Therapy-related myeloid leukemia following Pleuropulmonary blastoma: A case report

The development of secondary malignancy (SM) is the most worrisome long-term complication of childhood cancer. Acute myeloid leukemia is the most prevalent neoplasm that occurs after treatment with alkylating agents and topoisomerase II inhibitors. Pleuropulmonary blastoma (PPB) is a rare lung neoplasm in children. Type II and type III of this cancer are markedly aggressive and have a recurrent nature. Chemotherapy, radiation therapy, and hematopoietic stem cell transplant (HSCT) are treatment modalities that make these patients prone to secondary malignancy. Here was presented and discussed a case of myeloid leukemia 3.5 years after treatment of Pleuropulmonary blastoma in a 5.5-year-old boy who was a candidate for high dose chemotherapy and autologous stem cells transplant (auto-SCT) because of frequent recurrence and lack of response to chemotherapy and radiation therapy. It seems this is the first reported case of therapy-related myeloid leukemia (t-AML) after PPB in children. Awareness of the creation of this complication following administration of cytotoxic therapies in the treatment of solid tumors will increase physician attention in the selection of treatment modality as well as the counseling of patients at the time of diagnosis.

Case Report: Pleuropulmonary Blastoma in a 2.5-Year-Old Boy: 18F-FDG PET/CT Findings

Pleuropulmonary blastoma (PPB) is a rare invasive primary malignancy in the thoracic cavity that occurs mainly in infants and children. It is often misdiagnosed and not treated correctly and promptly due to the lack of specificity of clinical symptoms and conventional imaging presentations. We report a 2.5-year-old boy who underwent X-ray chest radiography, chest CT, and 18F-FDG PET/CT. PET/CT images demonstrated a sizeable cystic-solid mass with heterogeneous increased glucose metabolism in the left thoracic cavity. The diagnosis of PPB (type II) was finally confirmed by a CT-guided puncture biopsy of the active tumor tissue. This case highlights the critical role of 18F-FDG PET/CT in the diagnosis of PPB in children.

Clinical case of pulmonary blastoma in a child as a disguise of community-acquired pneumonia

Currently, the problem of diagnosing pleuropulmonary blastoma in children remains relevant, because this pathology often runs under the guise of other nosologies, including pneumonia, and is extremely difficult to diagnose. Currently there are no pathognomonic clinical symptoms, specific diagnostic criteria for this disease, almost 60% of patients have nonspecific symptoms. This article presents a rare clinical case of biphasic pulmonary blastoma in a child who was examined and treated at the Ivano-Frankivsk Regional Children's Clinikal Hospital Ivano-Frankivsk Regional Council. The main clinical manifestations, diagnosis and treatment of biphasic blastoma of the lungs in a child based on the observation of a 5-year-old girl who was hospitalized for acute abdominal pain, chest pain and cough. After clinical — laboratory and instrumental methods of examination, right-sided pneumonia and exudative pleurisy were diagnosed. The set of treatment measures did not give the expected positive effect, improving the patient's condition. Additional testing is required for suspected breast cancer. It has been established that the best method for verifying the diagnosis of pulmonary blastoma is multislice computed tomography with intravenous bolus contrast and immunohistochemical examination of the biopsy. The methods of treatment used in this case, including anti-inflammatory and polychemotherapy according to the scheme, the use of radical treatment at the National Cancer Institute in Kyiv — surgery right pneumonectomy with pericardial resection. The child is currently in stable remission for 4.5 years. The described clinical case demonstrates the difficulty of diagnosing lung blastoma in children due to the lack of typical clinical manifestations. The research was carried out in accordance with the principles of the Helsinki declaration. The informed consent of the patient was obtained for conducting the studies. No conflict of interest was declared by the authors. Key words: children, pneumonia, blastoma, pulmonology, diagnosis, treatment.

Clinical heterogeneity and reduced penetrance in DICER1 syndrome: a report of three families

Introduction: DICER1 syndrome is characterized by increased susceptibility to malignancies, mostly occurring in childhood. The range of phenotypic effects of DICER1 variants is under investigation, and the syndrome’s phenotypic spectrum is steadily widening. We report on three Italian families showing heterogeneous clinical presentation and reduced penetrance in family members. Case descriptions: Patient 1 is a 10-year-old girl with a Sertoli-Leydig cell tumor. Although family history was unremarkable, genetic testing identified a DICER1 germline variant, inherited from her healthy father. Benign thyroid nodules were subsequently diagnosed in both the proband and her father. Patient 2 is an 8-month-old boy with type 1 pleuropulmonary blastoma. His sister developed a nephroblastoma at age 2 years. A DICER1 novel variant was identified in both siblings and their healthy father. Patient 3 is a 22-year-old man who developed a spinal extramedullary intradural mass diagnosed as rhabdomyosarcoma with a peculiar tubular, gland-like component. Tumor testing revealed two pathogenic DICER1 variants, one of which was confirmed to be germline and identified in his 17-year-old healthy brother and in his father, who showed multiple thyroid nodules. Conclusions: Among our patients, three developed tumors most frequently associated with DICER1 syndrome (i.e. pleuropulmonary blastoma, nephroblastoma, and Sertoli-Leydig cell tumor). One developed a peculiar sarcoma of the spinal cord not previously described in DICER1 syndrome. Genetic testing in relatives highlighted the paternal origin and reduced penetrance in all families, with thyroid benign lesions as the most common features in otherwise unaffected individuals.

Pleuropulmonary Blastoma (PPB) in Child with DICER1 Mutation: The First Case Report in the State of Qatar

Pleuropulmonary blastoma (PPB) is a rare intrathoracic malignancy, which arises from the lung parenchyma and/or pleura. PPB has strong genetic association with mutations in DICER1 gene. Despite being rare, PPB is the most common lung tumor in children below 6 years of age. International registry of the disease has a total of 350 cases worldwide. We report the first case of PPB in the state of Qatar, which presented as a large cystic lung lesion. The patient was first thought to have benign congenital pulmonary airway malformation (CPAM) based on chest X-ray findings. The diagnosis of PPB was suspected based on chest CT scan findings and was confirmed after surgical resection of the cystic mass. The case highlights the need to consider PPB in the differential diagnosis of cystic lung lesions in children and the need for further radiological imaging (i.e., CT scan), genetic testing, and/or excisional biopsy to confirm the diagnosis.