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Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.

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102 hot topic(s) found with the query "Leukemia"

Super-precise CRISPR tool enters US clinical trials for the first time.
Heidi Ledford et al. Nature 2023 9 (Posted: Sep 20, 2023 7AM)

From the article: "A high-precision successor to CRISPR genome editing has reached a milestone: the technique, called base editing, has made its US debut in a clinical trial. The trial tests more complex genome edits than those performed in humans to date. Trial organizers announced that the first participant had been treated using immune cells with four base-edited genes, equipping the cells to better target and destroy tumors. The hope is that the approach can tame trial participants’ difficult-to-treat form of leukemia and serve as a gateway to more complex edits in the future. "

Older Patients With AML Less Likely to Receive Genomic Testing, Study Finds
P Steinzor, AJMC, August 29, 2023 (Posted: Sep 01, 2023 7AM)

From the article: "In a real-world setting of new and emerging targeted therapies, a study found that patients with acute myeloid leukemia (AML) had unmet needs that hindered their ability to receive genomic testing and treatment options, especially for older patients with AML. The analysis showed 13% of newly diagnosed patients with AML had evidence of a genomic sequencing report, which increased to 37% since 2016. Additionally, genomic testing was more likely to be performed in patients 60 years and younger compared with patients over 60 years."

A Revolution Is Coming to Medicine. Who Will It Leave Out?
J Tabery, NY Times, August 5, 2023 (Posted: Aug 07, 2023 9AM)

There are some diseases for which genetics is truly saving lives; in particular, patients with rare diseases like spinal muscular atrophy and certain cancers such as chronic myelogenous leukemia may now be prescribed personalized medicine treatments that simply didn’t exist a couple of decades ago. For most patients with most diseases, though, the lofty promises have failed to materialize.

Telomere Length and Clonal Hematopoiesis.
George Vassiliou et al. N Engl J Med 2023 5 (26) 2481-2484 (Posted: Jun 29, 2023 7AM)

A recent study proposes a key role for telomere maintenance in the development of clonal hematopoiesis. Some persons with clonal hematopoiesis are at increased risk for the development of myeloid cancers such as acute myeloid leukemia or myelodysplastic syndromes, a risk that increases as the hematopoietic clone expands in size.16 Stopping this expansion may delay or avert leukemic progression, and therapeutic approaches to this end are being developed and tested.

Pharmacotypes across the genomic landscape of pediatric acute lymphoblastic leukemia and impact on treatment response.
Lee Shawn H R et al. Nature medicine 2023 1 (Posted: Jan 09, 2023 5AM)

Analyzing samples from 805 children with newly diagnosed ALL from three consecutive clinical trials, we determined the ex vivo sensitivity of primary leukemia cells to 18 therapeutic agents across 23 molecular subtypes defined by leukemia genomics. There was wide variability in drug response, with favorable ALL subtypes exhibiting the greatest sensitivity to L-asparaginase and glucocorticoids. Leukemia sensitivity to these two agents was highly associated with MRD although with distinct patterns and only in B cell ALL.

Association of Inherited Genetic Factors With Drug-Induced Hepatic Damage Among Children With Acute Lymphoblastic Leukemia.
Yang Wenjian et al. JAMA network open 2022 12 (12) e2248803 (Posted: Dec 31, 2022 6AM)

In this genetic association study of 3557 children, adolescents, and young adults receiving ALL therapy, variants in UGT1A1 and PNPLA3 were associated with hyperbilirubinemia and elevated alanine aminotransferase and aspartate aminotransferase levels, respectively. A polygenic risk score–based analysis demonstrated that the UGT1A1 variant was the primary driver of elevated bilirubin levels, while other genetic variants contributed to aminotransferase levels even after adjusting for PNPLA3.

Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features.
Robbe Pauline et al. Nature genetics 2022 11 (Posted: Nov 06, 2022 8AM)

We report the whole-genome sequencing of 485 chronic lymphocytic leukemia patients enrolled in clinical trials as part of the United Kingdom’s 100,000 Genomes Project. We identify an extended catalog of recurrent coding and noncoding genetic mutations that represents a source for future studies and provide the most complete high-resolution map of structural variants, copy number changes and global genome features including telomere length, mutational signatures and genomic complexity. We demonstrate the relationship of these features with clinical outcome and show that integration of 186 distinct recurrent genomic alterations defines five genomic subgroups that associate with response to therapy.

