Mutation characteristics of angioimmunoblastic T-cell lymphoma: an analysis of 75 cases / 中华病理学杂志

Objective: To investigate the characteristics of gene mutations in angioimmunoblastic T-cell lymphoma (AITL). Methods: Seventy-five AITL cases diagnosed at the Department of Pathology, Ruijin Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, China from June 2021 to June 2023 were included. Their formalin-fixed and paraffin-embedded or fresh tissues were subject to targeted next generation sequencing (NGS). The sequencing data was collected, and the distribution and type of gene mutations were analyzed. Results: 492 potential driver mutations were identified in 74 out of the 84 genes. Targeted sequencing data for the 75 AITL patients showed that the genes with mutation frequencies of ≥10% were TET2 (89.3%), RHOA (57.3%), IDH2 (37.3%), DNMT3A (36.0%), KMT2C (21.3%), PLCG1 (12.0%), and KDM6B (10.7%). There were significant co-occurrence relationships between TET2 and RHOA, TET2 and IDH2, and RHOA and IDH2 gene mutations (P<0.05), respectively, while TET2 and KDM6B gene mutations were mutually exclusive (P<0.05). Conclusions: The study reveals the mutational characteristics of AITL patients using NGS technology, which would provide insights for molecular diagnosis and targeted therapy of AITL.

Angioimmunoblastic T-cell lymphoma with fever, arthritis and skin pigmentation: A case report / 北京大学学报(医学版)

Angioimmunoblastic T-cell lymphoma is a rare T-cell lymphoma. The clinical manifestations are not specific. In addition to the common clinical manifestations of lymphomas such as fever, weight loss, night sweats and lymphadenopathy, it may also have skin rashes, arthritis, multiple serous effusions, eosinophilia and other systemic inflammatory or immune symptoms. The lymphoma cells of angioimmunoblastic T-cell lymphoma originates from follicular helper T cells, and the follicular structure of lymph nodes disappears. In the tumor microenvironment, in addition to tumor cells, there are a large number of over-activated immune cells, such as abnormally activated B cells, which produce a series of systemic inflammation or immune-related symptoms. This disease is rare and difficult to diagnose. This article reports a 36-year-old female. She got fever, joint swelling and pain, skin pigmentation, accompanied by hepatomegaly, splenomegaly, lymphadenopathy, anemia and other multiple-systems manifestations. The clinical manifestations of this patient were similar to autoimmune diseases such as adult onset Still's disease, rheumatoid arthritis, and systemic sclerosis, which made the diagnosis difficult. At the beginning of the disease course, the patient got arthritis and fever. And her white blood cells were significantly increased. Adult onset Still's disease should be considered, but her multiple-systems manifestations could not be explained by adult onset Still's disease. And her arthritis of hands should be distinguished with rheumatoid arthritis. However, the patient's joint swelling could get better within 3-7 days, and there was no synovitis and bone erosion on joint imaging examination. The rheumatoid factor and anti-CCP antibody were negative. The diagnostic evidence for rheumatoid arthritis was insufficient. The patient's skin pigmentation and punctate depigmentation were similar to those of systemic sclerosis. But the patient had no Raynaud's phenomenon, and her sclerosis-related antibody was negative. The diagnostic evidence for systemic sclerosis was also insufficient. After 3 years, she was finally diagnosed with angioimmunoblastic T-cell lymphoma by lymph node biopsy aspiration. This case suggests that the clinical manifestations of angioimmunoblastic T-cell lymphoma are diverse, and some symptoms similar to immune diseases may appear. When the patient's clinical symptoms are atypical and immune diseases cannot explain the patient's condition, and further evidence should be sought to confirm the diagnosis.

Lymph node pathology in patients with a clinical diagnosis of angioimmunoblastic lymphadenopathy with dysproteinemia (AILD): an analysis of 37 cases.

Lymph node pathology was analyzed in 37 patients clinically diagnosed as having angioimmunoblastic lymphadenopathy with dysproteinemia (AILD). Results confirmed AILD in 11 cases and were compatible with AILD in 2 cases. Reactive lymphoid hyperplasia was found in 15 cases, 2 cases had angiofollicular lymphoid hyperplasia or Castleman's disease, atypical lymphoid hyperplasia suggestive of malignant lymphoma was observed in 3 cases, and malignant lymphoma was diagnosed in the remaining 4 cases. The histopathologic features of AILD which differed from reactive lymphoid hyperplasia were effacement of lymph node architecture, vascular arborization, high endothelial venules, and capsular infiltration (p-value < 0.05). Lymphodepletion and PAS-positive interstitial material were occasionally found in both groups (p-value > 0.05). Among the 15 cases with pathology of reactive lymphoid hyperplasia, we identified 8 cases with hyperplastic lymphoid follicles, interfollicular plasmacytosis and hypervascularity which we designated as a hyperimmune reaction. This study emphasizes the necessity of lymph node examination in all patients with a clinical suspicion of AILD.

