-
Modern Pathology : An Official Journal... Jul 2022Mast cell sarcoma (MCS) is an exceedingly rare form of mastocytosis characterized by invasive malignant mast cell growth and metastatic potential. Diagnosis of MCS is... (Review)
Review
Mast cell sarcoma (MCS) is an exceedingly rare form of mastocytosis characterized by invasive malignant mast cell growth and metastatic potential. Diagnosis of MCS is very challenging due to its marked morphologic variations and significant immunophenotypic overlap with other neoplasms. In this study, we undertook an extensive study of 10 cases of MCS from our series, with review of additional 24 cases from the literature, to better clarify the clinicopathologic and molecular features of MCS. From the analyses of our 10 cases, MCS equally involved males and females with a median age of 54.5 years (range 1-63). The bone was the most common site of involvement, as noted in 9/10 of cases. Two patients had prior germ cell tumors (mediastinal germ cell tumor and ovarian dysgerminoma), and concurrent systemic mastocytosis was noted in one of nine patients. Serum tryptase levels were elevated in 6/7 of patients, and 3/9 of patients had mast cell activation symptoms. Morphologically, the tumor cells were typically large and pleomorphic with frequent reactive eosinophils. By immunohistochemical staining, MCS consistently expressed CD43 (8/8), CD117 (10/10), and mast cell tryptase (10/10), as well as CD13 (3/3) and CD33 (10/10), with variable positivity of CD2 (1/9), CD25 (4/9), CD30 (5/8), and CD68 (5/9). Notably, KIT D816V was not detected in nine cases in our study, although two cases had other mutations of KIT gene. Seven out of eight patients received chemotherapy with or without radiotherapy. However, the response was poor, and four out of eight patients died within a median follow-up interval of five months. Taken together, there are no standardized therapeutic regimens available for MCS at this time, and the prognosis is dismal. Therefore, it is critical to further investigate and characterize this rare entity, with the hope of improving diagnostic accuracy and providing more effective, targeted therapies.
Topics: Adolescent; Adult; Child; Child, Preschool; Female; Humans; Infant; Male; Mast Cells; Mast-Cell Sarcoma; Mastocytosis; Mastocytosis, Systemic; Middle Aged; Proto-Oncogene Proteins c-kit; Young Adult
PubMed: 35105959
DOI: 10.1038/s41379-022-01014-w -
SAGE Open Medical Case Reports 2022We report on the case of a patient with dysgerminoma, a rare germ cell tumor, which showed hypercalcemia with an elevation of 1α,25-dihydroxycholecalciferol...
We report on the case of a patient with dysgerminoma, a rare germ cell tumor, which showed hypercalcemia with an elevation of 1α,25-dihydroxycholecalciferol (calcitriol). A 27-year-old nulliparous woman presented with hypercalcemia during the examination of a right ovarian tumor with an elevation of calcitriol, lactate dehydrogenase, and alkaline phosphatase. Fractional excretion of calcium was elevated, and intact parathyroid hormone was suppressed. After undergoing right salpingo-oophorectomy, the patient's serum calcium and calcitriol returned to the normal range within a week. A literature search was conducted on the topic by reviewing databases for dysgerminoma showing hypercalcemia. We identified 14 patients from the literature and performed a pooled analysis, including the results of our case. However, most cases lack data that can help investigate the potential association between parathyroid hormone, parathyroid hormone-related protein, calcitriol, and phosphorus in hypercalcemia. Thus, more case reports that include additional information are required to fully elucidate the mechanism of hypercalcemia associated with dysgerminoma.
PubMed: 35070316
DOI: 10.1177/2050313X211068562 -
Journal of Reproduction & Infertility 2021Malignant ovarian germ cell tumors (MOGCTs) are rare female cancers, constituting up to 10% of ovarian cancers. Dysgerminoma is the most common histological variant....
BACKGROUND
Malignant ovarian germ cell tumors (MOGCTs) are rare female cancers, constituting up to 10% of ovarian cancers. Dysgerminoma is the most common histological variant. Surgical removal of the tumor with optimal debulking is the treatment of choice. Multidrug chemotherapy following surgery offers high remission rates. Considering the prevalence of these tumors in adolescent and young females, fertility-sparing treatment is of paramount importance.
METHODS
The data of all patients with ovarian malignancy admitted at a tertiary-care-teaching hospital from September 2009-March 2019 were analyzed. Ten patients of MOGCTs were treated in this period. The clinical features, radiological and biochemical findings, and management and treatment outcome were evaluated.
