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Cureus May 2024Pheochromocytomas are tumors that develop from the chromaffin cells of the adrenal medulla. More than 40% of cases of pheochromocytomas are associated with genetic...
Pheochromocytomas are tumors that develop from the chromaffin cells of the adrenal medulla. More than 40% of cases of pheochromocytomas are associated with genetic conditions such as neurofibromatosis type 1 (NF1) or von Hippel-Lindau syndrome. Cystic pheochromocytomas are rare, generally asymptomatic, and thus of bigger size at the time of diagnosis. Surgical treatment is necessary to prevent cardiovascular morbidity and malignancy risk. We report the case of a 27-year-old patient admitted for further examination of a left adrenal mass that was discovered by an abdominal CT scan in the context of abdominal pain associated with hypertension evolving for three years. The clinical examination showed the presence of multiple café au lait spots, axillary and inguinal freckling with two dermal neurofibromas diagnosed clinically, as well as Lisch nodules on bilateral ophthalmic examination, thus meeting the clinical criteria for the diagnosis of NF1. The clinical laboratory investigation showed elevated urinary metanephrine and normetanephrine levels. CT scan examination showed a 10 cm left adrenal cystic mass on abdominal CT. This mass uptake of the radioligand in metaiodobenzylguanidine (MIBG) scintigraphy without secondary extra-adrenal localization allowed the diagnosis of a seemingly benign cystic pheochromocytoma to be made. The patient was put on presurgical drug preparation with volume expansion and then underwent left unilateral adrenalectomy. The histopathological study was in favor of a rather aggressive cystic pheochromocytoma with a pheochromocytoma of the adrenal gland scaled (PASS) score of 9. Blood pressure and urine catecholamines at seven days, three months, six months, and one year after surgery were normalized. Cystic pheochromocytoma is a rare tumor with a potentially poor prognosis. It is characterized by a more insidious evolution and a larger volume at diagnosis. It should be considered a diagnosis in patients with a cystic adrenal mass or an extra-adrenal mass with fluctuating blood pressure during surgery. This case illustrates the importance of both presurgical preparation and screening for pheochromocytoma in neurofibromatosis type 1.
PubMed: 38864044
DOI: 10.7759/cureus.60151 -
Journal of the ASEAN Federation of... 2024
Topics: Humans; Adipose Tissue, Brown; Female
PubMed: 38863906
DOI: 10.15605/jafes.039.01.21 -
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 -
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 -
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 -
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 -
Frontiers in Oncology 2024Pheochromocytoma is one of the most hereditary human tumors with at least 20 susceptible genes undergoing germline and somatic mutations, and other mutations less than...
BACKGROUND
Pheochromocytoma is one of the most hereditary human tumors with at least 20 susceptible genes undergoing germline and somatic mutations, and other mutations less than 1% -2%. In recent years, other rare mutations have gradually been discovered to be possibly related to the pathogenesis and metastasis of pheochromocytoma. Most patients with pheochromocytoma experience common symptoms like headaches, palpitations, and sweating, while some may have less common symptoms. The diversity of symptoms, genetic mutations, and limited treatment options make management challenging.
CASE PRESENTATION
A 53-year-old woman was hospitalized after experiencing episodic epigastric pain for one month. A mass was found in her right adrenal gland and she underwent robot-assisted laparoscopic surgery, revealing a pheochromocytoma. At the 16-month follow-up, multiple metastatic lesions consistent with metastatic pheochromocytoma were found. A germline mutation in the dihydrolipoamide succinyltransferase (DLST) gene (c.330 + 14A>G) was detected, and despite trying chemotherapy and adjuvant therapy, the patient had a limited response with an overall survival of 27 months.
CONCLUSIONS
DLST mutation is one of the rare pheochromocytoma-related mutated genes, and genetic sequencing is crucial for effective clinical management.
PubMed: 38835385
DOI: 10.3389/fonc.2024.1394552 -
World Journal of Clinical Cases May 2024Multiple endocrine neoplasia type 2 (MEN2) is a rare, autosomal dominant endocrine disease. Currently, the proto-oncogene is the only gene implicated in MEN2A...
BACKGROUND
Multiple endocrine neoplasia type 2 (MEN2) is a rare, autosomal dominant endocrine disease. Currently, the proto-oncogene is the only gene implicated in MEN2A pathogenesis. Once an carrier is detected, family members should be screened to enable early detection of medullary thyroid carcinoma, pheochromocytoma, and hyperparatitity. Among these, medullary thyroid carcinoma is the main factor responsible for patient mortality. Accordingly, delineating strategies to inform clinical follow-up and treatment plans based on genes is paramount for clinical practitioners.
