RESUMEN

OBJECTIVES: Acute myeloid leukemia (AML) with ETV6::CHIC2 and basophilia is rare in hematologic malignancies with poor prognosis. Due to the small number of clinical cases, it is misdiagnosed and missed frequently, and it is necessary to explore laboratory detection for accurate diagnosis. METHODS: We report a case of AML with ETV6::CHIC2 and basophilia by morphological screening, immunotyping with precise gating, interpretation of FISH results, and RNA transcriptome sequencing, thus laying the accurate diagnosis for clinical treatment. RESULTS: We confirmed a rare case of AML with ETV6::CHIC2 rather than FIP1L1::PDGFRA by morphological analysis, correct immunophenotyping via precise gating, rejecting one-sided view of FISH positive result and targeted RNA sequencing. Precise analysis and more advanced means avoid misdiagnosis and missed frequently. After accurate diagnosis, venetoclax and decitabine therapy were given instead of imatinib; eventually, the patient achieved a relatively good effect. DISCUSSION: Immunophenotype analysis is necessary to detect the expression of CD7 when encountering pseudo-lymphocytes with multilineage dysplasia and basophilia. FISH and RT-PCR are still indispensable means of diagnosis of fusion genes in hematologic malignancies but can only detect a limited number of known partner genes and fusion genes with known break points. NGS can achieve sequence analysis indiscriminately and detect all fusion transcripts theoretically, greatly improving the detection range. NGS sequencing is required for t(4;12)(q11;p13) in AML that are not accompanied by eosinophilia.

Asunto(s)

Proteína ETS de Variante de Translocación 6 , Leucemia Mieloide Aguda , Proteínas de Fusión Oncogénica , Proteínas Represoras , Humanos , Leucemia Mieloide Aguda/genética , Leucemia Mieloide Aguda/diagnóstico , Proteínas de Fusión Oncogénica/genética , Proteínas Represoras/genética , Proteínas Proto-Oncogénicas c-ets/genética , Masculino , Inmunofenotipificación

RESUMEN

There is remarkable morphologic and genetic heterogeneity in acute myeloid leukemia (AML). In a small percentage of cases of AML, increased eosinophils and/or basophils are present in the bone marrow and sometimes in the peripheral blood. This is often a puzzling diagnostic situation but also an important finding that requires special investigation. Unique chromosomal rearrangements have been correlated with an increased number of eosinophils and basophils in AML. The identification of the underlying genetic lesion that promotes eosinophilia and basophilia can dramatically change both the prognosis and the treatment of the patient. Thus, clinicians must be vigilant in searching for the cause of eosinophilia and basophilia in patients with AML, since the different causes may lead to different treatments and survival outcomes. In this article, we examine the significance of increased eosinophils and/or basophils in the context of AML, provide guidance that simplifies the differential diagnosis, and give prognostic and therapeutic information about specific subtypes of AML associated with eosinophilia and/or basophilia. Evidence supporting personalized (molecularly targeted) therapy for these patients is also presented.

RESUMEN

Basophilia is a rare hematologic finding in dogs. This research aimed to describe the hematologic and clinical characteristics of dogs with moderate-to-marked basophilia. CBC reports with blood smear examinations from dogs presented to the North Carolina State University Veterinary Teaching Hospital were retrospectively reviewed for basophilia (>193 cells/µL). We classified basophilia as moderate when counts were ≥500 cells/µL and marked when they reached ≥1000 cells/µL. We compared the hematologic and clinical profiles of dogs with moderate-to-marked basophilia (the basophilia group) to those without basophilia, serving as our control group. In addition, we investigated differences between dogs with marked basophilia versus those with moderate basophilia, as well as between dogs in the basophilia group with and without concurrent eosinophilia. Diseases associated with moderate-to-marked basophilia included eosinophilic lung disease (p < 0.0001), leukemia/myeloproliferative neoplasms (p = 0.004), parasitic infection (p = 0.004), mast cell tumor (p = 0.005), and inflammatory bowel disease (p = 0.02). Overall, dogs with marked basophilia had a lower frequency of inflammatory diseases (51% vs. 70%, p = 0.009) and a higher frequency of neoplastic diseases (48% vs. 26%, p = 0.003) compared to those with moderate basophilia. In the basophilia group, concurrent eosinophilia was only seen in 36% of dogs. Dogs with concurrent eosinophilia were more often diagnosed with inflammatory diseases (77% vs. 58%, p = 0.006), with fewer diagnoses of neoplasia (19% vs. 40%, p = 0.001), compared to dogs without concurrent eosinophilia. The findings of this study offer veterinary clinicians valuable guidance in determining diagnostic priorities for dogs with moderate-to-marked basophilia.

