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Diagnostic Pathology Jun 2024Inflammatory rhabdomyoblastic tumors are relatively recently recognized soft tissue tumors with a low malignant potential. Here, we present a case of concurrent...
BACKGROUND
Inflammatory rhabdomyoblastic tumors are relatively recently recognized soft tissue tumors with a low malignant potential. Here, we present a case of concurrent inflammatory rhabdomyoblastic tumor (IRMT), adrenal pheochromocytoma, and pulmonary hamartoma in a patient with neurofibromatosis type 1 (NF1). To our knowledge, this is the first time that this constellation of tumors has been described in the literature.
CASE PRESENTATION
A female patient in her late 20s with known NF1 was diagnosed with an inflammatory rhabdomyoblastic tumor, pheochromocytoma, and pulmonary hamartoma in a short succession. IRMT was found to harbor a near-haploid genome and displayed a typical immunohistochemical profile as well as a focal aberrant p53 expression pattern.
CONCLUSIONS
This case report strengthens the theory that defects in the tumor suppressor NF1 play a central role in the pathogenesis of inflammatory rhabdomyoblastic tumors and that IRMT may be part of the spectrum of neurofibromatosis type 1 related tumors.
Topics: Humans; Neurofibromatosis 1; Female; Hamartoma; Pheochromocytoma; Adrenal Gland Neoplasms; Adult; Immunohistochemistry; Lung Diseases; Neurofibromin 1; Biomarkers, Tumor
PubMed: 38862977
DOI: 10.1186/s13000-024-01503-3 -
Prenatal Diagnosis Jun 2024We aimed to investigate the yield of prenatal exome sequencing (pES) in morphologically normal fetuses.
OBJECTIVE
We aimed to investigate the yield of prenatal exome sequencing (pES) in morphologically normal fetuses.
METHOD
This retrospective study analyzed 254 families with morphologically normal fetuses who underwent prenatal trio exome sequencing based on parental request between September 2020 and October 2023.
RESULTS
Overall, abnormal findings were detected in 8 families (3.1%, 8/254) by pES. Among these, 6 families (2.3%, 6/254) were found to have fetuses affected with monogenic disorders (2 autosomal recessive conditions and 4 autosomal dominant conditions), while 2 families (0.8%, 2/254) were incidentally found to be couples at risk of having a future pregnancy with a recessive condition. Among the six fetuses detected with monogenic disorders, two fetuses carried a de novo variant in OPA1 and NF1, which are known to cause Optic atrophy 1 and Neurofibromatosis, respectively. One fetus was detected with a maternally inherited variant in PKD2 related to polycystic kidney disease 2 (not known to the mother until then). One fetus was detected with a maternally inherited variant in SDHB associated with Pheochromocytoma. Two fetuses carried compound heterozygous variants in NAGLU and GJB2 associated with Mucopolysaccharidosis type IIIB and Deafness, respectively. In the 2 families where parents were found to be carriers but the fetuses were unaffected, heterozygous variants in the GJB2 and SERPINB7 genes were detected in the parents, respectively, which are associated with deafness and palmoplantar keratoderma.
CONCLUSION
Our research indicated that pES can provide significant critical information for families with morphologically normal fetuses. Prenatal screening with exome sequencing requires careful management and detailed pre-test and post-test genetic counseling.
PubMed: 38862389
DOI: 10.1002/pd.6624 -
BMJ Case Reports Jun 2024The following case discusses the surgical considerations for a patient presenting with cardiogenic shock secondary to a phaeochromocytoma crisis with stress...
The following case discusses the surgical considerations for a patient presenting with cardiogenic shock secondary to a phaeochromocytoma crisis with stress cardiomyopathy. The patient underwent an interval laparoscopic adrenalectomy. Pneumoperitoneum insufflation was performed at lower pressures; manipulation of the adrenal tumour was minimised, and the adrenal vein was ligated early. However, as intraoperative blood pressure (BP) remained elevated and rising, further gentle dissection revealed an aberrant inferior phrenic vein draining the adrenal nodule. BP was finally reduced following ligation of the inferior phrenic vein, demonstrating the clinical significance of an unusual dual venous drainage from the adrenal nodule in this patient.
Topics: Humans; Pheochromocytoma; Adrenal Gland Neoplasms; Adrenalectomy; Takotsubo Cardiomyopathy; Female; Shock, Cardiogenic; Middle Aged; Laparoscopy; Perioperative Care; Male
PubMed: 38862185
DOI: 10.1136/bcr-2024-260479 -
Clinical Nuclear Medicine Jun 2024A 17-year-old boy with Von Hippel-Lindau syndrome presented with hypertension, raised plasma catecholamines, and MRI findings of a new pancreatic tail lesion and 2...
