Journal of Hematopathology最新文献

"Dry tap" refers to the failed aspiration of bone marrow hematopoietic elements. Faulty technique is frequently blamed for a dry tap. But, often, the dry tap is associated with an underlying bone marrow pathology. This study aimed to evaluate the causes of dry tap and assess its clinical relevance. This retrospective observational study was conducted in the Department of Pathology over a period of 1 year, from 1 November 2023 to 31 October 2024. A total of 1327 bone marrow aspirates were reviewed. The definitive diagnosis was established by examining the trephine biopsy. A total of 267 aspirates, for which biopsy was not performed or which had suboptimal biopsies, were excluded from the study. A total of 1060 cases were taken for the final study. We attributed 125 (11.8%) cases that were aparticulate and grossly hemodiluted to a "dry tap." Of these, only 20 (16%) of the dry tap could be attributed to improper or faulty technique because their trephine biopsy was adequate and satisfactory for evaluation. An underlying bone marrow pathology, which could plausibly be the reason for dry tap, was identified in 105 (84%) patients. The most common cause was found to be acute leukemia, accounting for 32.8% of the cases. The laboratories should periodically review the cases yielding a dry tap, and if the corresponding biopsies are adequate, then one must focus on improving the technique of bone marrow aspiration. Moreover, a dry tap should serve as a diagnostic alert rather than a basis for disregard of the operator's technique.

Various types of lymphoma/leukemia can present with leukemic involvement by neoplastic cells with prominent nucleoli. Patients with chronic lymphocytic leukemia (CLL) most commonly can present in this fashion but other, less common types include mantle cell lymphoma, splenic marginal zone lymphoma, splenic diffuse red pulp small B-cell lymphoma, and splenic B-cell lymphoma/leukemia with prominent nucleoli (SBLPN). The latter is a newly proposed category in the fifth edition of the World Health Organization classification of hematolymphoid neoplasms. This category includes most cases that were previously designated hairy cell leukemia-variant and rare cases of CD5-negative B-prolymphocytic leukemia. A case of extranodal marginal zone lymphoma (EMZL) is reported to highlight the presence of nucleolated lymphocytes in the peripheral blood and bone marrow and their impact on the differential diagnosis, particularly with SBLPN. An 80-year-old woman with a reported history of "CLL", diagnosed and treated with clinical remission, developed gastric EMZL which relapsed twice after chemotherapy. At time of last relapse, a peripheral blood smear and bone marrow aspiration and biopsy specimens were evaluated to assess the presence and extent of blood and bone marrow involvement. The pathologic findings and differential diagnosis are discussed. A complete blood count showed a leukocyte count of 7.9 × 10⁹/L and review of the peripheral blood smear showed 32% nucleolated lymphocytes (absolute lymphocyte count, 2.5 × 10⁹/L). Bone marrow aspiration and biopsy showed a nodular, interstitial, and focal sinusoidal lymphoid infiltrate with a subset of lymphocytes displaying nucleoli. Flow cytometry immunophenotypic analysis of the bone marrow showed a CD5-negative, monotypic small B-cell population consistent with extranodal MZL. This case illustrates that nucleolated lymphocytes can be observed in the peripheral blood smear of patients with EMZL. These findings expand the differential diagnosis of circulating nucleolated lymphocytes in the blood.

We report the case of a 42-year-old female presented with cytopenia and abnormal promyelocytes on blood film. The promyelocytes were HLA-DR positive by flow cytometry. The rapid FISH for PML::RARA was negative. Myeloid NGS identified PML::RARA fusion, which was confirmed by molecular karyotyping and PCR. She was treated with ATRA and ATO to complete molecular remission. This case highlighted the importance of using rapid RNA sequencing to identify cryptic fusion and rare fusions and combining morphologic, immunophenotypic, cytogenetic and molecular analyses to ensure correct diagnosis and optimal management.

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.