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Laboratory for Childhood Cancer Pathology

In the Laboratory for Childhood Cancer Pathology diagnostic tests are carried out by various laboratory disciplines in order to work towards an integrated diagnosis. A clear request and complete information are essential. Conclusions of the examinations are reported to the applicant through secure mail and recorded in the patient information system under the responsibility of a clinical supervisor lab (hemato-oncology) or pathologist.

Frequently asked questions


The laboratory consists of the following teams

  • Pre-analysis
  • Biobank/Studies
  • Morphology
  • Flowcytometry
  • Pathology
  • Molecular diagnostics
  • Bio-informatics

Hemato-oncological diagnostics

Abnormalities in peripheral blood (PB) and bone marrow (BM) can have two clinical presentations: on the one hand by pancytopenia, on the other hand by hyperleucocytosis, with or without the presence of blasts in the PB. For this purpose, additional diagnostics can be performed, to diagnose/exclude leukemia and bone marrow failure (BMF) to determine the diagnosis of congenital BMF/SAA/MDS/JMML.

Leukemia is primarily diagnosed and characterized by performing cytomorphological and flow cytometric examination of the PB. Subsequently, extensive typing and additional genetic testing/molecular diagnostics will be performed on BM to further genetically characterize the leukemia.

In case of bone marrow failure the differential diagnosis is different depending on the presentation.

  1. presentation with pancytopenia: differential diagnosis congenital BMF, SAA, MDS-Refractory cytopenia (RCC), BMF by transient cause.
  2. presentation with myeloproliferative abnormalities: differential diagnosis  Leukemia/Myleloproliferative Disease/Juvenile Myelomonocytic Disease (JMML)/MDS with excess of blasts (MDS-EB).

Our laboratory is the reference laboratory for bone marrow failure diagnostics and performs analyses using the following techniques: morphology, flowcytometry and molecular diagnostics (RNAseq/WES).

After screening the PB, extensive research can be done on BM aspirate and BM bone biopsy. The bone biopsy is histologically analyzed by the pathologist. In addition to molecular diagnostics, genetic diagnostics (e.g. BMF gene panel) are performed by the Clinical Genetics department of the UMCU/WKZ. For information about Clinical Genetics, see the website of the UMC Utrecht.

To request an examination, please use the form for the diagnosis of hematological malignancies or molecular diagnostics for hematological malignancies.

Pathology

The Pathology team processes tissue and cytological material for diagnostic determinations. Residual material is also stored and used for research purposes.

During macroscopic examination of the tissue, tissue is snapfrozen, when possible. Material is used for flowcytometric examination as indicated, and material is fixated in formaldehyde and enclosed for microscopic examination. Additional testing of the tissue (immunohistochemistry or molecular diagnostics) is also performed by the LKO.

We perform immunohistochemistry for both diagnostics and research purposes.

Revisions/consultations

Material can be sent in for consultation or sent for revision upon request of the LKO. Material can be sent both fixed (cuts/blocks) and unfixed (fresh or frozen). If material is sent unfixed, you should always contact the pathologist on duty in advance.

For application and submission instructions please use the Application form Pathology Consultation

Molecular Diagnostics

The Molecular Diagnostics and Bioinformatics team performs Whole Exome Sequencing (WES) and/or RNA sequencing to detect genetic abnormalities in tumor material. These abnormalities help to diagnose the type of cancer, but they can also be predictive for therapy response (so-called 'targeted' therapies). For the intraoperative classification of brain tumors, the LKO uses a Nanopore sequencing-based classifier (see PMID: 37821699).

In addition, we perform analyses for the determination of Minimal Residual Disease (MRD) for monitoring the response to therapy in patients with leukemia. For patients who have undergone a stem cell transplant, we offer a chimerism test to determine acceptance or rejection of the transplanted donor material.

For application and submission instructions please choose one of the forms:

Application Form: MolDx Hematological Malignancies

For additional information about RNAseq, WES and the CNS tumor classification, please refer to the documents below. These documents also list the gene panels used.

Scientific research

In addition to diagnostics, the laboratory is closely involved in scientific research performed within the center. The laboratory facilitates scientific research by, among other things, optimally processing patient material and storing it in the biobank. In addition, the employees of the laboratory are directly involved in various research projects. The aim of this is not only to stimulate scientific research, but also to be able to apply it quickly in daily practice.

Quality management and accreditation

Since February 2022, the Laboratory of Pediatric Oncology has been accredited by the Dutch Accreditation Council. In doing so, the laboratory has demonstrated that it meets the international quality requirements of ISO15189. For the scope of the accreditation, see M325 - Dutch Accreditation Council (rva.nl)

The vast majority of our diagnostic tests are carried out under the conditions of accreditation and ISO15189. See also the competency statement and the list of diagnostic tests .

We declare that our in-house developed diagnostic tests comply with the IVDR.

How does the complaints and feedback procedure work?

If you are not satisfied with the services of the LKO, you can let us know via the relevant healthcare professional of the LKO or diagnostisch.lab@prinsesmaximacentrum.nl.

Contact

We are available by phone Monday to Friday from 8:00 AM to 5:00 PM and Saturday from 10:00 AM to 2:00 PM. Outside these hours, you can reach us through central phone number of the Princess Máxima Center.