The genomic landscape of pediatric acute lymphoblastic leukemia
SW Brady et al, Nature Genetics, September 1, 2022 (Posted: Sep 01, 2022 2PM)

Using whole-genome, exome and transcriptome sequencing of 2,754?childhood patients with ALL, we find that, despite a generally low mutation burden, ALL cases harbor a median of four putative somatic driver alterations per sample, with 376?putative driver genes identified varying in prevalence across ALL subtypes. Most samples harbor at least one rare gene alteration, including 70?putative cancer driver genes associated with ubiquitination, SUMOylation, noncoding transcripts and other functions.

Unified classification and risk-stratification in Acute Myeloid Leukemia.
Tazi Yanis et al. Nature communications 2022 8 (1) 4622 (Posted: Aug 09, 2022 6AM)

Clinical recommendations for Acute Myeloid Leukemia (AML) classification and risk-stratification remain heavily reliant on cytogenetic findings at diagnosis, which are present in <50% of patients. Using comprehensive molecular profiling data from 3,653 patients we characterize and validate 16 molecular classes describing 100% of AML patients. Each class represents diverse biological AML subgroups, and is associated with distinct clinical presentation, likelihood of response to induction chemotherapy, risk of relapse and death over time

Molecular map of chronic lymphocytic leukemia and its impact on outcome.
Knisbacher Binyamin A et al. Nature genetics 2022 8 (Posted: Aug 05, 2022 8AM)

We integrated genomic, transcriptomic and epigenomic data from 1,148 patients. We identified 202 candidate genetic drivers of CLL (109 new) and refined the characterization of IGHV subtypes, which revealed distinct genomic landscapes and leukemogenic trajectories. Discovery of new gene expression subtypes further subcategorized this neoplasm and proved to be independent prognostic factors. Clinical outcomes were associated with a combination of genetic, epigenetic and gene expression features.

Gut microbiome correlates of response and toxicity following anti-CD19 CAR T cell therapy
M Smith et al, Nature Medicine, March 14, 2022 (Posted: Mar 15, 2022 7AM)

We investigated the role of the intestinal microbiome on these outcomes in a multicenter study of patients with B cell lymphoma and leukemia. We found in a retrospective cohort (n?=?228) that exposure to antibiotics, in particular piperacillin/tazobactam, meropenem and imipenem/cilastatin (P-I-M), in the 4 weeks before therapy was associated with worse survival and increased neurotoxicity. In stool samples from a prospective cohort of CAR T cell recipients (n?=?48), the fecal microbiome was altered at baseline compared to healthy controls. Stool sample profiling by 16S ribosomal RNA and metagenomic shotgun sequencing revealed that clinical outcomes were associated with differences in specific bacterial taxa and metabolic pathways.

Genetic Ancestry and Childhood Acute Lymphoblastic Leukemia Subtypes and Outcomes in the Genomic Era.
Rabin Karen R et al. JAMA oncology 2022 1 (Posted: Jan 28, 2022 4PM)

Racial and ethnic differences have long been recognized in both the incidence of childhood acute lymphoblastic leukemia (ALL) subtypes and in treatment outcomes. However, comprehensive modern studies in this area are lacking, despite substantial advances in other areas of ALL research in the past decade. Next-generation sequencing has led to a dramatic expansion in the taxonomy of ALL, particularly in B-cell ALL. The uncharacterized B-other category has steadily shrunk as numerous novel alterations have been identified based on a variety of alterations, including cryptic gene rearrangements, gene expression signatures, and point variants.

