Table 5 Potential uses of genetic testing in HSCT requiring further study

From: Genomic screening and complications of hematopoietic stem cell transplantation: has the time come?

Risk factors

Complication(s)

Genetic tests (reference lab/link)

Consideration(s)

Pre-transplant liver dysfunction; prior abdominal XRT; iron loading states (transfusions, myelodysplasia); gemtuzumab ozogamicin exposure; fever during conditioning

HVOD or liver dysfunction; infection

HFE C282Y www.genetests.org or www.questdiagnostics.com

Chelation, glutamine±vitamin E, apo-transferrin infusion, amifostine, oral citrulline, defibrotide; low threshold for empiric antifungals

  

MBL2 www.ibtreflab.com a

Infusion of purified MBL if level <100 ng/ml

Pulmonary DLCO <70% of normal at baseline; prior thoracic XRT; planned TBI

ALI

CPSI T1405N Molecular Pathology Laboratory, Vanderbilt Medical Ctr (www.genetests.org)b

Oral citrulline, parenteral glutamine

Fever/infection before or during conditioning phase; recurrent bacteremia; prolonged immunosuppression; poor engraftment

Bacterial sepsis

MBL2 (see above)

Infusion of purified MBL

MTX prophylaxis and TBI

Mucositis

MTHFR (thermolabile, C677T) www.genetests.org

Topical oral or parenteral glutamine, vitamin E; amifostine; ?MTX dosing change

Risk of severe aGVHD

aGVHD

IL-10−592, KIR and HLA-C typing www.ihwg.org/components/nkover.htm

Donor selection and GVHD prophylaxis

Aplastic anemia, marrow failure syndromes, prior thoraco-abdominal XRT; use of ATG, anti-T-cell Ab, or TBI; older age and CSA-treated cGVHD

Secondary cancers

HFE (see above)

Monitor iron stores, chelation, avoidance of iron post transplant

Renal insufficiency before HSCT±planned TBI

Renal failure

ACE (D/I) www.genetests.org

?Early use of ACE inhibitor

  1. Specific genetic tests and interventions need further investigation and cannot be routinely recommended.130–137 HVOD=hepatic veno-occlusive disease; ALI=acute lung injury; DLCO=pulmonary diffusing capacity for carbon monoxide; XRT=radiation; MTX=methotrexate; TBI=total-body irradiation; ATG=anti-thymocyte globulin; Ab=antibody; CSA=cyclosporine A; aGVHD/cGVHD=acute or chronic graft-versus-host disease. Genes: HFE, hemochromatosis; MBL2, mannose-binding lectin 2; CPSI, carbamyl-phosphate synthetase I; MTHFR, methylene-tetrahydrofolate reductase; ACE, angiotensin-converting enzyme; KIR, killer immunoglobulin receptor; HLA-C, human leukocyte antigen group C.
  2. aMeasurement of protein levels (MBL), rather than genotyping, is performed.
  3. bMeasurement of CPSI enzymatic activity and genetic testing are available.
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