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B-cell lymphoblastic lymphoma (B-LBL) is an abnormal proliferation of lymphocyte precursor cells located primarily outside of the bone marrow and peripheral blood, typically in the mediastinum or other lymph nodes. It is often a disease of childhood that presents with lymphadenopathy, fatigue, pallor, bone pain, and weight loss with laboratory findings of anemia and thrombocytopenia. Initial presentations prompted by head and neck manifestations are exceedingly rare. A five-year-old girl with no significant past medical history presented with right facial swelling and mild proptosis on ophthalmologic evaluation. She was referred to a tertiary care facility by her local otolaryngologist for further management after computed tomographic imaging revealed right maxillary sinus opacification and erosion of the anterior maxillary bone. Her symptoms were initially responsive to prednisone and amoxicillin-clavulanate, and only right unilateral nasal discharge persisted with a near-complete resolution of other sinonasal symptoms. Notably, laboratory values, including complete blood count, were within normal limits. Given concern for the etiology of the bony erosion, the patient presented for a second opinion, where imaging and biopsy resulted in flow cytometry findings consistent with B-ALL/LBL. After a bone marrow biopsy, the ultimate diagnosis was Murphy's stage III B-cell lymphoblastic lymphoma. Malignant neoplasms of the sinonasal region are rare in children, where primary sinonasal B-LBL is a unique occurrence. Clinical features of sinonasal B-LBL in the paranasal sinuses may masquerade as pathologies such as acute sinusitis, orbital cellulitis, and benign tumors or polyps that can lead to a confounding diagnosis. In this case presentation, an initial response to steroids and antibiotics should not provide false reassurance when other features and signs, such as maxillary bone erosion, may suggest the presence of malignancy.

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Introduction: Leukemia is the most frequently occurring cancer in children, and lymphoblastic lymphoma (LBL) is a rare subtype. LBL are lymphoid neoplasms of B or T cell origin and are primarily treated with chemotherapy. Although cure rates among children are excellent, these patients must be monitored for relapse. Cutaneous lesions involving B-cell LBL (B-LBL) are extremely rare and here we present a patient with a worsening B-LBL scalp mass who required radical surgical excision. Case report: A 6-year-old female patient with a history of a nontender scalp mass discovered at approximately 2-3 years of age was evaluated for resection of the nodule due to its size and treatment history. The patient was originally diagnosed with follicular lymphoma by punch biopsy; excision was successfully performed on this 4 cm lesion and upon examination of the skin biopsy did we get a diagnosis of B-LBL. Reconstruction of the scalp was done through the rotation flap method. The patient's scalp healed well, and adjuvant chemotherapy was continued. There has been no reoccurrence. Discussion: Here we report the rarity of B-LBL cases involving extranodal involvement in the scalp. The most common reconstruction of scalp lesions has been using free flap from the anterolateral thigh (ALT) and latissimus dorsi (LD). Our case used the rotation flap, which has its functional and cosmetic benefits. The importance of monitoring this patient is emphasized due to the dangerous consequences of B-LBL relapse. Ultimately, our successful treatment and care of this rare case can be used as guidance for similar patients in the future.

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A woman in her forties with relapsed B-cell lymphoblastic lymphoma was treated with blinatumomab, but the drug proved ineffective. Salvage therapy with clofarabine induced a complete remission, and she received an allogeneic stem-cell transplantation (allo-SCT) from an HLA-matched sibling donor. However, her disease relapsed only 4 months after the allo-SCT. Three courses of combination therapy with donor lymphocyte infusion (DLI) and blinatumomab were administered, and the tumor progression was well controlled for 6 months, leading to a second allo-SCT from an HLA-haploidentical donor. The remission was persistent for approximately 1 year, but the disease relapsed in her central nervous system, and she eventually died. Our case demonstrated the efficacy and safety of concomitant use of DLI and blinatumomab. This combination presumably enhanced a graft-versus-lymphoma effect of allogeneic T-cells without provoking graft-versus-host disease.