RESUMEN

Inflammatory bowel disease is a common condition in cats, characterized by recurring gastrointestinal signs with histologic evidence of intestinal inflammation. A 9-month-old neutered male Sphynx cat was presented with a 5-week history of vomiting and hematochezia. Conservative patient management with a therapeutic gastrointestinal formula, antibiotics, and antiemetics resulted in a positive response to treatment, with relapse of signs when the medications were discontinued. A new finding of marked eosinophilia and basophilia was identified 3 months after the initial presentation. Colonoscopy revealed cecal erosions and a surgical biopsy with histopathology confirmed a diagnosis of lymphocytic-plasmacytic and eosinophilic enterocolitis. For this diagnosis, the patient was treated with prednisolone, tylosin, and metronidazole. Antibiotics were gradually tapered as the cat showed clinical improvement. The patient showed resolution of the gastrointestinal signs, and the numbers of eosinophils and basophils returned within the reference range 8 weeks after the treatment began. Basophilia and eosinophilia has been reported in conjunction with feline T-cell lymphoma. However, marked basophilia accompanying eosinophilia is extremely rare in cats with inflammatory bowel disease. We herein provide clinical details, including ultrasonography, endoscopy, histopathology, and disease course of feline lymphocytic-plasmacytic and eosinophilic enterocolitis with marked basophilia and eosinophilia. This case highlights the importance of considering enteritis as potential diagnoses when eosinophilia and basophilia are concurrently observed in cats.

RESUMEN

BACKGROUND: Now that it is possible to efficiently classify and save tissue images of laboratory animals using whole-slide imaging, many diagnostic models are being developed through transfer learning with Convolutional Neural Network (CNN). In this study, transfer learning was performed to gain toxicopathological knowledge using CNN models such as InceptionV3 and Xception. For the classification of tubular basophilia and mineralization, two representative background lesions that commonly occur in toxicological studies, accuracies of diagnosis were compared using MobileNetV2, Xception and InceptionV3. For the simultaneous detection of the two lesions, the accuracy was analysed using You Only Look Once version 4 (YOLOv4). RESULTS: The accuracy of the classification models was as follows: MobileNetV2 (epoch 50, accuracy: 98.57%) > Xception (epoch 70, accuracy: 97.47%) > InceptionV3 (epoch 70, accuracy: 89.62%). In the case of object detection, the accuracy of YOLOv4 was 98.62% at epoch 3000. CONCLUSIONS: Among the classification models, MobileNetV2 had the best accuracy despite applying a lower epoch than InceptionV3 and Xception. The object detection model, YOLOv4, accurately and simultaneously diagnosed tubular basophilia and mineralization, with an accuracy of 98.62% at epoch 3000.

