bola/tyrosine

A 31-year-old woman presented with a nasal voice, dysarthria, and upper limb weakness during her first pregnancy. Soon after delivery of her first baby, her symptoms disappeared. At the age of 34 years, during her second pregnancy, her nasal voice re-appeared. After delivery of the second baby, her

Report a female diagnosed as type 1 Gaucher disease after a femoral pathologic fracture when she was 55 years old. Enzyme replacement therapy was started, and she achieved therapeutic goals. In 2015, a Ph' CML with numerous pseudo-Gaucher cells in bone marrow appears. BCR/ABL was not present at GD

OBJECTIVE Aggressive fibromatosis (AF) is usually a slowly growing locally invasive tumor, but may exhibit a much more aggressive phenotype. The role of chemotherapy in AF is not well defined, but can be useful in some cases. We examined the response of a case to both imatinib and

OBJECTIVE To evaluate ABL tyrosine kinase point mutations in imatinib treated chronic myelogenous leukemia (CML) patients. METHODS A total of 45 bone marrow samples from 30 CML patients were included in this work. The patients were in accelerated/blast phase (AP/BP) or late-chronic phase (CP) at the

We report a patient who developed chronic myelogenous leukemia (CML) at 12 months of age. She was treated aggressively with stem cell transplant (SCT), interferon, donor lymphocytes and imatinib, with subsequent molecular progression. She received dasatinib, achieving a complete molecular response.

Uncommon mutations account for 10-15% of epidermal growth factor receptor (EGFR) mutations in patients with non-small-cell lung cancer. Afatinib is currently the most efficient EGFR-tyrosine kinase inhibitor (TKI) against uncommon EGFR mutations. Here we report a 56-year-old woman presenting with

The presence of epidermal growth factor receptor (EGFR) mutation is a prognostic and predictive marker for EGFR-tyrosine kinase inhibitor (TKI) therapy. However, inevitably, relapse occurs due to the development of acquired resistance, such as T790M mutation. We report a case of repeated responses

BACKGROUND Childhood onset myasthenia gravis associated with anti-muscle-specific tyrosine kinase antibodies is very rare and atypical in presentation. METHODS As a baby, the pre- sented patient was choking and sleeping with open eyes. She had weak cry and breathing difficulties. In childhood, there

Tyrosine hydroxylase deficiency is a rare autosomal recessive, treatable disorder of neurotransmission. Fewer than 100 cases have been reported so far. We present a case of a 10-month-old infant who was symptomatic since 5 months of age and who received an initial diagnosis of infantile tremor

A 54-year-old woman was admitted to our hospital because of diplopia, dysphagia, dropped head, and muscle weakness with easy fatigability. A neurological examination showed bilateral ptosis, ocular motility disorder, dysphagia, and weakness of the neck extensor muscles. Edrophonium and repetitive

We report two cases of gastrointestinal perforation (GIP) after radiotherapy in patients receiving tyrosine kinase inhibitor (TKI) for advanced renal cell carcinoma (RCC). Case 1 was a 61-year-old woman with lung metastases after a radical nephrectomy for a right RCC (cT3aN0M0) treated with

OBJECTIVE To report a case of a choroidal metastasis from a non-small-cell lung cancer (NSCLC) with an epidermal growth factor receptor (EGFR) mutation, which responded to Osimertinib, a third-generation EGFR-tyrosine kinase inhibitor (TKI). BACKGROUND First- and second-generation EGFR-TKis have

Activating mutations in the HER2 tyrosine kinase have been identified in human breast cancers that lack HER2 gene amplification. These patients are not candidates for HER2-targeted drugs under current standards of care, but preclinical data strongly suggest that these patients will benefit from

BACKGROUND Anaplastic lymphoma kinase tyrosine kinase inhibitors (ALK-TKIs) are usually effective in lung adenocarcinoma patients with anaplastic lymphoma kinase (ALK) rearrangement. However, even after a good response to ALK-TKI therapy, most patients acquire resistance to these agents.

BCR-ABL1-like acute lymphoblastic leukemia (ALL) is a neoplasm of lymphoblasts committed to the B-cell lineage that lack the BCR-ABL1 translocation but show a pattern of gene expression very similar to that seen in ALL with BCR-ABL1 with poor prognosis. A 22-year-old female was diagnosed with