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Clinico-Hematological Profile in Hemoglobin SE Disease: A Case Series from a Tertiary Care Centre
Hemoglobin SE (HbSE) disease are rare globally and there is paucity of literature regarding this condition. Cases reported in the Indian scenario so...
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Combination of genomic instability score and TP53 status for prognosis prediction in lung adenocarcinoma
The genomic instability (GI) /homologous recombination deficiency (HRD) score, calculated as the sum of the events of loss of heterozygosity (LOH),...
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“Pure” hepatoid tumors of the pancreas harboring CTNNB1 somatic mutations: a new entity among solid pseudopapillary neoplasms
Hepatoid tumors (HTs) represent a rare group of neoplasms that are histologically similar to hepatocellular carcinoma but arise outside the liver....
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A case of coexistent poorly differentiated adenosquamous carcinoma (glassy cell carcinoma), usual-type adenocarcinoma, and squamous cell carcinoma in situ of the cervix
Poorly differentiated adenosquamous carcinoma (glassy cell carcinoma) of the cervix is extremely rare, accounting for 1–2% of all cervical cancers....
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Severe weight loss in a hypothyroid patient as an acute presentation of autoimmune polyglandular syndrome type II
BackgroundAutoimmune disease, including autoimmune thyroid disease, with uncharacteristic symptoms can be due to additional severe disease. We report...
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Follow-up of tissue genomics in BRCA1/2 carriers who underwent prophylactic surgeries
PurposeThe genomic status of non-malignant tissues from carriers of pathogenic germline BRCA1/2 (g BRCA1/2 ) variants may reveal information towards...
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Senescence-associated secretory phenotype constructed detrimental and beneficial subtypes and prognostic index for prostate cancer patients undergoing radical prostatectomy
BackgroundCellular senescence is growing in popularity in cancer. A dual function is played by the senescence-associated secretory phenotype (SASP)...
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Clinicopathologic and genetic analysis of invasive breast carcinomas in women with germline CHEK2 variants
PurposeGermline pathogenic variants in checkpoint kinase 2 ( CHEK2 ) are associated with a moderately increased risk of breast cancer (BC). The...
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Novel germline variants of CDKN1B and CDKN2C identified during screening for familial primary hyperparathyroidism
PurposeCDKN1B mutations were established as a cause of multiple endocrine neoplasia 4 (MEN4) syndrome in patients with MEN1 phenotype without a...
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Molecular and clinicopathological analysis revealed an immuno-checkpoint inhibitor as a potential therapeutic target in a subset of high-grade myxofibrosarcoma
This study aimed to identify differences in genetic alterations between low- and high-grade lesions in myxofibrosarcoma (MFS) and to examine the...
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Forensic characterization of 124 SNPs in the central Indian population using precision ID Identity Panel through next-generation sequencing
With the advent of next-generation sequencing technology, SNP markers are being explored as a useful alternative to conventional capillary...
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Somatic loss of the remaining allele occurs approximately in half of CHEK2-driven breast cancers and is accompanied by a border-line increase of chromosomal instability
PurposeGermline mutations in CHEK2 gene represent the second most frequent cause of hereditary breast cancer (BC) after BRCA1/2 lesions. This study...
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Combined therapy guided by multimodal imaging of fifteen retinal capillary hemangioblastomas in a monocular Von Hippel- Lindau syndrome case report
BackgroundTo report the multimodal imaging and treatment of fifteen retinal capillary hemangioblastomas (RCHs)...
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Unusual manifestations of young woman with MODY5 based on 17q12 recurrent deletion syndrome
BackgroundMaturity-onset diabetes of the young type 5 (MODY5) is a rare subtype of MODYs. It is caused by mutations of the hepatocyte nuclear factor...
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TSC2 somatic mosaic mutation, including extra-tumor tissue, may be the developmental cause of solitary subependymal giant cell astrocytoma
PurposeSubependymal giant cell astrocytomas (SEGAs) are tumors that usually arise in the wall of one or the other lateral ventricle near a foramen of...
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IgA nephropathy and atypical hemolytic uremic syndrome: a case series and a literature review
BackgroundIgA nephropathy (IgAN) has been anecdotally reported in association with atypical hemolytic uremic syndrome (aHUS). The association likely...
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Evaluation and comparison of population genetics software in Rabari Tribe of Gujarat population
BackgroundToday, when forensic experts talk about quantifiable hereditary traits, they do not just depend on the assessment and examination of DNA...
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GNRHR-related central hypogonadism with spontaneous recovery – case report
BackgroundCongenital hypogonadotropic hypogonadism (CHH) is a clinically and genetically heterogeneous disease characterized by absent or incomplete...
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Frequency and Nature of Genomic Alterations in ERBB2-Altered Urothelial Bladder Cancer
BackgroundHuman epidermal growth factor-2 (HER2) overexpression is an oncogenic driver in many solid tumors, including urothelial bladder cancer...