Association of Genetic Ancestry With the Molecular Subtypes and Prognosis of Childhood Acute Lymphoblastic Leukemia.
Lee Shawn H R et al. JAMA oncology 2022 1 (Posted: Jan 28, 2022 4PM)

Cellular and humoral Immune response to mRNA COVID-19 vaccination in subjects with chronic lymphocytic leukemia
ZL Lyski et al, MEDRXIV, November 5, 2021 (Posted: Nov 06, 2021 9AM)

Association of Combined Focal 22q11.22 Deletion and IKZF1 Alterations With Outcomes in Childhood Acute Lymphoblastic Leukemia
DS Mangum et al, JAMA Oncology, August 19, 2021 (Posted: Aug 20, 2021 9AM)

In this cohort study of 1310 patients with B-ALL in 6 independent cohorts, focal 22q11.22 deletions were common (39.5%) in B-ALL and, when co-occurring with IKZF1 alterations, were associated with poor outcomes compared with patients with IKZF1 alterations alone (5-year event-free survival rates, 43.3% vs 68.5%; 5-year overall survival rates, 66.9% vs 83.9%).

Gene therapy trials for sickle cell disease halted after two patients develop cancer
J Kaiser, Science, February 16, 2021 (Posted: Feb 22, 2021 4PM)

A company has stopped its clinical studies of a promising gene therapy for the blood disorder sickle cell disease after two people who participated developed leukemia-like cancer. The company is now investigating whether a virus it uses to deliver a therapeutic gene caused the cancers, reviving old concerns about the risks of this approach.

Precision medicine treatment in acute myeloid leukemia using prospective genomic profiling: feasibility and preliminary efficacy of the Beat AML Master Trial
A Burd et al, Nature Medicine, October 26, 2020 (Posted: Oct 27, 2020 8AM)

Preliminary results from the Beat AML umbrella trial demonstrates the feasibility and efficacy of applying prospective genomic profiling for matching newly diagnosed patients with AML with targeted therapies.

'Great News': CAR T Cells Are Effective and Safe in Babies
R Nelson, Medscape, December 2019 (Posted: Dec 16, 2019 7AM)

Chimeric antigen receptor (CAR) T-cell therapy has been hailed as "truly a game changer for pediatric leukemia," and new data show that this novel therapy can be used even in the smallest of patients ? in 1-year-old babies.

CRISPR-Edited Stem Cells in a Patient with HIV and Acute Lymphocytic Leukemia.
Xu Lei et al. The New England journal of medicine 2019 Sep (Posted: Sep 12, 2019 7AM)

Enhanced CAR T cell expansion and prolonged persistence in pediatric patients with ALL treated with a low-affinity CD19 CAR
S Ghorashian et al, Nature Medicine, September 2, 2019 (Posted: Sep 03, 2019 8AM)

In a clinical study (CARPALL, NCT02443831), 12/14 patients with relapsed/refractory pediatric B cell acute lymphoblastic leukemia treated with CAT CAR T cells achieved molecular remission. Persistence was demonstrated in 11 of 14 patients at last follow-up.

Insight into genetic predisposition to chronic lymphocytic leukemia from integrative epigenomics.
Speedy Helen E et al. Nature communications 2019 Aug (1) 3615 (Posted: Aug 12, 2019 8AM)

Cost-Effectiveness of Chimeric Antigen Receptor T-Cell Therapy in Pediatric Relapsed/Refractory B-Cell Acute Lymphoblastic Leukemia.
Sarkar Reith R et al. Journal of the National Cancer Institute 2018 Dec (Posted: Dec 30, 2018 9AM)

Test Detects One in a Million Cancer Cells
R Voelker, JAMA, November 6, 2018 (Posted: Nov 08, 2018 9AM)

FDA authorizes first next generation sequencing-based test to detect very low levels of remaining cancer cells in patients with acute lymphoblastic leukemia or multiple myeloma
FDA Press Release, September 28, 2018 (Posted: Sep 30, 2018 9PM)

Genetics and epigenetics of pediatric leukemia in the era of precision medicine.
Ramos Kristie N et al. F1000Research 2018 (Posted: Aug 10, 2018 11AM)

Roots of leukaemia reveal possibility of predicting people at risk- Mutations in blood identify individuals at high risk of developing leukaemia
Sanger Institute, July 9, 2018 (Posted: Jul 10, 2018 8AM)

Somatic mutations precede acute myeloid leukemia years before diagnosis
P Desai et al, Nature Medicine, July 9, 2018 (Posted: Jul 10, 2018 8AM)

TARGET Study Finds Major Differences between Childhood and Adult AML
NCI, Jan 30, 2018 Brand (Posted: Jan 30, 2018 3PM)