RESUMEN

The basophils, first described by Paul Ehlrich in 1879, are rare circulating cells, representing approximately 0.01 to 0.3% of the blood leukocytes. Until recently, these cells have been neglected because of their minority status among immune cells and because they show some similarities to mast cells residing in tissues. However, basophils and mast cells are now recognized as distinct cell lines and it appears that basophils have important and non-redundant functions, distinct from those of mast cells. On the one hand, basophils have beneficial contribution to protective immunity, in particular against parasitic infections. On the other hand, basophils are involved in the development of various benign and malignant pathologies, ranging from allergy to certain leukemias. Basophils interact with other immune cells or neoplastic cells through direct contacts or soluble mediators, such as cytokines and proteases, thus contributing to the regulation of the immune system but also to allergic responses, and probably to the process of neoplastic transformation. In this review, we will develop recent knowledge on the involvement of basophils in the modulation of innate and adaptive immunity. We will then describe the benign or malignant circumstances in which an elevation of circulating basophils can be observed. Finally, we will discuss the role played by these cells in the pathophysiology of certain leukemias, particularly during chronic myeloid leukemia.

Asunto(s)

Hipersensibilidad , Leucemia , Basófilos , Citocinas , Humanos

RESUMEN

The following fictional case is intended as a learning tool within the Pathology Competencies for Medical Education (PCME), a set of national standards for teaching pathology. These are divided into three basic competencies: Disease Mechanisms and Processes, Organ System Pathology, and Diagnostic Medicine and Therapeutic Pathology. For additional information, and a full list of learning objectives for all three competencies, see http://journals.sagepub.com/doi/10.1177/2374289517715040.1.

RESUMEN

Chronic myeloid leukemia (CML) is the most common chronic myeloproliferative disorder, which was the first to be described and understood at a molecular level. Marked basophilia can be seen in CML and other neoplastic and reactive processes. Tryptase is a serine protease that is mainly expressed in mast cells, whereas basophils express only trace amounts of the enzyme. Therefore, it has always been regarded as a specific marker for mast cells. We report a case of a 41-year-old male who had been diagnosed with CML eight years ago, and, interestingly, his most recent bone marrow biopsy demonstrated an accelerated phase of the disease with a significant increase of basophils count. These basophils were immunoreactive with tryptase along with CD123. In the literature, this phenomenon of tryptase immunoreactivity by basophils has been described in association with CML, primary myelofibrosis, and myelodysplastic syndrome. Therefore, our finding supports these data and suggests that tryptase should not be regarded as a specific marker for mast cells when approaching various myeloid neoplasms including CML.

RESUMEN

The absolute basophil count (cells/L) can be determined by manual counting of peripheral blood smears or using cell counting chambers as well as by automated hematology analyzers and fluorescence flow cytometry. Manual basophil counting of peripheral blood smears is currently regarded as the reference method, although the limitations of this method (distribution, observer, and statistical errors) are widely recognized. Automated hematology analyzers offer an advantage of larger numbers of counted cells and high throughput but are characterized by inconsistent analytical performance for basophil enumeration. Flow cytometric enumeration of circulating basophils using panels of monoclonal antibodies is being developed as novel candidate reference method for the absolute basophil count in peripheral blood. Basophil counting using fluorescence flow cytometry is characterized by high precision and statistical superiority. Emerging innovative technologies for absolute cell counts include imaging flow cytometry, mass cytometry, and on-chip blood counting, but their analytical performance for absolute basophil counts is yet to be established. Here, we describe various techniques for absolute basophil counting in peripheral blood including manual basophil counts in smears and hemocytometers and flow cytometric methodologies using double-platform, bead-based, and volumetric approaches.

Asunto(s)

Basófilos/citología , Citometría de Flujo/métodos , Basófilos/clasificación , Basófilos/metabolismo , Citometría de Flujo/normas , Humanos , Recuento de Leucocitos/métodos , Recuento de Leucocitos/normas , Estándares de Referencia