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This case report highlights the occurrence of B- cell lymphoblastic lymphoma (B-LBL) as a solitary cutaneous lesion without an existing systemic involvement and should be kept in the differentials while dealing with cases presenting with a similar clinical picture. We report the case of a 13-year-old girl who presented with a painful, progressively enlarging swelling in right zygomatico-temporal region, clinically simulated a deep fungal infection/granulomatous lesion and turned out to be a case of B-LBL without any systemic involvement on further work up. This case is being reported to emphasize that B-LBL should be considered as a differential for an otherwise benign appearing persistent lesion in the head and neck region.

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Background B-cell non-Hodgkin lymphoma (NHL) is a common malignancy worldwide and in the Pakistani population. In our population, there was limited information regarding the clinicopathological characteristics of B-cell NHL. This study assessed the disease spectrum and most prevalent subtypes of B-cell NHL. Methodology An analysis of 548 cases was conducted in this cross-sectional study between January 2021 and September 2022, using a non-probability consecutive sampling approach. Patient age, gender, site of involvement, and diagnosis were documented according to the 5th edition of the World Health Organization (WHO) Classification of Tumors of Hematopoietic and Lymphoid Tissue, published in 2018. Data were entered and analyzed using Statistical Product and Service Solutions (SPSS) (IBM SPSS Statistics for Windows, Version 26.0, Armonk, NY). Results The mean age of the patients was 47.73±20.44 years. There were 369 males (67.34%) and 179 females (32.66%). The most prevalent type of B-cell NHL was diffuse large B-cell lymphoma (DLBCL) (58.94%), followed by chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) (13.14%), Burkitt lymphoma (9.85%), and precursor B-cell lymphoblastic lymphoma (5.11%). In contrast to low-grade B-cell NHL (22.99%), high-grade B-cell NHL was more common (77.01%). Nodal involvement was observed in 62.04% of cases. The cervical region was the most common nodal site of involvement (62.04%), and the gastrointestinal tract (GIT) was the most common extranodal site (48.29%). Conclusion The incidence of B-cell NHL is higher in older age groups. The most common nodal site was the cervical region, whereas the extranodal site was the GIT. The most reported subtype was DLBCL, followed by CLL/SLL, and Burkitt lymphoma. The prevalence of high-grade B-cell NHL is higher than that of low-grade B-cell NHL.

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Lymphoblastic lymphoma (LBL) is a highly malignant form of lymphoma with rapid progression and high mortality. According to the World Health Organization immunophenotype, it is classified into T-lymphoblastic lymphoma (T-LBL) and B-lymphoblastic lymphoma (B-LBL). B-LBL often involves lymph nodes and extranodal locations, such as the skin, bones, and soft tissues. However, renal damage as an initial symptom is very rare in B-LBL. The present study presented a rare case of renal involvement in a 30-year-old male patient with B-LBL presenting with acute renal failure with bilateral renal enlargement. Renal involvement is rare in B-LBL, and nephrologists should improve the understanding of this disease.

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B-cell lymphoblastic lymphoma (BCP-LBL) and B-cell acute lymphoblastic leukemia (BCP-ALL) are the malignant counterparts of immature B-cells. BCP-ALL is the most common hematological malignancy in childhood, while BCP-LBL accounts for only 1% of all hematological malignancies in children. Therefore, BCP-ALL has been well studied and treatment protocols have changed over the last decades, whereas treatment for BCP-LBL has stayed roughly the same. Clinical characteristics of 364 pediatric patients with precursor B-cell malignancies were studied, consisting of BCP-LBL (n = 210) and BCP-ALL (n = 154) patients. Our results indicate that based on the clinical presentation of disease, B-cell malignancies probably represent a spectrum ranging from complete isolated medullary disease to apparent complete extramedullary disease. Hepatosplenomegaly and peripheral blood involvement are the most important discriminators, as both seen in 80% and 95% of the BCP-ALL patients and in 2% of the BCP-LBL patients, respectively. In addition, we show that the overall survival rates in this cohort differ significantly between BCP-LBL and BCP-ALL patients aged 1−18 years (p = 0.0080), and that the outcome for infants (0−1 years) with BCP-LBL is significantly decreased compared to BCP-LBL patients of all other pediatric ages (p < 0.0001).

