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Multiple Osteolytic Lesions Causing Hypercalcemia: A Rare Presentation of Acute Lymphoblastic Leukemia.

ABSTRACT: Acute lymphoblastic leukemia is characterized by unchecked proliferation of malignant lymphoblasts which replaces the normal bone marrow culminating in anemia due to red blood cells inadequacy as well as in easy bruising/bleeding secondary to insufficient platelets production. Even the white blood cells which are produced excessively are immature and abnormal. ALL is the most common hematological malignancy in children. Most commonly, patients present with lymphadenopathy, recurrent infections, bleeding, fatigue, and bone pains. Bone pains, often particularly involving long bones, occur in about 21-38% of cases and are due to overcrowding of bone marrow with malignant cells. Vast majority of children with ALL have thrombocytopenia and/or anemia with a normal or mildly elevated white blood cells count with the presence of lymphoblasts on peripheral smear. About 50% of children present with bleeding while about 75% of patients have platelet count 100,000/microL. Visceromegaly is not uncommon but osteolytic lesions and hypercalcemia are rather uncommon. We present a 22-year-old gentleman with generalized fatigue and bone pains without visceromegaly. There was severe hypercalcemia with normal parathyroid levels but multiple osteolytic lesions. Peripheral smear showed anemia without blasts, whereas a bone marrow biopsy revealed > 30% blasts with interspersed CD 10 positive cells.

SUBMITTER: Mahmood K

PROVIDER: S-EPMC5536143 | biostudies-other | 2017

REPOSITORIES: biostudies-other

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Project description:BackgroundPhiladelphia chromosome-like acute lymphoblastic leukemia (Ph-like ALL) is characterized by a gene-expression profile similar to that of BCR-ABL1-positive ALL, alterations of lymphoid transcription factor genes, and a poor outcome. The frequency and spectrum of genetic alterations in Ph-like ALL and its responsiveness to tyrosine kinase inhibition are undefined, especially in adolescents and adults.MethodsWe performed genomic profiling of 1725 patients with precursor B-cell ALL and detailed genomic analysis of 154 patients with Ph-like ALL. We examined the functional effects of fusion proteins and the efficacy of tyrosine kinase inhibitors in mouse pre-B cells and xenografts of human Ph-like ALL.ResultsPh-like ALL increased in frequency from 10% among children with standard-risk ALL to 27% among young adults with ALL and was associated with a poor outcome. Kinase-activating alterations were identified in 91% of patients with Ph-like ALL; rearrangements involving ABL1, ABL2, CRLF2, CSF1R, EPOR, JAK2, NTRK3, PDGFRB, PTK2B, TSLP, or TYK2 and sequence mutations involving FLT3, IL7R, or SH2B3 were most common. Expression of ABL1, ABL2, CSF1R, JAK2, and PDGFRB fusions resulted in cytokine-independent proliferation and activation of phosphorylated STAT5. Cell lines and human leukemic cells expressing ABL1, ABL2, CSF1R, and PDGFRB fusions were sensitive in vitro to dasatinib, EPOR and JAK2 rearrangements were sensitive to ruxolitinib, and the ETV6-NTRK3 fusion was sensitive to crizotinib.ConclusionsPh-like ALL was found to be characterized by a range of genomic alterations that activate a limited number of signaling pathways, all of which may be amenable to inhibition with approved tyrosine kinase inhibitors. Trials identifying Ph-like ALL are needed to assess whether adding tyrosine kinase inhibitors to current therapy will improve the survival of patients with this type of leukemia. (Funded by the American Lebanese Syrian Associated Charities and others.).

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Multiple Osteolytic Lesions Causing Hypercalcemia: A Rare Presentation of Acute Lymphoblastic Leukemia.

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