Next-Generation Sequencing and Detection of Minimal Residual Disease in Acute Myeloid Leukemia Ready for Clinical Practice?
F Pastore et al, JAMA, Sep 2017 (Posted: Sep 06, 2017 8AM)

FDA Approves First CAR-T Cell Therapy for Pediatric Acute Lymphoblastic Leukemia
NIH Director's blog, September, 2p017 Brand (Posted: Sep 04, 2017 8AM)

F.D.A. Approves First Gene-Altering Leukemia Treatment, Costing $475,000
D Grady, NY Times, August 30, 2017 (Posted: Aug 31, 2017 7AM)

F.D.A. Panel Recommends Approval for Gene-Altering Leukemia Treatment
D Grady, New York Times, July 13, 2017 (Posted: Jul 12, 2017 8PM)

Prognostic Importance of C-KIT Mutations in Core Binding Factor Acute Myeloid Leukemia: A Systematic Review.
Ayatollahi Hossein et al. Hematology/oncology and stem cell therapy 2017 Mar (1) 1-7 (Posted: Jun 07, 2017 8AM)

Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel.
Döhner Hartmut et al. Blood 2017 Jan (4) 424-447 (Posted: Jun 07, 2017 8AM)

CONNECT registry shows only 9 percent compliance with genetic testing guidelines for AML
Science Mag, June 5, 2017 (Posted: Jun 07, 2017 8AM)

Initial Diagnostic Workup of Acute Leukemia: Guideline From the College of American Pathologists and the American Society of Hematology.
Arber Daniel A et al. Archives of pathology & laboratory medicine 2017 Feb (Posted: Mar 01, 2017 10AM)

Acute Myeloid Leukemia — Many Diseases, Many Treatments
E Esley, NEJM, November 25, 2016 (Posted: Nov 26, 2016 7PM)

Spot the difference: genomic sub-types of leukaemia
Genomics Education Program UK, June 13, 2016 (Posted: Jun 13, 2016 8AM)

Roads Diverge — A Robert Frost View of Leukemia Development
AD Vinny. NEJM, June 8, 2016 (Posted: Jun 08, 2016 6PM)

Genomic Classification and Prognosis in Acute Myeloid Leukemia
Elli Papaemmanuil et al, NEJM, June 8, 2016 (Posted: Jun 08, 2016 6PM)

Toward Individualized Therapy in Acute Myeloid Leukemia: Contemporary Review
TM Kadia et al. JAMA Oncology, September 16, 2015 (Posted: Sep 17, 2015 3PM)

Association Between Mutation Clearance After Induction Therapy and Outcomes in Acute Myeloid Leukemia.
Klco Jeffery M et al. JAMA 2015 Aug 25. 314(8) 811-822 (Posted: Aug 28, 2015 4PM)

Next-Generation Sequencing and Detection of Minimal Residual Disease in Acute Myeloid Leukemia: Ready for Clinical Practice?
Pastore Friederike et al. JAMA 2015 Aug 25. 314(8) 778-780 (Posted: Aug 28, 2015 4PM)

Why Is Progress in Acute Myeloid Leukemia So Slow?
Estey Elihu et al. Semin. Hematol. 2015 Jul (3) 243-8 (Posted: Aug 28, 2015 4PM)

Epigenetic regulators as promising therapeutic targets in acute myeloid leukemia.
Gallipoli Paolo et al. Ther Adv Hematol 2015 Jun (3) 103-19 (Posted: Aug 28, 2015 4PM)

Toward Individualized Therapy in Acute Myeloid Leukemia: A Contemporary Review.
Kadia Tapan M et al. JAMA Oncol 2015 Apr 30. (Posted: Aug 28, 2015 4PM)

The transcriptomic landscape and directed chemical interrogation of MLL-rearranged acute myeloid leukemias.
Lavallée Vincent-Philippe et al. Nat. Genet. 2015 Sep (9) 1030-1037 (Posted: Aug 28, 2015 4PM)

Molecular Genetic Markers in Acute Myeloid Leukemia.
Yohe Sophia et al. J Clin Med 2015 (3) 460-78 (Posted: Aug 28, 2015 4PM)

