UNASSIGNED: An association exists between immune checkpoint inhibitors and hemophagocytic lymphohistiocytosis (HLH). Therefore, the main objective of this study was to collect data on this rare but potentially life-threatening immune-related adverse reaction to identify the medications that cause it, the clinical characteristics, and effective treatments.
UNASSIGNED: Literature in English and Chinese on immune checkpoint inhibitors causing HLH published from August 2014 to March 2024 was analyzed. Immune checkpoint inhibitors, immunotherapy, anti-PD-1, PD-L1 inhibitors, HLH, hemophagocytic lymphohistiocytosis, hemophagocytic syndrome keywords were used to find the literature on China Knowledge Network, Wanfang, PubMed and Emabase Databases.
UNASSIGNED: Twenty-four studies were included, with a total of 27 patients (18 males and 9 females) with a mean age of 58 years (range 26-86). The mean time to the onset of symptoms was 10.3 weeks (7 days-14 months). The main clinical characteristics were fever, cytopenia, splenomegaly, methemoglobinemia, hypofibrinogenemia, and bone marrow biopsy showed phagocytosis. Twenty-two patients improved after the treatment with steroids, cytokine blocking therapy and symptomatic treatment, four patients died, and one patient was not described.
UNASSIGNED: HLH should be not underestimated as a potentially serious adverse effect of immune checkpoint inhibitors since appropriate treatments may save the life of patients.

UNASSIGNED: Cerebral venous sinus thrombosis (CVST) is a rare but serious complication of nephrotic syndrome (NS) in children. To investigate the clinical characteristics of CVST in children with NS in order to timely diagnose this complication and reduce poor outcome.
UNASSIGNED: Collect and analyze clinical data and magnetic resonance venography (MRV) results of children with NS complicated with CVST.
UNASSIGNED: Data of 6 patients with NS complicated with CVST were collected. 4 of the patients were steroid-sensitive nephrotic syndrome (SSNS) and 2 were steroid-resistant nephrotic syndrome (SRNS). The occurrence of CVST was observed within a time frame ranging from 12 days to 3 years following the diagnosis of NS. One patient had two episodes of thrombosis in three years, while the other five patients had only one episode of thrombosis. All patients had proteinuria at the time of episode of thrombosis. All patients presented with headache, and three of them had strabismus, seizures, and transient blindness, respectively. Neurological examination was negative. All patients were diagnosed with CVST by MRV within 3-16 days of the onset of headache. Two patients had TRPC6 gene mutation. All patients had resolution of neurological symptoms after anticoagulation treatment.
UNASSIGNED: CVST may occur in the early stages of NS. There is currently a lack of specific diagnostic indicators to reliably identify the presence of CVST in patients with NS. Children with NS who have neurological symptoms should be promptly evaluated with imaging studies. Whether TRPC6 gene mutation is also a risk factor for CVST remains to be further studied.

UNASSIGNED: Lung cancer is the most fatal malignant tumor in the world. Since the discovery of driver genes, targeted therapy has been demonstrated to be superior to traditional chemotherapy and has revolutionized the therapeutic landscape of non-small cell lung cancer (NSCLC). The remarkable success of tyrosine kinase inhibitors (TKIs) in patients with epidermal growth factor receptor (EGFR) mutations and anaplastic lymphoma kinase (ALK) fusions has shifted the treatment from platinum-based combination chemotherapy to targeted therapy. Although the incidence rate of gene fusion is low in NSCLC, it is of great significance in advanced refractory patients. However, the clinical characteristics and the latest treatment progress of patients with gene fusions in lung cancer have not been thoroughly explored. The objective of this narrative review was to summarize the latest research progress of targeted therapy for gene fusion variants in NSCLC to improve understanding for clinicians.
UNASSIGNED: We conducted a search of PubMed database and American Society of Clinical Oncology (ASCO), the European Society for Medical Oncology (ESMO), and World Conference on Lung Cancer (WCLC) abstracts meeting proceedings from 1 January 2005 to 31 August 2022 with the following keywords \"non-small cell lung cancer\", \"fusion\", \"rearrangement\", \"targeted therapy\" and \"tyrosine kinase inhibitor\".
UNASSIGNED: We comprehensively listed the targeted therapy of various gene fusions in NSCLC. Fusions of ALK, ROS proto-oncogene 1 (ROS1), and rearranged during transfection proto-oncogene (RET) are relatively more common than others (NTRK fusions, NRG1 fusions, FGFR fusions, etc.). Among ALK-rearranged NSCLC patients treated with crizotinib, alectinib, brigatinib, or ensartinib, the Asian population exhibited a slightly better effect than the non-Asian population in first-line therapy. It was revealed that ceritinib may have a slightly better effect in the non-Asian ALK-rearranged population as first-line therapy. The effect of crizotinib might be similar in Asians and non-Asians with ROS1-fusion-positive NSCLC in first-line therapy. The non-Asian population were shown to be more likely to be treated with selpercatinib and pralsetinib for RET-rearranged NSCLC than the Asian population.
UNASSIGNED: The present report summarizes the current state of fusion gene research and the associated therapeutic methods to improve understanding for clinicians, but how to better overcome drug resistance remains a problem that needs to be explored.

