Scleromyxedema in a 21\xa0year old female patient with acute lymphoblastic leukemia: a case report

Paraneoplastic atypical scleromyxedema with advanced gastric cancer

Updated classification of papular mucinosis, lichen myxedematosus, and scleromyxedema

P311 - Caractéristiques cliniques du lichen unguéal : 58 cas

Clinical characteristics of cytomegalovirus-positive pediatric acute lymphoblastic leukemia at diagnosis.

The expression of the T6 antigen on malignant lymphoid cells has been considered strong evidence in support of T-cell lineage and thymic stage of differentiation of the neoplastic cells. Thus, the authors have used the T6 monoclonal antibody for the last three years in the immunophenotyping of blasts from 60 consecutive cases of acute lymphocytic leukemia (ALL) and 8 cases of T-cell lymphoma. Blasts from 12 of 46 (26%) cases of common type ALL, 4 of 7 (57%) cases of T-cell ALL, 2 of 3 (66%) cases of lymphoblastic lymphoma, and 1 of 5 (20%) cases of peripheral (postthymic) T-cell lymphoma were positive for the T6 antigen. The authors conclude that the expression of T6 antigen on malignant lymphoid cells may not always indicate T-cell lineage.

Nestin is a neuroepithelial stem cell marker that is expressed in some types of tumor cells. Recent reports suggest that Nestin may be closely related to malignant cell proliferation and migration. Acute leukemia (AL) is characterized by a lack of differentiation, which results in uncontrolled proliferation in the bone marrow and accumulation of immature cells. The expression and function of Nestin in AL is unclear. We investigated Nestin immunohistochemical patterns of 87 patients that included 47 cases of acute myeloid leukemia (AML) and 40 cases of acute lymphoblastic leukemia (ALL), and 20 patients in complete remission (CR) from AML or ALL. We also investigated the clinico-pathological features of 87 cases of AL and their CR and overall survival (OS). Nestin was expressed in leukemic blasts and mature granulocytic cells in most cases (39/47) of AML. Conversely, Nestin was expressed in mature granulocytic cells in fewer cases (6/40) of ALL, but not in blasts. Nestin expression appeared in leukemic blasts of AML, but not ALL. Nestin expression in AML blast cells was not associated with CR or OS. We provide evidence that Nestin is expressed in AL and might be a useful immunohistochemical marker for identifying AML and ALL.

Human Leukocyte Metabolism in Vitro: II. The Effect of 6-Mercaptopurine on Formate-C14 Incorporation into the Nucleic Acids of Acute Leukemic Leukocytes

要旨頭部外傷による急性硬膜下血腫の治療中に明らかになった急性リンパ性白血病の1例を報告する。患者は6歳の男児。頭部打撲後に嘔吐，意識障害を伴って当科に救急搬送された。搬入時，深昏睡，瞳孔不同などから頭蓋内出血を疑い，緊急気管挿管後に頭部CTを施行した。急性硬膜下血腫の診断で緊急穿頭血腫除去術および開頭血腫除去術を行った。術後経過は良好であったが，汎血球減少を認めたため骨髄生検を施行した。急性リンパ性白血病の診断となり，頭蓋形成術後に化学療法を開始し，寛解を得た．重症頭部外傷では，出血や輸血，炎症などにより採血データに修飾が加わり，受傷直後の白血病の鑑別は困難であるが，経時的な観察により感知可能である。また，頭蓋内出血を伴う白血病においては，その治療にあたり，中枢神経浸潤を考慮する必要がある。

To characterize the incidence, clinical features and genetics of ETV6-ABL1 leukemias, representing targetable kinase-activating lesions, we analyzed 44 new and published cases of ETV6-ABL1-positive hematologic malignancies [22 cases of acute lymphoblastic leukemia (13 children, 9 adults) and 22 myeloid malignancies (18 myeloproliferative neoplasms, 4 acute myeloid leukemias)]. The presence of the ETV6-ABL1 fusion was ascertained by cytogenetics, fluorescence in-situ hybridization, reverse transcriptase-polymerase chain reaction and RNA sequencing. Genomic and gene expression profiling was performed by single nucleotide polymorphism and expression arrays. Systematic screening of more than 4,500 cases revealed that in acute lymphoblastic leukemia ETV6-ABL1 is rare in childhood (0.17% cases) and slightly more common in adults (0.38%). There is no systematic screening of myeloproliferative neoplasms; however, the number of ETV6-ABL1-positive cases and the relative incidence of acute lymphoblastic leukemia and myeloproliferative neoplasms suggest that in adulthood ETV6-ABL1 is more common in BCR-ABL1-negative chronic myeloid leukemia-like myeloproliferations than in acute lymphoblastic leukemia. The genomic profile of ETV6-ABL1 acute lymphoblastic leukemia resembled that of BCR-ABL1 and BCR-ABL1-like cases with 80% of patients having concurrent CDKN2A/B and IKZF1 deletions. In the gene expression profiling all the ETV6-ABL1-positive samples clustered in close vicinity to BCR-ABL1 cases. All but one of the cases of ETV6-ABL1 acute lymphoblastic leukemia were classified as BCR-ABL1-like by a standardized assay. Over 60% of patients died, irrespectively of the disease or age subgroup examined. In conclusion, ETV6-ABL1 fusion occurs in both lymphoid and myeloid leukemias; the genomic profile and clinical behavior resemble BCR-ABL1-positive malignancies, including the unfavorable prognosis, particularly of acute leukemias. The poor outcome suggests that treatment with tyrosine kinase inhibitors should be considered for patients with this fusion.

