An adolescent with large cell calcifying sertoli cell tumor of the testis and undiagnosed Carney Complex: A case report

Rosenblum, Frida; Koenig, Richard Gabriel; Mikhail, Fady M.; Porterfield, John R.; Nix, Jeffrey; Eltoum, Isam-Eldin

doi:10.1002/dc.23700

Cited by 6 publications

(8 citation statements)

References 13 publications

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“…Moreover, a low serum ACTH level of 0.8 (normal range: 5-50 pg/mL) and serum cortisol level of 503 nmol/L were noted. Our patient had a less aggressive course of the CNC in comparison to a previous case report by Rosenblum et al in 2017 [1], in which the patient had LCCSCT, pancreatic cancer, and Cushing syndrome due to adrenocortical carcinoma.…”

Section: Discussioncontrasting

confidence: 47%

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A 14-Year-Old Saudi Boy with Gynecomastia, Cushing Syndrome, Large-Cell Calcifying Sertoli Cell Tumor of the Testis, and Carney Complex

et al. 2022

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Objective:Rare disease Background:Carney complex (CNC) is a rare multiple neoplasia syndrome with autosomal dominant inheritance. CNC is frequently misdiagnosed owing to its diverse clinical characteristics. We reported the case of a 14-year-old Saudi boy with a history of gynecomastia, Cushing syndrome, large-cell calcifying Sertoli cell tumor of the testis, and CNC. Case Report:The patient was referred to the pediatric endocrine clinic for evaluation of bilateral slow progressing gynecomastia for 1-year duration. His clinical examination revealed lentigenes, bilateral diffuse breast enlargement (consistent with Tanner stage III), and asymmetrical testicular enlargement, more on the left side. Other systemic examinations were unremarkable. The initial blood workup showed elevated estradiol level with unsuppressed cortisol after an overnight 1-mg dexamethasone suppression test. Breast ultrasound (US) confirmed true gynecomastia. Testicular US revealed microcalcification and the testicular biopsy confirmed diagnoses of large-cell calcifying Sertoli cell tumor (LCCSCT). A 2-step dexamethasone suppression test showed a paradoxical rise in serum and urine cortisol levels, which are characteristic for PPNAD. LCCSCT and PPNAD are 2 major criteria fulfilling a diagnosis of CNC. The gene test showed heterozygous mutation in the PRKAR1A gene, which is diagnostic for CNC. The patient underwent bilateral mastoplasty and was planned for radical left orchiectomy. Conclusions:Gynecomastia and LCCSCT can be presenting features of CNC, which mandates careful, thorough clinical examination and tailored investigation to reach a diagnosis.

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Section: Discussioncontrasting

confidence: 47%

“…Carney complex (CNC) is a rare genetic disorder involving multiple neoplasia syndrome, first described in 1985 [ 1 ]. More than 50% of cases are familial owing to an autosomal dominant inheritance pattern, or appear occasionally as a result of a de novo genetic defect [ 2 ].…”

Section: Introductionmentioning

confidence: 99%

A 14-Year-Old Saudi Boy with Gynecomastia, Cushing Syndrome, Large-Cell Calcifying Sertoli Cell Tumor of the Testis, and Carney Complex

et al. 2022

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“…The presence of histologic features such as huge calcification or mulberrylike calcification, an intra-tubular development model with 3 Case Reports in Pathology thickened basal lamina of these tubules, plentiful myxoid stroma, and inflammatory cell infiltration supports a diagnosis of LCCSCT. In addition, Reinke crystals do not occur in LCCSCT [9,19,20], but the presence of calcification in LCCSCT has to be distinguished from those in seminoma, embryonal carcinoma, and teratoma [14].…”

Section: Discussionmentioning

confidence: 99%

“…Most of them are benign, but a few malignant cases have been reported [1,[4][5][6]. They were first identified by Proppe and Scully in 1980, and since then, almost 100 cases have been described in the literature [4,[7][8][9][10][11][12][13][14]. These tumors are usually seen in young adults and can affect one or both testicles in a multifocal form causing microcalcifications [5].…”

Section: Introductionmentioning

confidence: 99%

Large Cell Calcifying Sertoli Cell Tumor with Macrocalcification in a Partially Resected Testis