RESULTS
The median age of patients was 23 years. Histological subtypes included immature teratoma (n=3), endodermal sinus tumor (n=4), and dysgerminoma (n=3). Tumor markers namely AFP, βHCG, and LDH increased in all except the patients with immature teratoma. Two patients with dysgerminoma were in the second trimester of pregnancy. All patients except one underwent surgery followed by BEP chemotherapy. Two patients had developed metastasis within six months of treatment and died. In seven patients, no evidence of disease was reported till date.
CONCLUSION
Management of antenatal patients with dysgerminoma by surgery followed by BEP chemotherapy has favorable prognosis. Fertility-sparing surgery with adjuvant chemotherapy offers great advantage in young girls. However, risk stratification based on prognostic factors should be implemented in order to individualize the treatment for achieving higher survival rates. The option for oocyte-cryopreservation prior to surgery must be discussed with patients desiring future fertlity.
PubMed: 34987988
DOI: 10.18502/jri.v22i4.7652 -
Clinical Case Reports Dec 2021We present a case of dysgerminoma of the right adnexa with an infiltration to the right wall of the uterus and a metastasis of para-aortic lymph node.
We present a case of dysgerminoma of the right adnexa with an infiltration to the right wall of the uterus and a metastasis of para-aortic lymph node.
PubMed: 34938568
DOI: 10.1002/ccr3.5227 -
International Journal of Clinical and... 2021We report a rare case of double primary germ cell tumor: right ovarian yolk sac tumor and left ovarian dysgerminoma. A 45 year-old woman was admitted to our hospital due...
We report a rare case of double primary germ cell tumor: right ovarian yolk sac tumor and left ovarian dysgerminoma. A 45 year-old woman was admitted to our hospital due to irregular bleeding for 2 days and extended menstrual period. Right ovarian mass was discovered on transvaginal ultrasound. The pathology results revealed that right ovarian yolk sac tumor and left ovarian dysgerminoma. Total abdominal hysterectomy with bilateral salpingo-oophorectomy with debulking with pelvic lymphadenectomy was performed. The patient underwent adjuvant chemotherapy with BEP six courses in four months and AFP dropped from 8490 ng/ml to nearly 10 ng/ml. Conclusion: Total abdominal hysterectomy with bilateral salpingo-oophorectomy followed by combination chemotherapy must be the treatment of first choice of germ cell tumor.
PubMed: 34900077
DOI: No ID Found -
Cancer Imaging : the Official... Oct 2021Imaging findings have a prominent role in early and correct identification of ovarian dysgerminoma, the most common ovarian malignant germ cell tumor (OMGCT). Despite...
BACKGROUND
Imaging findings have a prominent role in early and correct identification of ovarian dysgerminoma, the most common ovarian malignant germ cell tumor (OMGCT). Despite Computed Tomography (CT) is widely used, Magnetic Resonance Imaging (MRI) has proved to be superior in adnexal masses characterization. Limited data and small series are available concerning MRI aspects of dysgerminoma.
CASE PRESENTATION
From January 2012 to December 2018, a database of solid ovarian masses was retrospectively reviewed. Eight patients with histologically proven pure ovarian dysgerminoma and complete imaging available were identified and analyzed. Imaging findings were evaluated separately by two radiologists expert in female genito-urinary MRI.
CONCLUSIONS
MRI findings of a lobulated, purely solid, encapsulated mass with hyper-intensity of lobules and hypo-intensity of septa on T2w images contribute to differentiate dysgerminomas from other ovarian neoplasms.
Topics: Adolescent; Adult; Dysgerminoma; Female; Humans; Magnetic Resonance Imaging; Neoplasms, Germ Cell and Embryonal; Ovarian Neoplasms; Retrospective Studies
PubMed: 34711293
DOI: 10.1186/s40644-021-00427-1 -
Archivos Argentinos de Pediatria Oct 2021Hypercalcemia associated with malignant tumors is a rare entity in pediatrics (0.5-1.3 % of pediatric cancers). It responds to different pathophysiological mechanisms...
Hypercalcemia associated with malignant tumors is a rare entity in pediatrics (0.5-1.3 % of pediatric cancers). It responds to different pathophysiological mechanisms and the typical symptoms shown are usually nonspecific, but potentially serious. We present a clinical case of a 12-year-old patient with a bilateral ovarian dysgerminoma who was diagnosed with severe hypercalcemia at the onset, which required hyperhydration associated with loop diuretics, bisphosphonates and, eventually, the tumor resection surgery that allowed the final resolution of the clinical picture. Despite being a rare hydroelectric disorder in pediatrics, given the potential severity of hypercalcemia, early detection and treatment are important in order to avoid potential short- and long-term complications.
