0
selected
-
1.
Mutations in NBAS and SCYL1, genetic causes of recurrent liver failure in children: Three case reports and a literature review.
Chavany, J, Cano, A, Roquelaure, B, Bourgeois, P, Boubnova, J, Gaignard, P, Hoebeke, C, Reynaud, R, Rhomer, B, Slama, A, et al
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 2020;(3):155-159
Abstract
Acute liver failure (ALF) in childhood is a life-threatening emergency. ALF is often caused by drug toxicity, autoimmune hepatitis, inherited metabolic diseases, and infections. However, despite thorough investigations, a cause cannot be determined in approximately 50% of cases. Here, we report three cases with recurrent ALF caused by NBAS and SCYL1 pathogenic variants. These patients did not present with any other phenotypic sign usually associated with NBAS and SCYL1 pathogenic variants. Two of them underwent liver transplantation and are healthy without recurrence of ALF. We propose NBAS and SCYL1 genetic analysis in children with unexplained fever-triggered recurrent ALF even without a typical phenotype.
-
2.
Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: a case report and systematic literature review.
Xin, C, Wang, C, Wang, Y, Zhao, J, Wang, L, Li, R, Liu, J
BMC medical genetics. 2018;(1):31
Abstract
BACKGROUND Kabuki syndrome (KS) is a rare pediatric congenital disorder with multiple congenital anomalies and intellectual disabilities, which is inherited in an autosomal dominant manner. Mutations in KMT2D and KDM6A have been proven to be the primary cause in most cases of KS. CASE PRESENTATION Here we report two Chinese boys with clinical features of KS referred to our hospital for clinical diagnosis. Next-generation sequencing was performed on MiSeq to analyze the genetic mutations in both patients. In both, two novel de novo mutations in KMT2D gene (c.5235delA, p.(A1746Lfs*39) and c.7048G > A, p.(Q2350*)) were detected, both of which were subsequently confirmed by the two-generation pedigree analysis based on Sanger sequencing. A systematic literature review of previously reported mutational spectrum of KMT2D was also conducted. CONCLUSIONS Two novel de novo mutations in KMT2D gene were identified and considered to be pathogenic in both of KS patients. Our data adds information to the growing knowledge on the mutational spectrum of KS.
-
3.
Primary cutaneous perivascular epithelioid cell tumor (PEComa): Five new cases and review of the literature.
Stuart, LN, Tipton, RG, DeWall, MR, Parker, DC, Stelton, CD, Morrison, AO, Coleman, LW, Fosko, SW, Vidal, CI, Yadira Hurley, M, et al
Journal of cutaneous pathology. 2017;(8):713-721
Abstract
PEComas represent a family of uncommon mesenchymal tumors composed of "perivascular epithelioid cells" with a distinct immunophenotype that typically shows both myogenic and melanocytic differentiation. The PEComa family includes angiomyolipoma (AML), clear cell "sugar" tumor of the lung and extra pulmonary sites, lymphangioleiomyomatosis and clear cell myomelanocytic tumor of the falciform ligament/ligamentum teres. Very rarely, PEComas may arise in the skin. Primary cutaneous PEComas typically display a dermal proliferation of epithelioid cells with pale, clear, or granular pink cytoplasm arranged in nests and trabecula with an intervening arborizing network of delicate capillaries. Primary cutaneous PEComas have a lower frequency of myogenic marker expression than their deep soft tissue and visceral counterparts. They also often express strong diffuse CD10, leading to potential confusion with metastatic renal cell carcinoma. Most cases behave indolently. We report 5 additional cases of this rare entity. All showed classic histologic features and expression of either HMB-45 and/or Melan-A/MART-1. Four cases were tested for myogenic markers (2 were positive & 2 were negative). Three cases were tested for CD10 (all 3 were positive). All of our cases with clinical follow-up behaved indolently. Table 1 provides a summary of findings for all 5 cases in our series.