Bardisi

Khabaz

Al-Maghrabi

2020

Case Reports in Pathology

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Large cell calcifying Sertoli cell tumors (LCCSCTs) are extremely rare, with less than 100 tumors being described to date. Most of the tumors are benign with a few malignant cases, and aggressive behavior is infrequent. These tumors are a type of Sertoli cell tumor, and these tumors comprise less than 0.3% of all testis tumors in Saudi Arabia. They usually occur in boys and young adults and can affect one or both testicles in multifocal form causing microcalcifications. A 28-year-old male visited our hospital with left testis pain. Physical examination of the scrotum revealed that both testicles were normal sized with no palpable mass. Ultrasonography evaluation revealed grade 3 left varicocele and an incidental 9 mm calcified mass in the right testicle, which was further confirmed by MRI. Partial orchiectomy was performed. Clinical data, radiological studies, and morphological and immunohistochemical characteristics were analyzed.

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“…As seen in Peutz-Jaghers syndrome, large cell calcifying Sertoli cell tumors, even very rare, are associated with CNC (61). They are identified either in pediatric or in adult individuals (62). No particular endocrine constellation is expected, unless precocious puberty is developed in children; while local pain may be present, including a bilateral pattern (63).…”

Section: Testicular Tumorsmentioning

confidence: 99%

Dermatological and endocrine elements in Carney complex (Review)

et al. 2021

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Carney complex (CΝC) is a very rare, autosomal dominant, hereditary syndrome. Seventy percent of individuals with CNC have germline inactivating or deleting mutations of the CNC1 gene [currently known as protein kinase cAMP-dependent type I regulatory subunit α (PRKAR1A), located at the 17q22-24 chromosome level], with 30% of cases presenting with phosphodiesterase gene mutations. A member of the lentiginosis family, dermatological features include: skin pigmentation, cutaneous/mucosal myxomas, usually diagnosed by the age of 20 years (neonatal presentation is exceptional, requiring a meticulous differential diagnosis). Melanocyte-derived tumors such as epithelioid blue nevi (with different levels of pigmentation) and pigmented epithelioid melanocytoma (previously 'animal-type melanoma') are often found. Myxomas, mesenchymal tumors with mostly a benign pattern, may be recurrent. Primary cutaneous melanotic schwannoma are atypical, while non-skin sites are frequent. Corticotropinomas or somatotropinomas are part of the hereditary syndrome-related pituitary adenomas (representing 5% of all). Primary pigmented nodular adrenocortical disease involves bilateral cortical hyperplasia causing Cushing syndrome (CS) at an earlier age than non-CNC cases; osteoporotic fractures seem more prevalent compare to CS of other etiologies. Typically benign, a few cases of adrenocortical carcinoma have been identified. A total of 5% of familial non-medullary thyroid cancer is syndromic, also including CNC. CNC-related thyroid frame includes: hyperthyroidism, follicular hyperplasia/adenomas, follicular carcinoma (usually aggressive, bilateral or multifocal). Large cell calcifying Sertoli cell tumors of the testes have malignant behavior in adults; in children these may induce precocious puberty. Two particular mammary tumors are found: myxoid fibroadenomas and breast myxomatosis. Cutaneous/subcutaneous lesions, pigmented or not, or any focal swelling of non-identified cause needs careful examination, since dermatological elements are among the earliest and most discernable by which to detect lesions in CNC, a systemic condition with multi-level endocrine involvement.

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An adolescent with large cell calcifying sertoli cell tumor of the testis and undiagnosed Carney Complex: A case report

Cited by 6 publications

References 13 publications

A 14-Year-Old Saudi Boy with Gynecomastia, Cushing Syndrome, Large-Cell Calcifying Sertoli Cell Tumor of the Testis, and Carney Complex

A 14-Year-Old Saudi Boy with Gynecomastia, Cushing Syndrome, Large-Cell Calcifying Sertoli Cell Tumor of the Testis, and Carney Complex

Large Cell Calcifying Sertoli Cell Tumor with Macrocalcification in a Partially Resected Testis

Dermatological and endocrine elements in Carney complex (Review)

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