Topics: Child; Dysgerminoma; Female; Humans; Hypercalcemia; Ovarian Neoplasms; Pediatrics
PubMed: 34569760
DOI: 10.5546/aap.2021.e545 -
Journal of Clinical Research in... Jun 2022Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disease, affecting mainly patients of Slavic origin. It is caused by a defect in the gene, resulting in...
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disease, affecting mainly patients of Slavic origin. It is caused by a defect in the gene, resulting in defective nibrin protein formation. This leads to chromosomal instability, which predisposes to cancer, with lymphoid malignancies predominating. Nibrin is also involved in gonadal development and its disfunction in females with frequently results in a pure gonadal dysgenesis (PGD) causing hypergonadotropic hypogonadism. However, only a few ovarian tumors in NBS patients have been reported to date. We describe the first case of a girl with with PGD, who developed metachronous bilateral ovarian germ cell tumors (dysgerminoma and gonadoblastoma). Pathogenesis of PGD, neoplastic transformation and therapeutic approach in females with NBS are discussed.
Topics: Female; Gonadal Dysgenesis; Gonadoblastoma; Humans; Hypogonadism; Nijmegen Breakage Syndrome; Ovarian Neoplasms
PubMed: 34544220
DOI: 10.4274/jcrpe.galenos.2021.2021.0151 -
Acta Endocrinologica (Bucharest,... 2021Learn the growth hormone dynamics and discuss the issues of growth hormone therapy in subjects with 45,X/46XY.
CONTEXT
Learn the growth hormone dynamics and discuss the issues of growth hormone therapy in subjects with 45,X/46XY.
OBJECTIVE
To study the growth hormone dynamics in children with 45,X/46,XY karyotyping and mixed gonadal dysgenesis (MGD).
DESIGN
Descriptive clinical study.
PARTICIPANTS
Five subjects with karyotype 45,X / 46,XY with or without genital ambiguity and somatic features of SHOX haploinsufficiency.
INTERVENTIONS
Growth hormone dynamic study and gonadectomy.
MAIN OUTCOME
IGF-1, peak GH levels, Turner's stigmata and histology of gonadal tissue.
RESULTS
Five cases of MGD with both male and female phenotype were studies. IGF-1 levels and GH levels showed both features of growth hormone deficiency and growth hormone insensitivity. One study subject has gonadal germ cell tumour (dysgerminoma). We discuss here the issues regarding the GH therapy in MGD subjects.
CONCLUSION
Growth deceleration in MGD subjects is partly due to defective growth hormone secretion and partly due to growth hormone insensitivity. MGD subjects are at high risk for occurrence of gonadal tumours. Gonadectomy or biopsy of underlying dysgenetic gonads is essential prior GH therapy. Close surveillance for second neoplasm is to be considered in subjects with history of gonadal tumors prior starting GH for short stature.
PubMed: 34539919
DOI: 10.4183/aeb.2021.117 -
BMC Pregnancy and Childbirth Sep 2021Ovarian dysgerminoma, a subtype of malignant germ cell tumor (GCT), is a rare ovarian neoplasm that is infrequently found in the gravid patient. When dysgerminomas do...
BACKGROUND
Ovarian dysgerminoma, a subtype of malignant germ cell tumor (GCT), is a rare ovarian neoplasm that is infrequently found in the gravid patient. When dysgerminomas do occur in pregnancy, the rapidly growing tumors can have a heterogeneous presentation and lead to peripartum complications and morbidity. Due to the rarity of this condition, diagnostic and therapeutic strategies are not well described in the literature.
CASE PRESENTATION
A healthy multigravida with an uncomplicated antenatal history presented for elective induction of labor. She had a protracted labor course, persistently abnormal cervical examinations, and eventually developed a worsening Category II tracing that prompted cesarean birth. Intraoperatively, a 26 cm pelvic mass later identified as a Stage IA dysgerminoma was discovered along with a massive hemoperitoneum. The mass was successfully resected, and the patient remains without recurrence 6 months postoperatively.
CONCLUSION
Although rare and generally indolent, dysgerminomas can grow rapidly and cause mechanical obstruction of labor and other complications in pregnancy. Pelvic masses, including malignant neoplasms, should be included in as part of a broad differential diagnosis when evaluating even routine intrapartum complications such as abnormal labor progression. Additionally, we demonstrate that adnexal masses can be a source of life-threatening intraabdominal hemorrhage.
Topics: Adult; Diagnosis, Differential; Dysgerminoma; Dystocia; Female; Hemoperitoneum; Humans; Incidental Findings; Ovarian Neoplasms; Pregnancy; Pregnancy Complications, Neoplastic; Treatment Outcome
PubMed: 34493243
DOI: 10.1186/s12884-021-04063-2