Pharmacogenetics of methotrexate in acute lymphoblastic leukaemia: why still at the bench level?
Kodidela Sunitha et al. Eur. J. Clin. Pharmacol. 2014 Mar (3) 253-60 (Posted: Jun 01, 2015 11AM)

Pharmacogenetics of microRNAs and microRNAs biogenesis machinery in pediatric acute lymphoblastic leukemia.
López-López Elixabet et al. PLoS ONE 2014 (3) e91261 (Posted: Jun 01, 2015 11AM)

Pharmacogenetic considerations for acute lymphoblastic leukemia therapies.
Dulucq Stéphanie et al. Expert Opin Drug Metab Toxicol 2014 May (5) 699-719 (Posted: Jun 01, 2015 11AM)

Comparative pharmacogenetic analysis of risk polymorphisms in Caucasian and Vietnamese children with acute lymphoblastic leukemia: prediction of therapeutic outcome?
Hoang Phuong Thu Vu et al. Br J Clin Pharmacol 2015 Mar (3) 429-40 (Posted: Jun 01, 2015 11AM)

Pharmacogenetics of childhood acute lymphoblastic leukemia.
Lopez-Lopez Elixabet et al. Pharmacogenomics 2014 Jul (10) 1383-98 (Posted: Jun 01, 2015 11AM)

Thiopurine dose intensity and treatment outcome in childhood lymphoblastic leukaemia: the influence of thiopurine methyltransferase pharmacogenetics.
Lennard Lynne et al. Br. J. Haematol. 2015 Apr (2) 228-40 (Posted: Jun 01, 2015 11AM)

Genomic and pharmacogenetic studies of childhood acute lymphoblastic leukemia.
Pui Ching-Hon et al. Front Med 2015 Mar (1) 1-9 (Posted: Jun 01, 2015 11AM)

Pharmacogenetics predictive of response and toxicity in acute lymphoblastic leukemia therapy.
Mei Lin et al. Blood Rev. 2015 Jan 10. (Posted: Jun 01, 2015 11AM)

The Pharmacogenomics of Vincristine-Induced Neuropathy: On Pins and Needles
SL Berg et al. JAMA Oncology, May 29, 2015 (Posted: Jun 01, 2015 11AM)

Applying Molecular Epidemiology in Pediatric Leukemia.
Schiffman Joshua D et al. J. Investig. Med. 2015 May 13. (Posted: May 22, 2015 6PM)

The utility of next-generation sequencing in diagnosis and monitoring of acute myeloid leukemia and myelodysplastic syndromes.
Duncavage E J et al. Int J Lab Hematol 2015 May 115-21 (Posted: May 18, 2015 2PM)

Genomics of racial and ethnic disparities in childhood acute lymphoblastic leukemia.
Lim Joshua Yew-Suang et al. Cancer 2014 Apr 1. (7) 955-62 (Posted: Apr 07, 2015 2PM)

How Genomics Is Shaping Precision Medicine in Oncology
Brand (Posted: Jan 11, 2014 11AM)

