Clinical and laboratory characteristics, treatments, and outcomes of patients with congenital myelofibrosis
| ID . | Age/Sex . | WBC ×109/L . | HGB (g/dL) . | PLT ×109/L . | MCV (fL) . | MPV (fL) . | PB smear morphology . | Other clinical features . | JAK2 . | MPL . | CALR . | Therapy and response . | HLA . | G6B genotype . | Outcome . | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A . | B . | C . | DRB1 . | DQB1 . | |||||||||||||||
| 1-III-1 | 5 mo/M | NA | 6.0 | 20 | 66.0 | NA | Microcytosis, anisopoikilocytosis, target cells, ovalocytes, large platelets | CAH | Neg | ND | ND | No pre-HSCT therapy | 11:01 | 41:01 | 07:01 | 08:04 | 03:01 | c.61_61+1dup/ c.61_61+1dup | Deceased from HSCT complications, graft failure after 2nd HSCT, GI bleed, ARDS |
| S/P 2 haploidentical HSCT from mother | 11:01 | 41:01 | 07:01 | 08:04 | 03:01 | ||||||||||||||
| 1-III-5 | Birth/M | NA | 6.9 | 16 | NA | NA | Anisopoikilocytosis, target cells, basophilic stippling, large platelets | CAH | Neg | Neg | Neg | Steroids, transient partial response but not sustained. Platelets declined with taper. | 11:01 | 41:01 | 07:01 | 08:04 | 03:01 | c.61_61+1dup/ c.61_61+1dup | 6 y post-HSCT, engrafted, maturing trilineage hematopoiesis with no evidence of fibrosis. |
| MRD HSCT from 1-III-9 | 11:01 | 41:01 | 07:01 | 08:04 | 03:01 | ||||||||||||||
| 1-III-6 | 6 mo/M | 13.79 | 8.7 | 19 | 68.0 | NA | Microcytosis, anisopoikilocytosis, target cells, basophilic stippling, tear drops, frequent large platelets | CAH | Neg | Neg | Neg | No pre-HSCT therapy. | 11:01 | 41:01 | 07:01 | 08:04 | 03:01 | c.61_61+1dup/ c.61_61+1dup | 4 y post-HSCT. Slow platelet and RBC engraftment. Maturing trilineage hematopoiesis and no evidence of fibrosis, but platelets remain decreased, ∼119 × 109/L-142 × 109/L |
| MRD HSCT from 1-III-9 | 11:01 | 41:01 | 07:01 | 08:04 | 03:01 | ||||||||||||||
| 1-III-9 | 2 y/F | 8.39 | 11.9 | 468 | 72.0 | 8.2 | Microcytosis | CAH, mild iron deficiency | ND | ND | ND | None | 11:01 | 41:01 | 07:01 | 08:04 | 03:01 | c.61_61+1dup/ c.61_61+1dup | Clinically unaffected, rare giant platelets |
| 11:01 | 41:01 | 07:01 | 08:04 | 03:01 | |||||||||||||||
| 2-II-5 | 7 y/M | 5.43 | 11.7 | 107 | 80.5 | NA | Anisopoikilocytosis, microcytosis, ovalocytes, burr cells, helmet cells, acanthocytes, schistocytes, frequent large platelets | None | ND | ND | ND | None | 23:01 | 50:01 | 06:02 | 04:06 | 04:02 | c.147insT | Observation, stable disease |
| 23:01 | 50:01 | 06:02 | 04:06 | 04:02 | p.Ala52GlyfsX128 | ||||||||||||||
| 2-II-6 | 6 mo/M | NA | 5.4 | 10 | 65.0 | 12-24 | Anisopoikilocytosis, microcytosis, elliptocytes, schistocytes, frequent large platelets | None | Neg | Neg | Neg | IVIG ×1 | 23:01 | 50:01 | 06:02 | 04:06 | 04:02 | c.147insT | Observation, stable disease |
| Steroids ×1 with transient responses | 23:01 | 50:01 | 06:02 | 04:06 | 04:02 | p.Ala52GlyfsX128 | |||||||||||||
| 3-II-4 | 17 mo/F | 19.2 | 5.1 | 81 | 71.3 | NA | Anisopoikilocytosis, microcytosis, target cells, ovalocytes, burr cells, tear drop cells, schistocytes, frequent large platelets | CAH, asplenia | Neg | Neg | Neg | None | 11:01 | 41:01 | 07:01 | 08:04 | 03:01 | c.61_61+1dup/ c.61_61+1dup | Observation, stable disease |
| 11:01 | 41:01 | 07:01 | 08:04 | 03:01 | |||||||||||||||
| 4-II-2 | 18 mo/M | NA | 5.4 | 96 | NA | NA | Anisopoikilocytosis, target cells, schistocytes, leptocytes, dacryocytes, Howell-Jolly bodies | Cerebral cavernoma | ND | Neg | ND | IVIG and steroid, no response | ND | ND | ND | ND | ND | c.469G>A | Observation, stable thrombocytopenia, supportive care with platelets |
| p.Gly157Arg | |||||||||||||||||||
| 4-II-3 | 1 y/F | 17 | 12.5 | 97 | NA | NA | Anisopoikilocytosis, target cells, schistocytes, leptocytes, dacryocytes, Howell-Jolly bodies | None | ND | ND | ND | None | ND | ND | ND | ND | ND | c.469G>A | Observation, stable mild/moderate thrombocytopenia |
| p.Gly157Arg | |||||||||||||||||||