Paracoccidioidomicose na infância: diagnóstico por imagens; relato de um caso / Paracoccidioidomycosis in childhood

Os autores relatam o caso de uma criança do sexo feminino, de oito anos de idade, portadora de paracoccidioidomicose profunda, com febre intermitente, hepatomegalia, linfadenopatia abdominal, comprometimento do esqueleto com lesöes ósseas do tipo osteolítico, acompanhado de aumento das partes moles e cardiomegalia com derrame pericárdio, sem acometimento pulmonar

Linfoadenopatía angioinmunoblástica y linfoma de colon / Angioimmunoblastic lymphadenopathy and colonic lymphoma

La linfoadenopatía angioinmunoblástica (LAAI), descripta por primera vez en la década el 70, es una enfermedad infrecuente y generalmente fatal en corto tiempo. Se caracteriza por prersentar linfoadenopatías, hepatoesplenomegalia, fiebre y rash. Los hallazgos més frecuentes en el laboratorio son anemia con test de Coombs positivo, leucocitosis con linfopenia e hipergammaglobulinemia policlonal. A pesar de estar considerada como una enfermedad no neoplásica, produce importantes trastornos inmunes que predisponen al paciente a infecciones graves frecuentemente fatales. Con el transcurso del tiempo estos enfermos tienen una elevada posibilidad de desarrolar linfomas malignos u otros tumores. En el presente trabajo se comunica el caso de una paciente que presentó proliferación ganglionar y síntomas generales, diagnosticándose por biopsia ganglionar LAAI. Se trató con corticosteroides lográndose remisión completa luego de 8 meses de tratamiento; 3 meses después, reingresó por enterorragia y franco deterioro del estado general. Se demostró la presencia de un tumor en el colon y la ausencia de adenomegalias en las zonas afectadas anteriormente por la LAAI. Se extirpó el colon derecho y el examen anatomopatológico confirmó la presencia de un linfoma inmunoblástico que comprometí en forma parcial los ganglios regionales. Los linfomas son infrecuentes en el colon, sólo del 1 al 4%. Se los relaciona con enteropatías crónicas como enfermedad de Crohn, colitis ulcerosa, síndoromes ...

Alteraçöes oculares na síndrome da imunodeficiência adquirida (AIDS) / Ocular manifestations in acquired imunne dificiency syndrome

Examinamos 60 pacientes com Síndrome de Imunodeficiência Adquirida (Aids), 54 do sexo masculino e 4 feminino. O grupo de risco mais frequente era o de homossexuais ou bissexuais masculinos (70%) e mais de 50% apresentavam queixas quanto à visäo, como embaçamento visual, escotomas e diminuiçäo da acuidade. As manifestaçöes oculares foram mais frequentes em indivíduos do Grupo IV (71,6%) da classificaçäo do "Centers for Disease Control". No exame externo, o achado mais frequente foi o engurgitamento dos vasos conjuntivais, presente em 21 pacientes (35%), sendo que 13 desses indivíduos pertenciam ao Grupo IV. Nosso achado mais frequente foi o engurgitamento venoso retínico, presente em 65% dos olhos examinados. Tal alteraçäo parece nos merecer ser incluída como mais um elemento de suspeiçäo no diagnóstico da Aids

Prevalencia de anticuerpos contra el virus asociado a linfodenopatía virus linfotrópico, humano tipo-III de células T (LAV/HTLY-III) en una población de homosexuales en México / Prevalence of HTLV-III/LAV infection in a homosexual population in Mexico

Con objeto de conocer la frecuencia de infección por el virus asociado a la linfadenopatía/virus linfotrópico humano tipo-III de células (LAV/HTLV-III), en individuos de alto riesgo en México, se llevó a cabo la determinación de anticuerpos específicos en suero, por el método de ensayo inmunoenzimático (ELISA), en un grupo de homosexuales aparentemente sanos, y se comparó con las determinaciones de los pacientes con síndrome de inmunodeficiencia adquirida (SIDA) y el complejo relacionado sintomático (CRESI) que se han atendido en el Instituto Nacional de la Nutrición "Salvador Zubirán" (INNSZ), hasta agosto de 1985. Se encontraron anticuerpos contra LAV/HTLV-III en 22.4% de 98 homosexuales asintomáticos; en 87.5% de 8 pacientes con CRESI y en 100% de 12 enfermos con SIDA. En los grupos control, 50/50 donadores de sangre no profesionales y en 13/14 pacientes con enfermedades autoinmunes y linfo-mieloproliferativas fueron negativos. Una enferma con lupus eritematoso sistémico activo tuvo anticuerpos contra LAV/HTLV-III. Se encontró asociación significativa con serología positiva, en los individuos altamente promiscuos, sólo en el grupo de homosexuales asintomáticos haciendo un ajuste para tiempo de vida sexual, así como en los que habían tenido relaciones sexuales con extranjeros, considerando la totalidad del grupo. Los resultados demuestran que la infección por el virus LAV/HTLV-III es frecuente en la población de homosexuales en México, e indica la necesidad de ampliar estos estudios y de establecer medidas de control

Linfadenopatía angioinmunoblástica: estudio de las subpoblaciones Linfocitarias y proliferación interleukina-2 / Angioimmunoblastic lymphadenopathy study of the lymphocytic population and interleukin-2 proliperation

Dos pacientes del sexo femenino con linfadenopatía angioinmunoblástica (LA) se estudiaron con: anticuerpos monoclonales (OKT3, Leu 1, OKT8, HLA-DR, SmIg, OKT10, Leu 7, Anti-Tac), fitohemaglutinina (PHA), e interleukina-2 (IL-2). Los resultados mostraron un aumento de células que expresaron el OKT10 e el Leu 7, así como una proliferación con PHA baja corregida con IL-2 exógena. Se concluye que existen células T activadas y aumento de células "asesinos naturales", así como un déficit en la produción de IL-2 en estos pacientes con LA