RESUMEN
BACKGROUND: Oncological care was considerably impacted by the COVID-19 pandemic. Worrisome declines in diagnostic procedures and cancer diagnoses in 2020 have been reported; however, nationwide, population-based evidence is limited. Quantification of the magnitude and distribution of the remaining outstanding diagnoses is likewise lacking. METHODS: Using accelerated delivery of data from pathology laboratories to the Belgian Cancer Registry, we compared the nationwide rates of new diagnoses of invasive cancers in 2020 to 2019. RESULTS: We observed a 44% reduction in total diagnoses of invasive cancers in April 2020 compared with April 2019, coinciding with the first wave of the COVID-19 pandemic. The reduction was largest in older patients and for skin cancers (melanoma and nonmelanoma). Reductions in diagnosis were less pronounced among children and adolescents (0-19 years). A smaller decline was observed for most cancers with typically poorer prognosis or obvious symptoms, including some hematological malignancies, lung, and pancreatic cancer. Suspension of organized population screening programs was reflected in a strong decline in diagnosis in the screening age groups for female breast cancer (56%) and for colorectal cancer in both men (49%) and women (60%). The number of diagnoses began to increase from the end of April and stabilized at the beginning of June at or just above 2019 levels. There has yet to be a complete recovery in cancer diagnoses, with an estimated 6%, or â¼4000 diagnoses, still outstanding for all of 2020. Among solid tumors, head and neck cancers have the largest remaining year-over-year decrease in diagnoses at 14%. CONCLUSION: These results add to the evidence of a profound impact of the COVID-19 pandemic on oncological care and identify groups at risk for continuing diagnostic delays. These data should stimulate health care providers worldwide to facilitate targeted, accessible, and efficient procedures for detection of cancers affected by this delay.
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Neoplasias de la Mama , COVID-19 , Adolescente , Anciano , Bélgica/epidemiología , Niño , Femenino , Humanos , Masculino , Pandemias , SARS-CoV-2RESUMEN
Aneurysmal bone cystic (ABC) lesions can be primary or secondary (to a trauma or a pre-existing benign or malignant tumour). Specific translocations of the USP6 gene are reported in about 70% of primary but never in secondary ABC lesions. We report two cases of ABC lesions in which imbalanced genomic aberrations were detected at initial presentation and showed complex clonal evolution. These demonstrative observations strengthen the guidelines regarding the diagnostic approach when an ABC is suggested by imaging. Biopsy is mandatory including genomic analysis. When a primary ABC is not clearly proven by the initial biopsy, an extensive curettage should be performed, with pathological examination of all removed tissue in order to exclude a secondary ABC. It also illustrates the added value of genomic analyses in the setting of an ABC lesion: complex clonal aberrations argues for a lesion secondary to a malignant proliferation whereas USP6 rearrangement allows the diagnosis of primary ABC.
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Quistes Óseos Aneurismáticos/genética , Proteínas Proto-Oncogénicas c-mdm2/genética , Proteínas Proto-Oncogénicas/genética , Ubiquitina Tiolesterasa/genética , Adolescente , Quistes Óseos Aneurismáticos/diagnóstico por imagen , Quistes Óseos Aneurismáticos/patología , Quistes Óseos Aneurismáticos/cirugía , Femenino , Pruebas Genéticas , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , Imagen por Resonancia Magnética , Masculino , RadiografíaRESUMEN
BACKGROUND: Solitary extramedullary plasmacytoma (SEP) is a rare malignant neoplasm arising from plasma cells. SEP mostly occurs in the upper respiratory tract. Thyroid gland is rarely affected (<78 cases). METHODS/RESULTS: We describe the case of a 78-year-old woman presenting a rapidly enlarging palpable thyroid mass. Neck computed tomography scan showed enlargement of both thyroid lobes. Laboratory tests were normal, including serum protein level with no monoclonal gamma globulin peak. Cytology was suspicious for lymphoma. Biopsy showed an infiltrating neoplasm composed of atypical tumor cells with abundant cytoplasm and eccentric nuclei. These revealed diffuse immunoreactivity for CD138 and predominant staining for immunoglobulin kappa light chains. Clinical workup for multiple myeloma was negative. CONCLUSIONS: SEP should be considered in the differential diagnosis of a rapidly enlarging thyroid nodule and be distinguished from involvement of thyroid in multiple myeloma, mucosa-associated lymphoid tissue lymphoma, plasma cell granuloma and medullary carcinoma. Clinical correlation and immunohistochemistry are crucial in avoiding pitfalls.