| ID . | Age/Sex . | WBC ×109/L . | HGB (g/dL) . | PLT ×109/L . | MCV (fL) . | MPV (fL) . | PB smear morphology . | Other clinical features . | JAK2 . | MPL . | CALR . | Therapy and response . | HLA . | G6B genotype . | Outcome . | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A . | B . | C . | DRB1 . | DQB1 . | |||||||||||||||
| 1-III-1 | 5 mo/M | NA | 6.0 | 20 | 66.0 | NA | Microcytosis, anisopoikilocytosis, target cells, ovalocytes, large platelets | CAH | Neg | ND | ND | No pre-HSCT therapy | 11:01 | 41:01 | 07:01 | 08:04 | 03:01 | c.61_61+1dup/ c.61_61+1dup | Deceased from HSCT complications, graft failure after 2nd HSCT, GI bleed, ARDS |
| S/P 2 haploidentical HSCT from mother | 11:01 | 41:01 | 07:01 | 08:04 | 03:01 | ||||||||||||||
| 1-III-5 | Birth/M | NA | 6.9 | 16 | NA | NA | Anisopoikilocytosis, target cells, basophilic stippling, large platelets | CAH | Neg | Neg | Neg | Steroids, transient partial response but not sustained. Platelets declined with taper. | 11:01 | 41:01 | 07:01 | 08:04 | 03:01 | c.61_61+1dup/ c.61_61+1dup | 6 y post-HSCT, engrafted, maturing trilineage hematopoiesis with no evidence of fibrosis. |
| MRD HSCT from 1-III-9 | 11:01 | 41:01 | 07:01 | 08:04 | 03:01 | ||||||||||||||
| 1-III-6 | 6 mo/M | 13.79 | 8.7 | 19 | 68.0 | NA | Microcytosis, anisopoikilocytosis, target cells, basophilic stippling, tear drops, frequent large platelets | CAH | Neg | Neg | Neg | No pre-HSCT therapy. | 11:01 | 41:01 | 07:01 | 08:04 | 03:01 | c.61_61+1dup/ c.61_61+1dup | 4 y post-HSCT. Slow platelet and RBC engraftment. Maturing trilineage hematopoiesis and no evidence of fibrosis, but platelets remain decreased, ∼119 × 109/L-142 × 109/L |
| MRD HSCT from 1-III-9 | 11:01 | 41:01 | 07:01 | 08:04 | 03:01 | ||||||||||||||
| 1-III-9 | 2 y/F | 8.39 | 11.9 | 468 | 72.0 | 8.2 | Microcytosis | CAH, mild iron deficiency | ND | ND | ND | None | 11:01 | 41:01 | 07:01 | 08:04 | 03:01 | c.61_61+1dup/ c.61_61+1dup | Clinically unaffected, rare giant platelets |
| 11:01 | 41:01 | 07:01 | 08:04 | 03:01 | |||||||||||||||
| 2-II-5 | 7 y/M | 5.43 | 11.7 | 107 | 80.5 | NA | Anisopoikilocytosis, microcytosis, ovalocytes, burr cells, helmet cells, acanthocytes, schistocytes, frequent large platelets | None | ND | ND | ND | None | 23:01 | 50:01 | 06:02 | 04:06 | 04:02 | c.147insT | Observation, stable disease |
| 23:01 | 50:01 | 06:02 | 04:06 | 04:02 | p.Ala52GlyfsX128 | ||||||||||||||
| 2-II-6 | 6 mo/M | NA | 5.4 | 10 | 65.0 | 12-24 | Anisopoikilocytosis, microcytosis, elliptocytes, schistocytes, frequent large platelets | None | Neg | Neg | Neg | IVIG ×1 | 23:01 | 50:01 | 06:02 | 04:06 | 04:02 | c.147insT | Observation, stable disease |
| Steroids ×1 with transient responses | 23:01 | 50:01 | 06:02 | 04:06 | 04:02 | p.Ala52GlyfsX128 | |||||||||||||
| 3-II-4 | 17 mo/F | 19.2 | 5.1 | 81 | 71.3 | NA | Anisopoikilocytosis, microcytosis, target cells, ovalocytes, burr cells, tear drop cells, schistocytes, frequent large platelets | CAH, asplenia | Neg | Neg | Neg | None | 11:01 | 41:01 | 07:01 | 08:04 | 03:01 | c.61_61+1dup/ c.61_61+1dup | Observation, stable disease |
| 11:01 | 41:01 | 07:01 | 08:04 | 03:01 | |||||||||||||||
| 4-II-2 | 18 mo/M | NA | 5.4 | 96 | NA | NA | Anisopoikilocytosis, target cells, schistocytes, leptocytes, dacryocytes, Howell-Jolly bodies | Cerebral cavernoma | ND | Neg | ND | IVIG and steroid, no response | ND | ND | ND | ND | ND | c.469G>A | Observation, stable thrombocytopenia, supportive care with platelets |
| p.Gly157Arg | |||||||||||||||||||
| 4-II-3 | 1 y/F | 17 | 12.5 | 97 | NA | NA | Anisopoikilocytosis, target cells, schistocytes, leptocytes, dacryocytes, Howell-Jolly bodies | None | ND | ND | ND | None | ND | ND | ND | ND | ND | c.469G>A | Observation, stable mild/moderate thrombocytopenia |
| p.Gly157Arg | |||||||||||||||||||
ARDS, acute respiratory distress syndrome; CAH, congenital adrenal hyperplasia; F, female; GI, gastrointestinal; HGB, hemoglobin; HSCT, hematopoietic stem cell transplant; IVIG, IV immunoglobulin; M, male; MCV, mean corpuscular volume; MPV, mean platelet volume; MRD, minimal residual disease; NA, not available; ND, not done; Neg, negative; PB, peripheral blood; PLT, platelet; RBC, red blood cell; S/P, status post; WBC, white blood cell.