Successful Treatment of Genetically Profiled Pediatric Extranodal NK/T-Cell Lymphoma Targeting Oncogenic STAT3 Mutation.

Extranodal natural killer (NK)/T-cell lymphoma (ENKTCL) is a distinct type of non-Hodgkin lymphoma predominantly observed in Asian and Latin American adult males. A 12-year-old Hispanic female diagnosed with ENKTCL was enrolled in our genomic profiling research protocol. We identified specific somatic alterations consistent with diagnosis of ENKTCL as well as oncogenic mutations in MAP2K1 and STAT3. To our knowledge, this is the first report of an immunophenotypically confirmed and genetically profiled case of ENKTCL in a female pediatric patient in the United States, including its unique treatment and favorable outcome.

Prolonged remission of recurrent cervical carcinoma following paclitaxel and carboplatin chemotherapy with paclitaxel maintenance chemotherapy.

Cervical cancer recurs in ~30% of cases, for which a favorable prognosis is often unattainable. We describe a cervical cancer patient who developed metastatic disease ~5 years after her initial diagnosis. She was subsequently treated with six cycles of paclitaxel (175 mg/m) and carboplatin area under the curve (AUC) 5 chemotherapy every 21 days, and paclitaxel (135 mg/m) maintenance therapy every 21 days; the patient has remained in clinical remission after more than 5 years of follow-up. Chemotherapy has not historically been effective in managing recurrent, persistent, or metastatic cervical cancer. However, our case study involving paclitaxel and carboplatin chemotherapy with maintenance chemotherapy represents one of the longest documented remission rates in association with the management of recurrent cervical cancer.

Histopathology imaging and clinical data including remission status in pediatric inflammatory bowel disease.

The incidence of inflammatory bowel disease (IBD) is increasing annually. Children with IBD often suffer significant morbidity due to physical and emotional effects of the disease and treatment. Corticosteroids, often a component of therapy, carry undesirable side effects with long term use. Steroid-free remission has become a standard for care-quality improvement. Anticipating therapeutic outcomes is difficult, with treatments often leveraged in a trial-and-error fashion. Artificial intelligence (AI) has demonstrated success in medical imaging classification tasks. Predicting patients who will attain remission will help inform treatment decisions. The provided dataset comprises 951 tissue section scans (167 whole-slides) obtained from 18 pediatric IBD patients. Patient level structured data include IBD diagnosis, 12- and 52-week steroid use and name, and remission status. Each slide is labelled with biopsy site and normal or abnormal classification per the surgical pathology report. Each tissue section scan from an abnormal slide is further classified by an experienced pathologist. Researchers utilizing this dataset may select from the provided outcomes or add labels and annotations from their own institutions.

Pigmented pyogenic granuloma of the cornea and conjunctiva: a rare bilateral presentation.

Pyogenic granuloma, also known as lobular capillary hemangioma, is a benign vascular lesion that primarily affects the skin and mucous membranes. It is not pyogenic; nor is it granulomatous. It typically arises in response to local trauma or surgery, irritation, hormonal changes, or chronic inflammation, and it sometimes occurs spontaneously. The occurrence of pigmented pyogenic granuloma in the conjunctiva and cornea without any history of trauma or surgery is extremely rare, particularly in children. We report the clinical presentation, diagnostic evaluation, and successful management of bilateral biopsy-proven conjunctival and corneal pigmented isolated pyogenic granuloma in an 11-year-old girl. No signs of recurrence were seen at the 3-months follow-up.

Inflammatory polyps following successful HLA-matched cord blood transplantation in a patient with X-linked lymphoproliferative syndrome.

Gastrointestinal complications following HSCT are numerous and include a variety of issues resulting in hepatic, biliary, pancreatic, and intestinal compromise. In the context of an underlying state of immune dysregulation, novel complications may arise including autoimmunity. To our knowledge, this is the first report of a patient with XLP who was successfully treated with HSCT using an HLA-matched unrelated cord blood unit that was complicated by the development of inflammatory polyps of the colon. Given the underlying diagnosis of XLP and its associated immune dysregulation, the challenge of understanding unique gastrointestinal manifestations of autoimmunity following HSCT is discussed.