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Plasmacitoma/patología , Neoplasias de la Tiroides/patología , Anciano , Carcinoma Neuroendocrino , Diagnóstico Diferencial , Femenino , Humanos , Células Plasmáticas/patología , Plasmacitoma/sangre , Plasmacitoma/química , Plasmacitoma/diagnóstico , Neoplasias de la Tiroides/sangre , Neoplasias de la Tiroides/química , Neoplasias de la Tiroides/diagnósticoAsunto(s)
Antineoplásicos/uso terapéutico , Trastornos Mieloproliferativos/tratamiento farmacológico , Trastornos Mieloproliferativos/genética , Proteínas de Fusión Oncogénica/genética , Piperazinas/uso terapéutico , Pirimidinas/uso terapéutico , Receptor beta de Factor de Crecimiento Derivado de Plaquetas/genética , Trombocitosis/etiología , Proteínas Supresoras de Tumor/genética , Proteínas Adaptadoras Transductoras de Señales , Anciano , Benzamidas , Cromosomas Humanos Par 5/genética , Cromosomas Humanos Par 9/genética , Proteínas del Citoesqueleto , Humanos , Mesilato de Imatinib , Hibridación Fluorescente in Situ , Masculino , Trastornos Mieloproliferativos/complicaciones , Trombocitosis/tratamiento farmacológico , Translocación GenéticaRESUMEN
We report on an acute myeloid leukemia in a neonate whose mother was exposed to diethylstilboestrol in utero. The newborn presented with leukemia cutis, hemorrhagic skin lesions, hyperleucocytosis and disseminated intravascular coagulation. A bone marrow examination confirmed the diagnosis of acute monocytic leukemia with a t(11;19) MLL-ELL fusion transcript. Chemotherapy was initiated but the child developed a bilateral pulmonary infection that led to fatal respiratory distress. This case shows acute myeloid leukemia and the third pediatric leukemia reported after maternal diethylstilboestrol exposure.
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Dietilestilbestrol/efectos adversos , Estrógenos no Esteroides/efectos adversos , Leucemia Mieloide Aguda/inducido químicamente , Efectos Tardíos de la Exposición Prenatal/inducido químicamente , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Femenino , Humanos , Hibridación Fluorescente in Situ , Recién Nacido , Infertilidad Femenina/inducido químicamente , Leucemia Mieloide Aguda/tratamiento farmacológico , Leucemia Mieloide Aguda/genética , Masculino , Madres , Proteína de la Leucemia Mieloide-Linfoide , Proteínas de Fusión Oncogénica , Linaje , Embarazo , Reacción en Cadena de la Polimerasa de Transcriptasa InversaRESUMEN
Clinical studies showed that advanced stage, high LDH, poor response to reduction therapy and combined bone marrow and central nervous system disease are significantly associated with a decreased event-free survival (EFS) in pediatric mature B-cell non-Hodgkin's lymphoma (B-NHL) treated on FAB/LMB96. Although rearranged MYC/8q24 (R8q24) is characteristic of Burkitt lymphoma (BL), little information is available on other cytogenetic abnormalities and their prognostic importance. We performed an international review of 238 abnormal karyotypes in childhood mature B-NHL treated on FAB/LMB96: 76% BL, 8% Burkitt-like lymphoma, 13% diffuse large B-cell lymphoma (DLBCL). The main BL R8q24-associated chromosomal aberrations were +1q (29%), +7q and del(13q) (14% each). The DLBCL appeared heterogeneous and more complex. Incidence of R8q24 (34%) was higher than reported in adult DLBCL. The prognostic value of cytogenetic abnormalities on EFS was studied by Cox model controlling for the known risk factors: R8q24, +7q and del(13q) were independently associated with a significant inferior EFS (hazard ratio: 6.1 (P=0.030), 2.5 (P=0.015) and 4.0 (P=0.0003), respectively). The adverse prognosis of R8q24 was observed only in DLBCL, whereas del(13q) and +7q had a similar effect in DLBCL and BL. These results emphasize the significant biological heterogeneity and the development of cytogenetic risk-adapted therapy in childhood mature B-NHL.
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Aberraciones Cromosómicas , Linfoma de Células B/genética , Adolescente , Linfoma de Burkitt/genética , Linfoma de Burkitt/mortalidad , Niño , Preescolar , Supervivencia sin Enfermedad , Femenino , Humanos , Linfoma de Células B/epidemiología , Linfoma de Células B/mortalidad , Linfoma de Células B Grandes Difuso/genética , Linfoma de Células B Grandes Difuso/mortalidad , Masculino , Pronóstico , Modelos de Riesgos Proporcionales , Ensayos Clínicos Controlados Aleatorios como Asunto , Adulto JovenRESUMEN
Episomes with the NUP214-ABL1 fusion gene have been observed in 6% of T-ALL. In this multicentric study we collected 27 cases of NUP214-ABL1-positive T-ALL. Median age was 15 years with male predominance. Outcome was poor in 12 patients. An associated abnormality involving TLX1 or TLX3 was found in all investigated cases. Fluorescent in situ hybridization revealed a heterogeneous pattern of NUP214-ABL1 amplification. Multiple episomes carrying the fusion were detected in 24 patients. Episomes were observed in a significant number of nuclei in 18 cases, but in only 1-5% of nuclei in 6. In addition, intrachromosomal amplification (small hsr) was identified either as the only change or in association with episomes in four cases and two T-ALL cell lines (PEER and ALL-SIL). One case showed insertion of apparently non-amplified NUP214-ABL1 sequences at 14q12. The amplified sequences were analyzed using array-based CGH.These findings confirm that the NUP214-ABL1 gene requires amplification for oncogenicity; it is part of a multistep process of leukemogenesis; and it can be a late event present only in subpopulations. Data also provide in vivo evidence for a model of episome formation, amplification and optional reintegration into the genome. Implications for the use of kinase inhibitors are discussed.