Ann Lab Med.  2024 Sep;44(5):446-449. 10.3343/alm.2023.0444.

Multiple Primary Cancers With Hematologic Malignancies and Germline Predisposition: A Case Series

• Yun J
• Lee DS
• Lee S
• Yun H

• KMID: 2559151
• DOI: http://doi.org/10.3343/alm.2023.0444

Abstract

The term “multiple primary (MP) cancers” refers to the existence of more than one cancer in the same patient. The combination of MP cancers with hematological malignancies is relatively uncommon. In this study, we present five patients diagnosed with MP cancers concomitant with hematological malignancies. We comprehensively analyzed their clinical characteristics, cytogenetic profiles, and germline and somatic variants. As first primaries, two patients had solid cancer not followed by cytotoxic therapy and three had hematologic cancer, followed by cytotoxic therapy. The second primaries were all hematologic malignancies that did not meet the criteria for therapy-related myeloid neoplasm. Notably, two (40%) out of the five patients harbored pathogenic potential/presumed germline variants in cancer predisposition genes. Therefore, germline variant testing should be considered when MP cancers with hematological malignancies require consideration for related donor stem cell transplantation.

Keyword

Germline predisposition; Hematologic neoplasms; High-throughput nucleotide sequencing; Multiple primary neoplasms

Figure

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  Fig. 1 Integrative Genomics Viewer snapshot of the TP53 c.730G>A germline variant in patient MP4. A non-malignant BM sample (control) of MP4 harbored the TP53 variant with a VAF of 31.0% (upper panel), whereas a B-lymphoblastic leukemia BM sample of MP4 harbored the same TP53 variant with a VAF of 82.5%, suggesting LOH. Abbreviations: BM, bone marrow; VAF, variant allele frequency; LOH, loss of heterozygosity.

Reference

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