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Philadelphia chromosome positive B cell lymphoblastic lymphoma (Ph+ B-LBL) is an extremely rare disease. We report a 27-year-old patient diagnosed with primary testicular and cutaneous Ph+ B-LBL without bone marrow involvement. The CCCG-LBL-2016 regimen (https://clinicaltrials.gov/ct2/show/NCT02845882) was initially administered due to the fast pathological diagnosis as B-LBL that was first obtained. To identify potential therapeutic targets, RNA sequencing (RNAseq) was also performed on lymph node specimens as a part of the routine diagnostic workup in our center. Unexpectedly, IKZF1 deletions and BCR-ABL1 fusion transcripts were detected. Based on these results, we retrospectively performed fluorescence in situ hybridization (FISH) for BCR/ABL1 rearrangements in the same lymph node specimen, and a 70% positive signal was detected. The patient subsequently received the CCCG-LBL-2016 protocol combined with the BCR-ABL tyrosine kinase inhibitor (TKI) dasatinib, along with prophylactic intrathecal infusion. Then, the patient underwent TBI-based haploidentical (haplo) allogeneic hematopoietic stem cell transplantation (haplo-allo-HSCT) as consolidation following the achievement of remission and continued taking dasatinib as maintenance therapy. The patient was still in complete remission 1 year after diagnosis. This case indicates that the detection of potential molecular targets, especially those targets that can be pharmacologically treated, such as BCR/ABL1 fusion transcripts, is of important value to both LBL diagnosis and therapeutic strategy choices. FISH, reverse transcriptase polymerase chain reaction (RT-PCR) and/or RNAseq should be routinely carried out in lymphoma specimens to depict its genetic landscape for the further execution of a precise therapy strategy.

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BACKGROUND: Lymphoblastic lymphoma (LBL) and acute lymphoblastic leukemia (ALL) are categorized as the same entity under precursor lymphoid neoplasms in the World Health Organization classification. However, compared to B-cell ALL, the molecular genetic makeup of B-cell LBL remains to be understood, mainly due to its rarity. We performed whole exome sequencing (WES) on seven patients with TCF3-PBX1-positive B-cell LBL. METHODS: WES was performed using DNA extracted from tumor specimens and paired blood samples at remission for six patients, and tumor-only analysis was performed for one patient whose remission sample was not available. For one patient, a relapsed sample was also analyzed. RESULTS: KMT2D variants and 6q LOH were found as recurrent alterations. Somatic variants of KMT2D were identified in three of the seven patients. Of note, the two patients with heterozygous nonsense variant of KMT2D were at stage III, without bone marrow infiltration. 6q LOH was also identified in two others, out of the seven patients. The common 6q deleted region of the two patients ranged from 6q12 to 6q16.3. Both patients had bone marrow infiltration. Analysis of recurrent case also revealed that the relapsed clone might be derived from a minor clone of the bone marrow at diagnosis. CONCLUSION: In this study, through WES for seven patients with TCF3-PBX1-positive B-LBL, we identified KMT2D mutations and 6q LOH as recurrent alterations. In order to elucidate the relationship between these recurrent alterations and disease specificity or outcomes, further studies comparing with TCF3-PBX1-positive B-ALL are required.

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Cardiac involvement in hematological malignancies is uncommon, with only a few cases reported to date, and it often leads to a poor prognosis. Here, we report a case of a 42-year-old woman with a history of allogeneic hematopoietic stem cell transplantation (allo-HSCT) and anti-CD19 chimeric antigen receptor (CAR) T-cell therapy for B-cell lymphoblastic lymphoma/acute lymphoblastic leukemia in whom cardiac mass and myocardial infiltration were detected. Prior to this presentation, massive pericardial effusion had occurred 6 months after CAR T-cell therapy, which was improved via ultrasound-guided pericardiocentesis. We observed elevated cytokine levels and increased copy number of CAR DNA in both pericardial effusion and serum. Upon detecting cardiac mass and myocardial infiltration, the patient was administered tocilizumab (a humanized monoclonal antibody against IL-6 receptor), which controlled the serum cytokine levels, and reduced intensity chemotherapy, including vindesine, cyclophosphamide, and prednisolone. However, the patient finally died of multiple organ failure. To the best of our knowledge, this is the first report on the development of a cardiac mass and occurrence of myocardial infiltration after allo-HSCT and CAR T-cell therapy. This report may provide supporting data for the early diagnosis and immediate treatment of patients with cardiac involvement.