Objective: This study aimed at to raise the awareness understanding of primary pulmonary lymphoma (PPL) by analyzing the clinical manifestation, imaging, pathology, diagnosis, treatment, and prognostic features of 50 cases of PPL. Methods: The study of 50 individuals with PPL diagnosed at the First affiliated hospital of Nanchang university between January 2009 and December 2019 was performed. Results: Overall, 27 males and 23 females were enrolled, with an average age of 57.6 ± 15.6 years. The primary symptoms included, cough (n = 37), expectoration (n = 25), sputum with blood (n = 12), and chest pain (n = 12). Two individuals had Hodgkin\'s lymphoma and 48 patients had non-Hodgkin\'s lymphoma (NHL). We divided the NHL cases into mucosa-associated lymphoid tissue lymphoma (MALT) (n = 21), diffuse large B-cell lymphoma (n = 12), small lymphocytic lymphoma (n = 2), mantle B-cell lymphoma (n = 2), follicular lymphoma (n = 1), B-cell lymphoma without further classification (n = 8), and T-cell lymphoma (n = 2). The imaging findings revealed that unilateral lung involvement was more common among the patients. The longest follow-up duration up to December 2019 was 123 months with 40 surviving patients. The 5-year overall survival and progression-free survival were 46.7% and 44.4%, respectively. Age was an independent predictive factor for the 5-year survival (hazard ratio, 8.900; P = .038), (P < .05). Conclusion: PPL is a uncommon disease with atypical clinical manifestations and is often misdiagnosed. Immunohistochemistry is currently the standard used in pathologic evaluation of PPL. MALT prognosis is better in contrast with other kinds of PPL. Surgery or radiotherapy can be considered in patients with limited lesions, and chemotherapy is the first treatment option for diffuse lesions. Age of ≥ 60 years was reported as an independent adverse predictive factor.

Long noncoding RNAs (lncRNAs) are a major type of noncoding RNA greater than 200 nucleotides in length involved in important regulatory processes. Abnormal expression of certain lncRNAs contributes to the pathogenesis of multiple diseases, including cancers. The lncRNA LINC00707 is located on chromosome 10p14 and is abnormally expressed in numerous disease types, and particularly in several types of cancer. High LINC00707 levels mediate a series of biological functions, including cell proliferation, apoptosis, metastasis, invasion, cell cycle arrest, inflammation, and even osteogenic differentiation. In this review, we discuss the main functions and underlying mechanisms of LINC00707 in different diseases and describe promising applications of LINC00707 in clinical settings.

18q- syndrome is a rare chromosomal disease caused by the deletion of the long arm of chromosome 18. Some cases with 18q- syndrome can be combined with growth hormone deficiency (GHD), but data on the efficacy of recombinant human growth hormone (rhGH) treatment in 18q- syndrome are limited.
Here, we report one case of 18q- syndrome successfully treated with long-term rhGH supplement. Previously reported cases in the literature are also reviewed to investigate the karyotype-phenotype relationship and their therapeutic response to rhGH.
A 7.9-year-old girl was referred for evaluation for short stature. Physical exam revealed proportionally short stature with a height of 111.10 cm (-3.02 SD score (SDS)), low-set ears, a high-arched palate, a small jaw, webbed neck, widely spaced nipples, long and tapering fingers, and cubitus valgus. Thyroid function test indicated subclinical hypothyroidism. The peak value of growth hormone was 10.26 ng/ml in the levodopa provocation test. Insulin-like growth factor 1 (IGF-1) was 126 ng/ml (57-316 ng/ml). Other laboratory investigations, including complete blood cell count, liver and kidney function, gonadal function, serum adrenocorticotropin levels, and serum cortisol levels, were all within normal ranges. Karyotype analysis showed 46, XX, del (18) (q21). L-Thyroxine replacement and rhGH treatment were initiated and maintained in the following 7 years. At the age of 14.8, her height has reached 159.5 cm with a height SDS increase of 2.82 SDS (from -3.02 SDS to -0.20 SDS). No significant side effects were found during the treatment. The literature review indicated the average rhGH treatment duration of 16 patients was 5.9 ± 3.3 years, and the average height SDS significantly increased from -3.12 ± 0.94 SDS to -1.38 ± 1.29 SDS after the rhGH treatment (p < 0.0001).
The main clinical manifestations of 18q- syndrome include characteristic appearance, intellectual disability, and abnormal genital development. The literature review suggested a significant height benefit for short stature with 18q- syndrome from long-term rhGH treatment.

