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Table 1 Clinical history of the patient together with diagnostic results and treatment

From: A new adult AML case with an extremely complex karyotype, remission and relapse combined with high hyperdiploidy of a normal chromosome set in secondary AML

Date Symptoms Analyses on BM sample Treatment and Outcomes
26 June 2016 - Headache, nausea, fatigue and blurred vision for 1 month ago.
- Abdomen CT scan showed pericardial inflammation and splenomegaly (2 cm).
- Ophthalmoscopy of the right eye revealed papillary edema, retinal hemorrhages (Roth’s spots) and arteriovenous nickings.
-CT scan for brain was normal.
-Peripheral blood (PB) showed: Leukocytosis (113.2 × 109/l), anemia (9 g/dL), and thrombocytopenia (61 × 109/L).
-Bone marrow (BM) smear showed almost 70% of blats.
- Prior to chemotherapy treatment GTG-banding cytogenetics revealed a karyotype
48–50,X,-X,
der(1)t(1;2)(p35;p22),der(1)t(1;3)(p36.21;p26.2),der(2)(:1p36.21- > 1p35::2p22- > 2qter),+ 4,+ 4,+ 4,+ 6,der(8)t(8;11)(q24.3;q13.4),der(10)t(10;12)(p15.3;q24.11),del(10)(q21q21),dic(12;17)(p11.2;p11.2), del(15)(q14q14), del(15)(q21.1q21.1), del(15)(q22.32q24)del(17) (q12q12) [14]
- Molecular cytogenetic studies showed: confirmed the complex aberrations and a monoallelic loss of tumor suppressor gene TP53.
- Flow cytometric (FCM) analysis of BM specimen prior to chemotherapy treatment characterized this case as AML-M1 according to WHO classifications. The abnormal cell population (60% in BM) was positive for CD45dim, CD34, HLADr, CD33, CD117, CD13 and CD11c. This cell population was negative for cyCD3, cyCD79a, CD14, CD64, CD32, CD7, CD19, CD10, and CD5.
- The aCGH analysis revealed different genomic imbalances: deletion on 17q21.3; duplication of 3q26.1q29; and trisomy # 6).
26 June −02 July 2016
- (3 + 7) protocol:
(Daunorubicin 60 mg/m2 for 3 days and Cytarabine 200 mg/m2 for 7 days)
10 Jul 2016 Peripheral blood (PB) showed cytopenia (WBC 0.4 × 109/l), anemia (Hgb 9.5 g/dl); thrombocytopenia (Plt 12 × 109/l).
Serum creatinine value was 19.8 umol/l (normal 45–120) and serum total bilirubin value was 22.2 (normal value 2–21 umol/l), serum Ca+ 2 value 2 (2.15–2.55 mmol/l), serum Na+ value 132.3 (135–148 mmol/l).
-BM smear showed almost 7% of blats.
26 Jul 2016 -Complete remission (CR)
PB showed: WBC (6.1 × 109/l), Hgb (11.7 g/dl); Plt (303 × 109/l).
-BM smear showed almost 5% of blats
46,XX [19]/HeH [2] 11 Aug-17 Aug 2017
Re-Induction: ICE
cytrabin 200 mg/d Day1 ➔Day7
etobside 100 mg/d Day1➔Day5
idarubicin 20 mg/d Day1 ➔Day3
25 Sep 2016 -Blurred vision in the right eye (retinal detachment sensory serous).
-CR
-PB showed: WBC (7.4 × 109/l), Hgb (11.6 g/dl); Plt (183 × 109/l).
-BM smear showed almost 4% of blats
46,XX [14] 26 Sep-28 Sep 2017
Consolidation1 - HAM
Cytrabin 3G/m2/d Day1➔Day3
Methoxantron 20 mg/d D1,D2
15 Nov 2016 Relapse.
-Secondary treatment event: mass under vascular arch with splint edema of optical nerve of the right eye which causes to sever decrease of vision in the right eye.
-BM smear showed almost 20–30% of blats.
-Cerebrospinal fluid (CSF) was negative.
PB showed: WBC (5.6 × 109/l, with 98.5 of neutrophils), Hgb (11.6 g/dl); thrombocytopenia [Plt (70 × 109/l)].
