Superresolution microscopy reveals linkages between ribosomal DNA on heterologous chromosomes
The spatial organization of the nucleus is startlingly intricate. Chromosomes occupy distinct territories, and can form complex intra- and inter-chromosomal connections. However, these associations, especially those of the inter-chromosomal variety, are still mysterious in frequency and function. ..
Clinicopathological Characterization of Renal Cell Carcinoma in Young Adults: a contemporary update and review of literature
A continuous challenge for cancer researchers is conducting analyses in age groups where cases are limited. Renal cell carcinoma (RCC) is a kidney cancer that occurs in individuals of all ages, but is far more prevalent in older patients. Because of this, research on young adult and childhood RCC (in particular, morphological and genetic characterization studies) has been scant. ..
Hydropic leiomyoma: a distinct variant of leiomyoma closely related to HMGA2 overexpression
Uterine leiomyoma (ULM) is the most prevalent benign tumor of the female reproductive system, occurring in up to 70% of pre-menopausal women. Several different subtypes have been identified, including hydropic leiomyoma (HLM). Certain aspects of HLM’s morphology make it difficult to identify – particularly, cases with extensive hydropic change can hide features typical of leiomyoma, making diagnosis tricky...
Pediatric acute myeloid leukemia with t(7;21)(p22;q22)
Pediatric acute myeloid leukemia (AML) accounts for about 25% of childhood cancer cases. While survival rates have risen dramatically in the past few decades, 30% of patients still experience relapse. Fortunately, recent studies have uncovered a variety of genetic abnormalities specific to the disease that both (A) provide important hints about its pathogenic/clinical course and (B) may serve as therapeutic targets for future treatment...
Analysis of NTRK Alterations in Pan-Cancer Adult and Pediatric Malignancies: Implications for NTRK-Targeted Therapeutics
We now understand that cancer is a disease rooted in genomic breakdown. But when analyzing a patient’s genome, not all mutations contribute equally to disease. Further complicating things is the fact that, even after a gene’s role in cancer development is clearly established, only certain alterations can be targeted by current therapies. Therapeutically targetable mutations, therefore, are needles in the haystack for cancer researchers – which explains the recent excitement around the NTRK gene family...
Somatic and germline genomics in paediatric acute lymphoblastic leukaemia
The interplay between hereditary and somatic mutations in cancer development has been a difficult relationship for oncologists to unravel. While we now know that some cancers are indeed heritable, we don’t always know to what degree. Pediatric acute lymphoblastic leukemia (ALL) is one such disease, with a well-documented but still ambiguous hereditary component. A new study out of St. Jude’s Research Hospital – Somatic and germline genomics in paediatric acute lymphoblastic leukaemia (ALL) - expanded on the complex genetics of the disease. ..
Infantile NTRK-Associated Mesenchymal Tumors
Infantile fibroblastic and myofibroblastic tumors are the second most prevalent type of soft tissue neoplasms in pediatric patients < 1 years old. Although the majority of these tumors are either benign or low-grade, there are certain subtypes with a higher tendency toward malignancy. Congenital infantile fibrosarcoma (CIFS) is one such high-risk group. CIFS patients, who are nearly always less 2 years old, present with morphologically ambiguous tumors that can resemble a range of other infantile neoplasms of varying clinical course, including myofibroma/myofibromatosis, lipofibromatosis and fibrous hamartoma of infancy, primitive myxoid mesenchymal tumor of infancy (PMMTI), and dermatofibrosarcoma protuberans (DFSP)...
Alterations in ALK / ROS1 / NTRK / MET Drive a Group of Infantile Hemispheric Gliomas
Gliomas are rare brain tumors that can affect individuals of all ages. While studies are plentiful on pediatric and adult gliomas, infant cases are historically understudied – an unfortunate fact, considering central nervous system tumors are most common (and deadly) in this age group. This research team sought to account for that lack of data by cytogenetically analyzing infant glioma samples collected between 1986 and 2017. The team was able to divide these tumors into three genetic subtypes that were tightly tied to clinical outcome. Additionally, they found that many of the tumors harbored just a single genetic aberration, evidence that infant gliomas are usually single driver tumors...