RESUMEN

Background: Basophilia of the peripheral blood (PBB) has rarely been described in patients with ulcerative colitis (UC).Objective: This study aimed to determine the frequency of PBB in patients with UC and to examine a potential correlation of PBB with markers of inflammation.Methods: We compared retrospectively the basophil counts and the occurrence of basophilia (>200 basophils/µL) between 165 patients with UC and 35 controls, and analysed the correlation between the basophil count and the C-reactive protein (CRP).Results: Within the study period, data from 1750 leukocyte differential count determinations of UC patients and 158 results from control subjects were available in the medical records and were statistically analysed. The differences in the basophil counts between the UC and the control group were not statistically significant (60/µL (0-351) vs. 49/µL (0-184), p = .26). Basophilia was apparent in 23 measurements of 10 patients with UC, but was not observed in the controls (p = .30). The basophil count was not significantly correlated with the CRP (p = .065, r = 0.04).Conclusions: Our findings suggest that PBB represents an uncommon and not disease-specific laboratory feature of UC. It is not correlated with the CRP and may not represent a useful biomarker for disease monitoring in UC.

Asunto(s)

Basófilos/citología , Colitis Ulcerosa/sangre , Recuento de Leucocitos , Adulto , Anciano , Anciano de 80 o más Años , Biomarcadores/sangre , Proteína C-Reactiva/análisis , Femenino , Humanos , Inflamación/sangre , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Índice de Severidad de la Enfermedad , Adulto Joven

RESUMEN

Basophilia is a rare disorder of the complete blood count (CBC) and its management in daily practice remains unclear. Two main factors explain this situation. On the one hand, the reliability of the basophil count is insufficient, whether it is performed by a microscopic slide examination or by a hematology analyser. On the other hand, our knowledge of conditions associated with basophilia is largely based on few case reports and on reviews that refer to older reviews. The association between basophilia and myeloid neoplasm, especially chronic myeloid neoplasm, is well established. Conversely, there are conflicting data on some benign medical conditions and it remains unclear where basophilia may be present. In this review, we have investigated the medical literature to define which medical conditions can lead to basophilia and which cannot, and we propose a practical approach to manage basophilia divided into 3 steps. First, we have to check the real existence of the basophilia by getting rid of spurious basophilia. Then, we have to look for symptoms that suggest reactive basophilia and for clue of a neoplastic cause. Finally, in case of suspicion of a myeloid neoplasm or persistence of the basophilia in the absence of a reactive cause, we have to decide which examinations need to be prescribed to confirm a neoplastic basophilia.

Asunto(s)

Basófilos , Neoplasias Hematológicas , Trastornos Mieloproliferativos , Basófilos/metabolismo , Basófilos/patología , Neoplasias Hematológicas/diagnóstico , Neoplasias Hematológicas/metabolismo , Neoplasias Hematológicas/patología , Neoplasias Hematológicas/terapia , Humanos , Trastornos Mieloproliferativos/diagnóstico , Trastornos Mieloproliferativos/metabolismo , Trastornos Mieloproliferativos/patología , Trastornos Mieloproliferativos/terapia

RESUMEN

El leucograma, es uno de los estudios de rutina más solicitados en el laboratorio, la desviación de los valores de las diferentes subpoblaciones leucocitarias respecto al intervalo de referencia contribuye a la orientación sobre la posible etiología de un estado de enfermedad. El hallazgo de eosinofilia y/o basofilia absolutas, debe ser estudiado para conocer la causa subyacente. En el curso de una parasitosis, puede ser el único signo anormal o formar parte del cuadro clínico-biológico del paciente. Se presenta el caso de un niño de 4 años que cursa con una parasitosis por Echinococcus granulosus

---

The leukogram is one of the most requested routine studies in the laboratory; the deviation of the values of the different leukocyte subpopulations from the reference interval contributes to the orientation on the possible etiology of a disease state. The finding of absolute eosinophilia and/or basophilia must be studied to know the underlying cause. In the course of parasitosis, it may be the only abnormal sign or form part of the patient's clinical-biological state. The case of a 4-yearold boy with an Echinococcus granulosus parasite is presented

