Table 2.

Summary of data of the literature regarding MDS/MPN‐RS‐T case reports

Patient	Age (y)	Gender	Hb (g/L)	MCV (fL)	Platelet count (109/L)	Leukocyte count (109/L)	Ring sideroblasts (%)	Erythroid dysplasia	Megakaryocytic dysplasia	Karyotype	JAK2V617F	MPLW515K/L	CALR	SF3B1	First treatment	Evolution after first treatment	Second treatment	Evolution after second treatment	Third treatment	Evolution after third treatment	Citation
1	81	F	79	108	1677	10	86	Yes	Atypical megakaryocytes	Normal	Yes (qPCR) 19% load	N/A	N/A	N/A	EPO	EPO only temporally successful After 2 y: chronic pulmonary embolism	Hydroxyurea 500 mg 3×/d 2 wk	Reduced platelet count Transfusion dependency	Lenalidomide 5 mg daily	Platelets: 100 × 109/L Transfusion independent Hb almost normalized JAK2V617F burden 0.8%	9
2	60	M	69	88	1592	12.7	98	Yes	Marked Hyperlobulated nuclei	Normal	Yes (qPCR) 32,3% load	N/A	N/A	N/A	Pyridoxine Anabolic steroids	Transfusion need	Lenalidomide 10 mg daily	3 RBC in 6 mo Plt: 680 × 109/L JAK2V617F burden unchanged	N/A	N/A	9
3	47	F	112	N/A	700	N/A	25‐45	Yes		Normal	Yes	N/A	N/A	N/A	Hydroxyurea	Minor reduction of spleen size Worsening of anemia, RBC transfusion	Lenalidomide 10 mg daily 21 d/28	Pancytopenia, Increased transfusion requirement Grade 3 BM fibrosis	Allogeneic SCT	Graft lost Transfusion dependency Clonal evolution Death due to sepsis	10
4	84	F	77	N	1515	N/A	90	Yes	Numerous atypical megakaryocytes Hypolobulated nuclei	5q‐ (1 mitosis) Not confirmed by FISH	Yes 22% load	N/A	N/A	Unmutated	Transfusion Lenalidomide 10 mg daily	Platelets: 281 × 109/L Transfusion independency BM normalization JAK2V617F burden <2%	N/A	N/A	N/A	N/A	11
5	39	F	82	122	1024	5.66	44	Yes	Highly atypical megakaryocytes Hyperlobulated nuclei	t(2;3)(p23;q29)	No (RT‐qPCR)	No	N/A	N/A	Hydroxyurea 1000 mg/d α‐interferon 3 M units 2×/wk	Reduced platelet count but worse anemia Transfusion dependence (4 units RBC/4 wk)	Hydroxyurea 500 mg 1×/d Pyridoxine Steroids EPO	Failure	Lenalidomide 5 mg daily 7 mo	Platelet drop 363 × 109/L Hemoglobin: 90 g/L Transfusion independent Normal BM	12
6	58	M	98	N/A	1163	N/A	30	Yes	Large hyperlobulated nuclei	Normal FISH neg.	Yes (AS‐PCR)	N/A	N/A	N/A	Hydroxyurea 500 mg daily	Mild decrease of hemoglobin 83 g/L without efficacy	+ steroids EPO 40 000 units weekly	Inefficacy Transfusion dependency	Lenalidomide 10 mg daily 21 d/28	Transfusion independent; Hb > 9 g/dL Plt < 600 × 109/L	13
7	68	F	61	N/A	1257	N/A	Positive	Yes	Megakaryocytic hyperplasia	Normal	No	No	Mutated	Mutated	Transfusion Iron supplementation	Symptoms improvement Thrombocytosis persistence Transfusion dependency	Lenalidomide 10 mg daily	Platelets: 497 × 109/L Lenalidomide stopped because of severe nausea and anorexia. Platelets: 856 × 109/L	Lenalidomide 5 mg daily	No toxicity Platelets: 351 × 109/L Hemoglobin: 133 g/L No adverse events	14
8	49	M	107	93	935	9.2	65	Yes	Yes	Normal	Yes, allele burden 74%	No	No	Yes, allele burden 46%	Lenalidomide 10 mg daily	Decrease of platelet count to 585 × 109/L. Stop lenalidomide after 8 mo due to loss of response	N/A	N/A	N/A	N/A	15
9	73	M	67	93.8	669	7.7	25	Yes	Yes	Normal	Yes, allele burden 40%	No	No	Yes, allele burden 25%	EPO	Transfusion dependency	Lenalidomide 10 mg daily	Transfusion independency Platelet count lowered to 470 × 109/L Stop after 17 mo due to loss of response	N/A	N/A	15
10	85	F	68	88	1203	3	45	N/A	N/A	Normal	No	No	No	Yes, allele burden 44%	EPO, hydroxyurea, anagrelide	Transfusion dependency Suboptimal response	Lenalidomide 5 mg daily	Platelet count decrease: 558 × 109/L Transfusion dependence	N/A	N/A	15
11	78	F	85	92	743	6.4	64	Yes	Marked	Normal	No	No	Unmutated	Mutated	Transfusion 1 y	Increased transfusion dependency	Lenalidomide 5 mg daily 21 d/28	Platelets: 150 × 109/L Hb:80‐100 g/L – RBC requirement drastically reduced	N/A	N/A	Current work
12	58	F	114	97	710	7.4	24	Yes	Marked	Normal	No	N/A	N/A	N/A	Watch and wait	Marked increase in the platelet count: 2000 × 109/L	Hydroxyurea 500 mg/d	Platelet count 3106 × 109/L Hemoglobin: 84 g/L EPO 1×/wk Stop hydroxyurea	Lenalidomide 5 then 10 mg daily 21 d/28	Platelets: 760 × 109/L Hemoglobin: 118 g/L EPO maintained every 2 wk	Current work

Abbreviations: AS‐PCR, allele‐specific polymerase chain reaction; BM, bone marrow; EPO, erythropoietin; F, female; Hb, hemoglobin; M, male; MCV, mean corpuscular volume; N, normal; N/A, non‐available; Plt, platelets; RBC, red blood cells; SCT, stem cell transplantation; y, years.