Table 3 Clinicopathological features of myeloid neoplasm in setting of sickle cell disease (pooled previously reported and present cases)
No | Sex | Age (Y) | Hb type | Treatment for SCD | Interval between Tx and MN (Y) | Dysplasia | Chromosomal analysis | FISH | Molecular tests | Diagnosis and classification | Treatment for MN | Follow-up (M) | Outcome | Published year |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | M | 49 | SS | Transfusion, HU (1000–1500 mg/d) | 14 | Trilineage | Complex with del(17p),del(5)(q13;q33) | del(5q31), del(17p13.1) | NA | MDS/AML (M6) | Chemotherapy (AraC+VP-16) | 24 | Died | 2015 |
2 | M | 55 | SS | Supportive care | NA | G, E | Complex with −5,−7, del(17p) with clonal evolution | NA | NA | MDS-EB1 | Chemotherapy (NA) | NA | NA | 2014 |
3 | F | 42 | SS | HU | 6 | NA | NA | NA | NA | AML | Chemotherapy (AraC + IDA) | 1.3 | Died | 2000 |
4 | M | 41 | SS | HU (1500–2000 mg/d), Transfusion | 15 | E, Meg | 42,XY,−3, + der(5)t(5;18), del(7)(q21),add(8)(p23), der(9)t(9;14),−11,add(12)(p13),−13,del(14)(q11), −17,add(18)(q22),der(18) t(11;18),der(19)t(5;19) | NA | NA | MDS-EB2/AML | Chemotherapy (AraC + IDA) | 6 | Died | 2012 |
5 | M | 33 | SS | HU (9–18 mg/kg/d), Transfusion | 4 | E, Meg | 44–46,XY,rea(5q),del(7q), −15,−16,−17,−18,−19,−20, −21,−22,-Y,mar(5) | NA | NA | AML (M6) | Chemotherapy (AraC + IDA), HSCT | 9 | Died | 2011 |
6 | M | 38 | SS | Supportive care | NA | NA | 46,XY, t(9;22)(q34;q11.2) | NA | NA | CML | NA | NA | NA | 2005 |
7 | F | 29 | SS | HU | 7 | G | 46,XX, t(9;22)(q34;q11.2) | BCR/ABL1 | NA | CML | Imatinib | 72 | Alive | 2014 |
8 | F | 17 | S/β0 | Supportive care | NA | NA | 46,XX,t(9;22)(q34;q11.2) | NA | BCR/ABL | CML | Imatinib | NA | NA | 2011 |
9 | M | 28 | SS | Supportive care | NA | NA | 46,XY,t(9;22)(q34;q11.2) | NA | BCR/ABL | CML | Imatinib | NA | NA | 2011 |
10 | F | 31 | SS | HU (1000–1500 mg/d), transfusion, HSCT | >5 | M,E | 46,XX,−7, add(5p), del (5q), t(2p23;5p14) | TP53( + ); NRAS( + ); | CMML-2/MDS − > AML | Azacitidine | 12 | Died | 2018 | |
11 | F | 43 | SC | NA | NA | NA | 45,XY,−3, t(3;17), t(3;5), 5q-,−7, + 8,17 P + ,−18–20, + ring, + marker | NA | NA | AML (M1) | Chemotherapy (DA) | 1 | Died | 1986 |
12 | M | 34 | S/β0 | HU 400 mg/day, HSCT, Exchanged transfusion | 9 | E, Meg | 45,XY,−2,der(7)(2pter- > 2p11.2::7p11.1- > 7q22::?2q11.2- > 2qter),inv(9)(p11q13)c [18]/45,idem,? del(20)(q11.2q13.1)[2] | 7q- (76%) | complete loss of graft 2 years before MN | MDS-MLD | Busulfan/fludarabine/ATG, HSCT (matched sibling donor) | 21 | Alive | 2019 |
13 | F | 37 | SS | Exchanged transfusion, Supportive care | NA | Meg | 48,XX,add(1)(p22), + del(1) (q31),del(5)(q15q33),der(6)?t(3;6)(p21;P21),−17, + 3~ 5mar[cp3]/46,XX[1] | 5q- (24%), 5 P + (10%) | TP53(+ ), BCR/ABL(–), JAK2(–), CALR(–), MPL(−) | MDS/MPN-U | Lenalidomide (5 mg/day), IVIG (5 days), prednisone (60 mg/day) | 5 | Alive | 2019 |
14 | F | 59 | SC | HU(500–1500 mg), Supportive care | >20 | Trilineage | 44~ 45,XX,del(4)(p14p16), der(5;7)(p10;p10),−15,−16, add(18)(q21), + 1~ 2mar[10]/44~ 45,idem,add(12)(p13)[6]/43~ 44,idem, + add(4)(p14), -del(4)(p14p16),−12[4] | 5q- (92%), 7q- (93%), BCR/ABL (−) | TP53(+ ), JAK2(−), CALR(−), MPL(−) | MDS/MPN (CMML) | Decitabine | 2 | Died | 2019 |
15 | M | 27 | SS | Exchanged transfusion | NA | NA | 49,XY,t(6;11)(q27;q23), + 3, + 19 + 21[20] | KMT2A (11q23) (55%) | TP53(−) FLT3(−) IDH1/2(−) | AML-MRC | 7 + 3, then 2 + 5, HSCT | 7 | Died | 2019 |