CASE SUMMARY
Herein, we present proto-oncogene mutations, clinical characteristics, and treatment strategies in a family with MEN2A. A family study was conducted on patients diagnosed with MEN2A. DNA was extracted from the peripheral blood of family members, and first-generation exon sequencing of the proto-oncogene was conducted. The mutation was identified in three family members spanning three generations. Two patients were sequentially diagnosed with pheochromocytomas and bilateral medullary thyroid carcinomas. A 9-year-old child harboring the gene mutation was diagnosed with medullary thyroid carcinoma. Surgical resection of the tumors was performed. All family members were advised to undergo complete genetic testing related to the mutation, and the corresponding treatments administered based on test results and associated clinical guidelines.
CONCLUSION
Advancements in MEN2A research are important for familial management, assessment of medullary thyroid cancer invasive risk, and deciding surgical timing.
PubMed: 38817239
DOI: 10.12998/wjcc.v12.i15.2627 -
World Journal of Clinical Cases May 2024Paraganglioma (PGL) located in the retroperitoneum presents challenges in diagnosis and treatment due to its hidden location, lack of specific symptoms in the early...
BACKGROUND
Paraganglioma (PGL) located in the retroperitoneum presents challenges in diagnosis and treatment due to its hidden location, lack of specific symptoms in the early stages, and absence of distinctive manifestations on imaging.
CASE SUMMARY
A 56-year-old woman presented with a left upper abdominal mass discovered 1 wk ago during a physical examination. She did not have a history of smoking, alcohol consumption, or other harmful habits, no surgical procedures or infectious diseases, and had a 4-year history of hypertension. Upon admission, she did not exhibit fever, vomiting, or abdominal distension. Physical examination indicated mild percussion pain in the left upper abdomen, with no palpable enlargement of the liver or spleen. Laboratory tests and tumor markers showed no significant abnormalities. Enhanced computed tomography and magnetic resonance imaging of the upper abdomen revealed a cystic solid mass in the left epigastrium measuring approximately 6.5 cm × 4.5 cm, with inhomogeneous enhancement in the arterial phase, closely associated with the lesser curvature of the stomach and the pancreas. The patient underwent laparoscopic resection of the retroperitoneal mass, which was successfully removed without tumor rupture. A 12-month postoperative follow-up period showed good recovery.
CONCLUSION
This case report details the successful laparoscopic resection of a retroperitoneal subclinical PGL, resulting in a good recovery observed at the 12-month follow-up. Interestingly, the patient also experienced unexpected cure of hypertensive disease.
PubMed: 38817224
DOI: 10.12998/wjcc.v12.i15.2672 -
Annales D'endocrinologie May 2024Pheochromocytoma and paraganglioma (PPGL) are rare neuroendocrine tumors with high heritability, justifying systematic genetic screening for a germline variant in one of...
CONTEXT
Pheochromocytoma and paraganglioma (PPGL) are rare neuroendocrine tumors with high heritability, justifying systematic genetic screening for a germline variant in one of the twenty predisposing genes described to date.
PURPOSE
To describe the experience of one endocrine oncogenetic laboratory over a period of 21 years (2001-2022), from the beginning of PPGL genotyping with Sanger sequencing in 2001 to the implementation of next-generation sequencing (NGS).
METHOD
The activity database of an academic oncogenetic laboratory was searched to extract patients/relatives identified with a pathogenic variant/likely pathogenic variant (PV/LPV) over a period of 21 years. Clinical and genetic data were compared.
RESULTS
In total, 606 index cases with PPGL and 444 relatives were genotyped. Genotyping of index cases was performed by Sanger sequencing and gene deletion analysis in 327 cases and by NGS in 279. Germline PV/LPV spanning 10 genes was identified in 165 index cases (27.2%). Several recurrent PV/LPVs in SDHx were observed in non-related index cases, the most frequent being SDHD, c.170-1G>T (n=28). This subgroup showed great phenotypic variability both between and within families in terms of both tumor location and number. Four patients (1.1%) with PV/LPV in SDHx had 3PA (Pituitary Adenoma and pheochromocytoma/paraganglioma) syndrome. 258 relatives (58.1%) had inherited a PV/LPV in one driver gene. The rate of PV/LPV carriers who were symptomatic at first imaging evaluation was 32%, but varied between<20% in SDHB and SDHC and >50% in SDHD, VHL and MAX.
CONCLUSION
Our experience confirmed previously established genotype-phenotype correlations, but also highlights atypical clinical presentations, even for the same genetic variant. These data must be taken into account for optimal patient follow-up and management.
PubMed: 38815921
DOI: 10.1016/j.ando.2024.05.024