Case Report: Pseudomonas can take a toll on a patient.

Pseudomonas aeruginosa ( P. aeruginosa) is an aerobic Gram-negative bacterium that is implicated in the development of severe systemic infections among pediatric patients.  It is identified in hospitalized chronically ill pediatric patients in association with genitourinary, respiratory tract, and skin or soft tissue infections as well as severe and life-threating infection including sepsis.  A variety of immunologic mechanisms play a vital role in the host defense mechanisms against invasive infections with P. aeruginosa. Rarely, specific inborn errors of immune function are implicated in deficiencies that predispose to invasive infections with P. aeruginosa.  Innate immune function including germ-line encoded pattern recognition receptors such as toll-like receptors (TLRs) and their downstream signaling is vital in the host defense against P. aeruginosa through the generation of antimicrobial peptides, cytokines/chemokines, and shaping of adaptive immune responses. Herein, we describe a previously healthy two-year-old female with an invasive skin, soft tissue, and central nervous system infection secondary to P. aeruginosa.  The invasive nature of this infection prompted a careful evaluation for an inborn error of immunity. Decreased cytokine response to agonists of TLRs was documented. Targeted sequencing of interleukin-1 receptor-associated kinase (IRAK)-4 documented a homozygous deletion of exons 8-13 consistent with IRAK-4 deficiency.  This report provides a vital educative message in the existing scientific literature by underscoring the importance of considering inborn errors of immunity in all patients with severe P. aeruginosa infections.  Functional assessments of immune function often in combination with sequencing can accurately assign a diagnosis in a timely fashion allowing for definitive treatment and the use of necessary supportive care.

A Liver Transplant for Local Control in a Pediatric Patient with Metastatic TFE3-Associated Perivascular Epithelioid Cell Tumor (PEComa) to the Liver.

Perivascular epithelioid cell tumors (PEComas) are rare mesenchymal tumors with widespread distribution throughout the body and unpredictable clinical behavior. Recently, a subset of these tumors has been reported to harbor Transcription Factor E3 (TFE3) gene rearrangement with distinct morphologic and immunophenotypic features. Although limited, these tumors may represent a separate entity from the conventional PEComas and may require different treatment approaches. Surgery is the main treatment option with no clear consensus on systemic therapy. Here, we present the first case of a malignant pediatric colonic TFE3-associated PEComa with isolated liver metastasis leading to liver transplantation for the local control.

Weight of normal parathyroid glands in patients with parathyroid adenomas.

Although the size and weight of a parathyroid gland are frequently the only intraoperative determinants of abnormality, these parameters have not been examined in living patients with primary hyperparathyroidism (PHP). The records of 240 patients who underwent parathyroidectomy according to standard surgical practice by a single surgeon were reviewed to identify those who were euparathyroid after in toto removal of a histologically confirmed normal gland and a histologically confirmed adenoma. The 25 (86%) females and 4 (14%) males who met the study criteria had a mean age of 60 yr (range, 33-82 yr). The mean PTH level was 130.1 pg/ml (range, 58-278) before parathyroidectomy and 32.4 pg/ml (range, 1-68) after parathyroidectomy. The mean calcium level was 11.1 mg/dl (range, 10-14) before and 8.7 mg/dl (range, 8-10) after parathyroidectomy. Thirty-four intact normal glands were removed and available for analysis. Their mean weight was 62.4 +/- 31.6 mg (range, 18-161 mg), and 15 (44%) weighed 60 mg or more. The mean weight of the adenomas was 553.7 +/- 520.5 mg (range, 66-2536). Adenomas were clearly distinguished from normal glands by cellularity, stromal fat, and intracellular fat in chief cells. The weight of normal parathyroid glands removed at surgery in patients with PHP may be greater than that reported in autopsy studies. Therefore, certain histological features are a better measure than weight in determining whether a gland is normal, and intraoperative identification of slightly enlarged glands should not lead to immediate subtotal parathyroidectomy.