Journal of Hematopathology最新文献

A 20-year-old man with a history of Wiskott-Aldrich syndrome (WAS) underwent excisional biopsy of a femoral lymph node for evaluation of lymphadenopathy. Histologic examination showed paracortical expansion by a lymphohistiocytic infiltrate, and reactive follicles with regressive changes. The interfollicular histiocytes had clumped nuclei and showed occasional emperipolesis. Special stains were negative for infectious organisms. The microscopic findings in this lymph node are related to the underlying WAS. Emperipolesis has previously been reported in lymph nodes of patients with WAS. Recognition of reactive microscopic features in lymph nodes of these patients is important, as they are at increased risk for lymphoproliferative disorders.

Bone marrow cytology plays a key role for the diagnosis and classification of hematological disease and is often the first step in the acute setting of unclear cytopenia. AI applications represent a powerful tool in digital image analysis and can improve the diagnostic workflow and accuracy. The aim of this study was to develop an algorithm for the automated detection and classification of hematopoietic cells in digitized bone marrow aspirate smears for potential implementation in the clinical laboratory. The AIFORIA create platform (Aiforia Technologies, Plc, Helsinki, Finland) was used to develop a convolutional neural network algorithm based on nine cell classes. Digitized bone marrow aspirate smears from normal hospital controls were used for AI training. External validation was performed on separate data sets. Automated cell classification was assessed in whole-slide images (WSI) and regions of interest (ROI). A total of 1950 single-cell annotations were applied for AI training with a final total class error of 0.15% with 99.9% precision and sensitivity (FI-score 99.2%). External validation showed an overall precision and sensitivity of 96% and 97% and a F1-score of 96%. Automated cell classification correlated highly across ROI with variable correlation to WSI. The average execution time for classifying 500 hematopoietic cells was < 1 s and ≤ 260 s for WSI. A cloud-based, deep-learning algorithm for automated detection and classification of hematopoietic cells in bone marrow aspirate smears is a very useful, reliable, and rapid screening tool in combination with cytomorphology.

Multiple myeloma is a clonal plasma cell malignancy often characterized by complex cytogenetic abnormalities that influence prognosis and treatment strategies. This report describes a 63-year-old male with kappa light chain multiple myeloma and a rare finding of double translocation involving t(11;14) and t(14;16), detected by FISH analysis. This case emphasizes the clinical implications of such genetic abnormalities and their impact on disease progression and therapeutic decisions.

We present a case of diffuse large B-cell lymphoma characterized by areas exhibiting unexpectedly low Ki67 staining in a 47-year-old man. No histologic or cytologic differences are observed between the areas with low and high proliferation index. With an alternative Ki67 clone, the proliferation index was significantly higher, revealing an additional Ki67 weakly positive population. Our findings suggest a potential partial false-negative staining of tumor cells for Ki67. The phenomenon of false-negative immunohistochemical staining has been described in the literature, especially for MYC protein and Bcl2. In the studies, the phenomenon of false negativity was explained by MYC gene polymorphism leading to disruption of the commercial antibodies-binding epitope. To our knowledge, false-negative Ki67 staining has not been described in the medical literature. While Ki67 is regarded as a reliable proliferation marker, it is important to be aware of this rare potential pitfall to avoid a diagnostic misinterpretation of such tumors as indolent B-cell lymphomas, especially in small limited biopsies.

Double expressor lymphoma (DEL) refers to diffuse large B-cell lymphoma (DLBCL) cases characterized by the overexpression of both MYC and BCL2 proteins, as determined by immunohistochemistry (IHC), without requiring underlying genetic rearrangements. DEL is associated with more aggressive disease behavior and poorer prognosis. This study aimed to assess the impact of DEL on progression-free survival (PFS) and overall survival (OS) compared to non-DEL patients. We conducted a retrospective study at the Hospital, analyzing 177 patients diagnosed with DLBCL between March 2014 and March 2021. Patients were classified as DEL or non-DEL based on immunohistochemical analysis. Survival rates, clinical characteristics, and treatment responses were compared using Kaplan-Meier survival analysis, and multivariable Cox regression was performed to identify independent prognostic factors. Among 177 patients, 113 (63.8%) were DEL and 64 (36.2%) non-DEL. DEL patients had significantly worse outcomes, with a median follow-up of 39.4 months. The 3-year PFS (44.2% vs. 68.8%) and OS (54.9% vs. 81.3%) were significantly lower in DEL (PFS: p < 0.001; OS: p = 0.001). Median PFS in DEL was 19 months. Multivariable analysis confirmed DEL as an independent predictor of worse PFS (HR: 1.488, 95% CI: 1.091-2.03, p = 0.012) and OS (HR: 1.376, 95% CI: 1.011-1.873, p = 0.043). DEL status is strongly linked to poor survival in DLBCL, highlighting the need for targeted therapies beyond R-CHOP. Future research should explore personalized treatment strategies to improve outcomes in this high-risk group.

