{"id":104345,"date":"2025-08-23T13:30:10","date_gmt":"2025-08-23T13:30:10","guid":{"rendered":"https:\/\/www.newsbeep.com\/us\/104345\/"},"modified":"2025-08-23T13:30:10","modified_gmt":"2025-08-23T13:30:10","slug":"hematologic-malignancy-spectrum-characterized-in-li-fraumeni-syndrome","status":"publish","type":"post","link":"https:\/\/www.newsbeep.com\/us\/104345\/","title":{"rendered":"Hematologic Malignancy Spectrum Characterized in Li-Fraumeni Syndrome"},"content":{"rendered":"

A study characterizing hematologic malignancies in Li-Fraumeni Syndrome has identified 10 different subtypes, with most occurring de novo, as lymphoid malignancies, and with good responsiveness to standard treatments. The findings were published in JCO Precision Oncology.<\/p>\n

\u201cLi-Fraumeni syndrome is characterized by an increased risk of developing cancers at younger ages and multiple primary cancers,\u201d the study authors explained in their report. \u201cHematologic malignancies account for 4%-10% of cancers in individuals with Li-Fraumeni syndrome, but their phenotypic spectrum and clinical outcomes remain incompletely characterized.\u201d<\/p>\n

The researchers conducted a retrospective cohort study to characterize hematologic malignancy frequency, phenotypes, and outcomes in patients with Li-Fraumeni syndrome. They used cancer genetics registries at 2 universities to identify all unrelated families with Li-Fraumeni syndrome seen between 2010 and the present with at least 1 individual with a pathologically confirmed hematologic malignancy. They also conducted a literature review to identify individuals in the published literature with Li-Fraumeni syndrome with a hematologic malignancy.\u00a0<\/p>\n

Within the cancer genetics registries<\/a>, the researchers identified 121 families with Li-Fraumeni syndrome; 17 patients from 16 (13%) families were diagnosed with at least 1 hematologic malignancy (19 total).\u00a0<\/p>\n

From the literature review, they found an additional 83 patients for whom detailed descriptions were included. Thus, the analysis included a total of 99 patients with Li-Fraumeni syndrome and a hematologic malignancy (median age at the time of first hematologic malignancy diagnosis, 39 years; range, 4-66 years; diagnosed in childhood [<18 years of age], 29%; 53% male).<\/p>\n

The study characterized a spectrum of hematologic malignancies, including 10 subtypes. The researchers found there was a propensity for lymphoid over myeloid diagnoses, including acute lymphocytic leukemia (n=6), non-Hodgkin lymphoma (n=5), myelodysplastic syndrome (n=3), chronic lymphocytic leukemia (n=2), acute myeloid leukemia (AML; n=1), Langerhans cell histiocytosis (n=1), and chronic myeloid leukemia (n=1).\u00a0<\/p>\n

The investigators found that most hematologic malignancies (74%) did not occur after cytotoxic therapy, and they often responded to usual treatment regimens. However, they noted that a subset of patients experienced unusual, severe, or late toxicities, such as decitabine-induced acute respiratory distress syndrome, severe cerebellar toxicity with Hyper-CVAD, severe myelosuppression with 6-mercaptopurine, facial and arm<\/p>\n

\u201c<\/p>\n

Hematologic malignancies account for 4%-10% of cancers in individuals with Li-Fraumeni syndrome, but their phenotypic spectrum and clinical outcomes remain incompletely characterized.<\/p>\n

numbness and weakness after low-dose cytarabine, and immune-mediated adverse events following hematopoietic stem-cell transplantation.<\/p>\n

\u201cThese findings support use of standard [hematologic malignancy] treatments in patients with [Li-Fraumeni syndrome] while monitoring for unique toxicities and awareness of and access to genetic testing for [Li-Fraumeni syndrome] in both myeloid and lymphoid [hematologic malignancy] settings and suggest that hypomethylating agents followed by stem-cell transplant may be viable for [Li-Fraumeni syndrome]-associated myelodysplastic syndrome and AML.\u201d<\/p>\n

Disclosure: Some study author(s) declared affiliations with biotech, pharmaceutical, and\/or device companies. Please see the original reference for a full list of authors\u2019 disclosures.\u00a0\u00a0<\/p>\n","protected":false},"excerpt":{"rendered":"A study characterizing hematologic malignancies in Li-Fraumeni Syndrome has identified 10 different subtypes, with most occurring de novo,…\n","protected":false},"author":2,"featured_media":104346,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[50],"tags":[200,79],"class_list":["post-104345","post","type-post","status-publish","format-standard","has-post-thumbnail","category-genetics","tag-genetics","tag-science"],"_links":{"self":[{"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/posts\/104345","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/comments?post=104345"}],"version-history":[{"count":0,"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/posts\/104345\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/media\/104346"}],"wp:attachment":[{"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/media?parent=104345"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/categories?post=104345"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/tags?post=104345"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}