Definition/General

Introduction:
-Endometrial carcinoid is an extremely rare neuroendocrine tumor of the uterus
-It represents less than 0.1% of all uterine malignancies
-It shows neuroendocrine differentiation with characteristic morphology
-It can be pure carcinoid or mixed with other components.
Origin:
-May arise from neuroendocrine cells in endometrium
-Possible origin from argyrophil cells
-Can develop from multipotent stem cells
-May occur as part of mixed neuroendocrine-epithelial neoplasm
-Rare primary uterine location.
Classification:
-Classified as neuroendocrine tumor by WHO classification
-Well-differentiated neuroendocrine tumor
-Grade 1 or 2 based on mitotic rate and Ki-67
-May be pure or mixed with adenocarcinoma
-Low to intermediate grade malignancy.
Epidemiology:
-Extremely rare tumor
-Peak incidence in 6th-7th decades
-Postmenopausal women predominantly affected
-No clear ethnic predilection
-Often diagnosed at early stage
-Better prognosis than poorly differentiated neuroendocrine carcinomas.

Clinical Features

Presentation:
-Abnormal uterine bleeding (most common)
-Postmenopausal bleeding
-Carcinoid syndrome rare
-Pelvic mass
-Incidental finding in some cases.
Symptoms:
-Heavy uterine bleeding
-Pelvic pain
-Hormonal symptoms possible
-Carcinoid syndrome (flushing, diarrhea) extremely rare
-Constitutional symptoms uncommon.
Risk Factors:
-Age >60 years
-Multiple endocrine neoplasia syndromes (rare)
-Neurofibromatosis (rare association)
-Previous hormone therapy
-Family history of neuroendocrine tumors.
Screening:
-No specific screening recommendations
-24-hour urine 5-HIAA if carcinoid syndrome suspected
-Chromogranin A serum levels
-Imaging studies for staging
-Octreotide scan may be positive.

Master Carcinoid Pathology with RxDx

Access 100+ pathology videos and expert guidance with the RxDx app

Gross Description

Appearance:
-Well-circumscribed polypoid mass
-Tan-yellow cut surface
-Firm consistency
-Homogeneous appearance
-Minimal necrosis typically.
Characteristics:
-Size ranges from 1-6 cm
-Smooth external surface
-Cut surface shows solid, uniform appearance
-Yellow-tan color
-Well-demarcated from surrounding tissue.
Size Location:
-Usually small at presentation
-Mean size 3-4 cm
-Involves endometrial cavity
-Polypoid configuration common
-Superficial location typical.
Multifocality:
-Usually unifocal presentation
-Limited local invasion
-Lymphovascular invasion uncommon
-Lymph node metastases rare
-Distant metastases unusual.

Microscopic Description

Histological Features:
-Uniform cells in organoid patterns
-Nested or trabecular arrangement
-Salt-and-pepper chromatin pattern
-Inconspicuous nucleoli
-Low to moderate mitotic activity
-Minimal pleomorphism.
Cellular Characteristics:
-Small, uniform cells
-Round to oval nuclei
-Finely granular chromatin
-Moderate eosinophilic cytoplasm
-Indistinct cell borders
-Nuclei with salt-and-pepper appearance.
Architectural Patterns:
-Insular pattern (most common)
-Trabecular pattern
-Acinar pattern
-Solid nests
-Ribbon-like arrangements
-Rosette formation may be present.
Grading Criteria:
-Grade 1: <2 mitoses/10 HPF, Ki-67 <3%
-Grade 2: 2-20 mitoses/10 HPF, Ki-67 3-20%
-Grade 3: >20 mitoses/10 HPF, Ki-67 >20% (poorly differentiated).

Immunohistochemistry

Positive Markers:
-Chromogranin A (positive)
-Synaptophysin (positive)
-CD56 (NCAM, positive)
-Neuron-specific enolase (NSE)
-Vimentin
-TTF-1 (may be positive)
-CDX2 (variable).
Negative Markers:
-Cytokeratins (usually negative)
-EMA (negative)
-S-100 (negative)
-Desmin (negative)
-Smooth muscle actin (negative)
-LCA (negative).
Diagnostic Utility:
-Chromogranin A and Synaptophysin confirm neuroendocrine differentiation
-CD56 supports diagnosis
-Ki-67 for grading
-Negative epithelial markers distinguish from carcinoma
-Pancytokeratin may be focally positive.
Molecular Subtypes:
-No established molecular subtypes
-Chromosomal gains and losses
-TP53 mutations uncommon
-Rb loss in high-grade tumors
-Chromatin remodeling gene mutations.

Molecular/Genetic

Genetic Mutations:
-MEN1 mutations (if part of MEN syndrome)
-Chromosomal instability
-11q deletions
-18q deletions
-ATRX mutations (pancreatic NETs)
-DAXX mutations (pancreatic NETs).
Molecular Markers:
-Loss of 11q (MEN1 locus)
-Chromosomal alterations
-ATRX/DAXX loss (alternative lengthening of telomeres)
-mTOR pathway activation
-VEGF expression.
Prognostic Significance:
-Grade most important prognostic factor
-Size <2 cm indicates better prognosis
-Mitotic rate correlates with outcome
-Ki-67 index predicts behavior
-Stage at presentation important.
Therapeutic Targets:
-Somatostatin analogues (octreotide, lanreotide)
-mTOR inhibitors (everolimus)
-VEGF inhibitors (sunitinib)
-PRRT (peptide receptor radionuclide therapy)
-Surgical resection primary treatment.

Differential Diagnosis

Similar Entities:
-Poorly differentiated neuroendocrine carcinoma
-Metastatic carcinoid (GI tract, lung)
-Endometrial stromal tumor
-Paraganglioma
-Primitive neuroectodermal tumor.
Distinguishing Features:
-Poorly differentiated NEC: High mitotic rate, high Ki-67
-Metastatic: Primary site evident
-Stromal tumor: CD10 positive
-Carcinoid: Chromogranin/Synaptophysin positive
-Paraganglioma: S-100 positive sustentacular cells.
Diagnostic Challenges:
-Distinguishing from metastatic carcinoid
-Recognizing neuroendocrine morphology
-Grading based on mitotic count and Ki-67
-Excluding other neuroendocrine tumors
-Immunohistochemistry essential.
Rare Variants:
-Insular carcinoid
-Trabecular carcinoid
-Mixed adenocarcinoma-carcinoid
-Goblet cell carcinoid (rare in uterus)
-Atypical carcinoid.

Sample Pathology Report

Template Format

Sample Pathology Report

Complete Report: This is an example of how the final pathology report should be structured for this condition.

Specimen Information

[specimen type], measuring [size] cm, firm consistency

Diagnosis

Neuroendocrine tumor (carcinoid) of the endometrium

WHO Classification

Well-differentiated neuroendocrine tumor, Grade [1/2/3]

Histological Features

[Insular/trabecular/mixed] pattern, mitoses: [count]/10 HPF

Grade

WHO Grade: [1/2/3] based on mitotic count and Ki-67

Immunohistochemistry

Neuroendocrine markers: Chromogranin A [+/-], Synaptophysin [+/-], CD56 [+/-]

Ki-67: [percentage]%

TTF-1: [+/-], CDX2: [+/-]

Invasion

Myometrial invasion: [present/absent], depth: [specify if present]

Final Diagnosis

Well-differentiated neuroendocrine tumor (carcinoid), Grade [1/2/3]