Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

B-lineage acute lymphoblastic leukemia (B-ALL) is an aggressive neoplasm of B-lymphocyte precursors that express the pan B-cell marker CD19 in all the cases. Rarely, a case may be assigned as B-lineage even if CD19 is negative. Here, a 16-year-old male presented with complaints of pain abdomen, on and off fever, joint pain, and hepatosplenomegaly for 2 months. Bone marrow examination was suggestive of acute leukemia with numerous leukoblasts on aspiration. On flow cytometry, gated blast population was negative for CD19, cytoCD3, and myeloperoxidase MPO and positive for CD34, TdT, HLA-DR, CD22, CD79a, and CD10. Immunohistochemistry study showed positivity for TdT, CD34, CD10 (focal), and PAX 5 and negativity for CD20, CD3, MPO, CD117, and CD68. Lack of awareness of negative CD19 expression in B-ALL can lead to incorrect immunophenotypic diagnosis, treatment, and monitoring of B-ALL. Proper diagnosis should be based on clinical features, immunophenotypic profiles, immunohistochemistry findings, and molecular analysis.
 ...
PMID:CD19-negative B-lineage acute lymphoblastic leukemia: A diagnostic and therapeutic challenge. 2932 85

Arora SK, Swarnim S, Hemal A, Bidhuri N. Acute lymphoblastic leukemia presenting as nephromegaly in a child: A rare case report. Turk J Pediatr 2019; 61: 97-101. Acute leukemia is the commonest pediatric malignancy with acute lymphoblastic leukemia (ALL) constituting about 75% of all leukemias. ALL commonly presents as fever, bleeding, bone pains, anemia, lymphadenopathy and hepatosplenomegaly. The liver, spleen or lymph nodes are the most common sites of extramedullary involvement in ALL, with renal involvement being relatively uncommon. The usual differential diagnosis of acquired massive bilateral nephromegaly in children includes pyelonephritis, obstructive uropathy, infections such as HIV nephropathy, mucormycosis, glycogen storage diseases, myelofibrosis with extramedullary hematopoiesis, kidney tumors and rarely hematological malignancies like ALL. Here we report a 2 years old child who presented with abdominal distention, low grade fever and constipation. Clinical examination revealed massive bilateral nephromegaly. Preliminary investigations showed severe anemia and slightly elevated WBC counts with presence of reactive changes in lymphocytes along with few atypical cells (9%). Abdominal ultrasonography revealed bilaterally enlarged kidneys which was later confirmed by CT abdomen. He was eventually diagnosed with CALLA positive B cell ALL for which treatment was started in accordance with the International network for cancer treatment and research (INCTR) protocol 02 04. At present, he is on maintenance phase and responding well to the treatment with regression of kidney size to normal on follow up ultrasonogram. Thus, leukemia should be considered in a child presenting with bilateral nephromegaly after exclusion of above mentioned differential diagnosis. Bone marrow aspiration must be done before doing a more invasive investigation like renal biopsy.
 ...
PMID:Acute lymphoblastic leukemia presenting as nephromegaly in a child: A rare case report. 3155 28

A 64-year old Chinese male patient was admitted to our hospital because of severe jaundice that persisted for 2 months. No swollen lymph nodes or hepatosplenomegaly was detected on physical examination. His laboratory data indicated high levels of direct bilirubin, alkaline phosphatase, aspartate aminotransferase, and alanine aminotransferase. No abnormality was revealed on abdominal computed tomography (CT). However, positron emission tomography (PET)-CT revealed diffuse hypermetabolism in the liver and spleen. Ultimately, liver biopsy guided by PET-CT was performed, revealing that atypical lymphocytes diffusely infiltrated the liver. The immunohistochemical analysis demonstrated that the tumor cells were positive for CD20, Bcl-2, Bcl-6, MUM1, and c-Myc but negative for CD3, CD4, CD8, and CD10. Based on these findings, this patient was diagnosed with primary hepatosplenic diffuse large B-cell lymphoma. After the definite diagnosis, he received chemotherapy and remained in good health as of September 2019.
 ...
PMID:Jaundice may be the only clinical manifestation of primary hepatosplenic diffuse large B-cell lymphoma: a case report and literature review. 3276 3


<< Previous 1 2 3 4