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Acute lymphoblastic leukemia (ALL) is considered as the most common malignant neoplasm of childhood and the frequent cause of death from cancer before 20-years of age. The facial swelling mimicking a maxillofacial tumor is rarely associated with ALL. Clinicians should be aware of such rare manifestation of ALL. We present a case with an atypical mass in the facial region secondary to ALL, which resulted in diagnostic dilemma. Reports of such atypical swelling in patients with ALL are occasional. The swelling was aggressive and the disease had a fulminant course.

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According to the latest WHO classification of hematopoietic malignancies, myeloid and lymphoid neoplasms with eosinophilia and gene rearrangements include three specific rare diseases and one provisional entity. Myeloid/lymphoid neoplasms with platelet-derived growth factor receptor alpha (PDGFRA) rearrangements are the most frequent of these disorders and are usually present in adult males with a median age of the late 40s. Patients usually have chronic eosinophilic leukemia but can occasionally manifest as acute myeloid leukemia or extramedullary T- or B-lineage lymphoblastic lymphoma. We report a case of a previously healthy 2-year-old girl who presented with a right supraorbital swelling with no associated lymphadenopathy. Peripheral blood smear evaluation at initial presentation revealed microcytic hypochromic red blood cells and leukocytosis with marked eosinophilia, occasional myelocytes, and occasional blasts. Whole-body CT scans and PET scans revealed hypermetabolic potentially lymphomatous mass in the superior medial aspect of the right orbit in addition to splenomegaly but no evidence of hypermetabolic mediastinal, hilar, abdominal, or pelvic lymph nodes. Bone marrow aspirate and biopsy revealed hypercellular bone marrow with quantitatively decreased erythroid precursors and increased granulocytic precursors with 60% of the cells being eosinophilic cells in different stages of maturation. The diagnosis of myeloid neoplasm with eosinophilia and rearrangement of PDGFRA was made following confirmation by fluorescence in situ hybridization (FISH) test for FIP1L1-PDGFRA gene fusion. An incisional biopsy of the supraorbital mass revealed B-cell lymphoblastic lymphoma (B-LBL). FISH test for FIP1L1-PDGFRA gene fusion was positive in 70% of the cells studied. Thus, the final diagnosis was B-cell lymphoblastic lymphoma arising in the setting of myeloid/lymphoid neoplasm with eosinophilia and PDGFRA rearrangement. The patient was started on imatinib with concomitant therapy for B-LBL per the Children Oncology Group (COG) standard therapy for localized B-LBL and demonstrated a favorable outcome in the 2.5-year follow-up period. To our knowledge, this is the first pediatric case of myeloid/lymphoid neoplasm with PDGFRA rearrangement presenting with synchronous myeloproliferative disease and B-LBL. We present our diagnostic and management approach of this patient and review prior relevant pediatric cases of myeloid/lymphoid neoplasms with PDGFRA rearrangement.

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Peritoneal lymphomatosis (PL) is a rare presentation of extranodal precursor leukemia/lymphoma. The presentation is often non-specific, leading to delayed diagnosis and treatment. In this case, though the preliminary diagnosis was established on ascitic fluid cytology, the disease progressed rapidly, leading to demise before initiating chemotherapy. Immunophenotyping and molecular studies, performed later, established a diagnosis of de novo B-cell precursor leukemia/lymphoma with MYC, BCL2 rearrangements (Double-hit lymphoma). MYC, BCL2 rearrangements are rarely reported in precursor B-lymphoma/leukemia which carry dismal prognosis. In this report, we illustrate autopsy findings of PL in an elderly gentleman who presented with ascites for evaluation.

