OVERVIEW: What every practitioner needs to know

First successfully performed in 1968, Hematopoietic Progenitor Cell (HPC) transplantation is the therapeutic infusion of blood stem cells into a patient. The source of the blood stem cells may be from bone marrow, umbilical cord blood, or peripheral blood. The blood stem cells may be obtained from the patient or from a donor; the patient’s disease status dictates when a “non-self” or “allogeneic” donor is needed.

Are you sure your patient needs a stem cell transplant? What are the typical findings for this disease?

What diseases are associated with HPC transplantation?

Hematopoietic Progenitor Cell Transplantation (HPCT): Therapy for Many Diseases

Indications for HPCT (Not all patients with these disorders will necessarily need a transplant.)

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  • Leukemia

  • Lymphoma

  • Multiple myeloma

  • Brain tumors

  • Neuroblastoma

  • Rare pediatric and adult solid tumors

  • Leukemia caused by chemotherapy or radiation

  • Myelodysplastic syndromes

Acquired Bone Marrow Failure:

  • Aplastic anemia

Inherited Bone Marrow Failure Disorders

  • Fanconi anemia

  • Dyskeratosis congenita

  • Congenital pure red cell aplasia

  • Amegakaryocytic thrombocytopenia

  • Congenital neutropenia


  • Sickle Cell Anemia

  • Thalassemia

Primary Immunodeficiencies:

  • Severe combined immunodeficiency

  • Hyper IgM syndrome

  • Wiskott-Aldrich syndrome

  • Hemophagocytic lymphohistiocytosis

  • Griscelli syndrome

  • Chediak-Higashi Syndrome

Inborn Errors of Metabolism and Congenital Disorders:

  • Hurler and Hunter Syndromes

  • Osteopetrosis

  • Adrenoleukodystrophy

  • Leukodystrophy

  • Miscellaneous metabolic diseases

  • Mitochondrial disorders

Refractory Autoimmune Disorders:

  • Systemic lupus erythematosus

  • Rheumatoid arthritis

  • Crohn’s disease

What caused this disease to develop at this time?

What laboratory studies should you request to help confirm the diagnosis? How should you interpret the results?

  • Renal function must be assessed by obtaining BUN, creatinine, and 24-hour urine for creatinine clearance (or nuclear medicine GFR).

  • Pulmonary function must be assessed by venous blood gas in patients too young to perform pulmonary function testing.

  • Liver disease is assessed by obtaining albumin, prothrombin time, total serum protein, ALT, AST and bilirubin.

  • Donors for and patients who will undergo HPCT must be tested for a variety of infectious diseases. This includes serologies, nucleic acid, and PCR testing. Currently, both donors and recipients are tested for:

    HIV 1 and 2

    Human T-lymphotropic virus (HTLV) 1 and 2



    Chagas disease

    West Nile virus

    Hepatitis A, B, and C

  • In addition, many centers also test for:

    Epstein-Barr virus (EBV)

    Herpes simplex 1 and 2

    Respiratory viruses

  • Patients with primary immunodeficiencies may also be tested for:





    Herpes simplex 1 and 2

    Respiratory viruses

Would imaging studies be helpful? If so, which ones?

  • Prior to transplantation, all recipients have baseline chest X-rays. In some centers, sinus computed tomography (CT) is performed to determine whether asymptomatic disease is present. Chest CT is performed on pediatric patients, especially if pulmonary function testing could not be accomplished.

  • ECG and echocardiograms are obtained on all patients.

  • Pulmonary function testing with DLCO (diffusion capacity of the lung for carbon monoxide) is obtained on all patients who can cooperate.

  • Nuclear Medicine GFR is obtained on all patients for whom a 24-hour urine for creatinine clearance cannot be obtained or when very accurate renal function assessment is required by protocol.

Confirming the diagnosis

  • The American Society for Blood and Marrow Transplantation has published guidelines outlining criteria for transplantation. These guidelines are updated frequently. BMT InfoNet, the National Cancer Institute, the Children’s Oncology Group, and the National Marrow Donor Program also publish information about which diseases respond favorably to transplant.

What are the adverse effects associated with each treatment option?

What are the possible outcomes of stem cell transplantation?

Transplantation is a potentially curative disorder. If the transplanted cells do not grow (“graft failure”), then the malignancy will most likely recur or the original non-malignant disease will still be present.

What causes this disease and how frequent is it?

