FA-C mutation in children with severe ear anomalies and the early onset of bone marrow failure: Case report

33 aylık kız hasta solukluk ve halsizlik şikayeti ile başvurdu. Fizik muayenede mikrosefali, auricula displazisi, büyüme geriliği, dismorfik görünümü, iskelet anomalileri vardı. Laboratuar incelemesinde trombositopeni ve anemi saptandı. Mitomisinle uyarılmış kromozom kırılma testinde kromozomal insitabilite gösterildi. Gen sekans analizi ile FA-C mutasyonu belirlendi. Klinik ve laboratuar bulgular ile Fankoni anemisi tanısı konuldu FA-A en yaygın görülen komplementasyon grubudur. FA-C komplementasyon grubu nispeten nadir görülür. Bu makalede nadir görülmesi nedeni ile FA-C mutasyonu olan çocuk hastanın fenotipik özelliklerini bildirmeyi amaçladık.A thirty-three months old girl presented with palor and fatigue. On clininal examination she had microcephaly, auricular dysplasia, growth retardation, dysmorphic apperance, and skelatal deformities. Laboratory investigation revealed thrombocytopenia and anemia. Mitomycin induced chromosome breakage was detected showing chromosomal instability. FA-C mutation was identified by gene sequencing analysis. Fanconi anemia (FA) was diagnosed with clinical and laboratory findings. FA-A is the most prevalent complementation group. The FA-C complementation group is observed rarely. In this article, we aimed at reporting the phenotypical features of a pediatric patient with FA-C mutation which is relatively rare

The frequency of hepatotoxicity and myelotoxicity in leukemic children with different high doses of methotrexate

Background and objectives: Methotrexate (MTX) is a chemotherapeutic agent that functions as a folic acid antagonist. The frequency of high dose methotrexate (HDMTX)-associated toxicity is variable. In this study, we investigated the frequency of myelotoxicity and hepatotoxicity 7 days after HDMTX infusion. Patients and methods: This study included children diagnosed with acute lymphoblastic leukemia (ALL) between January 2010 and April 2015. The patient blood counts and biochemical parameters measured before and after 7 days of HDMTX infusion were retrospectively recorded. We assessed HDMTX infusions for 48 children. The number of patients and drug doses included the following: 17 children receiving 1 g/m2 (68 infusions), 14 children receiving 2 g/m2 (56 infusions), and 17 children receiving 5 g/m2 (68 infusions). The classification of toxicity was made based on the Common Terminology Criteria for Adverse Events (CTCAE) 2010 criteria. Myelotoxicity was defined as a hemoglobin level <10 g/L and absolute neutrophil count <1 × 109/L or platelet count <75 × 109/L. The presence of transaminase levels ≥5 times the upper limit was considered to be hepatotoxicity grade ≥3. The MTX levels at 42 h in patients with and without toxicity were compared to evaluate the correlation between MTX levels, hematologic parameters, and transaminase levels. Results: Myelotoxicity was observed in 35.2%, 37.5%, and 33.8% of the infusions, and hepatotoxicity grade ≥3 was detected in 13.2%, 12.5%, and 11.7% of the infusions in patients receiving 1, 2 and 5 g/m2 HDMTX after 7 days, respectively. There was no statistically significant difference between MTX levels at 42 h in patients with and without toxicity (P > .05, for all). There was no correlation between hematologic parameters and transaminase levels and MTX levels at 42 h. Conclusion: Hematologic toxicity was the most common toxicity observed. The data indicate the hematologic toxicity increased after repeated cycles in patients receiving 5 g/m2. However, the hepatic toxicity decreased with additional cycles. Our results show the level of MTX at 42 h is not effective to identify toxicity

Precursor B-cell acute lymphoblastic leukemia presenting with isolated skin relapse: a pediatric case report

Abstract Background In childhood acute lymphocytic leukemia (ALL), relapse is most commonly seen in the bone marrow (10–20%), followed by the central nervous system (3–8%). Isolated skin relapse is very rare in ALL. We report an 8-year-old child presented with isolated skin relapse. Case presentation An eight-year-old female patient presented with swelling on the scalp 3 months after the completion of the ALLIC-BFM 2009 chemotherapy protocol administered due to the diagnosis of precursor B-cell (pre-B) ALL. Physical examination revealed a hard, painless, hyperemic, nodule-shaped lesion measuring 2 × 1 cm on the right parietal bone. Atypical hematopoietic cells with the prominent nucleolus, narrow cytoplasm, and immunohistochemically stained with CD 10, 19, 22, 79-a, and TdT were observed in the histopathological examination of the skin lesion. There was no blast in the bone marrow aspiration smear and cerebrospinal fluid. The patient was diagnosed with aleukemic leukemia cutis (LC) and pre-B ALL, presenting as an isolated relapse. Conclusion Aleukemic LC is a very rare finding after leukemia treatment. It may present with various cutaneous lesions, such as a papule, macule, plaque, nodule, palpable purpura, and ulcerative lesions. Leukemia cutis should be considered in the differential diagnosis of skin lesions developing during or after treatment in children with leukemia

Tandem high-dose chemotherapy followed by autologous stem cell transplantation: An infant with trilateral retinoblastoma

Background: Retinoblastoma (RB) is the most common intraocular malignancy in childhood. Advanced RB, associated with exceedingly poor prognosis, requires more intensive multiagent chemotherapy than conventional regimens. Rescue of the bone marrow after intensive chemotherapy is achieved with stem cell transplantation. The sequential courses (tandem transplantation) of high-dose chemotherapy followed by autologous stem cell transplantation allow for even greater dose intensity in consolidation with the potential to use different active chemotherapeutics at each transplant and have proven feasible and successful in treating children with recurrent/refractory solid tumors. Case Description: We report an infant with trilateral high-risk RB who received tandem high-dose chemotherapy (HDC) followed by autologous stem cell transplantation after the conventional chemotherapy. A 5-month-old female patient presented with strabismus, and the ophthalmoscopic examination showed intraocular tumoral lesions in both eyes. Magnetic resonance imaging (MRI) concluded the trilateral retinoblastoma diagnosis due to a tumoral mass in the optic chiasm. The follow-up ophthalmologic examinations and the MRI detected stable disease after six cycles of multiagent chemotherapy. Conclusions: Rescue with autologous stem cell transplantation after HDC allows for an increase in chemotherapy intensity. Tandem transplantation provides the chance to perform different chemotherapeutics at each transplant and enables an increase in the chemotherapy intensity, thus providing a positive effect on disease-free survival

The effects of N-acetylcysteine on experimentally created L-asparaginase-induced liver and pancreatic damage in rats

In this study, oxidative stress marker (malondialdehyde, MDA) and antioxidant enzymes (glutathione (GSH), catalase (CAT)) levels in the liver and pancreas tissue and the histopathological effects of N-acetylcysteine (NAC) were investigated in L-asparaginase (L-ASP) induced liver and pancreatic damage in rats. Forty male albino rats were divided into four groups. The control group was intraperitoneally injected physiological saline (0.02 mL/g); NAC group was injected NAC (200 mg/kg, five days); L-ASP group was injected single-dose L-ASP (10,000U/kg), and LASP + NAC group was injected NAC for five days following single-dose L-ASP (10,000 U/kg). The surgical operation was performed on all animals on the fifth day. There was no difference between the groups regarding tissue MDA, GSH, and CAT levels (p>.05, for all). In the group receiving NAC after L-ASP, there was a significant improvement in the liver and pancreas damage score than the L-ASP group. NAC was effective in reducing organ damage caused by L-ASP