RESUMEN

Basophils are white blood cells that play an important role in the human immune system. These cells physiologically increase in number in immune response to certain allergies, chronic inflammation, and parasitic infections. Basophils are also a significant indicator for the presence of certain malignancies such as chronic myeloproliferative neoplasms and acute myeloid leukemia. In the current manuscript we present a statistically significant correlation between persistent basophilia in primary myelofibrosis (PMF) and the risk for the subsequent development of acute myeloid leukemia. We have retrospectively identified in the files of the Department of Hematology, Ion Chiricuta Clinical Cancer Center in Cluj Napoca, Romania 623 consecutive patients diagnosed with AML over a period spanning from 2008 to 2018. We afterwards identified 32 patients with AML diagnosis following a previous diagnosis of myelofibrosis (either post-PV, post-ET, or post-PMF). All the patients were diagnosed according to the WHO criteria. We subsequently established a control group consisting of 32 patients with underlying BCR-ABL-negative MPN who did not develop AML (AML-negative group). Following this, we assessed whether the AML-negative patients from our control group also had a persistent (>3 months) absolute basophilia. When comparing both groups of patients with myelofibrosis, the group with subsequent AML development and the one without AML, the follow-up did not present statistically significant differences between the two groups. In the univariate analysis, patients who progressed to AML had more frequently basophilia, longer basophilia duration, higher pre-therapy absolute, and relative basophil count and presented more frequently calreticulin (CALR) mutations. In the current study, we emphasize the need for a closer clinical monitoring for chronic MPNs with marked basophilia, with an important potential clinical impact.

RESUMEN

Chronic myeloid leukaemia (CML) is a hematopoietic neoplasm defined by the chromosome translocation t(9;22) and the related oncogene, BCR-ABL1. In most patients, leukaemic cells can be kept under control using BCR-ABL1-targeting drugs. However, many patients relapse which remains a clinical challenge. In particular, patients with advanced (accelerated or blast phase) CML have a poor prognosis. So far, little is known about molecular and cellular interactions and features that contribute to disease progression and drug resistance in CML. One key prognostic factor at diagnosis is marked basophilia. However, although basophils are well-known multifunctional effector cells, their impact in CML remains uncertain. In this article, we discuss the potential role of basophils as active contributors to disease evolution and progression in CML. In particular, basophils serve as a unique source of inflammatory, angiogenic and fibrogenic molecules, such as vascular endothelial growth factor or hepatocyte growth factor. In addition, basophils provide vasoactive substances, like histamine as well as the cytokine-degrading enzyme dipeptidyl-peptidase IV which may promote stem cell mobilization and the extramedullary spread of stem and progenitor cells. Finally, basophils may produce autocrine growth factors for myeloid cells. Understanding the role of basophils in CML evolution and progression may support the development of more effective treatment concepts.

Asunto(s)

Basófilos/fisiología , Leucemia Mielógena Crónica BCR-ABL Positiva/patología , Antígenos de Neoplasias/metabolismo , Basófilos/inmunología , Biomarcadores de Tumor/metabolismo , Progresión de la Enfermedad , Predicción , Humanos , Leucemia Mielógena Crónica BCR-ABL Positiva/etiología , Células Madre Neoplásicas/patología , Células Madre Neoplásicas/fisiología , Microambiente Tumoral/inmunología , Microambiente Tumoral/fisiología

RESUMEN

To the best of our knowledge, this manuscript describes clinical and pathologic findings of the first case of acute mast cell leukemia harboring t(4;5)(q21;q33), compatible with fusion of the PDGFRB gene to a rare partner, PRKG2. Translocation involving the PDGFRB gene is confirmed by fluorescence in situ hybridization study. This case presented a relatively fulminant clinical course with acute mast cell leukemia and "C" findings (cytopenia, hepatosplenomegaly, and weight loss), mast cell sarcoma, and severe basophilia. Despite aggressive presentation initially, the patient responded well to tyrosine kinase inhibitor treatment and is currently in complete remission 33 months after diagnosis. This case significantly extends the disease spectrum associated with PRKG2/PDGFRB fusion gene. Recognizing the whole spectrum of diseases associated with this fusion is critical because tyrosine kinase inhibitor treatment has been exceedingly effective in these patients.