The following is the latest in a series of posts from senior NCI scientists and leaders on NCI?s Annual Plan and Budget Proposal for Fiscal Year 2017, which was officially submitted to the President on September 17, 2015. The proposal provides an overview of NCI?s priorities and key initiatives and the institute?s funding request for the President to consider in formulating his own Fiscal Year (FY) 2017 budget proposal. In this post, Louis M. Staudt, M.D., Ph.D., director of NCI?s Center for Cancer Genomics, discusses the principles of precision medicine and how they are being applied to improve the treatment of lymphoma. The phrase ?precision medicine? often refers to the emerging practice of using information about a patient?s tumor to diagnose or treat his or her disease. In this approach, physicians select the most appropriate treatments for patients based on their knowledge of the molecular abnormalities, such as genetic mutations, in the patients? tumors. The concept of precision medicine is not new. But cancer is fundamentally a disease of the genome, and efforts in precision medicine have accelerated over the past decade with the introduction of newer and cheaper technologies for sequencing DNA. These technological advances have facilitated research on the biology of cancer cells, leading to the discovery of potential diagnostic markers and therapeutic targets. At the same time, a new generation of clinical trials, guided by tumor profiling and genetic testing, has emerged to begin to translate the basic discoveries into new diagnostic tests and targeted therapies. As early successes in the field of precision medicine?such as the development of imatinib for chronic myelogenous leukemia?have illustrated, insights into the molecular machinery of a cancer cell can lead to therapies that target tumor cells while largely sparing normal cells. For patients, this selectivity may result in fewer toxic side effects than are associated with traditional treatments such as chemotherapy. An emerging example from work in my lab at NCI involves the most common type of lymphoma, diffuse large B-cell lymphoma (DLBCL). This research offers a window into how studying differences between cancer cells and normal cells can ultimately lead to new and more effective treatments for patients with cancer. The story began a few years ago, when my team used genetic tools to identify two molecularly distinct subtypes of DLBCL?the activated B-cell-like (ABC) subtype and the germinal center B-cell-like (GCB) subtype. Until that point, DLBCL had been considered a single disease. The discovery that DLBCL actually consists of two primary subtypes suggested to us that it might be possible to develop targeted therapies for patients with each form of the disease. CT cross-section scans of abdomen with left image showing lymphoma highlighted in yellow and right image showing disappearance of cancer after 8 weeks on cancer drug ibrutinib. Before-and-after images of tumors in a patient with the ABC subtype of diffuse large B-cell lymphoma treated with ibrutinib. Credit: National Cancer Institute Our research on the signaling pathways involved in the development of different types of DLBCL led to us focus on a drug called ibrutinib (Imbruvica®), which targets an enzyme called Bruton?s tyrosine kinase (BTK). The enzyme plays a pivotal role in signaling by the B-cell receptor, which normal B lymphocytes use to respond to foreign antigens in the environment. Our laboratory studies showed that B-cell receptor signaling is required for the survival and proliferation of cell line models of the ABC subtype of DLBCL but not models of GCB DLBCL. Treatment of the ABC cell lines with ibrutinib killed them while the GCB lines were unaffected. These laboratory findings led us to investigate the activity of ibrutinib in patients with specific subtypes of DLBCL. Last summer, we reported results from a clinical trial showing that patients with the ABC subtype of DLBCL were much more likely to respond to the drug than patients with the GCB subtype, as we predicted. The trial was one of the first clinical studies to demonstrate the importance of precision medicine for patients with lymphoma. The trial also illustrates how insights from basic cancer research?such as the discovery of previously unknown lymphoma subtypes?can be the foundation for a hallmark of precision medicine: developing therapies for patients whose cancers share certain characteristics. Based on these results, an international phase III study has been launched to determine whether the addition of ibrutinib to standard chemotherapy can improve the cure rate among patients with the ABC subtype of DLBCL. The trial will test standard chemotherapy with or without ibrutinib in patients with DLBCL, excluding the GCB subtype. The story is far from over. More research is under way to refine our diagnostic categories and to develop additional targeted therapies for patients with different subtypes of lymphoma. Similar work focused on many other types of cancer is taking place in laboratories and at medical centers around the world, often through collaborative research projects. Many of these projects are focused on an important frontier in precision medicine: the development of combination therapies. Most cancer cells use more than one molecular pathway to promote their malignant proliferation and survival. Often, when only one pathway is blocked by a drug, another pathway takes over to keep the cancer cell alive and dividing rapidly. By combining several targeted drugs into one therapeutic regimen, we can disrupt these ?bypass? mechanisms, potentially leading to better results for our patients. The mantra of precision medicine is ?divide and conquer.? That is, divide cancers into molecular subtypes, and treat them with drugs that target the abnormal biological mechanisms that define each subtype. Many of us believe that this rational approach, based on a deep understanding of cancer genetics and mechanisms, will be necessary for the successful conquest of cancer.

