Subject(s)
Carcinoma/pathology , Sarcoma, Synovial/pathology , Soft Tissue Neoplasms/pathology , Adult , Biomarkers, Tumor/metabolism , Biopsy , Carcinoma/metabolism , Carcinoma, Squamous Cell/metabolism , Carcinoma, Squamous Cell/pathology , Diagnosis, Differential , Diagnostic Errors , Female , Forearm , Humans , Immunohistochemistry , Sarcoma, Synovial/classification , Sarcoma, Synovial/metabolism , Soft Tissue Neoplasms/metabolismSubject(s)
Kidney Neoplasms/genetics , Leukemia, Myeloid/genetics , Oncogene Proteins, Fusion , Transcription Factors/analysis , Adult , Core Binding Factor Alpha 2 Subunit , Female , Humans , Kidney Neoplasms/diagnosis , Leukemia, Myeloid/diagnosis , Polymerase Chain Reaction , RNA, Messenger/analysis , RUNX1 Translocation Partner 1 Protein , Recombinant Fusion Proteins/analysisABSTRACT
We investigated the molecular defect underlying congenital factor X (FX) deficiency in a Japanese patient. A novel three-base-pair deletion was identified within intron D of the FX gene. An allele-specific restriction analysis showed the propositus was homozygous and her two daughters were heterozygous for the deletion. It was not detected in 53 unrelated Japanese (106 alleles), indicating a probable cause of the FX deficiency. The deletion resides within a polypyrimidine tract of the acceptor splicing site where U2 snRNP binds to form spliceosomes. The defect could alter the formation of spliceosomes, resulting in incorrect splicing and decreased FX production.
Subject(s)
Factor X Deficiency/genetics , Introns , Sequence Deletion , Animals , Base Sequence , Blotting, Western , Humans , Male , Middle Aged , Molecular Sequence Data , Polymerase Chain Reaction , Spliceosomes/geneticsABSTRACT
A 26-year-old man, diagnosed with acute myelogenous leukemia had multiple inflammatory pseudotumors (IPT) in the liver. The patient presented complete remission after remission induction therapy, and then showed right upper quadrant discomfort and intermittent fever. An ultrasonography disclosed multiple hypoechoic nodules in the liver. A biopsy of the nodules showed focal liver cell necrosis with scant inflammatory cells, compatible with IPT. After several courses of chemotherapy, the nodules in the liver increased. The second liver biopsy of the nodule showed fibrosis. Multiple IPTs in the liver should be distinguished from abscess and metastatic nodules.
Subject(s)
Granuloma, Plasma Cell/complications , Leukemia, Myeloid, Acute/complications , Liver Diseases/complications , Adult , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Biopsy, Needle , Cytarabine/administration & dosage , Cytarabine/analogs & derivatives , Daunorubicin/administration & dosage , Diagnosis, Differential , Granuloma, Plasma Cell/diagnosis , Granuloma, Plasma Cell/pathology , Humans , Leukemia, Myeloid, Acute/drug therapy , Liver Abscess/diagnosis , Liver Diseases/diagnosis , Liver Diseases/pathology , Liver Neoplasms/diagnosis , Liver Neoplasms/secondary , Magnetic Resonance Imaging , Male , Mercaptopurine/administration & dosage , Prednisolone/administration & dosage , Tomography, X-Ray ComputedABSTRACT
All-trans retinoic acid (ATRA) induces complete remission (CR) in most cases of acute promyelocytic leukemia (APL). Toxicity of ATRA has been shown to be mild and consist of headache, dry skin, dermatitis, gastrointestinal disorders, and hypertriglyceridemia. We report three patients with APL treated with ATRA in combination with chemotherapy, who developed scrotum exfoliative dermatitis with ulceration. Their age was 33 years (range, 25 to 37). All three cases developed scrotum erosions, and many small ulcers after 9 to 17 days of ATRA treatment. The scrotum exfoliative dermatitis with ulceration occurred repeatedly, but gradually resolved in about 8 weeks time. They developed no dryness of the lip or skin apart from the scrotum. All three cases continued to receive 45 mg/m2 of ATRA daily throughout induction therapy, and achieved CR. We suspected the scrotum exfoliative dermatitis with ulceration to be a side effect of ATRA. The scrotum lesions, which have been already reported may be common in patients receiving ATRA.
Subject(s)
Antineoplastic Agents/adverse effects , Dermatitis, Exfoliative/chemically induced , Leukemia, Promyelocytic, Acute/drug therapy , Scrotum , Skin Ulcer/chemically induced , Tretinoin/adverse effects , Adult , Antineoplastic Agents/therapeutic use , Humans , Male , Tretinoin/therapeutic useABSTRACT
Bernard-Soulier syndrome (BSS) is a rare inherited bleeding disorder which is caused by a qualitative or quantitative abnormality of the platelet glycoprotein (GP) Ib/IX/V complex. We examined a patient with BSS to find a molecular basis for the defect underlying this disease. The propositus was a 39-year-old Japanese female with life-long bleeding diathesis. Sequence analysis of the GPIX gene revealed a T-->C point mutation at nucleotide 1856 (EMBL, M80478), resulting in Phe55(TTT)-->Ser(TCT) replacement. This substitution created a new MnlI restriction site in the mutant allele. Restriction analysis revealed that the propositus was homozygous for this sequence, and the same mutation was not detected in 57 unrelated Japanese subjects. Since this mutation is located in the leucine-rich motif (LRM) of the GPIX polypeptide, the Phe55-->Ser substitution may result in an alteration of the LRM which leads to the impaired surface expression of GPIb/IX/V complex, a characteristic of BSS.
Subject(s)
Bernard-Soulier Syndrome/genetics , Platelet Glycoprotein GPIb-IX Complex/genetics , Point Mutation , Adult , Autoradiography , Blotting, Western , Cytosine , Female , Flow Cytometry , Hemorrhagic Disorders/genetics , Humans , Molecular Sequence Data , Phenylalanine/genetics , Polymerase Chain Reaction , Serine/genetics , Thiamine/geneticsSubject(s)
Bernard-Soulier Syndrome/genetics , Platelet Glycoprotein GPIb-IX Complex/genetics , Point Mutation , Polymorphism, Genetic/genetics , Asian People/genetics , Bernard-Soulier Syndrome/ethnology , Deoxyribonucleases, Type II Site-Specific , Gene Frequency , Humans , Japan , Polymerase Chain Reaction , Sequence Analysis, DNAABSTRACT
Effects of etoposide (VP-16) and cytosine arabinoside (Ara-C) on the cell cycle of HL-60 and THP-1 cells were studied by flow cytometry using the bromodeoxyuridine (BrdU)/DNA assay technique to investigate the efficacy of VP-16 for monocytic leukemia cells. VP-16 inhibited the proliferation of THP-1 cells more strongly than that of HL-60 cells at any concentrations used at 24 and 48 hr. VP-16 arrested HL-60 and THP-1 cells in the G2/M phase and reduced them in the G0/G1 and early S phase at higher concentrations. There was no significant difference in the percentage of G2/M phase cells at the same concentration between both cells. However, reduction in the G0/G1 and early S phase cells was more marked in THP-1 than HL-60 cells significantly. On the other hand, Ara-C perturbed the cell cycle of HL-60 cells more than that of THP-1 cells at 24 and 48 hr. These results suggest that the effects of VP-16 on the cell cycle may be more intense in THP-1 than HL-60 cells, and support the efficacy of VP-16 for treating monocytic leukemia in vivo.