Asunto(s)

Biomarcadores de Tumor/genética , Cromosomas Humanos Par 4 , Cromosomas Humanos Par 5 , Leucemia de Mastocitos/genética , Translocación Genética , Enfermedad Aguda , Antineoplásicos/uso terapéutico , Biopsia , Proteína Quinasa Dependiente de GMP Cíclico Tipo II/genética , Fusión Génica , Predisposición Genética a la Enfermedad , Humanos , Mesilato de Imatinib/uso terapéutico , Inmunohistoquímica , Leucemia de Mastocitos/tratamiento farmacológico , Leucemia de Mastocitos/enzimología , Leucemia de Mastocitos/patología , Masculino , Persona de Mediana Edad , Técnicas de Diagnóstico Molecular , Terapia Molecular Dirigida , Fenotipo , Inhibidores de Proteínas Quinasas/uso terapéutico , Receptor beta de Factor de Crecimiento Derivado de Plaquetas/genética , Inducción de Remisión , Factores de Tiempo , Resultado del Tratamiento

RESUMEN

Prognosis of acute myeloid leukemia relies heavily on the cytogenetic and molecular abnormalities. AML1-ETO fusion protein resulting from t(8;21), a recurring cytogenetic abnormality, is known to be associated with favorable prognosis. Additional molecular defects may, however, co-operate with the fusion proteins and alter the course of the disease. Among the additional cytogenetic defects, presence of Philadelphia (Ph) chromosome has rarely been documented in this subtype. Little is known about the consequences of its interactions with AML1-ETO, and its effect on morphological and clinical picture. Moreover, Ph+ clones or subclones may appear at any point during the disease course. We herein report one such unusual case of a 26-year-old female, who was diagnosed to have t(8;21) and managed accordingly. During disease relapse after 2.5years, the bone marrow showed extensive eosinophilia and basophilia. Subsequent molecular testing showed the presence of BCR-ABL in addition to the AML1-ETO fusion product.

Asunto(s)

Subunidad alfa 2 del Factor de Unión al Sitio Principal/genética , Proteínas de Fusión bcr-abl/genética , Leucemia Mieloide Aguda/diagnóstico , Proteínas de Fusión Oncogénica/genética , Adulto , Médula Ósea/metabolismo , Médula Ósea/patología , Cromosomas Humanos Par 21 , Cromosomas Humanos Par 8 , Femenino , Humanos , Reacción en Cadena de la Polimerasa , Proteína 1 Compañera de Translocación de RUNX1 , Recurrencia , Translocación Genética

RESUMEN

Basophilia in peripheral blood as well as bone marrow is an unusual finding, seen in certain reactive and neoplastic conditions. Amongst the malignant hematological diseases, it is a diagnostic hall mark of chronic myeloproliferative disorders, particularly, chronic myeloid leukemia. Basophilia may also be seen in cases acute myeloid leukemia, particularly FAB AML M2 and M4. Here we document an interesting case of de novo acute myeloid leukemia which had extensive peripheral blood and bone marrow basophilia. Molecular analysis revealed p190, bcr-abl fusion transcript. A short clinical course, absence of organomegaly and features suggestive of an underlying myeloproliferative disorder, aided in establishing a diagnosis of Philadelphia positive de novo acute myeloid leukemia.

RESUMEN

Basophilia is commonly associated with chronic myelogenous leukemia, notably in the accelerated phase or during blast crisis. It is also associated with other myeloproliferative neoplasms. However, its association with acute leukemia is very rare and is described in association with acute basophilic leukemia and few acute myeloid leukemias (AMLs) with recurrent genetic abnormalities such as t(6;9)(p23;q34). Herein, we describe the morphological features and discuss the differential diagnosis of a case of AML with the blasts showing previously unreported unusual combination of megakaryoblastic and basophilic differentiation along with peripheral blood and bone marrow basophilia.

