NEWS
The second family included a father and his daughter who had essential thrombocythemia ( ET ). The father later progressed to acute myeloid leukemia ( AML ). Both father and daughter had a missense variant in the BRCA2 gene . The researchers noted that the father demonstrated an excellent response to decitabine monotherapy .
In the third family , the mother had ET , although the researchers noted that “ prefibrotic myelofibrosis could not be completely ruled out ,” while the daughter had polycythemia vera ( PV ). The researchers identified a pathogenic frameshift variant c . 1100del ( p . Thr367Metfs * 15 ) in the CHEK2 ( checkpoint kinase 2 ) gene ( OMIM * 604373 , transcript NM _ 007194.4 ), which the investigators reported likely led to loss of protein function . The grandmother in this family died from leukemia at age 46 , while the grandfather died from bladder cancer at age 75 . A cousin also died from ovarian cancer during young adulthood .
The fourth family included a father with prostate carcinoma , who was diagnosed at age 64 and treated by only surgery . The father received a PV diagnosis at age 69 , which later progressed to AML by age 75 . The daughter also experienced ET , which later progressed to PV . Both family members carried a heterozygous missense variant in the tumor predisposition gene ATM . The researchers also noted that the family history was conspicuous for breast cancer . One sister on the father ’ s side had bilateral breast cancer , while a different sister died from breast cancer at age 85 . “ The fact that two patients with ET or PV progressed to AML may suggest a high risk of leukemic transformation and the necessity for closer monitoring of clonal evolution ,” said Dr . Koschmieder .
The fifth family included a mother and daughter who had ET , but the investigators did not find “ any pathogenic or likely pathogenic variant in the applied WES approach or BRCA1 / 2 multiplex ligationdependent probe amplification .”
Dr . Koschmieder explained that the detection of a pathogenic germline variant in high-penetrance genes , such as BRCA1 and BRCA2 , should prompt the discussion of prophylactic surgery . “ Germline mutations in
DNA repair genes may also affect the type of cytoreductive therapy ,” he said . “ Additionally , these findings suggest that DNA repair gene haploinsufficiency may predispose individuals to acquire MPN-associated driver mutations .” ●
The authors report no relevant conflicts of interest .
Reference Elbracht M , Meyer R , Kricheldorf K , et al . Germline variants in DNA repair genes , including BRCA1 / 2 , may cause familial myeloproliferative neoplasms . Blood Adv . 2021 ; 5 ( 17 ): 3373-3376 .
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