Related Experiment Video
Updated: Jun 23, 2026
11:15
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
24.4K
How I diagnose myeloid neoplasms with germline predisposition
Nisha Patel1, Katherine R Calvo1,2
1Hematology Section, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, US.
American Journal of Clinical Pathology
|July 17, 2023
Summary
Diagnosing germline predisposition to myeloid neoplasia can be complex. Pathologists must integrate various tests to confirm genetic alterations for accurate patient management and donor screening.
Area of Science:
- Hematology
- Oncology
- Genetics
Background:
- Pathologists are key in diagnosing germline predisposition to myeloid neoplasia.
- Diagnostic challenges arise from incomplete clinical, laboratory, or genetic data.
Purpose of the Study:
- Illustrate diagnostic challenges in bone marrow examination for myeloid malignancy with germline predisposition.
- Highlight pitfalls in identifying germline alterations.
Main Methods:
- Case-based examples of bone marrow examinations.
- Review of diagnostic workup including clinical history, lab testing, and genetic studies.
- Discussion of targeted myeloid sequencing limitations.
Main Results:
- Germline predisposition is possible even without family history, syndromic features, or early onset.
- Targeted sequencing may miss certain types of genetic variants.
- Confirmation requires nonhematopoietic germline DNA, ideally from cultured skin fibroblasts.
- Some syndromes present with myelodysplastic-appearing features without meeting MDS criteria.
Conclusions:
- Recognizing germline predisposition is vital for disease management, especially for hematopoietic stem cell transplantation donor screening.
- Accurate diagnosis necessitates integrating clinical history, bone marrow findings, cytogenetics, and molecular genetic testing.
