Oral manifestations of leukemia as part of early diagnosis

Quispe, Reyna Aguilar; Aguiar, Elizabeth Marques; Oliveira, Claudia; Neves, Ana Cristina Xavier; Santos, Paulo Sérgio da Silva

doi:10.1016/j.htct.2021.08.006

Cited by 14 publications

(5 citation statements)

References 45 publications

(167 reference statements)

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“…We also found a high prevalence of TINC in saliva samples for AML patients. Similarly to our finding, other studies report the oral cavity to present the first clinical manifestations of leukaemia (Quispe et al 2021), with gingival infiltration of AML cells demonstrated by biopsy (Fernandes et al 2018; Lupi et al 2018) and most commonly seen in acute monocytic leukaemia and acute myelomonocytic leukaemia (Felix and Lukens 1986; McKenna 2000). Our findings are therefore consistent with previous literature, with the adjoint value of presenting also a methodology for contamination assessment that goes beyond inspecting the frequency of specific mutations in the normal, but rather leverages the full power of modern WGS assays.…”

Section: Discussionsupporting

confidence: 90%

Clinical application of tumour-in-normal contamination assessment from whole genome sequencing

Mitchell

Bartram

Walker

et al. 2022

Preprint

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Bioinformatics pipelines designed for paired analysis of tumour and matched normal samples use germline variants detected from normal tissue samples to identify bona fide tumour somatic mutations. Unexpected contamination of normal samples with tumour cells can lead to the subtraction of genuine somatic variants, reducing variant detection sensitivity and compromising downstream analyses. Leveraging the power of whole-genome sequencing data available from the 100,000 Genomes Project at Genomics England, we developed the Tumour in Normal Contamination (TINC) tool for TIN contamination assessment. TINC was validated in silico using patient-derived whole-genome samples (R2=0.95; p<2.210-16 and R2=0.85; p<3.310-13 for expected versus observed contamination in two tumour types), and against orthogonal minimal residual disease (MRD) testing with 70 leukaemia samples. From a systematic review of whole-genome data available for 771 patients with haematological malignancies and sarcomas, we found TIN contamination (>1%) across a range of cancer clinical indications and DNA sources. The highest prevalence was among saliva samples from acute myeloid leukaemia (AML) patients (43/114 samples, 38%), and sorted CD3+ T cells from myeloproliferative neoplasms (MPN) patients (22/24 samples, 91%). Further exploration of genomic data for AML and MPN patients has revealed 108 hotspot mutations in genes with high prevalence of somatic alterations in haematological cancers (JAK2, FLT3, DNMT3A, TP53, KIT, NRAS and IDH2), 27 of which supported by at least 5% of reads in the normal sample and therefore at risk of being subtracted by standard pipeline for somatic variant calling. Our work highlights the importance of contamination assessment for accurate detection of somatic variants in both research and clinical settings. TINC allows accurate and highly sensitive quantification of contamination levels, giving confidence in the validity of the whole genome assessment of the tumour. We propose this to become an essential metric in clinic practice alongside other routine quality control measures, especially as large-scale pan-cancer sequencing projects are adopted to deliver accurate data from which to make clinical decisions for patient care.

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Section: Discussionsupporting

confidence: 90%

Clinical application of tumour-in-normal contamination assessment from whole genome sequencing

Mitchell

Bartram

Walker

et al. 2022

Preprint

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“…These characteristics raised the possibility that the bone lesions were malignant, necessitating further imaging tests to assess them and further referral to a specialized center. Complementary imaging tests like panoramic radiography and computed tomography are necessary to evaluate bone structures more thoroughly, similarly done with our patient [ 5 ].…”

Section: Discussionmentioning

confidence: 99%

“…To the best of our knowledge, there is scant literature regarding necrosis of the palate as an initial manifestation of the disease. This case remains a very rare initial presentation of the disease [ 5 ]. Before being referred to oncohematology physicians for the definitive diagnosis of leukemia, oral clinical signs continue to be the primary complaint of patients visiting dentists.…”

