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Secondary Germline Finding in Liquid Biopsy of a Deceased Patient; Case Report and Review of the Literature.

ABSTRACT: Liquid biopsies are increasingly used in the care of patients with advanced cancers. These tests are used to find mutations and other genomic alterations, quantify these findings over time, and guide treatment. It is not unexpected that germline mutations contributing to the development of cancer can be identified in cell-free DNA. Consequently, increased use of liquid biopsies has resulted in subsequent rise of secondary identification of germline mutations. Clinicians need to be aware of this potential use of liquid biopsies and the need to evaluate the patient and family members for confirmation. Our case documents a deceased patient's liquid biopsy result that was confirmed as a germline mutation through a methodical work-up of the patient's family members. Here, we present the case and provide a brief review of pertinent literature.

SUBMITTER: Veyseh M

PROVIDER: S-EPMC6052887 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

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Secondary Germline Finding in Liquid Biopsy of a Deceased Patient; Case Report and Review of the Literature.

Veyseh Maedah M Ricker Charite C Espenschied Carin C Raymond Victoria V D'Souza Anishka A Barzi Afsaneh A

Frontiers in oncology 20180709

Liquid biopsies are increasingly used in the care of patients with advanced cancers. These tests are used to find mutations and other genomic alterations, quantify these findings over time, and guide treatment. It is not unexpected that germline mutations contributing to the development of cancer can be identified in cell-free DNA. Consequently, increased use of liquid biopsies has resulted in subsequent rise of secondary identification of germline mutations. Clinicians need to be aware of this ...[more]

PMID: 30050867

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Project description:BackgroundAdult-onset colonic intussusception is a rarely encountered condition that leads to large intestinal obstruction with time. Patients often present with a variety of symptoms that are non-specific making it challenging to arrive at a definitive diagnosis. This is worrying as diagnostic delay could lead to a significant increase in morbidity and mortality. We wish to present and describe a case of an atypical endoscopic finding of colocolic intussusception secondary to ascending colon cancer.Case descriptionSixty-seven-year-old lady was referred for 1 month's duration of passing melenic stools with mucus followed by a week's complain of hematochezia. Clinical examination and other relevant blood results were unremarkable except for iron deficiency anemia. Initial colonoscopy revealed a large mass within the splenic flexure with inconclusive biopsies. A more detailed colonoscopy repeated the following day revealed a massive, black-to-yellowish lesion within the splenic flexure with no viable mucosa seen. Colonic bezoar was initially suspected, however various endoscopic retrieval methods proved futile. Switching to a slimmer diagnostic gastroscope, the colon was carefully negotiated until a large ulcer was found within the ascending colon, adjacent to the mass' origin. An emergency CT abdomen and subsequently extended right hemicolectomy performed revealed a colocolic intussusception with sealed perforation secondary to an ascending colonic mass acting as an intussusceptum. Histopathology evaluation confirmed an ascending colon adenocarcinoma (pT2N0M0) amidst a background of extensive ischemic changes.ConclusionsEndoscopic descriptions of colonic intussusception are unusual given their rarity. Furthermore, these lesions can mimic a colonic bezoar as a result of fecal accretion and this can ultimately lead to false diagnostic and therapeutic decisions. In such instances, clarification with a CT scan before management decision can potentially avert unnecessary endoscopic intervention and complications.

Project description:Secondary Hyperparathyroidism (SHPT) is a common complication of end-stage renal disease (ESRD), and parathyroid surgery (PTX) is an effective way to treat patients with severe SHPT. ESRD has multiple associations with cerebrovascular diseases. For example, the incidence of stroke in patients with ESRD is 10 times higher than that in the general population, the risk of death after acute stroke is three times higher, and the risk of hemorrhagic stroke is significantly higher. High/low serum calcium, high PTH, low serum sodium, high white blood cell count, previous occurrences of cerebrovascular events, polycystic kidney disease (as a primary disease), and the use of anticoagulants are independent risk factors for hemorrhagic stroke in hemodialysis patients with uremia. The risk of stroke in patients who undergo PTX decreases significantly in the second year of follow-up and persist thereafter. However, studies on the risk of perioperative stroke in SHPT patients are limited. After undergoing PTX, the PTH levels in SHPT patients drop suddenly, they undergo physiological changes, bone mineralization increases, and calcium in the blood gets redistributed, often accompanied by severe hypocalcemia. Serum calcium might influence the occurrence and development of hemorrhagic stroke at various stages. To prevent bleeding from the operated area, the use of anticoagulants after surgery is reduced in some cases, which often decreases the frequency of dialysis and increases the quantity of fluid in the body. An increase in the variation in blood pressure, instability of cerebral perfusion, and extensive intracranial calcification during dialysis promote hemorrhagic stroke, but these clinical problems have not received enough attention. In this study, we reported the death of an SHPT patient who suffered a perioperative intracerebral hemorrhage. Based on this case, we discussed the high-risk factors for perioperative hemorrhagic stroke in patients who undergo PTX. Our findings might help in the identification and early prevention of the risk of profuse bleeding in patients and provide reference for the safe performance of such operations.

Dataset Information

Secondary Germline Finding in Liquid Biopsy of a Deceased Patient; Case Report and Review of the Literature.

Publications

Secondary Germline Finding in Liquid Biopsy of a Deceased Patient; Case Report and Review of the Literature.

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