85 research outputs found
Finishing the euchromatic sequence of the human genome
The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead
Adrenocortical Carcinoma: Updates of Clinical and Pathological Features after Renewed World Health Organisation Classification and Pathology Staging
Adrenocortical carcinoma (ACC) is a heterogenous group of diseases with different clinical behaviour between adult and paediatric patients. In addition, three histological variants, oncocytic, myxoid and sarcomatoid are noted on the recent World Health Organisation (WHO) classification of ACC. A review of recent literature showed that the different types of ACC have distinctive demographic data, clinical presentation, pathology, biological behaviour, genomic and patients’ prognosis. In addition, recent updates of pathology staging for ACC allow refinement of prognostic grouping for planning treatment of the patients with ACC. These advances in genomic, pathology and staging have driven the development of standardisation of pathology reporting. International standardisation of pathological reporting of adrenocortical carcinoma and adaption to local pathology communities provide universal platforms for clinicians and researchers involved in the management of patients with ACC. To conclude, all these advances in the field of pathology will improve development of management strategies including improvement of clinical care, development of prognostic markers and testing of novel therapeutic approaches for patients with adrenocortical carcinoma
Pancreatic neuroendocrine neoplasms: Clinicopathological features and pathological staging
. The nomenclature and classification of
pancreatic neuroendocrine neoplasms has evolved in the
last 15 years based on the advances in knowledge of the
genomics, clinical behaviour and response to therapies.
The current 2019 World Health Organization
classification of pancreatic neuroendocrine neoplasms
categorises them into three groups; pancreatic
neuroendocrine tumours (PanNETs) (grade 1 grade 2,
grade 3), pancreatic neuroendocrine carcinomas and
mixed neuroendocrine-non-neuroendocrine neoplasms
(MiNENs) based on the mitotic rate, Ki-67 index,
morphological differentiation and/or co-existing tissue
subtype. PanNETs are also classified into non-functional
NET, insulinoma, gastrinoma, VIPoma, glucagonoma,
somatostatinoma, ACTH-producing NET and serotonin
producing NET based on hormone production and
clinical manifestations. A portion of the cases were
associated with genetic syndromes such as multiple
neuroendocrine neoplasia 1 (MEN 1), neurofibromatosis
and Von Hippel-Lindau syndrome. In view of the
distinctive pathology and clinical behaviour of
PanNENs, the current 8th AJCC/UICC staging system
has separated prognostic staging grouping for PanNETs
from the pancreatic neuroendocrine carcinomas or
MiNENs. Pancreatic neuroendocrine carcinomas and
MiNENs are staged according to the prognostic stage
grouping for exocrine pancreatic carcinoma. The new
stage grouping of PanNETs was validated to have
survival curves separated between different prognostic
groups. This refined histological and staging would lead
to appropriate selections of treatment strategies for the
patients with pancreatic neuroendocrine neoplasm
Anaplastic thyroid carcinoma: Updates on WHO classification, clinicopathological features and staging
Anaplastic thyroid carcinoma is an
uncommon carcinoma representing 1 to 4% of all
thyroid cancers. The carcinoma is most common in
females of the eight decades. It is a locally advanced
cancer with frequent infiltration of surrounding organs,
blood vessels and skin of neck. Paraneoplastic
manifestations could occur. Approximately half of the
patients with anaplastic thyroid carcinoma had distant
metastasis with lung and brain as the most frequent sites
of metastasis. The median survival of patients with
anaplastic thyroid carcinoma reported was from 1 to 6
months. The terminology of the cancer in World Health
Organization is "anaplastic thyroid carcinoma" rather
than "undifferentiated thyroid carcinoma". In the latest
American Joint Committee on Cancer (AJCC) TNM
staging system for anaplastic thyroid carcinoma, there
are updates on T and N categories. To conclude, updated
knowledge of clinicopathological features, classification,
pathological staging will improve our understanding of
the cancer and will help in the management of the
patients with this aggressive cancer
Primary squamous cell carcinoma of the rectum in a patient on immunosuppressive therapy
Primary squamous cell carcinoma of the rectum is a rare\ud
tumour.1–11 The diagnosis of squamous cell carcinoma rests\ud
on the exclusion of metastases from other organs, proximal\ud
extension of carcinoma arising from the anal canal and\ud
squamous-lined fistulous tracts. Here we report an uncommon\ud
presentation of rectal squamous cell carcinoma in a\ud
woman on long-term immunosuppressive therapy
Pathology and molecular biology of malignant thyroid tumours
published_or_final_versiontocabstractMedicineMasterDoctor of Medicin
Clinicopathological and Molecular Features of Secondary Cancer (Metastasis) to the Thyroid and Advances in Management
Secondary tumours to the thyroid gland are uncommon and often incidentally discovered on imaging. Symptomatic patients often present with a neck mass. Collision tumours of secondary tumours and primary thyroid neoplasms do occur. Ultrasound-guided fine-needle aspiration, core-needle biopsy, and surgical resection with histological and immunohistochemical analysis are employed to confirm diagnosis as well as for applying molecular studies to identify candidates for targeted therapy. Biopsy at the metastatic site can identify mutations (such as EGFR, K-Ras, VHL) and translocations (such as EML4-ALK fusion) important in planning target therapies. Patients with advanced-stage primary cancers, widespread dissemination, or unknown primary origin often have a poor prognosis. Those with isolated metastasis to the thyroid have better survival outcomes and are more likely to undergo thyroid resection. Systemic therapies, such as chemotherapy and hormonal therapy, are often used as adjuvant treatment post-operatively or in patients with disseminated disease. New targeted therapies, such as tyrosine kinase inhibitors and immune checkpoint inhibitors, have shown success in reported cases. A tailored treatment plan based on primary tumour features, overall cancer burden, and co-morbidities is imperative. To conclude, secondary cancer to the thyroid is uncommon, and awareness of the updates on diagnosis and management is needed
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