Monomorphic epitheliotropic intestinal T cell lymphoma (MEITL) is a rare subtype of primary T cell lymphoma of the digestive tract, characterized by a highly aggressive clinical course. Surgery, radiotherapy, and chemotherapy (CT) following autologous hematopoietic stem cell transplantation are among the treatments selected for this disease. Nevertheless, there is currently no curative therapy. We present a case of a 60-year-old male patient without history of celiac disease who presented a jejunum perforation. In the specimen, a diffuse infiltration of small to medium-sized T cells with CD3, CD8, and CD56 expression and cytotoxic markers was observed, affecting all the layers of intestinal wall. The diagnosis of MEITL was established, and the patient received six cycles of CT. Disease progression with another intestinal perforation and central nervous system involvement was presented. The patient died 9 months after the diagnosis. Sixteen similar cases were found through PubMed search, and we describe their clinicopathological characteristics.

Lymphocytic variant of hypereosinophilic syndrome (LV-HES) is a rare T-cell lymphoproliferative disorder characterized by an immunophenotypically abnormal Th2 T-cell clone which produces eosinophilopoietic cytokines, resulting in eosinophilia and end-organ damage. A 38-year-old woman presented to an outside institution with a 10-year history of a pruritic, recurrent, steroid-responsive skin eruption and a 3-year history of mild lymphadenopathy. Excisional lymph node biopsy demonstrated a clonal, surface CD3-CD4+ T-cell infiltrate, prompting a diagnosis of peripheral T-cell lymphoma, not otherwise specified. Further workup revealed bone marrow and peripheral blood involvement. She received multiagent chemotherapy with temporary resolution of her skin eruption and lymphadenopathy, but persistent bone marrow disease. Presenting to our institution 3 years later, she exhibited numerous flesh-colored papules involving the extremities, without patches or plaques of mycosis fungoides. Skin biopsies demonstrated a dermal perivascular and interstitial proliferation of monotonous small T-cells without significant epidermotropism. T-cell receptor gene rearrangement studies of skin and peripheral blood specimens revealed identical clonal peaks, and peripheral blood flow cytometry showed persistence of the previously identified T-cell clone. Laboratory workup demonstrated a markedly elevated IgE level (66,580 kU/L) with a normal eosinophil count and IL-5 level. Next-generation sequencing of a peripheral blood sample revealed a pathogenic STAT3 S614R variant, previously documented in LV-HES. Although lacking eosinophilia, the patient's indolent course, characteristic skin lesions, steroid responsiveness, and pathologic features are typical of LV-HES, and the elevated IgE and STAT3 activation underscore a similar biology. We thus propose that this case expands the spectrum of indolent Th2-T cell lymphoproliferative disorders that need to be distinguished from peripheral T-cell lymphoma clinically.

A 56-year-old male presented to the clinic with complaints of multiple skin lesions. A complete blood count (CBC) was not available. No constitutional symptoms were present, and physical examination revealed tender skin lesions of the back, arms, legs, and scalp. A skin punch biopsy showed fragments of skin with extensive lymphoid infiltrates. The initial lymphoma workup by immunohistochemistry demonstrated negative staining for CD45, CD3, and CD20. Additional stains were performed which revealed the atypical lymphoid infiltrate to be positive for PAX5, TdT, CD10, CD34, CD79a, and CD99 and negative for CD4, CD8, Keratin, S100, CD56, CD138, and EMA. These histologic and immunophenotypic findings supported the diagnosis of skin involvement by B-lymphoblastic leukemia/lymphoma (B-ALL/LBL). Consequent peripheral blood and bone marrow biopsy evaluations supported this diagnosis. To avoid misdiagnosis, it is important to remember that B-ALL/LBL can rarely present as a skin lesion and can be negative for the most commonly used lymphoma immunohistochemical markers: CD45, CD3, and CD20. Additionally, skin involvement by B-ALL/LBL, although very uncommon, is most often reported in children or young adults, unlike this unique case occurring in an adult.