Fanconi Anemia
From NHLBI health topic site Brand (Posted: Jan 11, 2014 11AM)

What Is Fanconi anemia (fan-KO-nee uh-NEE-me-uh), or FA, is a rare, inherited blood disorder that leads to bone marrow failure. The disorder also is called Fanconi?s anemia. FA prevents your bone marrow from making enough new blood cells for your body to work normally. FA also can cause your bone marrow to make many faulty blood cells. This can lead to serious health problems, such as leukemia (a type of blood cancer). Although FA is a blood disorder, it also can affect many of your body's organs, tissues, and systems. Children who inherit FA are at higher risk of being born with birth defects. FA also increases the risk of some cancers and other serious health problems. FA is different from Fanconi syndrome. Fanconi syndrome affects the kidneys. It's a rare and serious condition that mostly affects children. Children who have Fanconi syndrome pass large amounts of key nutrients and chemicals through their urine. These children may have serious health and developmental problems. Bone Marrow and Blood Bone marrow is the spongy tissue inside the large bones of your body. Healthy bone marrow contains stem cells that develop into the three types of blood cells that the body needs: ?Red blood cells, which carry oxygen to all parts of your body. Red blood cells also remove carbon dioxide (a waste product) from your body's cells and carry it to the lungs to be exhaled. ?White blood cells, which help fight infections. ?Platelets (PLATE-lets), which help your blood clot. It's normal for blood cells to die. The lifespan of red blood cells is about 120 days. White blood cells live less than 1 day. Platelets live about 6 days. As a result, your bone marrow must constantly make new blood cells. If your bone marrow can't make enough new blood cells to replace the ones that die, serious health problems can occur. Fanconi Anemia and Your Body FA is one of many types of anemia. The term "anemia" usually refers to a condition in which the blood has a lower than normal number of red blood cells. FA is a type of aplastic anemia. In aplastic anemia, the bone marrow stops making or doesn't make enough of all three types of blood cells. Low levels of the three types of blood cells can harm many of the body's organs, tissues, and systems. With too few red blood cells, your body's tissues won't get enough oxygen to work well. With too few white blood cells, your body may have problems fighting infections. This can make you sick more often and make infections worse. With too few platelets, your blood can?t clot normally. As a result, you may have bleeding problems. Outlook People who have FA have a greater risk than other people for some cancers. About 10 percent of people who have FA develop leukemia. People who have FA and survive to adulthood are much more likely than others to develop cancerous solid tumors. The risk of solid tumors increases with age in people who have FA. These tumors can develop in the mouth, tongue, throat, or esophagus (eh-SOF-ah-gus). (The esophagus is the passage leading from the mouth to the stomach.) Women who have FA are at much greater risk than other women of developing tumors in the reproductive organs. FA is an unpredictable disease. The average lifespan for people who have FA is between 20 and 30 years. The most common causes of death related to FA are bone marrow failure, leukemia, and solid tumors. Advances in care and treatment have improved the chances of surviving longer with FA. Blood and marrow stem cell transplant is the major advance in treatment. However, even with this treatment, the risk of some cancers is greater in people who have FA.

Acute lymphoblastic leukemia
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Acute lymphoblastic leukemia congenital sporadic aniridia
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Acute megakaryoblastic leukemia
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Acute monoblastic leukemia
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Acute myeloblastic leukemia without maturation
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Acute myeloblastic leukemia with maturation
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Acute myelomonocytic leukemia
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Acute non lymphoblastic leukemia
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Acute promyelocytic leukemia
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Chronic lymphocytic leukemia
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Chronic myeloid leukemia
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Hairy cell leukemia
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Leukemia subleukemic
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Pediatric T-cell leukemia
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Philadelphia-negative chronic myeloid leukemia
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

B cell prolymphocytic leukemia
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Leukemia, T-cell, chronic
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Chronic myelomonocytic leukemia
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Myeloid leukemia
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Leukemia, B-cell, chronic
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Acute leukemia of ambiguous lineage
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Childhood acute lymphoblastic leukemia
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Plasma cell leukemia
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Acute erythroid leukemia
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Human T-cell leukemia virus type 1
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Human T-cell leukemia virus type 2
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Human T-cell leukemia virus type 3
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Large granular lymphocyte leukemia
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Juvenile myelomonocytic leukemia
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Myelocytic leukemia-like syndrome, familial, chronic
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Aggressive NK cell leukemia
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Chronic neutrophilic leukemia
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

PDGFRB-associated chronic eosinophilic leukemia
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Acute myeloid leukemia
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Acute myeloid leukemia with recurrent genetic anomaly
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Unclassified acute myeloid leukemia
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

more


Disclaimer: Articles listed in Hot Topics of the Day are selected by Public Health Genomics Branch to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
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