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Introduction: Fanconi anemia (FA) is a genome instability condition that drives somatic mosaicism in up to 25% of all patients, a phenomenon now acknowledged as a good prognostic factor. Herein, we describe the case of P1, a FA proband carrying a splicing variant, molecularly compensated by a de novo insertion. Methods and Results: Targeted next-generation sequencing on P1's peripheral blood DNA detected the known FANCA c.2778 + 83C > G intronic mutation and suggested the presence of a large deletion on the other allele, which was then assessed by MLPA and RT-PCR. To determine the c.2778 + 83C > G splicing effect, we performed a RT-PCR on P1's lymphoblastoid cell line (LCL) and on the LCL of another patient (P2) carrying the same variant. Although we confirmed the expected alternative spliced form with a partial intronic retention in P2, we detected no aberrant products in P1's sample. Sequencing of P1's LCL DNA allowed identification of the de novo c.2778 + 86insT variant, predicted to compensate 2778 + 83C > G impact. Albeit not found in P1's bone marrow (BM) DNA, c.2778 + 86insT was detected in a second P1's LCL established afterward, suggesting its occurrence at a low level in vivo . Minigene assay recapitulated the c.2778 + 83C > G effect on splicing and the compensatory role of c.2778 + 86insT in re-establishing the physiological mechanism. Accordingly, P1's LCL under mitomycin C selection preserved the FA pathway activity in terms of FANCD2 monoubiquitination and cell survival. Discussion: Our findings prove the role of c.2778 + 86insT as a second-site variant capable of rescuing c.2778 + 83C > G pathogenicity in vitro , which might contribute to a slow hematopoietic deterioration and a mild hematologic evolution., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Persico, Fontana, Faleschini, Zanchetta, Ammeti, Cappelli, Corsolini, Mosa, Guarina, Bogliolo, Surrallés, Dufour, Farruggia, Savoia and Bottega.)

Background: Primary breast lymphoma (PBL) is an extremely rare neoplasm in children; by definition, it manifests in the breast without evidence of lymphoma elsewhere, except ipsilateral axillary nodes., Case Presentation: We report a case of a 15-year-old girl diagnosed with diffuse large B-cell lymphoma (DLBCL) of the right breast: the patient received chemotherapy and rituximab, achieving complete remission. A literature review revealed other 11 cases of pediatric PBL; it mainly affects female adolescents and can involve right and left breast equally. Different histologic subtypes have been described, arising from both B-cell and T-cell. Therapeutic approaches were very different, from chemotherapy to local treatment with surgery and/or radiotherapy., Conclusions: Our case is the first in which rituximab was administered, suggesting to be a promising therapy in B-cell PBL, as already demonstrated in pediatric B-cell lymphoma from other sites. Further investigations are needed to identify prognostic factors and establish the most effective treatment., (© 2021. The Author(s).)

Rasburicase is a recombinant urate oxidase enzyme indicated for tumor lysis syndrome, a potential life-threatening oncologic emergency that occurs most commonly during initial chemotherapy for hematological malignancies. As a result of the defects in the physiological antioxidant pathway, erythrocytes of patients with glucose-6-phosphate dehydrogenase deficiency are not protected against the oxidizing stress exerted by hydrogen peroxide generated with the administration of rasburicase. The authors report a 14-year-old patient, diagnosed with T-cell acute lymphoblastic leukemia, who developed methemoglobinemia and hemolytic anemia with low oxygen saturation after starting steroids, hyperhydratation, and rasburicase administration. The complications resolved with supportive therapy only., Competing Interests: The authors declare no conflict of interest., (Copyright © 2020 Wolters Kluwer Health, Inc. All rights reserved.)

Background: Children with Wilms' tumor (WT) aged under 24 months (infants) have a better prognosis than older patients. Our aim was to study the epidemiology of this age group, with focus on the modality of diagnosis, tumor size, and association with malformations/syndromes, seeking to understand if any of these factors might be related to prognosis., Patients and Methods: Infants diagnosed with WT between 2003 and February 2010 were evaluated. A query form was used to collect data on the modality of WT diagnosis (symptomatic or incidental), tumor volume, maximum diameter, site, and stage., Results: Data were collected for 117 of 124 WT infants registered. Twenty-four cases had an incidental diagnosis (ID) of renal mass, usually arising from an abdominal ultrasound performed for other reasons, and 93 had been diagnosed based on clinical signs/symptoms. The incidental cohort displayed unifocal disease, mean tumor diameter 5.52 cm, mean tumor volume 84.30 ml, and 14 patients showed associated malformations. Symptomatic patients had mean maximum tumor diameter of 10.18 cm, mean tumor volume of 451.18 ml, and six had associated malformations., Conclusions: Our study showed that 20% of the infants had an ID of WT; they had a relatively smaller nonmetastatic tumor and a higher rate of malformations than infants of the symptomatically diagnosed group, but we did not detect any difference in age at diagnosis between the two groups. Conversely, we found a significant difference in the 5-year event-free survival rate (P = 0.018) between infants under 1 year (96%), more frequently associated with congenital malformations, and infants 1-2 years (80%)., (© 2017 Wiley Periodicals, Inc.)