BACKGROUND: Ring chromosome 15 [r (15)] is an uncommon finding with various clinical manifestations. A common phenotype for these patients has not been established and data on the efficacy of recombinant human growth hormone (rhGH) treatment in patients with r (15) syndrome are limited.
METHODS: One short stature patient in our hospital with r (15) syndrome by whole exome sequencing (WES) and karyotype examination was included. All published r (15) syndrome cases as of March 15, 2021, were searched, and their clinical information was recorded and summarized.
RESULTS: One 11.5-year-old female with prenatal and postnatal growth retardation, ventricular septal defect, intellectual disability, downward corners, short fifth metacarpal bone, scattered milk coffee spots, and a right ovarian cyst was included. Her height was 126.9 cm (-3.45 SDS). Karyotype analysis showed 46, XX, r (15). WES revealed a 4.5 Mb heterozygous deletion in the chromosome 15q26.2-q26.3 region, encompassing genes from ARRDC4 to OR4F15. Gonadotrophin-releasing hormone analogue (triptorelin) and rhGH were administered for 6 months. The height has increased 3.8 cm (+0.2SDS) and the calculated growth rate has improved from 4.7 to 7.6 cm/y. The literature review indicated the main clinical manifestations of r (15) syndrome with prenatal and postnatal growth retardation, characteristic craniofacial features, and multisystem abnormalities, and rhGH treatment is beneficial for r (15) syndrome patients with short stature.
CONCLUSIONS: We delineate the clinical spectrum of r (15) syndrome with the identification of an additional individual and rhGH treatment is beneficial for r (15) syndrome patients with short stature.

Primary mucinous tumors of the testis and paratestis are very rare, with only 29 reported cases detected in a PubMed search. The histopathological characteristics of primary testicular mucinous tumors are similar to their ovarian counterparts, and the diagnosis and naming criteria refer to the criteria for female ovarian mucinous tumors. However, the clinical and imaging features of primary testicular mucinous tumors are poorly understood, and they are thus frequently undiagnosed or misdiagnosed. We present the case of a patient with a primary testicular mucinous tumor. A 52-year-old man presented with a 1-year history of painless enlargement of the left scrotum. Ultrasound examination revealed a cystic mass in the left testis, with viscous fluid areas and calcified spots, irregular solid bulges on the cyst wall, and a small blood supply. Serum alpha-fetoprotein, β-human chorionic gonadotropin, lactate dehydrogenase, renal function, inflammatory markers, and routine urine and blood examinations were all normal. The patient underwent radical resection of the left testis. Postoperative pathology showed a multilocular cystic mass, with the inner wall of the sac lined with mucous columnar epithelial cells, some with mild nuclear atypia, and no interstitial infiltration. The pathological diagnosis was testicular mucinous tumor. Postoperative abdominal and pelvic computed tomography, colonoscopy, and gastroscopy showed no suspicious lesions. The final diagnosis was primary testicular borderline mucinous tumor. The patient underwent postoperative follow-up examinations once a year for 4 years. Serum tumor markers, scrotal ultrasound, abdominal and pelvic computed tomography scans, and colonoscopy and gastroscopy revealed no evidence of metastases or other primary adenocarcinoma. This case highlights the clinical and imaging characteristics of primary testicular mucinous tumors, which might aid their differential diagnosis.

A lipoblastoma is an infrequent benign tumor derived from embryonal adipose tissue. There are few reports on kidney lipoblastomas; there are fewer than three cases, including our case. An 80-year-old female was detected to have a left renal mass during a routine medical examination. Computed tomography (CT) and magnetic resonance imaging (MRI) indicated a heterogeneous mass before surgery, and histopathological tests subsequently revealed that the mass was a rare lipoblastoma. We present this case as a reminder to consider lipoblastomas in the differential diagnoses of kidney masses.

UNASSIGNED: Many studies have aimed to clarify the relationship between Notch1 signaling and papillary thyroid carcinoma (PTC), but the results have been inconsistent to date. In the present study, a systematic review and meta-analysis were performed to analyze the relationship between Notch1 signaling and the clinical characteristics of PTC.
UNASSIGNED: Literature databases, including PubMed (Medline), Embase and China National Knowledge Infrastructure, were searched for relevant studies from inception to April 2018. A total of five studies, including 421 patients with PTC from China and South Korea, were included in the meta-analysis.
UNASSIGNED: The results revealed that the upregulation of Notch1 signaling was positively correlated with lymph node metastasis in patients with PTC (OR = 3.25, 95% CI 1.14-9.23, P = 0.03). Additionally, positive correlations were found between Notch1 signaling and tumor size (OR = 4.34, 95% CI 1.66-11.38, P = 0.003), capsular invasion (OR = 3.49, 95% CI 1.90-6.41, P < 0.0001) and clinical stage of PTC (OR = 2.31, 95% CI 1.05-5.11, P = 0.04).
UNASSIGNED: The Notch1 signaling pathway may play a catalytic role in the progression of PTC, and upregulation of Notch1 signaling may have significant predictive value for the clinical prognosis of PTC.