-Serum creatinine value was 39 umol/l (normal 45–120) and serum Ca+ 2 value was 1.94 (2.15–2.55 mmol/l).
-CT scan of brain was normal.
17 Nov-19 Nov 2017
Consolidation2 - HAM
Cytrabin 3G/d Day1➔Day3
Methoxantron 20 mg/d D1,D2
30 Nov 2016 PB showed: Cytopenia [WBC (0.1 × 109/l)], anemia [Hgb (8.4 g/dl)]; thrombocytopenia [Plt (20 × 109/l)].
Serum creatinine value was 33 umol/l (normal 45–120), serum serum K+ value 2.89 (3.5–5.2 mmol/l), and serum Na+ value 134.6 (135–148 mmol/l).
The mass behind the retina of the right eye was still present
03 Jan 2017 -Disappeared the previous Mass behind retina.
-Relapse.
PB showed: WBC (7.5 × 109/l, with 77.7 of neutrophils), Hgb (12 g/dl); Plt (178 × 109/l).
-BM smear showed almost 15% of blats
- Post to chemotherapy treatment GTG-banding cytogenetics revealed a karyotype
92,XXXX [4]/62,XX,+ 1,+ 4,+ 5,+ 5,+ 6, + 6, + 11, + 15, + 16, + 17, + 19, + 19, + 20, + 20,+ 21, + 22 [2]/46,XX [15].
FCM analysis of BM specimen post to chemotherapy treatment characterized this case as AML-M6 according to WHO classifications. The abnormal cell population (15%) was positive for CD45dim, CD36, HLADr, CD33, CD34, CD117, CD13, CD235a and MPO. Those blasts were negative for: CD10, CD19, CD20, CD22, CD5, CD7, CD2, CD3, CD16, CD56, CD1a, CD14, CD64, CD32, TdT, cyCD3 and cyCD79a.
05 Jan 2017
PB showed: WBC (3.5 × 109/l, with 84.4 of neutrophils), anemia [Hgb (9.3 g/dl)]; thrombocytopenia [Plt (33 × 109/l)].
10 Jan 2017
The MD’s suggested Flag-Ida protocol. No Flag-Ida treatment available because the political situation in his country.
She was given Cytrabin 100 mg per day
25 Jan 2017 -Blurred vision in the right eye (central retinal detachment serous).
-PB showed: WBC 60 × 109/l (70% of them were blats), Hgb 13.3 g/dl; thrombocytopenia Plt 13 × 109/l.
-Brain MRI was normal.
She was treated with: Cytrabin 1 g/d Day1➔day3
Etoposide 100 mg/d day1 ➔day3
Methoxantron 20 mg/d Day1 ➔ Day2
13 Feb 2017 PB showed: Cytopenia [WBC (0.5 × 109/l)], anemia [Hgb (9.7 g/dl)]; thrombocytopenia [Plt (13 × 109/l)].
Serum creatinine value was 34 umol/l (normal 45–120),serum serum K+ value 2.92 (3.5–5.2 mmol/l), serum Na+ value 134.9 (135–148 mmol/l), and serum total bilirubin value was 24.09 (normal value 2–21 umol/l).
16 Feb 2017
PB showed: Cytopenia [WBC (1.5 × 109/l, with 44% of them were basts)], anemia [Hgb (9.6 g/dl)]; thrombocytopenia [Plt (17 × 109/l)].
Serum creatinine value was 34 umol/l (normal 45–120),serum serum K+ value 2.57 (3.5–5.2 mmol/l), serum and Na+ value 134.1 (135–148 mmol/l).
17 Mar 2017 -Her MD’s stooped her treatment depended on her request from 1 month.
-Relapse.
-BM smear showed almost 44% of blats.
-PB showed: WBC (7.5 × 109/l, with 77.7 of neutrophils), Hgb (12 g/dl); Plt (178 × 109/l).
  - She suffered from fever more than 40 C° for more than 3 days, menorrhagia and blurred vision in the right eye.
-Approximately 8.5 months after initial diagnosis she died due to unknown causes.
-No autopsy was performed because she died in her house.