Development of a Diagnostic Support System for Hematological Disorders Using a Self-Organizing Map.

Leukemia and P32 radionuclide synovectomy for hemophilic arthropathy.

Objective To introduce the laboratory and clinical characteristics of acute lymphoblastic leukemia accompanied by the karyotypic abnormality of 5q-.Methods Report the diagnosis and treatment of one case of acute lymphoblastic leukemia with 5q- and review the relevant literatures.Results The patient came to the hospital because of bellyache and ostalgia.The blood routine showed a high WBC count and reduced platelets.Bone marrow aspirates examination indicated acute leukemia and by peroxidase staining and flow cytometry test,acute pro-T lymphoblastic leukemia was diagnosed.The karyotype and fluorescence in situ hybridization analysis showed 5q-.The hyper-CVAD regimen induced a temporary remission but it did not work anymore after the relapse nor did the MEA regimen.From the literatures ever reported,the kyryotypic abnormality of 5q- was rarely seen in acute lymphoblastic leukemia.In such cases,the minimal deletion region overlaped between marks of D5S410 and D5S436 corresponding to chromosomal location 5q31-33.Conclusion 5q- is rare in acute lymphoblastic leukemia and more features are still to be found about the kind of disorder. Key words: Leukemia biphenotypic, acute; Chromasome deletion

The value of flow cytometric detection of myeloperoxidase (MPO) in the differential diagnosis of acute leukemia was evaluated in 57 cases of acute leukemia and in 9 leukemia cell lines. Cells were fixed and permeabilized with Fix & Perm cell permeabilization kit at room temperature for 15 min each, and stained with anti-MPO monoclonal antibody (MPO-7) by direct immunofluorescence. One myeloid cell line, HL-60, was MPO-positive, while the other myeloid cell lines (KG-1, K-562, and MEG-01) as well as lymphoid cell lines (KM-3, NALM-6, Raji, REH, and T-ALL-1) were MPO-negative as previously described. Among acute leukemias, MPO was detected in 23 of 26 cases of acute myeloid leukemia (AML), 7 of 23 cases of B-lineage acute lymphoblastic leukemia (ALL), 1 of 6 cases of T-lineage ALL (T-ALL), and 1 of 2 cases of acute unclassified leukemia (AUL). The intensity of MPO expression in 6 of 7 B-lineage ALL cases was weak compared with AML labeling. There was no detectable cytochemical MPO in the cells of ALL, AUL, or AML that stained negative for anti-MPO. No relationship between the expression of MPO and myeloid lineage surface antigens was observed in ALL. Three cases of MPO-positive ALL and AUL could be reclassified as biphenotypic leukemia according to the revised Catovsky scoring system. These results indicate that anti-MPO is an excellent marker for the diagnosis and classification of acute leukemia and can be reliably detected by flow cytometry. This rapid technique should be a valuable addition to routine immunophenotyping of acute leukemia.

Wiedemann-Steiner syndrome (WSS) is a congenital malformation syndrome characterized by intellectual disability, developmental delay, and distinctive facial features, caused by germline mutations in the KMT2A gene. Despite the key role of KMT2A in hematopoiesis, leukemia has not been previously reported in WSS patients. This report presents the first documented case of acute lymphoblastic leukemia (ALL) in a WSS patient. A 16-year-old boy with developmental delay, distinct facial features, and genital abnormalities was diagnosed with WSS following the identification of a heterozygous frameshift mutation in KMT2A. At age 17, he developed T-cell ALL harboring the KMT2A-CBL fusion gene, of which only nine cases have been reported so far. cDNA sequence analysis of the KMT2A-CBL transcript at the site of the germline KMT2A pathogenic variant revealed a wild-type sequence, indicating that the KMT2A-CBL fusion occurred on the wild-type allele. While this observation suggests a potential cooperative role of the KMT2A-CBL chimeric gene and the germline KMT2A pathogenic mutation in leukemogenesis, the rarity of leukemia in WSS underscores the need for cautious interpretation. This case provides preliminary insights into a possible mechanism of leukemogenesis in WSS, but further studies are required to clarify the relationship between WSS and ALL.

Flow Cytometric Assessment of CD30 Expression in Adult Patient with Acute Leukemia