosis	CD117⁺/CD25
2	30§	Bone pain, headache, leukocytosis, cytopenia, splenomegaly	UMPD	SMCD	ND	Paratrabecular/perivascular and loose interstitial aggregates of dysplastic mast cells; reticulin fibrosis	CD117⁺/CD25
3	26§	Endocardial fibrosis, ventricular thrombosis, valvular heart disease, congestive hear failure	SMCD	SMCD	ND	Perivascular and loose interstitial aggregates of dysplastic mast cells, reticulin fibrosis	ND
4	45§	Bone pain, weight loss, constitutional symptoms, massive splenomegaly, severe cytopenia	HES	UMPD	ND	No increase in mast cells, reticulin fibrosis, panhyperplasia	ND
5	72	Diarrhea, pruritus, severe weight loss, fat malabsorption	SMCD	SMCD	56	Interstitial and focal loose aggregates of dysplastic mast cells	CD117⁺/CD25
6	49	Recurrent syncope, constitutional symptoms, hepatosplenomegaly	HES	SMCD	31	Interstitial loose aggregates of dysplastic mast cells	CD117⁺/CD25
7	51	Congestive heart failure, splenomegaly	HES	SMCD	32.1	Interstitial loose aggregates of dysplastic mast cells	CD117⁺/CD25
8	50	Severe headaches, peripheral neuropathy, stroke	HES	SMCD	ND	Interstitial loose aggregates of dysplastic mast cells	ND
9	40	Cardiomyopathy, pericardial effusion, multiple cerebral infarcts	CEL	SMCD	ND	Interstitial loose aggregates of dysplastic mast cells	ND
10	40	Cardiomyopathy	HES	SMCD	ND	Interstitial loose aggregates of dysplastic mast cells	ND
11	26	Pruritus, splenomegaly	HES	SMCD	51	Interstitial loose aggregates of dysplastic mast cells	ND

All patients were male.

SMCD indicates systemic mast cell disease; UMPD, unclassified myeloproliferative disorder; ND, not done; HES, hypereosinophilic syndrome; and CEL, chronic eosinophilic leukemia.

Initial diagnosis refers to either external or internal referral diagnosis. World Health Organization (WHO) criteria were used to make WHO diagnosis. All patients had prominent peripheral blood and bone marrow eosinophilia and neither the bcr/abl (10 patients studied) nor the D816V c-kit mutation (10 patients studied) was detected. Bone marrow mast cell infiltration pattern was assessed with the aid of both tryptase and Kit (CD117) staining. Karyotype analysis was normal in all cases but the one with chronic eosinophilic leukemia (CEL).

†

Normal serum tryptase is < 11.5 ng/mL. It should be noted that some of the values were obtained in the presence of corticosteroid therapy.

‡

Normal mast cell immunophenotype profile is CD117⁺/CD25^-/CD2^-.

Both initial and WHO diagnosis made prior to the discovery of the FIPIL1-PDGFRA mutation (ie, diagnosis made between 1994 and 2002).

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