Surfactant protein B deficiency: the RespiRare cohort.

Childhood interstitial lung diseases (chILD) are rare and usually severe disorders. Among them, very rare cases of surfactant protein (SP)-B deficiencies have been reported so far and are usually associated with fatal forms of chILD. The RespiRare network allows the collection of precise phenotypic and genotypic information.

Lung biopsies in infants and children in critical care situation.

Introduction: Lung biopsy is considered as the last step investigation for diagnosing lung diseases; however, its indication must be carefully balanced with its invasiveness. The present study aims to evaluate the diagnostic yield of lung biopsy in critically ill patients hospitalized in the pediatric intensive care unit (ICU).

Material And Methods: Children who underwent a lung biopsy in the ICU between 1995 and 2022 were included.

Acinar Dysplasia in a Full-Term Newborn with a NKX2.1 Variant.

Acinar dysplasia (AcDys) is one of the three main diffuse developmental disorders of the lung. The transcription factor NK2 homeobox 1 (NKX2.1) partly controls the synthesis of surfactant proteins by type 2 alveolar epithelial cells (AEC2), and germline mutations are known to be associated with brain-lung thyroid syndrome.

The significance of multidisciplinary team meetings in diagnosing and managing childhood interstitial lung disease within the RespiRare network.

Introduction: Childhood Interstitial Lung Disease (chILD) represents a rare and severe group of diseases for which the etiologic workup, classification, and management remain a challenge for most pediatric pulmonologists. In France in 2018, the RespiRare network established the first multidisciplinary team meetings (MDTm) dedicated to chILD. This study aims to investigate the impact of MDTm in chILD diagnosis and management as well as user satisfaction.

Number of lymph nodes sampled in SFCE/SIOP 2001 patients with Wilms tumour: Is the goal of more than six achievable?

Aim: The number of lymph nodes (LN) that should be sampled during nephrectomy for Wilms tumour (WT) remains controversial but of utmost importance for staging purposes. The aim of this French national retrospective study of patients enrolled in SIOPWT2001 trial was to analyse the number of LN sampled according to their site and to determine if the number of six asked by the International Society of Paediatric Oncology - Renal Tumour Study Group (SIOP-RTSG) UMBRELLA protocol is achievable.

Methods: We reviewed the data collected on central pathology review forms from 2002 to 2014 for only unilateral WT.

AGAP3: A novel BRAF fusion partner in pediatric pancreatic-type acinar cell carcinoma.

Most available molecular data on pancreatic acinar cell carcinoma (PACC) are provided by studies of adult cases. BRAF, RAF1, or RET rearrangements have been described in approximately 30% of cases. To the best of our knowledge, only seven cases with molecular data have been reported in pediatric PACC.

Genotype-Phenotype Relationships in Inheritable Idiopathic Pulmonary Fibrosis: A Greek National Cohort Study.

Background: Monogenic and polygenic inheritances are evidenced for idiopathic pulmonary fibrosis (IPF). Pathogenic variations in surfactant protein-related genes, telomere-related genes (TRGs), and a single-nucleotide polymorphism in the promoter of MUC5B gene encoding mucin 5B (rs35705950 T risk allele) are reported. This French-Greek collaborative study, Gen-Phen-Re-GreekS in inheritable IPF (iIPF), aimed to investigate genetic components and patients' characteristics in the Greek national IPF cohort with suspected heritability.

High-dose chemotherapy followed by autologous stem cell rescue in Wilms tumors: French report on toxicity and efficacy.

Background: Heterogeneous data have been reported on high-dose chemotherapy (HDCT) with autologous stem cell rescue (ASCR) in Wilms tumors (WTs). We aimed to define its safety and efficacy in the French cohort, and to compare this management to current international recommendations.

Methods: Data prospectively collected from children, adolescents, and young adults with WT treated with HDCT/ASCR between 2000 and 2016 in French centers were retrospectively analyzed.

Characteristics and outcome of pediatric renal cell carcinoma patients registered in the International Society of Pediatric Oncology (SIOP) 93-01, 2001 and UK-IMPORT database: A report of the SIOP-Renal Tumor Study Group.

In children, renal cell carcinoma (RCC) is rare. This study is the first report of pediatric patients with RCC registered by the International Society of Pediatric Oncology-Renal Tumor Study Group (SIOP-RTSG). Pediatric patients with histologically confirmed RCC, registered in SIOP 93-01, 2001 and UK-IMPORT databases, were included.

Standard of care for adult Wilms tumor? From adult urologist to pediatric oncologist. A retrospective review.

Nephroblastoma or Wilms tumor, a common embryonal tumor in children, can occasionally occur in adults. The survival of patients older than 18 years is reported to be significantly inferior to that of pediatric patients. Establishing a diagnosis for these rare tumors can be challenging for both clinicians and pathologists, who are not accustomed to considering Wilms tumor as a potential differential in adults.

Functional assessment and phenotypic heterogeneity of and mutations in interstitial lung diseases and lung cancer.