A 17-year-old boy with Von Hippel-Lindau syndrome presented with hypertension, raised plasma catecholamines, and MRI findings of a new pancreatic tail lesion and 2 stable right adrenal lesions concerning for functional neuroendocrine tumors. A 68Ga-DOTATATE PET/CT demonstrated intense tracer avidity within the pancreatic lesion with minimal uptake in the adrenal lesions. Conversely, a 123I-MIBG SPECT/CT study demonstrated high-grade tracer uptake within the adrenal lesions, with no significant uptake appreciated in the pancreatic lesion. The adrenal lesions were resected, and pathology was consistent with pheochromocytoma. Plasma catecholamines returned to within the normal range and hypertension resolved.
PubMed: 38861407
DOI: 10.1097/RLU.0000000000005308 -
Cureus May 2024We present a case of rocuronium-induced hypertensive crises that occurred twice in a patient with paraganglioma. An 86-year-old woman was first scheduled for laminectomy...
We present a case of rocuronium-induced hypertensive crises that occurred twice in a patient with paraganglioma. An 86-year-old woman was first scheduled for laminectomy for lumbar spinal stenosis. Five minutes after intravenous induction of anesthesia using fentanyl, propofol, rocuronium, and remifentanil, the patient's blood pressure (BP) and heart rate (HR) suddenly increased with no stimuli. Surgery was postponed because the patient was suspected of having pheochromocytoma. After that, paraganglioma was diagnosed, and surgery for removal of the paraganglioma was scheduled after the commencement of alpha-blocker therapy. The patient's hemodynamic parameters remained stable when anesthesia was induced with an infusion of remimazolam. Subsequently, immediately after rocuronium was administered as an intravenous bolus, the patient's arterial BP and HR increased, and plasma concentrations of noradrenaline and rocuronium had markedly increased. Ten minutes after the administration of rocuronium, the patient's BP and HR gradually and fully recovered without any intervention. The plasma concentrations of both noradrenaline and rocuronium also concurrently decreased. We conclude that simultaneous increases in BP, HR, and plasma concentration of noradrenaline revealed a direct correlation with rocuronium.
PubMed: 38854215
DOI: 10.7759/cureus.59868 -
Endocrine Jun 2024Pheochromocytoma is a rare neuroendocrine tumor. Despite the low incidence, these tumors are of indisputable importance. This study aimed to analyze the management of...
PURPOSE
Pheochromocytoma is a rare neuroendocrine tumor. Despite the low incidence, these tumors are of indisputable importance. This study aimed to analyze the management of pheochromocytoma in a referral center, with an emphasis on the minimally invasive adrenalectomy, which is the preferred therapeutic approach.
METHODS
A retrospective analysis was performed on a cohort of patients diagnosed with pheochromocytoma who underwent adrenalectomy between January 2013 and December 2022. Clinical data including demographics, timelines, symptomatology, comorbidities, biochemical markers, genetic testing, surgical details, and follow-up outcomes, were collected and analyzed.
RESULTS
The cohort included 44 patients, predominantly women (52.27%), with a median age of 53.39 years (range 13-83). Most of patients exhibited paroxysmal symptoms suggesting catecholamine excess. Documented hypertension was the most frequent (86.36%), along with glucose anomalies (40.01%) and anxiety disorder (31.82%). Genetic testing was performed in 36 (81.81%) patients and 14 (38.88%) revealed a positive result, predominantly RET pathogenic variant. Laparoscopic surgery was performed in 34 (79.07%) patients, showing significantly shorter operative time (2.5 h vs. 4.25 h, t-test p < 0,001) and fewer complications (23.53% vs 77.78%, p = 0.008). Postoperative complications occurred in 36.36% of the patients, mostly mild (grade I, 56.25%), with no mortality. SDHB pathogenic variant correlated with both recurrent and metastatic disease (p = 0.006). One-year follow-up reported 9.09% recurrence and 6.82% metastasis.
CONCLUSIONS
Adrenalectomy demonstrated a high safety and effectiveness. This study exhibited a higher rate of genetic testing referral than other studies. Despite past advances, there is still a need for further studies to establish protocols and evaluate new techniques.
PubMed: 38849646
DOI: 10.1007/s12020-024-03916-y -
Medicina Clinica Jun 2024Pheochromocytomas are rare neuroendocrine tumors that derive from the chromaffin cells of the adrenal medulla and secrete catecholamines. The measurement of plasma or... (Review)
Review
Pheochromocytomas are rare neuroendocrine tumors that derive from the chromaffin cells of the adrenal medulla and secrete catecholamines. The measurement of plasma or fractionated urine metanephrines is the hormonal determination of choice for the biochemical diagnosis. Once the biochemical diagnosis is confirmed, the next step is the localization study. It is recommended to request a genetic study in all patients with pheochromocytomas since 40% of cases are hereditary. Once the diagnostic study is completed, preoperative treatment with alpha blockers should be instituted at least 7-14 days before adrenalectomy. However, in low-risk patients, the omission of presurgical treatment could be considered if the surgery is performed in centers with experience and a strict monitoring of the patient is carried out during the perioperative period. This document offers a practical guide on the diagnosis and perioperative approach in patients with pheochromocytomas.