Large vessel thrombosis is a very rare clinical presentation of acute leukemia, generally associated with coagulopathy, usually characteristic of acute promyelocytic leukemia. A 13- year-old boy with a previously undiagnosed acute myeloid leukemia was referred to our hospital with acute ischemia of the right lower limb due to occlusion of the right external iliac artery, treated with emergency double surgical thromboembolectomy and chemotherapy. The thrombotic complication resulted in leg amputation. Now the boy is well in complete remission, with a good social integration and quality of life, 30 months after completing treatment. The report highlights the crucial role of early diagnosis and subsequent chemotherapy in avoiding amputation. We particularly focused critical and emotional aspects related to the communication about the leg amputation with the patient and his family., Competing Interests: the authors declare no conflict of interest.

The purpose of the study was to determine if abdomen/pelvis computed tomography (CT) can be safety omitted in the initial staging of a subgroup of children affected by Hodgkin Lymphoma (HL). Every participating center of A.I.E.O.P (Associazione Italiana di Ematologia ed Oncologia Pediatrica) sent local staging reports of 18F-fluorodeoxyglucose positron emission tomography (PET) and abdominal ultrasound (US) along with digital images of staging abdomen/pelvis CT to the investigation center where the CT scans were evaluated by an experienced pediatric radiologist. The local radiologist who performed the US was unaware of local CT and PET reports (both carried out after US), and the reviewer radiologist examining the CT images was unaware of local US, PET and CT reports. A new abdominal staging of 123 patients performed on the basis of local US report, local PET report, and centralized CT report was then compared to a simpler staging based on local US and PET. No additional lesion was discovered by CT in patients with abdomen/pelvis negativity in both US and PET or isolated spleen positivity in US (or US and PET), and so it seems that in the initial staging, abdomen/pelvis CT can be safety omitted in about 1/2 to 2/3 of children diagnosed with HL., (© 2016 The Authors. Cancer Medicine published by John Wiley & Sons Ltd.)

Genital warts caused by human papillomavirus (HPV) are the most frequent sexually transmitted infection. We describe a case of severe perianal and genital HPV infection in a patient with acquired aplastic anemia, unresponsive to traditional therapies and treated effectively with a combination of interferon and ribavirin., (Copyright © 2014 The Authors. Published by Elsevier Ltd.. All rights reserved.)

Poikiloderma with neutropenia (PN, OMIM 604173) is a rare autosomal-recessive genodermatosis. Mutations in the C16orf57 gene have been recently identified as the cause. Here we describe a new case of PN in a white patient, review the literature, and point out the attention on importance of differential diagnosis.

Aim: Aim of the study was to recognise the role of psychological disagreement in children and adolescents suffering from functional pain., Methods: Two groups of children, adolescents and their parents were interviewed: group H (hospitalized patients), group S (students, at school). Suitable investigations excluded organic lesions. The following data were analysed: 1) presence of pain in relation with: i) sex and age; ii) relation with parents, brothers, other relatives, schoolfellows; 2) efficacy of possible treatments., Results: Group H: 194 patients, median age 10 years; 134 referred pain: 62 out of 92 males and 72 out of 102 females; location of pain: abdomen, limbs, head, back. Family disagreements: 36, functional pain 32; schoolfellows disagreements 114, functional pain 79. Correlations of pain with sex, increasing age, family and schoolfellows disagreements: non statistically significant. Group S: 246 students, median age: 13 years; 188 referred pain: 78 out of 118 males and 110 out of 128 females; pain was statistically more frequent in females, it increased with age. Location of pain: limbs, abdomen, head, back. Family disagreements: 31, functional pain 28, schoolfellows disagreements 140, functional pain 114. Correlations of pain with family and schoolfellows disagreements: non-statistically significant. Several parents gave answers which were different from their children's. Pharmacological and dietary interventions failed to obtain regression of pain., Conclusion: In both groups, the referred disagreements were not statistically different among children with functional pain and those without pain; such psychological distress was not the only factor causing functional pain. The empiric treatment adopted was inefficacious.