-
4.
Hypertension and Life-Threatening Bleeding in Children with Relapsed Acute Myeloblastic Leukemia Treated with FLT3 Inhibitors.
Yılmaz Karapınar, D, Karadaş, N, Önder Siviş, Z, Balkan, C, Kavaklı, K, Aydınok, Y
Turkish journal of haematology : official journal of Turkish Society of Haematology. 2015;(3):263-6
Abstract
Experiences with new multikinase inhibitors are limited, especially in children. In this report we summarize our experience with 2 patients with relapsed acute myeloblastic leukemia (AML), one with FMS-like tyrosine kinase-3-internal tandem duplication mutation and the other with a single base mutation (D835Y). Both patients received sorafenib, one for 19 days and the other for 42 days, with clofarabine-including chemotherapy. One additionally received sunitinib for a total of 20 days. Both patients developed severe pancytopenia, hypertension, life-threatening bleedings from the gastrointestinal system, and, finally, intrapulmonary hemorrhage. Although both reached severe aplasia of the bone marrow without blastic infiltration, death occurred with neutropenic sepsis.
-
5.
Angioimmunoblastic T-cell lymphoma with intramedullary production of platelet-derived growth factor and possibly complicating myelofibrosis: report of a case with review of the literature.
Sekiguchi, Y, Matsuzawa, N, Shimada, A, Imai, H, Wakabayashi, M, Sugimoto, K, Nakamura, N, Sawada, T, Izutsu, K, Takeuchi, K, et al
International journal of hematology. 2013;(2):250-7
Abstract
A 65-year-old man was diagnosed with angioimmunoblastic T-cell lymphoma (AITL) with bone marrow (BM) infiltration and myelofibrosis (MF). The BM infiltration and the condition of the MF improved following CHOP therapy (cyclophosphamide hydrate, doxorubicin hydrochloride, vincristine sulfate, and prednisolone). After complete remission was achieved, early central nervous system recurrence was noted, with no evidence of BM infiltration or MF. The lymph nodes and BM were examined for cytokines by immunohistochemical staining with monoclonal murine antibodies. The lymphoma cells were positive only for platelet-derived growth factor (PDGF) and negative for basic fibroblast growth factor, fibronectin, vascular endothelial growth factor, transforming growth factor-β (TGF-β), tumor necrosis factor α, interleukin-1β, and interleukin-6. It was thus inferred that the lymphoma cells producing PDGF caused the MF, and that the absence of MF at relapse may have been attributable to the absence of BM infiltration. There have been seven reported cases of AITL with intercurrent MF, although cytokine data (elevations of blood PDGF and TGFβ levels) are available for only one case. The present report is to our knowledge the only report of a case of AITL complicated by MF for which the results of immunohistostaining with anticytokine antibodies are available.
-
6.
Malignant epithelioid angiomyolipoma ('sarcoma ex angiomyolipoma') of the kidney: a case report and review of the literature.
Cibas, ES, Goss, GA, Kulke, MH, Demetri, GD, Fletcher, CD
The American journal of surgical pathology. 2001;(1):121-6
Abstract
Malignant epithelioid angiomyolipoma is a recently described rare tumor of the kidney. Its existence has been questioned, however, on the basis of incomplete evidence of malignant behavior, the absence of an associated classic angiomyolipoma component, or the absence of immunoreactivity for HMB-45 in some cases. We describe a case that was HMB-45-positive and arose in association with a classic angiomyolipoma. The patient was treated with a partial nephrectomy. Three years later, she developed rapidly enlarging liver nodules. A fine-needle aspiration of the liver confirmed the presence of pleomorphic epithelioid cells morphologically and immunohistochemically identical to those comprising the primary renal tumor. After two cycles of treatment with doxorubicin, there was a 50% reduction in the size of the tumors with marked improvement in performance status. We believe this case confirms the existence of a malignant epithelioid angiomyolipoma.