Introduction: Interstitial lung diseases (ILDs) can be caused by mutations in the and genes, which encode the surfactant protein (SP) complex SP-A. Only 11 or mutations have so far been reported worldwide, of which five have been functionally assessed. In the framework of ILD molecular diagnosis, we identified 14 independent patients with pathogenic or mutations.

Evaluation of the nephron-sparing surgery formula in Wilms tumors.

Aim: Definitions of nephron-sparing surgery (NSS) procedures in Wilms tumor (WT) are not clear. The new UMBRELLA protocol offers a formula (NSS(X)-SRM(n)-PRM(n)-RRP(n%)) to better define the different NSS parameters. We aimed to assess the advantages and limits of this new formula.

Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling.

Heterozygous missense mutations in coatomer protein subunit α, COPA, cause a syndrome overlapping clinically with type I IFN-mediated disease due to gain-of-function in STING, a key adaptor of IFN signaling. Recently, increased levels of IFN-stimulated genes (ISGs) were described in COPA syndrome. However, the link between COPA mutations and IFN signaling is unknown.

PTPN11 mutations in canine and human disseminated histiocytic sarcoma.

In humans, histiocytic sarcoma (HS) is an aggressive cancer involving histiocytes. Its rarity and heterogeneity explain that treatment remains a challenge. Sharing high clinical and histopathological similarities with human HS, the canine HS is conversely frequent in specific breeds and thus constitutes a unique spontaneous model for human HS to decipher the genetic bases and to explore therapeutic options.

Liver metastasis at diagnosis in children with nephroblastoma enrolled in SIOP2001 protocol: A French multicentric study.

Background: Liver metastases are rare in children with Wilms tumor (WT), and their impact on the outcome is unclear.

Patients And Methods: The French cohort of patients with WT presenting liver metastases at diagnosis and enrolled in the International Society of Pediatric Oncology (SIOP) 2001 study was reviewed.

Results: From 2002 to 2012, 906 French patients were enrolled in the SIOP2001 trial.

Outcome of patients with stage IV high-risk Wilms tumour treated according to the SIOP2001 protocol: A report of the SIOP Renal Tumour Study Group.

Introduction: High-risk (HR) metastatic (stage IV) Wilms tumours (WTs) have a particular poor outcome.

Methods: Here, we report the results of HR (diffuse anaplastic [DA] or blastemal type [BT]) stage IV WT treated patients according to the HR arm in the SIOP2001 prospective study.

Results: From January 2002 to August 2014, 3559 patients with WT were included in the SIOP2001 trial.

Chronic Intestinal Pseudo-Obstruction and Lymphoproliferative Syndrome as a Novel Phenotype Associated With Tetratricopeptide Repeat Domain 7A Deficiency.

Mutations in the tetratricopeptide repeat domain 7A (TTC7A) gene cause very early onset inflammatory bowel diseases (VOIBD) or multiple intestinal atresia associated with immune deficiency of various severities, ranging from combined immune deficiency to mild lymphopenia. In this manuscript, we report the clinical, biological and molecular features of a patient born from consanguineous parents, presenting with recurrent lymphoproliferative syndrome and pan-hypergammaglobulinemia associated with chronic intestinal pseudo obstruction (CIPO). Genetic screening revealed the novel c.

A Spontaneously Necrotic Wilms' Tumor Mimicking Renal Abscess: A Tricky Diagnosis not to Miss.

Wilms' tumor (WT) is the most common renal malignancy in children. Its clinical and radiologic presentation may mimic other pediatric renal diseases, including pyonephrosis or renal abscess. The authors report a case of a 3-year-old girl presenting with pyelonephritis and right renal mass suggestive of a renal abscess, not responding to antibiotics.

Is radiotherapy required in first-line treatment of stage I diffuse anaplastic Wilms tumor? A report of SIOP-RTSG, AIEOP, JWiTS, and UKCCSG.

Background: As a significant proportion of relapses occurred in the tumor bed or abdomen on patients with the fifth National Wilms Tumor Study stage I anaplastic Wilms tumor (WT), flank radiotherapy was added for stage I anaplastic WT in the subsequent study of the Children's Oncology Group (AREN0321). Preliminary results revealed reduction of relapse rate and improved survival. In cases treated with preoperative chemotherapy, such as in International Society of Pediatric Oncology (SIOP), the value of radiotherapy has never been studied.

Pulmonary giant chondromatous hamartoma with multifocal evolution in an infant.

Hamartoma is the most common benign pulmonary tumor in adults, but is rarely described in the pediatric population. Giant chondromatous and progressive forms are even rarer. We report the novel case of a 13-month-old infant hospitalized for giant pulmonary chondromatous hamartoma discovered during a septic episode, rapidly progressive, with severe multifocal lesions, without clear response to several cytotoxic therapies.

Pulmonary Fibrosis in Children.

Pulmonary fibrosis (PF) is a very rare condition in children, which may be observed in specific forms of interstitial lung disease. None of the clinical, radiological, or histological descriptions used for PF diagnosis in adult patients, especially in situations of idiopathic PF, can apply to pediatric situations. This observation supports the view that PF expression may differ with age and, most likely, may cover distinct entities.

Bi-allelic missense mutations in a patient with childhood ILD who reached adulthood.

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