Section: Introductionmentioning

confidence: 99%

Acute Myeloid Leukemia Revealed by a Palatal Necrosis: A Rare Case Report

Bouanani¹,

Bouyaqine²,

Coulibaly³

et al. 2022

Cureus

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Acute myeloid leukemia (AML) is an aggressive hematological malignancy due to genetic alterations characterized by an overproduction of neoplastic clonal myeloid stem cells in both the bone marrow and peripheral blood. We report a case of a 43-year-old man referred to the department of hematology with a three-week history of palatal pain and weakness. The physical examination revealed an ecchymosis on the left hard palatal mucosa and necrosis. The maxillofacial computerized tomography (CT) scan revealed large osteolysis of the left maxillary bone and a fistulated soft palate. The lesion's biopsy showed an acute polymorphic inflammation with no sign of malignancy. Laboratory findings revealed anemia, thrombocytopenia, elevated lactic dehydrogenase, and elevated serum ferritin. The diagnosis was subsequently confirmed by a peripheral-blood smear revealing 60% of circulating blasts and bone marrow aspiration with 80% of blast infiltration. The latter was further classified through cytogenetic studies as an AML with deletion of chromosome 7q. This case report aims to highlight the need for clinicians to be aware of palatal necrosis as an initial manifestation of the disease and to emphasize the role of multidisciplinary collaboration between dental surgeons, oral and maxillofacial surgeons, and hematologists for early detection and treatment.

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“…In individuals with hematological diseases, changes in blood count (e.g., anaemia, thrombocytopenia, and neutropenia) result in repercussions in the oral cavity (Quispe et al, 2021; Watson et al, 2018). Neutropenia is associated with infection and thrombocytopenia may result in spontaneous bleeding, petechiae, and ecchymosis, known as hemorrhagic lesions (Thomaz et al, 2013; Watson et al, 2018).…”

Section: Discussionmentioning

confidence: 99%

Leukemia/lymphoma oral infiltration and its impact on disease outcomes: A Brazilian study

et al. 2022

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ObjectiveOral malignant infiltrations (OMI) are relevant for the diagnosis and prognosis of leukemia/lymphoma. This study analysed the oral health status and OMI of individuals with leukemia/lymphoma.Materials and MethodsA retrospective analysis (2010–2021) of data from individuals seen at a specialized hospital‐based dental service in Brazil.ResultsA total of 781 cases of leukemia/lymphoma were surveyed. Acute lymphoblastic leukemia (30.1%), acute myeloid leukemia (AML; 26.0%), and non‐Hodgkin lymphoma (22.2%) were the most common diagnoses. The first (21.3%) and second (19.3%) decades of life were the most affected. Overall, dental caries (36.7%) and periodontal changes (34.6%) were the most frequent oral conditions. OMI occurred in 25 (3.2%) individuals. Lesions mainly involved the gingiva (80%) and patients diagnosed with AML (64%). Death (p < 0.001) and worse periodontal condition (p = 0.036) were more frequent among adults with OMI than among those without OMI. Death (p = 0.002) was more frequent among paediatric individuals with OMI than among those without OMI. When controlling for underlying disease, no association was observed between OMI and these outcomes.ConclusionOral status of individuals with leukemia, particularly those with acute leukemia or lymphoma, should be closely monitored since one or multiple conditions may occur, including OMI, which may influence disease outcomes.

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Oral manifestations of leukemia as part of early diagnosis

Cited by 14 publications

References 45 publications

Clinical application of tumour-in-normal contamination assessment from whole genome sequencing

Clinical application of tumour-in-normal contamination assessment from whole genome sequencing

Acute Myeloid Leukemia Revealed by a Palatal Necrosis: A Rare Case Report

Leukemia/lymphoma oral infiltration and its impact on disease outcomes: A Brazilian study

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