PubMed: 38849272
DOI: 10.1016/j.medcli.2024.03.025 -
Indian Journal of Pathology &... Jun 2024The presence of distant metastasis is known to drastically reduce survival of adrenal pheochromocytoma (PH) and extra-adrenal paraganglioma (PGL). Therefore, predicting...
BACKGROUND
The presence of distant metastasis is known to drastically reduce survival of adrenal pheochromocytoma (PH) and extra-adrenal paraganglioma (PGL). Therefore, predicting malignant potential has an immense impact on prognosis. Pheochtomocytoma of adrenal gland scaled score (PASS) and the grading of adrenal pheochromocytoma and paraganglioma (GAPP) score are two histological algorithms used to predict metastatic potential, but neither has been regarded as 'gold-standard'. Both these scoring systems are yet to be validated. Here, we tried to validate the association of GAPP/PASS scores with disease outcome and strength of association between individual GAPP/PASS parameters with prognosis.
MATERIALS AND METHODS
This was a prospective study comprising 22 pheochromocytomas and eight paragangliomas. GAPP score was calculated in paraganglioma cases, and both GAPP/PASS scores were calculated for pheochromocytomas. Disease outcome was then tallied with risk stratification of the GAPP/PASS scoring system. Succinate dehydrogenase B (SDHB) immunohistochemistry was done in 15 cases to see its impact on prognosis.
RESULTS
The common PASS parameters associated with malignancy were 'high cellularity', 'tumor cell spindling' and 'extension into adipose tissue'. PASS score showed high sensitivity and negative predictive value but low specificity and positive predictive value. Similarly, GAPP score also showed high sensitivity and negative predictive value but low specificity and positive predictive value.
CONCLUSION
In our study, GAPP/PASS scores successfully segregated tumor with low malignant potential from tumor with higher risk of metastasis, although specificity of GAPP was more than PASS. We also found that addition of objective parameters like SDHB immunohistochemistry may further increase the specificity of the existing scoring system.
PubMed: 38847206
DOI: 10.4103/ijpm.ijpm_859_23 -
Handbook of Experimental Pharmacology Jun 2024β-Adrenoceptors (β-ARs) provide an important therapeutic target for the treatment of cardiovascular disease. Three β-ARs, β-AR, β-AR, β-AR are localized to the...
β-Adrenoceptors (β-ARs) provide an important therapeutic target for the treatment of cardiovascular disease. Three β-ARs, β-AR, β-AR, β-AR are localized to the human heart. Activation of β-AR and β-ARs increases heart rate, force of contraction (inotropy) and consequently cardiac output to meet physiological demand. However, in disease, chronic over-activation of β-AR is responsible for the progression of disease (e.g. heart failure) mediated by pathological hypertrophy, adverse remodelling and premature cell death. Furthermore, activation of β-AR is critical in the pathogenesis of cardiac arrhythmias while activation of β-AR directly influences blood pressure haemostasis. There is an increasing awareness of the contribution of β-AR in cardiovascular disease, particularly arrhythmia generation. All β-blockers used therapeutically to treat cardiovascular disease block β-AR with variable blockade of β-AR depending on relative affinity for β-AR vs β-AR. Since the introduction of β-blockers into clinical practice in 1965, β-blockers with different properties have been trialled, used and evaluated, leading to better understanding of their therapeutic effects and tolerability in various cardiovascular conditions. β-Blockers with the property of intrinsic sympathomimetic activity (ISA), i.e. β-blockers that also activate the receptor, were used in the past for post-treatment of myocardial infarction and had limited use in heart failure. The β-blocker carvedilol continues to intrigue due to numerous properties that differentiate it from other β-blockers and is used successfully in the treatment of heart failure. The discovery of β-AR in human heart created interest in the role of β-AR in heart failure but has not resulted in therapeutics at this stage.
PubMed: 38844580
DOI: 10.1007/164_2024_720 -
Cureus May 2024Pheochromocytomas are rare tumors that present a challenge for surgical and anesthetic management due to their ability to produce significant amounts of catecholamines....
Pheochromocytomas are rare tumors that present a challenge for surgical and anesthetic management due to their ability to produce significant amounts of catecholamines. This case report highlights the successful management of a 49-year-old woman simultaneously diagnosed with neurofibromatosis type 1, pheochromocytoma, and breast cancer. A key decision by the multidisciplinary team involving endocrinology, general surgery, senology, intensive care, and anesthesiology was to prioritize breast cancer surgery over pheochromocytoma resection. This decision considered the potential for improved prognosis and the need to minimize chemotherapy dosage. The case emphasizes the importance of thorough perioperative preparation, including assessing end-organ damage and optimizing medical therapy. Intraoperative management effectively navigated periods prone to catecholamine release, and postoperative care was closely monitored. This case demonstrates that with meticulous planning, a multidisciplinary approach, and a precise anesthetic strategy, safe anesthesia is achievable for patients with pheochromocytoma undergoing major elective surgeries other than pheochromocytoma resection, adding valuable knowledge to a scarcely documented clinical area.
PubMed: 38841026
DOI: 10.7759/cureus.59751