Search

Since the original description of pathogenic germline DICER1 variation underlying pleuropulmonary blastoma (PPB), the spectrum of extrapulmonary neoplasms known to be associated with DICER1 has continued to expand and now includes tumors of the ovary, thyroid, kidney, eye, and brain among other sites. This report documents our experience with another manifestation: a primitive sarcoma that resembles PPB and DICER1-associated sarcoma of the kidney. These tumors are distinguished by their unusual location in the peritoneal cavity, associated with visceral and/or parietal mesothelium. A total of seven cases were identified through pathology review in children presenting at a median age of 13 years (range 3-14 years). Primary sites of origin included the fallopian tube (four cases), serosal surface of the colon (one case), and pelvic sidewall (two cases). One case had pathologic features of type I PPB, another type Ir (regressed) PPB, and the remaining five had features of type II or III PPB with a mixed primitive sarcomatous pattern with or without cystic elements. All had a pathogenic DICER1 variation identified in germline and/or tumor DNA. PPB-like peritoneal tumors represent a newly described manifestation of DICER1 pathogenic variation whose pathologic features are also recapitulated in DICER1-related renal sarcoma, cervical embryonal rhabdomyosarcoma, and some Sertoli-Leydig cell tumors with heterologous elements. Tumors arising from the fallopian tube or elsewhere in the abdomen/pelvis, especially those with heterogeneous rhabdomyosarcomatous and/or cartilaginous differentiation, should prompt consideration of germline and tumor DICER1 testing.

Radiotherapy for pediatric head and neck tumors often results in mucositis and pain, limiting oral intake and compromising patients' nutrition. There are little pediatric data available regarding enteral tube use and risk factors. Our objective was to estimate nutrition needs, identify risk factors contributing to nutritional decline and explore quality of life measures regarding enteral nutrition during proton radiotherapy.Nutritional metrics and status were collected throughout radiation treatment for 32 patients. We surveyed patients/caregivers about their perceptions of enteral nutrition. Risk factors for progression to non-oral nutrition or5% weight loss were evaluated using univariate analysis.Patients who received any esophageal radiation or30 Gy mean dose to the pharyngeal constrictors were more likely to experience5% weight loss. These patients, as well as those who received a mean dose30 Gy to the oropharynx or concurrent chemotherapy, were also more likely to require non-oral supplementation. Patients expressed the importance of maximizing nutrition and feared pain associated with a tube placement.Pediatric patients with head and neck cancer can be risk-stratified based on clinical and dosimetric factors. This data, combined with parent and patient perceptions, is key to the development of rational guidelines.

Pediatric lung cancer is a very rare occurrence, particularly as a primary lesion. A concurrent diagnosis is even more unusual and only reported a handful of times in Ewing sarcoma. Our patient is a 13-year-old boy who had concurrent diagnoses of Ewing sarcoma and minimally invasive adenocarcinoma of the lung, formerly bronchoalveolar carcinoma. To our knowledge this has also been found in at least 1 other case. There are some classic genetic mutations associated with Ewing sarcoma. None have been found to be linked with the concurrent diagnosis. A biological linkage is worth considering.

Hemophagocytic lymphohistiocytosis (HLH) is not always suspected at the time of presentation. It is often mistaken for other diagnoses; complicated by the fact that it is often associated with an inciting event that has significant overlap. Kawasaki disease, along with other disorders, such as Ebstein Barr Virus infection, are conditions that may lead HLH. Our patient had a presentation that was consistent with Kawasaki disease on initial presentation, however subsequently met the diagnostic criteria of HLH. It provided an interesting discussion about diagnoses with clinical criteria and how the overlap can sometimes delay or complicate initial diagnosis.

Granulomatous lung disease is a rare and perplexing differential in pediatrics. Pulmonary Cryptococcus falls into the differential but is not high on the list, particularly in a non-AIDS patient. Methotrexate (MTX) is a commonly used agent for chemotherapy in oncology and has been documented to cause lung injury in both patients with rheumatologic and oncologic diseases. Our patient had chronic cough and then developed an opportunistic infection resulting in respiratory failure. Lung biopsy showed two underlying unusual diagnoses: MTX lung injury and cryptococcal pneumonia. His case is presented with particular attention to his prolonged road to diagnosis.