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Here, we report a rare case of a 12-year-old boy who was initially diagnosed with B cell lymphoblastic lymphoma (BLBL) and developed myeloid sarcoma (MS) eight months after chemotherapy. Next-generation sequencing (NGS) showed mutations of KRAS and NRAS genes in both the bone marrow and lymph node. He presented an abnormal karyotype of 46, XY, -9, der (16) t (9; 16) (q13; q12), +mar. He received chemotherapy according to the South China Children's Leukemia Group 2016 protocol. Complete remission was achieved by the 15th day post-treatment. Eight months later and immediately prior to the start of maintenance therapy, the patient developed fever, skin nodules in both upper arms, and enlargement of bilateral testes. Pathological analysis of skin and testicular biopsies suggested the diagnosis of myeloid sarcoma (MS). Again, NGS examination showed mutations of KRAS and NRAS genes. The patient underwent haploidentical hematopoietic stem cell transplantation but unfortunately did not survive. The interval of eight-month interval between the initial disease onset and MS brings into question whether MS developed as part of the initial onset of disease or as a secondary tumor in association with chemotherapy. Thus, understanding the pathogenesis of MS involving abnormalities of lymphoid progenitors may assist in the prediction of prognosis and development of novel target therapies.

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Primary cutaneous B-cell lymphomas are a heterogeneous group of lymphoid neoplasms primarily occurring in the skin. Although most cases are represented by primary cutaneous follicle center cell lymphoma, primary cutaneous marginal zone lymphoma and leg-type diffuse large B-cell lymphoma, other diffuse large B-cell lymphomas and B-cell lymphoblastic lymphoma may rarely present primarily in the skin. In this setting, the presence of histopathologic and immunohistochemical features of cellular immaturity is exceedingly rare and may represent a diagnostic challenge. We present the first case of a primary cutaneous diffuse large B-cell lymphoma characterized by diminished expression of CD45, expression of TdT and rearrangement of MYC gene. The differential diagnosis mainly included B-cell lymphoblastic lymphoma, and required the genetic analysis of heavy chain (IGH) gene rearrangements.

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Peritoneal lymphomatosis (PL) is a rare presentation of extranodal precursor leukemia/lymphoma. The presentation is often non-specific, leading to delayed diagnosis and treatment. In this case, though the preliminary diagnosis was established on ascitic fluid cytology, the disease progressed rapidly, leading to demise before initiating chemotherapy. Immunophenotyping and molecular studies, performed later, established a diagnosis of de novo B-cell precursor leukemia/lymphoma with MYC, BCL2 rearrangements (Double-hit lymphoma). MYC, BCL2 rearrangements are rarely reported in precursor B-lymphoma/leukemia which carry dismal prognosis. In this report, we illustrate autopsy findings of PL in an elderly gentleman who presented with ascites for evaluation.

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Precursor B-cell lymphoblastic lymphoma (PBLL) is a rare subtype of non-Hodgkin lymphoma originating from B-cell precursors. PBLL, as a solitary mass lesion affecting the central nervous system without leukemic disease at presentation, is quite uncommon. Here we report a rare PBLL case with Philadelphia chromosome positivity. The 44-year-old male presented a solitary bulky mass primarily involving the left frontotemporal lobes and extended into the infratemporal fossa. Pretreatment PET/CT imaging showed avid 18F-fluorodeoxyglucose (18F-FDG) uptake of the lesion. By aggressive chemotherapy and imatinib maintenance treatment, the patient achieved and remained in complete remission on another two consecutive PET/CT imaging follow-ups.

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Leukemia cutis, or infiltration of leukemic cells into the skin, occurs rarely in B-cell acute lymphocytic leukemia (ALL). Herein, we have described a rare, precocious presentation of B-cell ALL presenting as indurated facial plaques in a 69-year-old man. Biopsy of the facial plaques revealed precursor B-cell leukemia/lymphoma in the skin and prompted urgent hematologic-oncologic evaluation. Bone marrow biopsy yielded a final diagnosis of B-cell ALL. The patient underwent induction therapy, and at the last available follow-up, a matched unrelated donor transplant was planned.

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Precursor B-cell lymphoblastic lymphoma, a type of non-Hodgkin lymphoma, is common in children. It is mostly extranodal; skin, bone and soft tissue are more often involved. However, isolated peritoneal presentation is rare. In this article a unique pediatric case of isolated omental precursor B-cell lymphobastic lymphoma is presented.