Asunto(s)

Basófilos/patología , Médula Ósea/patología , Leucemia Mieloide Aguda/patología , Células Progenitoras de Megacariocitos/patología , Adolescente , Diagnóstico Diferencial , Femenino , Humanos , Leucemia Mieloide Aguda/diagnóstico

RESUMEN

The myeloid and lymphoid neoplasms with eosinophilia and PDGFRA gene rearrangements usually show a good response to Imatinib and are typically associated with a normal karyotype, occasionally exhibiting a secondary chromosomal abnormality associated with clonal evolution. Five variant translocations involving PDGFRA have been reported. Here, we report a rare case of therapy-related acute myeloid leukemia with PDGFRA rearrangement after chemotherapy for prior B lymphoblastic leukemia (B-ALL). The patient had a history of BCR-ABL negative, hypodiploid B-ALL in complete remission after chemotherapy. However, 15 months later the patient developed acute myeloid leukemia with rapidly increasing eosinophilia, basophilia and a complex karyotype that included a novel t(4;14)(q12;q24). FIP1L1 was not associated with the PDGFRA rearrangement. The patient had a very aggressive clinical course, and died from the disease shortly after diagnosis. This is the first case of a primary therapy-related myeloid neoplasm with secondary PDGFRA rearrangement. The t(4:14)(q12;q24) is joining the growing list of the variant translocations involving PDGFRA.

Asunto(s)

Antineoplásicos/efectos adversos , Basófilos/efectos de los fármacos , Biomarcadores de Tumor/genética , Cromosomas Humanos Par 14 , Cromosomas Humanos Par 4 , Eosinofilia/inducido químicamente , Reordenamiento Génico , Leucemia Mieloide Aguda/inducido químicamente , Leucemia Mieloide Aguda/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras B/tratamiento farmacológico , Receptor alfa de Factor de Crecimiento Derivado de Plaquetas/genética , Translocación Genética , Anciano , Basófilos/inmunología , Examen de la Médula Ósea , Progresión de la Enfermedad , Eosinofilia/diagnóstico , Eosinofilia/inmunología , Resultado Fatal , Predisposición Genética a la Enfermedad , Humanos , Cariotipificación , Leucemia Mieloide Aguda/diagnóstico , Leucemia Mieloide Aguda/inmunología , Masculino , Fenotipo , Leucemia-Linfoma Linfoblástico de Células Precursoras B/diagnóstico , Factores de Tiempo

RESUMEN

BACKGROUND: Mast cell leukemia (MCL) is rare type of neoplasia with an incidence of 1% in a large series of 342 adult patients with systemic mastocytosis (SM). Chronic basophilic leukemia (CBL) is an extremely rare type of leukemia with appearance of 7 cases in the literature. CASE PRESENTATION: A 73 year-old female patient who presented with weaknes, had a prolonged duration of hematologic remission after treatment of her CBL by hydroxyurea (HU). Evolution of SM occurring as a second neoplasia concurrently with relapse of de novo CBL was demonstrated by mast cells (MCs) infiltration in the bone marrow (BM) biopsy and smear and increase in tryptase level. Transformation to MCL with simultaneous occurrance of accelerated phase of CBL were documented by the appearance of MCs in both BM and peripheral blood (PB) smears, antigen expressions detected by flow cytometry and spesific stains. Sequence analysis of c-kit gene revealed c-kit exon 11 K550N mutation. Undefined associations of MCL with different mast cell morphology, increase in IL-6 level and accelerated phase of de novo CBL was described. CONCLUSION: Elevations in CRP and IL-6 levels occurring with increases in basophil counts to high levels revealed that febrile episodes with abdominal pain seen in our patient were induced by increase in IL-6 levels released from neoplastic basophils. Neoplastic basophils with diffuse and coarse basophilic granules possibly mimic neutrophils with toxic granules and cause wrong characterization of neoplastic basophils as neutrophils by the automated blood cell counters and misleaded physicians.