107.2 ð åèçïŒé«åž«åè / PGY OSCEïŒ
107.2.0.1 ð Cram Sheet
107.2.0.1.1 ð¥ é« yield 12
- AA: pancytopenia + hypocellular BM + no fibrosis/clonal
- AA causes: idiopathic > drug (chloramphenicol/NSAID/AED/methimazole) > viral (hepatitis non-A-E) > toxin (benzene) > radiation
- SAA Camitta: 2 of 3 (ANC < 500, plt < 20K, retic < 1%) + BM < 25%
- AA Tx: HSCT (< 50 + MSD) OR ATG + cyclosporine + eltrombopag
- Eltrombopag added IST (NEJM 2017): improved response
- MDS: cytopenia + dysplasia (⥠10%) + cytogenetic/molecular
- IPSS-M (2022): integrates 31 mutations
- del(5q): lenalidomide 60-70% TI
- SF3B1+/RS: luspatercept (FDA expanded 2023)
- Higher-risk MDS: AZA/decitabine ± venetoclax; HSCT curative
- Imetelstat (Rytelo, FDA 2024) for refractory transfusion-dep MDS
- Fanconi: DEB test; thumb/radius/café-au-lait + AA + H/N SCC
107.2.0.2 â é« yield
107.2.0.2.1 MDS WHO 2022 Subtypes
| Subtype | Feature |
|---|---|
| MDS-LB (low blast) | < 5% blasts |
| MDS-RS | Ringed sideroblasts + SF3B1 |
| MDS-5qâ | del(5q); lenalidomide-responsive |
| MDS-IB1 | 5-9% blasts |
| MDS-IB2 | 10-19% blasts |
| MDS-TP53 mutation | Poor prognosis; AML risk |
| MDS-f (fibrosis) | Poor |
107.2.0.2.2 MDS Drugs Quick
| Drug | Mechanism | Indication |
|---|---|---|
| ESA (epoetin) | EPO | Lower-risk; EPO < 500 |
| Lenalidomide | Anti-clonal | del(5q) |
| Luspatercept (Reblozyl) | TGF-β inhibitor | SF3B1/RS; expanded 2023 to all lower-risk |
| Azacitidine (Vidaza) | HMA | Higher-risk; ORR + OS benefit |
| Decitabine (Dacogen) | HMA | Higher-risk |
| Venetoclax + AZA | BCL-2 + HMA | Higher-risk newer |
| Imetelstat (Rytelo) | Telomerase | Transfusion-dependent refractory (FDA 2024) |
| HSCT | Replace clone | Curative; younger fit |
107.2.0.2.3 Hereditary BMF Syndromes
| Syndrome | Gene | Key Features |
|---|---|---|
| Fanconi | FANC | Thumb/radius, café-au-lait, AA, AML/H&N SCC |
| Dyskeratosis congenita | TERC, TERT, TINF2 | Nail dystrophy + leukoplakia + skin pigment |
| Diamond-Blackfan | RPS19, RPL5 | Pure red cell aplasia (newborn) |
| Shwachman-Diamond | SBDS | Pancreatic insufficiency + BMF |
| Severe congenital neutropenia | ELANE | Kostmann; severe neutropenia |
| CAMT | MPL | Amegakaryocytic thrombocytopenia |
107.2.0.3 ð¯ èªææª¢æž¬
- SAA Camitta criteria? â 2 of 3: ANC < 500, plt < 20K, retic < 1% + BM < 25%
- AA Tx age < 50 + MSD? â HSCT
- AA without MSD/older? â ATG + cyclosporine + eltrombopag
- AA classic drug? â Chloramphenicol
- AA viral? â Non-A-E hepatitis
- MDS criteria? â Cytopenia + dysplasia ⥠10% + cytogenetic/molecular
- del(5q) drug? â Lenalidomide
- SF3B1/RS drug? â Luspatercept
- Higher-risk MDS 1st? â Azacitidine ± venetoclax
- Refractory MDS 22E? â Imetelstat (Rytelo)
- MDS to AML rate? â 30%
- Fanconi test? â DEB chromosomal fragility
- Diamond-Blackfan? â Pure red cell aplasia (newborn)
- Dyskeratosis congenita triad? â Nail dystrophy + leukoplakia + skin pigment
- Shwachman-Diamond? â SBDS + pancreatic insufficiency + BMF
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