  • Each year, more than 2,000 HPC transplants are performed in children in the United States. Approximately 25% of the transplants are autologous, meaning the patient’s own previously collected and cryopreserved cells are infused back into the patient after high-dose chemotherapy and/or radiotherapy is given. The majority of transplants are allogeneic, which requires donation of cells by a family member or unrelated donor. Nearly half of allogeneic transplantations utilize blood stem cells from unrelated donors (umbilical cord blood, bone marrow, or peripheral blood).

Other clinical manifestations that might help with diagnosis and management

After relapse, the most common cause of death after HPC transplantation is infection.

Patients who undergo autologous transplantation are at risk for bacterial infections. Fungal infections in these patients are rare.

For the allogeneic recipient, bacterial, fungal and viral infections cause significant morbidity and mortality. Utilizing unrelated or mismatched donors is a major risk factor for developing a serious infection.

Frequent surveillance for infections, and preemptive and empiric treatment have reduced the mortality rates considerably.

What complications might you expect from the disease or treatment of the disease?

Hematopoietic Stem Cell Transplantation (HSCT) is a complicated procedure with quite a few acute and long-term side effects. Within the first 100 days after transplantation, infection and multi-system organ failure may result in death in up to 10% of patients undergoing allogeneic transplantation. Many reduced-intensity regimens are in current use and may result in fewer or less-severe long-term side effects.

Acute toxicities include:

  • -Nausea, vomiting, anorexia

  • -Diarrhea

  • -Hair loss

  • -Mucositis

  • -Infection (bacteremia, pneumonia, cellulitis, urinary tract infection)

  • -Seizures

  • -Pneumonia and interstitial pneumonitis

  • -Acute renal failure

  • -Veno-occlusive disease (sinusoidal obstructive syndrome) of the liver

  • -Cardiac damage

  • -Hypertension

  • -Graft versus host disease (allogeneic patients)

  • -Weakness

  • -Depression

Long-term side effects may be exacerbated by chronic graft-versus-host disease. These “late effects” may include:

  • -Sterility and poor sexual function

  • -Congestive heart failure

  • -Type II diabetes

  • -Metabolic syndrome

  • -Chronic kidney disease and albuminuria

  • -Obstructive or restrictive lung disease

  • -Psychiatric disorders

  • -Malignancy

  • -Dementia

  • -Incomplete immune recovery

  • -Liver disease (may be related to iron overload)

  • -Reduced quality of life

  • -Cataracts

Additional long-term side effects related to chronic graft-versus-host disease may include:

  • -Sicca syndrome (dry eyes and mucous membranes)

  • -Alopecia

  • -Sclerodermatous skin changes

  • -Joint contractures

  • -Protein-losing enteropathies

  • -Esophageal strictures

  • -Dental disease

  • -Chronic renal disease

  • -Liver dysfunction

  • -Recurrent infections

Are additional laboratory studies available; even some that are not widely available?

What is the evidence?

Peniket, AJ, Ruiz de Elvira, MC, Taghipour, G. “An EBMT registry matched study of allogeneic stem cell transplants for lymphoma: allogeneic transplantation is associated with a lower relapse rate but a higher procedure-related mortality rate than autologous transplantation”. Bone Marrow Transplant. vol. 31. 2003. pp. 667-78. (auto vs. allo transplantation for lymphoma)

Heslop, HE, Brenner, MK, Krance, RA. “Children with acute leukemia: a comparison of outcomes from allogeneic blood stem cell and bone marrow transplantation”. Pediatr Blood Cancer. vol. 56. 2011. pp. 143-51. (Leukemia)

Bhatia, M, Walters, MC. “Hematopoietic cell transplantation for thalassemia and sickle cell disease: past, present and future”. Bone Marrow Transplant. vol. 41. 2008. pp. 109-17. (Sickle cell disease and thalassemia)

Zeidler, C, Welte, K, Barak, Y. “Stem cell transplantation in patients with severe congenital neutropenia without evidence of leukemic transformation”. Blood. vol. 95. 2000. pp. 1195-8. (Neutropenia)

Prasad, VK, Kurtzberg, J. “Cord blood and bone marrow transplantation in inherited metabolic diseases: scientific basis, current status and future directions”. Br J Haematol. vol. 148. 2010. pp. 356-72. (Inborn errors of metabolism)

Ongoing controversies regarding etiology, diagnosis, treatment

HPCT is an expensive treatment that requires a huge allocation of resources. Currently, outcomes studies are analyzed comparing the cost of transplantation to the cost of managing patients without transplantation. This information is currently available only for a few diseases.