Pediatric discordant lymphoma with classic Hodgkin lymphoma in cervical lymph nodes and high-grade B-cell non-Hodgkin lymphoma in bone marrow: a case report from Pakistan.

Discordant lymphoma (DL) is an uncommon condition in which two or more histologically different types of lymphomas are present at distinct anatomical sites in the same patient. Here, we report a case of a pediatric patient under 10 years old presenting with symptoms of general sickness with cervical lymphadenopathy, abdominal distension and an abdominal mass. Upon conducting investigations, classic Hodgkin lymphoma (CHL) was detected in the cervical lymph nodes, and high-grade B-cell non-Hodgkin lymphoma was detected in the bone marrow and abdominal mass. The patient was therefore diagnosed with DL. The boy was initially diagnosed with CHL but proceeded to have aggressive disease progression, due to which further workup was done. In the past, literature reports have been published for adult cases of DL, and currently, research is being conducted to formulate treatment protocols for it. However pediatric cases of DL remain widely undiscussed. Since we are dealing with a rare or widely underreported condition, we found it significant to elaborate on its clinical presentation, treatment plan, complications and prognosis.

Cytogenetic Profiling In Paediatric Acute Leukaemia; A Report On 746 Newly Diagnosed Paediatric Cases Analyzing The Spectrum Of Recurring Chromosomal Rearrangements In B Cell Lymphoblastic And Acute Myeloid Leukaemia.

Background: Cytogenetics is evolving and different molecular mechanisms we know now have proved to be of diagnostic and prognostic significance in both acute lymphoid (ALL) and myeloid leukaemia (AML). This study aims to find out and compare the occurrence of different cytogenetics in paediatric acute leukaemia. Methods: This is a cross-sectional study of diagnosed B-ALL and AML patients presenting at The Indus Hospital. We studied FISH and karyotype in BALL and FISH in AML patients. FISH analysis shows a total of 69 (12.8%) of B ALL patients had cytogenetic abnormalities. BCR-ABL1 was positive in 5.1%, ETV6/RUNX1T1 in 8.6% and KMT2A in 2.3% individuals. Karyotype reveals hyper diploidy in 24.3%, Monosomy in 1.94%, and t (1:19) and t (17:19) were observed in 5.8% and 0.24% cases respectively. FISH analysis in AML cases reveal positivity of t (8:21) in 26.4%, INV (16) in 6.1% while PML-RARA t(15:17) was done on morphological suspicion in 17 cases; all of which showed positivity; making 7.9% of the total AMLs. The study demonstrated a wide spectrum of heterogeneity in paediatric acute leukaemia. Conclusion: Hyperdiploidy was the most common cytogenetic abnormality. We report a lower incidence of t (12:21), compared to the world. We showed a higher prevalence of RUNX1/RUNX1T1 in young children. The prevalence of core binding factor AML was 32.5%.

Mixed-phenotype acute leukemia, T/megakaryoblastic: does it really exist?

Mixed-phenotype acute leukemias (MPAL) account for < 4% of all cases of acute leukemias. These are a heterogeneous group of leukemias grouped together by the WHO classification as "rare subtypes." The diagnosis and treatment of MPAL is extremely challenging particularly for low middle income countries. Of these, B/myeloid and T/myeloid combinations are relatively common subtypes. However, megakaryoblastic and erythroid lineages in combination with other lineages are still rare enough to not even be addressed in the WHO classification. To date, there have been only a few reports of mixed B or T cell and megakaryocytic or mixed B or T cell and erythroid leukemias. We report the clinical presentation, diagnostic profile, and disease course of MPAL cases with a biphenotypic pattern consistent with T/megakaryoblastic lineage which is not yet defined in WHO classification. These cases were phenotyped using 8-color flow cytometry (BD FACS CANTO-II) using an extensive panel of markers. Interphase fluorescence in situ hybridization (FISH) was done using dual color dual fusion probes for BCR::ABL1, RUNX1::RUNX1T1, and ETV6::RUNX1, while MLL and CBFB gene rearrangement was tested by break-apart probes. Karyotyping was performed using the conventional GTG-banding technique. Both FISH and karyotyping were analyzed by the automated cell imaging system Leica Biosystems, using Cytovision MB8. The cases presented here satisfy the criteria for both T-lineage assignment (cyCD3 intensity reaches that of normal T-lymphocytes) and acute megakaryoblastic leukemia (≥ 1 megakaryocytic marker in > 50% blasts) and thus represent the first documented examples of this unusual entity from Pakistan. It is crucial to report these cases to gather more data about clinical presentation, diagnostic profile, and disease course. Additionally, the reported cases highlight the limitations of existing classifications which do not address rare subtypes. More importantly, T/megakaryoblastic MPAL needs to be included in the WHO classification as a separate entity.