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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 -
Journal of Medical Case Reports Jun 2024This paper reports the first case of basaloid squamous cell carcinoma clinically and radiologically masquerading as a head and neck paraganglioma. (Review)
Review
BACKGROUND
This paper reports the first case of basaloid squamous cell carcinoma clinically and radiologically masquerading as a head and neck paraganglioma.
CASE PRESENTATION
A 66-year-old Sinhalese male with unilateral hearing impairment and 7th-12th (excluding 11th) cranial nerve palsies was diagnosed radiologically with a head and neck paraganglioma by magnetic resonance imaging of the brain, which revealed a hypointense and hyperintense punctate mass centered at the jugular fossa with intracranial extension. The ascending pharyngeal artery, recognized as the major feeder, was embolized by percutaneous embolization following digital subtraction angiography. Gross total resection of the tumor was followed by an uneventful postoperative recovery. Combined immunohistochemistry and histopathological morphology revealed a basaloid squamous cell carcinoma, following which the patient completed radiotherapy and is at 3-month follow-up currently.
CONCLUSION
This case report discusses the diagnostic pitfalls and management challenges of this rare entity on the basis of prior evidence, as well as a literature review and clinical and surgical analysis.
Topics: Humans; Male; Aged; Head and Neck Neoplasms; Paraganglioma; Diagnosis, Differential; Magnetic Resonance Imaging; Carcinoma, Squamous Cell; Embolization, Therapeutic; Angiography, Digital Subtraction
PubMed: 38858796
DOI: 10.1186/s13256-024-04601-4 -
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 -
Cureus May 2024Glomus tympanicum is a type of glomus tumor that affects the middle ear, located at the auricular branch of the vagus nerve. Glomus tumors, in general, are rare,...
Glomus tympanicum is a type of glomus tumor that affects the middle ear, located at the auricular branch of the vagus nerve. Glomus tumors, in general, are rare, slow-growing tumors and may not require surgery in some patients. It can be challenging to manage due to its hypervascularity, location, and advanced stage of diagnosis. Although glomus tympanicum commonly presents with pulsatile tinnitus and conductive hearing loss, it presented in our patient with large-volume hemoptysis and epistaxis, requiring urgent diagnostic and therapeutic interventions. We highlight the unique presentation of a 48-year-old female with sudden onset large-volume hemoptysis and epistaxis, leading to the discovery of a hypervascular glomus tympanicum in the right middle ear, identified via MRI. On arrival, her vitals were within normal limits, and a physical examination was pertinent for the obvious ongoing bleeding from her mouth. The examination revealed increased respiratory effort and bilateral crackles. Laboratory values were pertinent for hemoglobin of 11.8 g/dl. Earexamination revealed a large, vascular-appearing mass filling the right ear. An MRI of the face and neck showed an avidly enhancing 3.7 cm x 1.8 cm x 1.2 cm mass within the right middle ear and mastoid cavity, extending into the external auditory canal and through the eustachian tube into the nasopharynx. The mass was inseparable from the lateral border of the internal auditory canal in the petrous canal. Due to concern for glomus tympanicum, the patient underwent urgent embolization and subsequent tumor resection. Considering our patient initially presented large-volume hemoptysis, there was concern for alveolar hemorrhage. However, as she had no increased oxygen requirement, there was suspicion of massive epistaxis mistaken for hemoptysis. Due to large volume epistaxis, she underwent urgent embolization as resection could have been challenging due to increased vascularity. It is important to remember that massive epistaxis may not present with blood in the anterior nares, thereby delaying diagnosis and management. Furthermore, probing such tumors should be avoided as it may lead to life-threatening bleeding.
PubMed: 38854207
DOI: 10.7759/cureus.59981 -
Cureus May 2024Paraganglioma is a rare neuroendocrine tumor that arises outside of the adrenal gland, typically originating from the chromaffin tissue of the sympathetic or...
Paraganglioma is a rare neuroendocrine tumor that arises outside of the adrenal gland, typically originating from the chromaffin tissue of the sympathetic or parasympathetic ganglia. It can manifest at any age, with a peak incidence occurring between 40 and 50 years old. When the tumor secretes catecholamines, it is referred to as "functional." Currently, there is no standardized therapeutic approach. However, the management of metastatic forms is based on a systemic treatment with tri-chemotherapy. Herein, we present the case of a young male patient with heavily metastatic functional malignant paraganglioma, which represents the first case managed in our department. After seven months of Somatuline treatment, our patient experienced disease progression. Subsequently, he received tri-chemotherapy comprising cyclophosphamide, vincristine, and dacarbazine, which proved to be suboptimal due to poor hematological tolerance and a progression-free survival of less than three months. In the third line of treatment, Sunitinib was administered, but the therapeutic response was poor, with clinical progression observed within two months, ultimately leading to the patient's demise at home. The overall survival was two years.
PubMed: 38854184
DOI: 10.7759/cureus.60027 -
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 -
Journal of Clinical Imaging Science 2024Glomus tumors (or paragangliomas) are rare, benign tumors of neuroendocrine origin that appear in tissues of paraganglionic origin. This clinical entity poses a...
Glomus tumors (or paragangliomas) are rare, benign tumors of neuroendocrine origin that appear in tissues of paraganglionic origin. This clinical entity poses a significant treatment challenge due to its proximity to critical neurovascular structures, thus the potential of morbid functional damage caused by disease progression and/or treatment approach. While surgery remains the standard of care for such cases, there has been an increasing trend toward management with radiotherapy or close observation. Here, we present a case of a large and irregularly shaped glomus jugulotympanicum tumor that was treated with volumetric arc radiotherapy. Given the risk of cranial neuropathy with surgery, radiation was the preferred treatment modality. This case demonstrated the safety and efficacy of volumetric arc radiotherapy in the management of a large glomus tumor with a complex shape.
PubMed: 38841310
DOI: 10.25259/JCIS_17_2024 -
Clinical Case Reports Jun 2024Patients presenting with abdominal pain and retroperitoneal mass in radiographic images may be in the early stages of primary adrenal mantle cell lymphoma, which...
KEY CLINICAL MESSAGE
Patients presenting with abdominal pain and retroperitoneal mass in radiographic images may be in the early stages of primary adrenal mantle cell lymphoma, which requires histological studies for a definite diagnosis.
ABSTRACT
This report presents a 37-year-old woman complaining of ambiguous abdominal pain, with imaging findings revealing a retroperitoneal abdominal mass on the left side of the aorta, and a possible diagnosis of non-functional retroperitoneal paraganglioma. Total laparoscopic excision was performed. Surprisingly, histological examinations revealed features in favor of mantle cell lymphoma.
PubMed: 38831984
DOI: 10.1002/ccr3.8887 -
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